Mutagenetix > Incidental Mutation

Incidental Mutation 'R0883:Abca13'

80872

Institutional Source

Beutler Lab

Gene Symbol

Abca13

Ensembl Gene

ENSMUSG00000004668

Gene Name

ATP-binding cassette, sub-family A member 13

Synonyms

A930002G16Rik

MMRRC Submission

039050-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9141942-9634259 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 9241238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1034 (Q1034*)

Ref Sequence

ENSEMBL: ENSMUSP00000040465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042740]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000042740
AA Change: Q1034*

SMART Domains

Protein: ENSMUSP00000040465
Gene: ENSMUSG00000004668
AA Change: Q1034*

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	358	379	N/A	INTRINSIC
low complexity region	441	451	N/A	INTRINSIC
low complexity region	820	831	N/A	INTRINSIC
low complexity region	1382	1393	N/A	INTRINSIC
low complexity region	1721	1737	N/A	INTRINSIC
low complexity region	1859	1872	N/A	INTRINSIC
Pfam:ABC2_membrane_3	3288	3740	4.7e-21	PFAM
low complexity region	3796	3809	N/A	INTRINSIC
AAA	3835	4019	8.08e-12	SMART
transmembrane domain	4206	4228	N/A	INTRINSIC
Pfam:ABC2_membrane_3	4317	4646	1.6e-33	PFAM
AAA	4721	4909	8.86e-9	SMART

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

98% (148/151)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 150 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,775,632 (GRCm39)	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,796,687 (GRCm39)	*118W	probably null	Het
4930595M18Rik	G	T	X: 80,464,537 (GRCm39)	T390N	possibly damaging	Het
Acsbg3	A	T	17: 57,190,835 (GRCm39)	N468Y	probably benign	Het
Adgra3	T	C	5: 50,118,065 (GRCm39)	H1161R	probably damaging	Het
Aff1	T	C	5: 103,974,004 (GRCm39)		probably benign	Het
Agap2	A	G	10: 126,927,571 (GRCm39)	T1131A	possibly damaging	Het
Ankrd12	A	G	17: 66,292,127 (GRCm39)	V1102A	probably benign	Het
Ankrd54	A	T	15: 78,946,931 (GRCm39)	C23S	probably damaging	Het
Anxa10	C	T	8: 62,531,001 (GRCm39)	V70I	probably benign	Het
Asap3	T	C	4: 135,961,636 (GRCm39)		probably benign	Het
Asb13	T	C	13: 3,695,052 (GRCm39)		probably null	Het
Atp6v1a	A	T	16: 43,922,055 (GRCm39)		probably benign	Het
Atp8b1	T	G	18: 64,697,612 (GRCm39)	I411L	probably benign	Het
Baiap3	T	A	17: 25,468,075 (GRCm39)	N313I	probably damaging	Het
Bok	T	C	1: 93,614,209 (GRCm39)	I14T	probably benign	Het
Bri3bp	T	A	5: 125,518,808 (GRCm39)		probably null	Het
C2cd2l	A	G	9: 44,227,499 (GRCm39)	L186P	probably damaging	Het
Cadm2	A	T	16: 66,679,702 (GRCm39)	C44S	probably damaging	Het
Capn11	T	C	17: 45,949,807 (GRCm39)		probably benign	Het
Carm1	T	A	9: 21,480,887 (GRCm39)		probably benign	Het
Ccdc27	T	C	4: 154,120,941 (GRCm39)	E285G	unknown	Het
Cct3	T	A	3: 88,220,864 (GRCm39)	D298E	probably damaging	Het
Cd59b	T	A	2: 103,911,331 (GRCm39)		probably benign	Het
Cdh2	T	C	18: 16,762,633 (GRCm39)	N437S	probably benign	Het
Celsr3	T	A	9: 108,719,832 (GRCm39)	I2470N	probably damaging	Het
Cfap100	G	A	6: 90,392,888 (GRCm39)		probably benign	Het
Cfap119	T	C	7: 127,184,034 (GRCm39)	E261G	probably damaging	Het
Cfap45	A	T	1: 172,359,756 (GRCm39)	R98S	possibly damaging	Het
Cfap54	T	A	10: 92,706,531 (GRCm39)	H2757L	unknown	Het
Chd1	C	A	17: 15,945,693 (GRCm39)	N72K	probably benign	Het
Cntn4	A	T	6: 106,644,501 (GRCm39)		probably benign	Het
Cstf2t	A	T	19: 31,062,026 (GRCm39)	M521L	probably benign	Het
Daam2	A	T	17: 49,805,911 (GRCm39)		probably benign	Het
Ddias	A	T	7: 92,508,545 (GRCm39)	W457R	probably benign	Het
Ddr2	C	T	1: 169,822,198 (GRCm39)	V417I	probably benign	Het
Dhx57	T	C	17: 80,577,800 (GRCm39)	T570A	probably damaging	Het
Dmp1	A	G	5: 104,355,496 (GRCm39)	E32G	possibly damaging	Het
Dtymk	C	T	1: 93,729,510 (GRCm39)	V14M	possibly damaging	Het
Dync2li1	G	A	17: 84,956,699 (GRCm39)	M286I	probably benign	Het
Eea1	G	A	10: 95,857,529 (GRCm39)	D664N	possibly damaging	Het
Esp6	G	T	17: 40,876,287 (GRCm39)	V112L	probably benign	Het
Fam83h	G	T	15: 75,878,018 (GRCm39)	Q127K	probably damaging	Het
Gabbr2	G	A	4: 46,677,474 (GRCm39)	T802I	probably benign	Het
Gart	C	A	16: 91,420,291 (GRCm39)	D851Y	possibly damaging	Het
Gemin6	T	A	17: 80,535,524 (GRCm39)	H161Q	probably damaging	Het
Gm10912	T	C	2: 103,896,875 (GRCm39)	S5P	probably benign	Het
Gm5941	G	A	X: 91,533,817 (GRCm39)	A62T	possibly damaging	Het
Gng2	G	T	14: 19,941,363 (GRCm39)	D26E	probably benign	Het
Gpr33	A	G	12: 52,070,418 (GRCm39)	V207A	probably benign	Het
Gstm3	T	A	3: 107,873,586 (GRCm39)		probably benign	Het
Havcr1	T	C	11: 46,643,259 (GRCm39)	C60R	probably damaging	Het
Hspg2	T	C	4: 137,268,751 (GRCm39)	S2157P	probably benign	Het
Ift140	A	G	17: 25,309,907 (GRCm39)	T1105A	probably benign	Het
Igsf8	C	A	1: 172,143,826 (GRCm39)	A56D	possibly damaging	Het
Kat6a	G	T	8: 23,352,230 (GRCm39)	A5S	probably damaging	Het
Kctd16	A	G	18: 40,663,828 (GRCm39)	E319G	probably damaging	Het
Kmo	T	C	1: 175,474,706 (GRCm39)	V157A	possibly damaging	Het
Lrp5	T	A	19: 3,655,308 (GRCm39)	I1071F	probably damaging	Het
Lrrc17	A	G	5: 21,766,276 (GRCm39)	T253A	probably benign	Het
Mast2	T	A	4: 116,168,964 (GRCm39)	H769L	probably damaging	Het
Mast4	T	C	13: 102,990,408 (GRCm39)	K50E	probably damaging	Het
Mbd5	A	G	2: 49,146,701 (GRCm39)	T304A	possibly damaging	Het
Mbp	T	C	18: 82,590,995 (GRCm39)	S73P	probably damaging	Het
Mc5r	T	A	18: 68,472,163 (GRCm39)	V174E	probably damaging	Het
Med13	T	A	11: 86,197,864 (GRCm39)	T736S	probably benign	Het
Med13l	T	C	5: 118,809,067 (GRCm39)		probably benign	Het
Minar1	T	C	9: 89,484,470 (GRCm39)	H309R	probably benign	Het
Mlh3	C	G	12: 85,282,488 (GRCm39)	A1382P	possibly damaging	Het
Mpdz	T	C	4: 81,278,228 (GRCm39)		probably benign	Het
Muc5ac	A	G	7: 141,350,002 (GRCm39)	T582A	possibly damaging	Het
Nalcn	A	G	14: 123,702,152 (GRCm39)	F453S	probably damaging	Het
Nrap	T	A	19: 56,333,906 (GRCm39)	M902L	probably damaging	Het
Nup85	C	T	11: 115,459,196 (GRCm39)	R100*	probably null	Het
Nxf1	T	G	19: 8,741,955 (GRCm39)	N296K	probably damaging	Het
Ogg1	A	G	6: 113,305,381 (GRCm39)	T65A	probably damaging	Het
Ogt	A	G	X: 100,687,805 (GRCm39)		probably benign	Het
Or4c10	A	G	2: 89,760,545 (GRCm39)	T131A	probably benign	Het
Or4k48	C	T	2: 111,476,136 (GRCm39)	V69I	probably benign	Het
Or51e1	T	A	7: 102,359,202 (GRCm39)	H245Q	probably damaging	Het
Or56b1b	T	A	7: 108,164,483 (GRCm39)	N173I	probably benign	Het
Ovol2	T	C	2: 144,173,710 (GRCm39)	D24G	probably damaging	Het
Pabpc1	A	G	15: 36,599,298 (GRCm39)		probably benign	Het
Pak6	T	C	2: 118,524,168 (GRCm39)	L441P	probably damaging	Het
Pappa	T	A	4: 65,107,552 (GRCm39)	C654*	probably null	Het
Paqr6	T	A	3: 88,273,298 (GRCm39)	S97T	probably damaging	Het
Parp14	T	C	16: 35,678,888 (GRCm39)	N360S	probably benign	Het
Pclo	G	T	5: 14,727,873 (GRCm39)	G2244*	probably null	Het
Pdzrn3	A	T	6: 101,132,903 (GRCm39)		probably null	Het
Pes1	T	C	11: 3,925,557 (GRCm39)	M220T	probably damaging	Het
Phip	A	T	9: 82,758,274 (GRCm39)	V1473E	probably benign	Het
Pkd2l2	T	A	18: 34,563,321 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,660,677 (GRCm39)	D302G	probably damaging	Het
Plekhh2	A	G	17: 84,925,459 (GRCm39)	T1419A	probably benign	Het
Ppara	A	T	15: 85,682,372 (GRCm39)	E356V	probably damaging	Het
Ppp1r37	G	A	7: 19,266,102 (GRCm39)	P555S	probably benign	Het
Ppp6r1	T	C	7: 4,642,709 (GRCm39)	E545G	possibly damaging	Het
Proser3	G	A	7: 30,240,124 (GRCm39)	H327Y	probably damaging	Het
Prss43	T	A	9: 110,658,576 (GRCm39)	I292N	probably damaging	Het
Pwwp3b	T	A	X: 138,136,444 (GRCm39)	D327E	probably damaging	Het
Pygl	G	C	12: 70,253,178 (GRCm39)	N271K	probably damaging	Het
Rassf7	T	A	7: 140,796,903 (GRCm39)		probably benign	Het
Rfx2	T	C	17: 57,110,722 (GRCm39)	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,346,541 (GRCm39)	V214A	probably benign	Het
Rspo1	T	A	4: 124,885,225 (GRCm39)		probably null	Het
Sav1	A	C	12: 70,012,979 (GRCm39)	L366V	probably benign	Het
Sema3b	T	G	9: 107,481,355 (GRCm39)	T52P	possibly damaging	Het
Senp6	A	G	9: 80,023,841 (GRCm39)	D40G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,256,646 (GRCm39)	S719P	probably damaging	Het
Shank1	C	T	7: 44,001,718 (GRCm39)	R1146W	unknown	Het
Slc34a3	G	T	2: 25,121,245 (GRCm39)	D307E	probably benign	Het
Slc35b3	T	C	13: 39,121,251 (GRCm39)	I330V	probably benign	Het
Slc4a10	G	A	2: 62,073,742 (GRCm39)	C268Y	probably benign	Het
Slco6d1	A	G	1: 98,349,124 (GRCm39)	E65G	probably benign	Het
Slit2	A	G	5: 48,402,915 (GRCm39)		probably benign	Het
Smcr8	T	C	11: 60,668,941 (GRCm39)	Y30H	probably damaging	Het
Snap47	A	G	11: 59,329,326 (GRCm39)		probably benign	Het
Snrnp25	G	A	11: 32,156,960 (GRCm39)	V15I	probably damaging	Het
Spns2	T	C	11: 72,345,223 (GRCm39)	Y449C	probably damaging	Het
Stab2	T	A	10: 86,760,314 (GRCm39)		probably benign	Het
Strip1	C	A	3: 107,521,929 (GRCm39)	D750Y	probably damaging	Het
Taf1c	A	T	8: 120,326,722 (GRCm39)	I438N	probably damaging	Het
Tbc1d2	T	A	4: 46,609,003 (GRCm39)	K745*	probably null	Het
Tctn1	T	C	5: 122,402,207 (GRCm39)	T76A	probably damaging	Het
Tesl1	A	T	X: 23,773,290 (GRCm39)	I264F	probably benign	Het
Tfpi	T	C	2: 84,273,664 (GRCm39)		probably benign	Het
Timm44	A	T	8: 4,316,592 (GRCm39)	H317Q	probably benign	Het
Tnfaip1	A	T	11: 78,420,840 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,554,992 (GRCm39)		probably benign	Het
Top3b	T	C	16: 16,697,301 (GRCm39)		probably benign	Het
Trak1	T	A	9: 121,282,351 (GRCm39)	M410K	possibly damaging	Het
Trpm3	C	A	19: 22,956,018 (GRCm39)	P1160Q	probably damaging	Het
Tyk2	T	A	9: 21,022,433 (GRCm39)	T799S	possibly damaging	Het
Ubfd1	G	A	7: 121,666,714 (GRCm39)		probably benign	Het
Unc13a	G	A	8: 72,094,817 (GRCm39)	R1272*	probably null	Het
Unc45b	T	A	11: 82,831,031 (GRCm39)	L797Q	possibly damaging	Het
Urb2	C	T	8: 124,757,709 (GRCm39)	Q1139*	probably null	Het
Vmn2r66	A	T	7: 84,657,070 (GRCm39)	S112T	probably benign	Het
Vmn2r71	A	T	7: 85,272,842 (GRCm39)	D552V	probably benign	Het
Vmn2r76	A	G	7: 85,877,904 (GRCm39)	Y498H	probably benign	Het
Vmn2r84	A	C	10: 130,226,984 (GRCm39)	W285G	probably damaging	Het
Vps72	G	T	3: 95,029,894 (GRCm39)	L304F	probably damaging	Het
Wiz	A	T	17: 32,575,415 (GRCm39)	I907N	probably damaging	Het
Yaf2	T	C	15: 93,183,417 (GRCm39)	K131R	probably damaging	Het
Zfp141	A	T	7: 42,125,480 (GRCm39)	Y331N	possibly damaging	Het
Zfp324	G	T	7: 12,704,951 (GRCm39)	C380F	probably damaging	Het
Zfp521	T	C	18: 13,978,119 (GRCm39)	T765A	probably benign	Het
Zfp616	A	T	11: 73,976,500 (GRCm39)	H923L	probably damaging	Het
Zfpm1	C	T	8: 123,062,585 (GRCm39)	T548M	probably damaging	Het
Zp2	A	T	7: 119,742,799 (GRCm39)		probably benign	Het

Other mutations in Abca13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Abca13	APN	11	9,247,443 (GRCm39)	missense	probably benign	0.24
IGL00481:Abca13	APN	11	9,240,969 (GRCm39)	missense	probably damaging	0.99
IGL00707:Abca13	APN	11	9,241,586 (GRCm39)	missense	probably damaging	0.99
IGL00755:Abca13	APN	11	9,492,102 (GRCm39)	missense	possibly damaging	0.87
IGL00771:Abca13	APN	11	9,240,870 (GRCm39)	missense	probably damaging	1.00
IGL00802:Abca13	APN	11	9,247,717 (GRCm39)	missense	probably damaging	0.96
IGL00807:Abca13	APN	11	9,328,285 (GRCm39)	missense	probably benign	0.10
IGL00977:Abca13	APN	11	9,349,284 (GRCm39)	missense	probably damaging	1.00
IGL01064:Abca13	APN	11	9,433,855 (GRCm39)	missense	probably benign	0.01
IGL01100:Abca13	APN	11	9,224,673 (GRCm39)	splice site	probably null
IGL01290:Abca13	APN	11	9,206,232 (GRCm39)	missense	probably damaging	1.00
IGL01299:Abca13	APN	11	9,248,743 (GRCm39)	missense	probably benign	0.22
IGL01302:Abca13	APN	11	9,349,470 (GRCm39)	splice site	probably benign
IGL01307:Abca13	APN	11	9,247,159 (GRCm39)	missense	possibly damaging	0.86
IGL01349:Abca13	APN	11	9,242,076 (GRCm39)	missense	probably benign	0.05
IGL01351:Abca13	APN	11	9,217,565 (GRCm39)	missense	probably benign	0.28
IGL01446:Abca13	APN	11	9,353,834 (GRCm39)	missense	probably damaging	0.97
IGL01453:Abca13	APN	11	9,353,834 (GRCm39)	missense	probably damaging	0.97
IGL01461:Abca13	APN	11	9,353,834 (GRCm39)	missense	probably damaging	0.97
IGL01476:Abca13	APN	11	9,353,834 (GRCm39)	missense	probably damaging	0.97
IGL01506:Abca13	APN	11	9,247,447 (GRCm39)	missense	probably benign	0.36
IGL01527:Abca13	APN	11	9,240,788 (GRCm39)	missense	possibly damaging	0.49
IGL01559:Abca13	APN	11	9,259,020 (GRCm39)	missense	possibly damaging	0.82
IGL01580:Abca13	APN	11	9,243,527 (GRCm39)	missense	probably benign	0.00
IGL01679:Abca13	APN	11	9,248,071 (GRCm39)	missense	probably benign	0.07
IGL01731:Abca13	APN	11	9,199,749 (GRCm39)	splice site	probably benign
IGL01762:Abca13	APN	11	9,265,423 (GRCm39)	missense	probably benign	0.18
IGL01781:Abca13	APN	11	9,349,280 (GRCm39)	missense	probably damaging	1.00
IGL01802:Abca13	APN	11	9,242,438 (GRCm39)	missense	probably benign	0.00
IGL01809:Abca13	APN	11	9,240,339 (GRCm39)	missense	probably damaging	0.96
IGL01906:Abca13	APN	11	9,166,225 (GRCm39)	missense	probably damaging	1.00
IGL01928:Abca13	APN	11	9,633,342 (GRCm39)	missense	probably benign	0.13
IGL01940:Abca13	APN	11	9,517,661 (GRCm39)	splice site	probably benign
IGL01993:Abca13	APN	11	9,208,452 (GRCm39)	unclassified	probably benign
IGL02039:Abca13	APN	11	9,247,193 (GRCm39)	nonsense	probably null
IGL02159:Abca13	APN	11	9,264,545 (GRCm39)	missense	probably benign	0.00
IGL02202:Abca13	APN	11	9,238,529 (GRCm39)	missense	possibly damaging	0.55
IGL02268:Abca13	APN	11	9,240,626 (GRCm39)	missense	probably benign	0.00
IGL02332:Abca13	APN	11	9,241,482 (GRCm39)	missense	probably damaging	0.98
IGL02380:Abca13	APN	11	9,241,599 (GRCm39)	missense	possibly damaging	0.73
IGL02466:Abca13	APN	11	9,247,527 (GRCm39)	missense	probably benign	0.00
IGL02505:Abca13	APN	11	9,531,498 (GRCm39)	missense	probably damaging	1.00
IGL02507:Abca13	APN	11	9,349,388 (GRCm39)	missense	probably damaging	1.00
IGL02558:Abca13	APN	11	9,349,387 (GRCm39)	missense	probably damaging	1.00
IGL02581:Abca13	APN	11	9,349,132 (GRCm39)	splice site	probably benign
IGL02586:Abca13	APN	11	9,243,983 (GRCm39)	missense	possibly damaging	0.56
IGL02598:Abca13	APN	11	9,381,898 (GRCm39)	missense	probably damaging	1.00
IGL02747:Abca13	APN	11	9,323,282 (GRCm39)	nonsense	probably null
IGL02893:Abca13	APN	11	9,240,543 (GRCm39)	missense	probably damaging	0.96
IGL02930:Abca13	APN	11	9,328,226 (GRCm39)	missense	possibly damaging	0.86
IGL02967:Abca13	APN	11	9,328,291 (GRCm39)	missense	probably damaging	0.99
IGL02983:Abca13	APN	11	9,240,663 (GRCm39)	missense	probably benign	0.40
IGL02999:Abca13	APN	11	9,531,757 (GRCm39)	splice site	probably benign
IGL03100:Abca13	APN	11	9,208,527 (GRCm39)	missense	probably benign	0.25
IGL03114:Abca13	APN	11	9,478,999 (GRCm39)	missense	probably benign	0.06
IGL03230:Abca13	APN	11	9,244,313 (GRCm39)	missense	probably benign	0.02
IGL03329:Abca13	APN	11	9,248,047 (GRCm39)	missense	probably benign	0.08
IGL03380:Abca13	APN	11	9,248,574 (GRCm39)	missense	probably benign	0.10
IGL02835:Abca13	UTSW	11	9,401,515 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Abca13	UTSW	11	9,244,962 (GRCm39)	missense	probably benign
PIT4458001:Abca13	UTSW	11	9,248,304 (GRCm39)	missense	probably benign	0.05
R0017:Abca13	UTSW	11	9,242,775 (GRCm39)	missense	probably damaging	0.99
R0079:Abca13	UTSW	11	9,243,493 (GRCm39)	missense	probably benign	0.00
R0089:Abca13	UTSW	11	9,242,886 (GRCm39)	missense	possibly damaging	0.76
R0103:Abca13	UTSW	11	9,223,951 (GRCm39)	missense	probably damaging	1.00
R0103:Abca13	UTSW	11	9,223,951 (GRCm39)	missense	probably damaging	1.00
R0113:Abca13	UTSW	11	9,242,114 (GRCm39)	missense	possibly damaging	0.54
R0119:Abca13	UTSW	11	9,248,076 (GRCm39)	missense	probably benign	0.03
R0152:Abca13	UTSW	11	9,531,724 (GRCm39)	missense	probably damaging	0.98
R0255:Abca13	UTSW	11	9,531,545 (GRCm39)	missense	probably damaging	1.00
R0277:Abca13	UTSW	11	9,244,701 (GRCm39)	missense	probably benign	0.25
R0278:Abca13	UTSW	11	9,328,215 (GRCm39)	missense	probably damaging	1.00
R0294:Abca13	UTSW	11	9,219,122 (GRCm39)	splice site	probably null
R0299:Abca13	UTSW	11	9,248,076 (GRCm39)	missense	probably benign	0.03
R0310:Abca13	UTSW	11	9,243,810 (GRCm39)	missense	probably benign	0.36
R0317:Abca13	UTSW	11	9,243,459 (GRCm39)	missense	probably damaging	1.00
R0323:Abca13	UTSW	11	9,244,701 (GRCm39)	missense	probably benign	0.25
R0324:Abca13	UTSW	11	9,247,669 (GRCm39)	missense	possibly damaging	0.76
R0329:Abca13	UTSW	11	9,349,430 (GRCm39)	missense	probably damaging	0.97
R0336:Abca13	UTSW	11	9,248,481 (GRCm39)	missense	probably benign	0.04
R0346:Abca13	UTSW	11	9,516,278 (GRCm39)	missense	probably damaging	0.99
R0380:Abca13	UTSW	11	9,538,500 (GRCm39)	splice site	probably null
R0382:Abca13	UTSW	11	9,586,650 (GRCm39)	splice site	probably benign
R0482:Abca13	UTSW	11	9,278,207 (GRCm39)	missense	possibly damaging	0.88
R0487:Abca13	UTSW	11	9,281,687 (GRCm39)	missense	probably benign	0.07
R0491:Abca13	UTSW	11	9,248,235 (GRCm39)	missense	probably benign	0.02
R0496:Abca13	UTSW	11	9,241,701 (GRCm39)	missense	probably benign	0.01
R0505:Abca13	UTSW	11	9,241,058 (GRCm39)	missense	probably benign	0.00
R0511:Abca13	UTSW	11	9,244,559 (GRCm39)	missense	probably benign
R0525:Abca13	UTSW	11	9,243,371 (GRCm39)	missense	probably damaging	1.00
R0538:Abca13	UTSW	11	9,217,622 (GRCm39)	critical splice donor site	probably null
R0615:Abca13	UTSW	11	9,206,197 (GRCm39)	missense	probably damaging	0.96
R0634:Abca13	UTSW	11	9,264,491 (GRCm39)	missense	possibly damaging	0.59
R0699:Abca13	UTSW	11	9,538,508 (GRCm39)	splice site	probably benign
R0848:Abca13	UTSW	11	9,632,011 (GRCm39)	nonsense	probably null
R0892:Abca13	UTSW	11	9,248,305 (GRCm39)	missense	probably benign	0.00
R0904:Abca13	UTSW	11	9,248,740 (GRCm39)	missense	probably benign	0.22
R0968:Abca13	UTSW	11	9,248,016 (GRCm39)	missense	probably benign	0.00
R1187:Abca13	UTSW	11	9,478,981 (GRCm39)	missense	probably benign	0.00
R1299:Abca13	UTSW	11	9,244,821 (GRCm39)	missense	possibly damaging	0.94
R1323:Abca13	UTSW	11	9,240,937 (GRCm39)	missense	possibly damaging	0.86
R1323:Abca13	UTSW	11	9,240,937 (GRCm39)	missense	possibly damaging	0.86
R1368:Abca13	UTSW	11	9,241,836 (GRCm39)	missense	probably benign
R1387:Abca13	UTSW	11	9,632,085 (GRCm39)	nonsense	probably null
R1436:Abca13	UTSW	11	9,242,646 (GRCm39)	missense	probably damaging	0.99
R1449:Abca13	UTSW	11	9,248,580 (GRCm39)	missense	probably damaging	1.00
R1450:Abca13	UTSW	11	9,380,531 (GRCm39)	splice site	probably benign
R1462:Abca13	UTSW	11	9,433,924 (GRCm39)	splice site	probably benign
R1465:Abca13	UTSW	11	9,349,303 (GRCm39)	missense	probably damaging	1.00
R1465:Abca13	UTSW	11	9,349,303 (GRCm39)	missense	probably damaging	1.00
R1466:Abca13	UTSW	11	9,520,536 (GRCm39)	splice site	probably benign
R1494:Abca13	UTSW	11	9,416,429 (GRCm39)	nonsense	probably null
R1559:Abca13	UTSW	11	9,349,180 (GRCm39)	missense	probably null	1.00
R1564:Abca13	UTSW	11	9,384,316 (GRCm39)	nonsense	probably null
R1698:Abca13	UTSW	11	9,264,507 (GRCm39)	missense	probably benign	0.13
R1728:Abca13	UTSW	11	9,199,680 (GRCm39)	missense	probably benign	0.02
R1734:Abca13	UTSW	11	9,535,460 (GRCm39)	missense	probably benign	0.03
R1781:Abca13	UTSW	11	9,219,194 (GRCm39)	missense	probably damaging	1.00
R1782:Abca13	UTSW	11	9,247,971 (GRCm39)	missense	probably benign	0.36
R1807:Abca13	UTSW	11	9,241,755 (GRCm39)	missense	probably damaging	0.98
R1830:Abca13	UTSW	11	9,240,350 (GRCm39)	missense	probably benign	0.04
R1869:Abca13	UTSW	11	9,242,134 (GRCm39)	missense	probably benign	0.19
R1870:Abca13	UTSW	11	9,242,134 (GRCm39)	missense	probably benign	0.19
R1871:Abca13	UTSW	11	9,242,134 (GRCm39)	missense	probably benign	0.19
R1903:Abca13	UTSW	11	9,416,411 (GRCm39)	missense	probably benign	0.13
R1916:Abca13	UTSW	11	9,484,456 (GRCm39)	missense	probably damaging	1.00
R1936:Abca13	UTSW	11	9,243,595 (GRCm39)	missense	probably benign	0.13
R1976:Abca13	UTSW	11	9,347,815 (GRCm39)	missense	probably damaging	1.00
R2001:Abca13	UTSW	11	9,223,967 (GRCm39)	missense	probably benign	0.01
R2007:Abca13	UTSW	11	9,141,987 (GRCm39)	missense	probably benign	0.19
R2016:Abca13	UTSW	11	9,240,619 (GRCm39)	missense	probably damaging	1.00
R2017:Abca13	UTSW	11	9,240,619 (GRCm39)	missense	probably damaging	1.00
R2034:Abca13	UTSW	11	9,242,628 (GRCm39)	missense	possibly damaging	0.83
R2051:Abca13	UTSW	11	9,278,098 (GRCm39)	missense	probably benign	0.04
R2075:Abca13	UTSW	11	9,472,382 (GRCm39)	missense	probably damaging	1.00
R2118:Abca13	UTSW	11	9,259,013 (GRCm39)	splice site	probably benign
R2120:Abca13	UTSW	11	9,259,013 (GRCm39)	splice site	probably benign
R2124:Abca13	UTSW	11	9,259,013 (GRCm39)	splice site	probably benign
R2148:Abca13	UTSW	11	9,565,764 (GRCm39)	missense	probably damaging	1.00
R2149:Abca13	UTSW	11	9,217,508 (GRCm39)	missense	possibly damaging	0.68
R2157:Abca13	UTSW	11	9,527,170 (GRCm39)	missense	probably damaging	0.97
R2167:Abca13	UTSW	11	9,238,532 (GRCm39)	missense	probably benign	0.19
R2261:Abca13	UTSW	11	9,242,288 (GRCm39)	missense	probably benign
R2263:Abca13	UTSW	11	9,224,702 (GRCm39)	missense	probably benign	0.04
R2281:Abca13	UTSW	11	9,278,136 (GRCm39)	missense	probably damaging	0.98
R2340:Abca13	UTSW	11	9,349,165 (GRCm39)	missense	probably damaging	0.99
R2357:Abca13	UTSW	11	9,247,336 (GRCm39)	missense	probably damaging	1.00
R2370:Abca13	UTSW	11	9,206,185 (GRCm39)	missense	possibly damaging	0.85
R2384:Abca13	UTSW	11	9,217,450 (GRCm39)	splice site	probably benign
R2393:Abca13	UTSW	11	9,225,057 (GRCm39)	nonsense	probably null
R2432:Abca13	UTSW	11	9,401,333 (GRCm39)	splice site	probably benign
R2446:Abca13	UTSW	11	9,225,101 (GRCm39)	missense	probably benign
R2568:Abca13	UTSW	11	9,283,310 (GRCm39)	missense	probably benign	0.40
R2847:Abca13	UTSW	11	9,244,584 (GRCm39)	missense	possibly damaging	0.59
R2860:Abca13	UTSW	11	9,259,057 (GRCm39)	missense	probably damaging	0.99
R2861:Abca13	UTSW	11	9,259,057 (GRCm39)	missense	probably damaging	0.99
R2862:Abca13	UTSW	11	9,259,057 (GRCm39)	missense	probably damaging	0.99
R2877:Abca13	UTSW	11	9,241,889 (GRCm39)	missense	possibly damaging	0.91
R2878:Abca13	UTSW	11	9,241,889 (GRCm39)	missense	possibly damaging	0.91
R3748:Abca13	UTSW	11	9,266,119 (GRCm39)	splice site	probably benign
R3789:Abca13	UTSW	11	9,460,668 (GRCm39)	missense	probably damaging	0.97
R3933:Abca13	UTSW	11	9,304,856 (GRCm39)	missense	probably damaging	1.00
R3981:Abca13	UTSW	11	9,482,407 (GRCm39)	missense	probably benign
R4002:Abca13	UTSW	11	9,535,415 (GRCm39)	missense	probably benign	0.00
R4010:Abca13	UTSW	11	9,572,013 (GRCm39)	splice site	probably benign
R4011:Abca13	UTSW	11	9,572,013 (GRCm39)	splice site	probably benign
R4127:Abca13	UTSW	11	9,141,973 (GRCm39)	missense	probably benign	0.00
R4214:Abca13	UTSW	11	9,243,877 (GRCm39)	missense	probably damaging	0.96
R4236:Abca13	UTSW	11	9,206,205 (GRCm39)	missense	probably damaging	1.00
R4237:Abca13	UTSW	11	9,384,188 (GRCm39)	missense	probably benign	0.01
R4359:Abca13	UTSW	11	9,247,629 (GRCm39)	missense	probably benign	0.02
R4378:Abca13	UTSW	11	9,243,644 (GRCm39)	missense	probably benign	0.00
R4389:Abca13	UTSW	11	9,247,878 (GRCm39)	missense	probably damaging	0.98
R4392:Abca13	UTSW	11	9,259,034 (GRCm39)	missense	possibly damaging	0.94
R4623:Abca13	UTSW	11	9,259,130 (GRCm39)	missense	probably damaging	1.00
R4684:Abca13	UTSW	11	9,384,193 (GRCm39)	nonsense	probably null
R4691:Abca13	UTSW	11	9,384,195 (GRCm39)	missense	probably damaging	1.00
R4700:Abca13	UTSW	11	9,242,306 (GRCm39)	missense	possibly damaging	0.59
R4701:Abca13	UTSW	11	9,242,306 (GRCm39)	missense	possibly damaging	0.59
R4704:Abca13	UTSW	11	9,226,990 (GRCm39)	missense	possibly damaging	0.94
R4751:Abca13	UTSW	11	9,227,973 (GRCm39)	critical splice donor site	probably null
R4772:Abca13	UTSW	11	9,265,339 (GRCm39)	splice site	probably null
R4782:Abca13	UTSW	11	9,278,096 (GRCm39)	missense	probably damaging	0.96
R4801:Abca13	UTSW	11	9,472,341 (GRCm39)	missense	possibly damaging	0.94
R4802:Abca13	UTSW	11	9,472,341 (GRCm39)	missense	possibly damaging	0.94
R4819:Abca13	UTSW	11	9,240,421 (GRCm39)	missense	possibly damaging	0.88
R4831:Abca13	UTSW	11	9,492,077 (GRCm39)	nonsense	probably null
R4851:Abca13	UTSW	11	9,433,890 (GRCm39)	missense	probably benign	0.02
R4857:Abca13	UTSW	11	9,244,143 (GRCm39)	missense	probably benign	0.22
R4869:Abca13	UTSW	11	9,265,434 (GRCm39)	splice site	probably null
R4982:Abca13	UTSW	11	9,242,348 (GRCm39)	missense	possibly damaging	0.58
R5031:Abca13	UTSW	11	9,247,678 (GRCm39)	missense	probably damaging	0.99
R5044:Abca13	UTSW	11	9,323,323 (GRCm39)	missense	possibly damaging	0.80
R5092:Abca13	UTSW	11	9,208,535 (GRCm39)	missense	probably damaging	1.00
R5155:Abca13	UTSW	11	9,482,447 (GRCm39)	missense	probably damaging	0.98
R5173:Abca13	UTSW	11	9,632,032 (GRCm39)	frame shift	probably null
R5180:Abca13	UTSW	11	9,416,510 (GRCm39)	missense	probably benign	0.01
R5244:Abca13	UTSW	11	9,225,081 (GRCm39)	missense	probably benign	0.28
R5257:Abca13	UTSW	11	9,199,684 (GRCm39)	missense	possibly damaging	0.94
R5258:Abca13	UTSW	11	9,199,684 (GRCm39)	missense	possibly damaging	0.94
R5299:Abca13	UTSW	11	9,381,861 (GRCm39)	missense	probably damaging	1.00
R5363:Abca13	UTSW	11	9,227,035 (GRCm39)	missense	possibly damaging	0.75
R5365:Abca13	UTSW	11	9,578,629 (GRCm39)	missense	probably damaging	1.00
R5419:Abca13	UTSW	11	9,143,533 (GRCm39)	critical splice donor site	probably null
R5426:Abca13	UTSW	11	9,240,722 (GRCm39)	missense	probably damaging	1.00
R5468:Abca13	UTSW	11	9,244,062 (GRCm39)	missense	probably damaging	1.00
R5477:Abca13	UTSW	11	9,251,298 (GRCm39)	missense	possibly damaging	0.49
R5541:Abca13	UTSW	11	9,241,545 (GRCm39)	missense	probably benign	0.00
R5553:Abca13	UTSW	11	9,278,158 (GRCm39)	missense	probably damaging	1.00
R5556:Abca13	UTSW	11	9,208,546 (GRCm39)	missense	possibly damaging	0.91
R5566:Abca13	UTSW	11	9,244,615 (GRCm39)	nonsense	probably null
R5582:Abca13	UTSW	11	9,586,639 (GRCm39)	splice site	probably null
R5604:Abca13	UTSW	11	9,516,279 (GRCm39)	missense	probably damaging	0.97
R5609:Abca13	UTSW	11	9,353,874 (GRCm39)	missense	probably benign	0.01
R5617:Abca13	UTSW	11	9,227,891 (GRCm39)	missense	probably benign	0.00
R5693:Abca13	UTSW	11	9,266,233 (GRCm39)	missense	probably benign	0.29
R5707:Abca13	UTSW	11	9,460,620 (GRCm39)	missense	probably damaging	1.00
R5725:Abca13	UTSW	11	9,527,181 (GRCm39)	missense	probably benign	0.00
R5728:Abca13	UTSW	11	9,520,576 (GRCm39)	missense	probably damaging	1.00
R5738:Abca13	UTSW	11	9,571,917 (GRCm39)	missense	probably damaging	1.00
R5758:Abca13	UTSW	11	9,264,536 (GRCm39)	missense	probably damaging	0.97
R5762:Abca13	UTSW	11	9,531,665 (GRCm39)	missense	probably damaging	1.00
R5771:Abca13	UTSW	11	9,241,411 (GRCm39)	missense	probably damaging	1.00
R5809:Abca13	UTSW	11	9,243,692 (GRCm39)	missense	probably damaging	1.00
R5826:Abca13	UTSW	11	9,632,056 (GRCm39)	missense	probably damaging	0.99
R5831:Abca13	UTSW	11	9,517,777 (GRCm39)	nonsense	probably null
R5834:Abca13	UTSW	11	9,227,974 (GRCm39)	critical splice donor site	probably null
R5902:Abca13	UTSW	11	9,247,177 (GRCm39)	missense	probably damaging	1.00
R5933:Abca13	UTSW	11	9,199,658 (GRCm39)	missense	possibly damaging	0.63
R5945:Abca13	UTSW	11	9,243,398 (GRCm39)	missense	probably benign	0.04
R5969:Abca13	UTSW	11	9,242,214 (GRCm39)	nonsense	probably null
R5985:Abca13	UTSW	11	9,241,628 (GRCm39)	missense	probably benign	0.02
R5998:Abca13	UTSW	11	9,517,708 (GRCm39)	missense	probably damaging	0.97
R6021:Abca13	UTSW	11	9,240,465 (GRCm39)	nonsense	probably null
R6022:Abca13	UTSW	11	9,240,759 (GRCm39)	missense	probably damaging	1.00
R6032:Abca13	UTSW	11	9,247,752 (GRCm39)	missense	possibly damaging	0.52
R6032:Abca13	UTSW	11	9,247,752 (GRCm39)	missense	possibly damaging	0.52
R6105:Abca13	UTSW	11	9,347,812 (GRCm39)	missense	probably damaging	1.00
R6153:Abca13	UTSW	11	9,251,259 (GRCm39)	critical splice acceptor site	probably null
R6162:Abca13	UTSW	11	9,259,047 (GRCm39)	missense	probably damaging	1.00
R6187:Abca13	UTSW	11	9,259,085 (GRCm39)	missense	probably damaging	1.00
R6247:Abca13	UTSW	11	9,353,874 (GRCm39)	missense	probably benign	0.01
R6329:Abca13	UTSW	11	9,227,937 (GRCm39)	missense	probably damaging	1.00
R6352:Abca13	UTSW	11	9,259,139 (GRCm39)	splice site	probably null
R6367:Abca13	UTSW	11	9,166,248 (GRCm39)	missense	possibly damaging	0.85
R6423:Abca13	UTSW	11	9,248,778 (GRCm39)	missense	probably benign	0.01
R6424:Abca13	UTSW	11	9,460,542 (GRCm39)	missense	probably benign
R6456:Abca13	UTSW	11	9,240,474 (GRCm39)	missense	possibly damaging	0.94
R6490:Abca13	UTSW	11	9,248,661 (GRCm39)	missense	probably benign	0.00
R6547:Abca13	UTSW	11	9,224,757 (GRCm39)	missense	probably benign	0.04
R6594:Abca13	UTSW	11	9,244,632 (GRCm39)	missense	possibly damaging	0.52
R6604:Abca13	UTSW	11	9,328,384 (GRCm39)	missense	probably damaging	1.00
R6614:Abca13	UTSW	11	9,244,371 (GRCm39)	missense	probably benign	0.04
R6736:Abca13	UTSW	11	9,415,058 (GRCm39)	missense	probably damaging	1.00
R6742:Abca13	UTSW	11	9,278,168 (GRCm39)	missense	probably damaging	1.00
R6791:Abca13	UTSW	11	9,328,504 (GRCm39)	missense	probably damaging	1.00
R6834:Abca13	UTSW	11	9,225,110 (GRCm39)	missense	possibly damaging	0.48
R6936:Abca13	UTSW	11	9,248,568 (GRCm39)	missense	probably damaging	0.96
R6955:Abca13	UTSW	11	9,244,307 (GRCm39)	missense	probably benign	0.28
R7031:Abca13	UTSW	11	9,571,892 (GRCm39)	missense	probably damaging	1.00
R7065:Abca13	UTSW	11	9,242,595 (GRCm39)	missense	probably benign	0.02
R7067:Abca13	UTSW	11	9,241,845 (GRCm39)	missense	probably benign	0.14
R7070:Abca13	UTSW	11	9,240,701 (GRCm39)	missense	probably benign	0.06
R7094:Abca13	UTSW	11	9,248,610 (GRCm39)	missense	probably damaging	0.96
R7102:Abca13	UTSW	11	9,285,215 (GRCm39)	missense	probably damaging	1.00
R7105:Abca13	UTSW	11	9,347,842 (GRCm39)	missense	probably damaging	1.00
R7131:Abca13	UTSW	11	9,241,893 (GRCm39)	missense	probably benign	0.37
R7155:Abca13	UTSW	11	9,479,010 (GRCm39)	missense	probably benign
R7158:Abca13	UTSW	11	9,223,982 (GRCm39)	missense	probably benign
R7212:Abca13	UTSW	11	9,248,854 (GRCm39)	missense	probably benign	0.04
R7215:Abca13	UTSW	11	9,238,405 (GRCm39)	splice site	probably null
R7228:Abca13	UTSW	11	9,247,653 (GRCm39)	missense	probably benign
R7231:Abca13	UTSW	11	9,244,175 (GRCm39)	missense	probably benign	0.25
R7247:Abca13	UTSW	11	9,240,732 (GRCm39)	missense	probably benign	0.00
R7278:Abca13	UTSW	11	9,241,126 (GRCm39)	missense	possibly damaging	0.56
R7299:Abca13	UTSW	11	9,244,649 (GRCm39)	missense	probably damaging	0.98
R7304:Abca13	UTSW	11	9,247,203 (GRCm39)	missense	probably benign
R7328:Abca13	UTSW	11	9,241,545 (GRCm39)	missense	probably benign	0.14
R7374:Abca13	UTSW	11	9,242,136 (GRCm39)	missense	possibly damaging	0.46
R7376:Abca13	UTSW	11	9,241,118 (GRCm39)	missense	probably benign	0.00
R7384:Abca13	UTSW	11	9,283,257 (GRCm39)	missense	probably damaging	1.00
R7395:Abca13	UTSW	11	9,241,658 (GRCm39)	missense	probably benign	0.01
R7419:Abca13	UTSW	11	9,247,833 (GRCm39)	missense	probably damaging	1.00
R7419:Abca13	UTSW	11	9,226,959 (GRCm39)	missense	probably damaging	1.00
R7421:Abca13	UTSW	11	9,460,463 (GRCm39)	missense	probably benign
R7458:Abca13	UTSW	11	9,240,777 (GRCm39)	missense	possibly damaging	0.94
R7474:Abca13	UTSW	11	9,278,088 (GRCm39)	nonsense	probably null
R7492:Abca13	UTSW	11	9,243,167 (GRCm39)	missense	probably benign	0.08
R7660:Abca13	UTSW	11	9,240,678 (GRCm39)	missense	probably benign	0.00
R7677:Abca13	UTSW	11	9,248,349 (GRCm39)	nonsense	probably null
R7744:Abca13	UTSW	11	9,240,421 (GRCm39)	missense	possibly damaging	0.88
R7790:Abca13	UTSW	11	9,247,915 (GRCm39)	missense	probably damaging	1.00
R7798:Abca13	UTSW	11	9,241,664 (GRCm39)	missense	probably benign	0.04
R7811:Abca13	UTSW	11	9,527,141 (GRCm39)	splice site	probably null
R7831:Abca13	UTSW	11	9,247,404 (GRCm39)	missense	possibly damaging	0.46
R7867:Abca13	UTSW	11	9,212,139 (GRCm39)	critical splice donor site	probably null
R7910:Abca13	UTSW	11	9,531,590 (GRCm39)	missense	probably damaging	1.00
R7964:Abca13	UTSW	11	9,266,146 (GRCm39)	missense	probably benign	0.06
R8037:Abca13	UTSW	11	9,243,904 (GRCm39)	missense	probably damaging	1.00
R8049:Abca13	UTSW	11	9,241,867 (GRCm39)	missense	probably damaging	0.99
R8059:Abca13	UTSW	11	9,323,279 (GRCm39)	missense	probably benign	0.00
R8072:Abca13	UTSW	11	9,244,574 (GRCm39)	missense	probably benign	0.10
R8078:Abca13	UTSW	11	9,251,279 (GRCm39)	missense	probably benign	0.32
R8112:Abca13	UTSW	11	9,264,624 (GRCm39)	missense	probably benign	0.01
R8146:Abca13	UTSW	11	9,347,829 (GRCm39)	missense	probably damaging	1.00
R8164:Abca13	UTSW	11	9,565,799 (GRCm39)	missense	probably damaging	1.00
R8195:Abca13	UTSW	11	9,224,735 (GRCm39)	missense	probably benign	0.00
R8220:Abca13	UTSW	11	9,384,299 (GRCm39)	missense	possibly damaging	0.58
R8235:Abca13	UTSW	11	9,212,077 (GRCm39)	missense	probably damaging	0.99
R8307:Abca13	UTSW	11	9,227,922 (GRCm39)	nonsense	probably null
R8310:Abca13	UTSW	11	9,328,269 (GRCm39)	missense	possibly damaging	0.90
R8315:Abca13	UTSW	11	9,535,502 (GRCm39)	missense	probably benign	0.44
R8315:Abca13	UTSW	11	9,328,460 (GRCm39)	missense	probably null	1.00
R8324:Abca13	UTSW	11	9,240,395 (GRCm39)	missense	probably damaging	1.00
R8375:Abca13	UTSW	11	9,347,841 (GRCm39)	missense	probably damaging	1.00
R8375:Abca13	UTSW	11	9,265,416 (GRCm39)	missense	probably benign	0.00
R8400:Abca13	UTSW	11	9,248,218 (GRCm39)	missense	probably damaging	0.97
R8400:Abca13	UTSW	11	9,243,925 (GRCm39)	missense	probably benign	0.00
R8425:Abca13	UTSW	11	9,264,623 (GRCm39)	missense	possibly damaging	0.92
R8486:Abca13	UTSW	11	9,225,092 (GRCm39)	missense	probably benign	0.00
R8493:Abca13	UTSW	11	9,460,668 (GRCm39)	missense	probably damaging	0.97
R8502:Abca13	UTSW	11	9,219,282 (GRCm39)	missense	probably benign	0.02
R8716:Abca13	UTSW	11	9,243,774 (GRCm39)	missense	probably benign	0.09
R8787:Abca13	UTSW	11	9,225,053 (GRCm39)	missense	possibly damaging	0.92
R8829:Abca13	UTSW	11	9,571,881 (GRCm39)	missense	probably damaging	1.00
R8859:Abca13	UTSW	11	9,328,397 (GRCm39)	missense
R8871:Abca13	UTSW	11	9,248,071 (GRCm39)	missense	probably benign	0.07
R8883:Abca13	UTSW	11	9,283,168 (GRCm39)	missense	probably benign	0.00
R8919:Abca13	UTSW	11	9,241,653 (GRCm39)	missense	possibly damaging	0.84
R8966:Abca13	UTSW	11	9,578,588 (GRCm39)	missense	probably damaging	1.00
R8967:Abca13	UTSW	11	9,242,696 (GRCm39)	missense	probably benign	0.18
R8969:Abca13	UTSW	11	9,227,944 (GRCm39)	missense	probably benign
R8972:Abca13	UTSW	11	9,278,138 (GRCm39)	missense	probably damaging	1.00
R9002:Abca13	UTSW	11	9,241,926 (GRCm39)	missense	possibly damaging	0.94
R9046:Abca13	UTSW	11	9,243,525 (GRCm39)	missense	probably benign	0.04
R9051:Abca13	UTSW	11	9,285,232 (GRCm39)	missense	probably damaging	1.00
R9056:Abca13	UTSW	11	9,414,921 (GRCm39)	missense	probably damaging	1.00
R9061:Abca13	UTSW	11	9,227,847 (GRCm39)	missense	probably benign	0.02
R9072:Abca13	UTSW	11	9,240,834 (GRCm39)	missense	possibly damaging	0.93
R9090:Abca13	UTSW	11	9,241,698 (GRCm39)	missense	probably damaging	0.98
R9127:Abca13	UTSW	11	9,242,080 (GRCm39)	missense	probably benign	0.03
R9164:Abca13	UTSW	11	9,278,157 (GRCm39)	missense	probably damaging	1.00
R9175:Abca13	UTSW	11	9,531,593 (GRCm39)	missense	probably damaging	0.98
R9190:Abca13	UTSW	11	9,241,886 (GRCm39)	missense	probably damaging	0.96
R9244:Abca13	UTSW	11	9,241,577 (GRCm39)	missense	probably benign	0.01
R9255:Abca13	UTSW	11	9,278,213 (GRCm39)	missense	probably damaging	1.00
R9271:Abca13	UTSW	11	9,241,698 (GRCm39)	missense	probably damaging	0.98
R9321:Abca13	UTSW	11	9,460,475 (GRCm39)	missense	probably benign	0.00
R9356:Abca13	UTSW	11	9,206,305 (GRCm39)	missense	probably benign	0.11
R9369:Abca13	UTSW	11	9,328,444 (GRCm39)	missense	probably damaging	1.00
R9423:Abca13	UTSW	11	9,240,395 (GRCm39)	missense	probably damaging	1.00
R9432:Abca13	UTSW	11	9,244,559 (GRCm39)	missense	probably benign	0.00
R9455:Abca13	UTSW	11	9,353,897 (GRCm39)	missense	probably damaging	1.00
R9486:Abca13	UTSW	11	9,240,621 (GRCm39)	missense	possibly damaging	0.88
R9492:Abca13	UTSW	11	9,243,667 (GRCm39)	nonsense	probably null
R9511:Abca13	UTSW	11	9,278,130 (GRCm39)	missense	probably benign	0.16
R9545:Abca13	UTSW	11	9,416,538 (GRCm39)	missense	probably damaging	1.00
R9566:Abca13	UTSW	11	9,414,927 (GRCm39)	missense	probably damaging	1.00
R9609:Abca13	UTSW	11	9,208,549 (GRCm39)	missense	probably damaging	1.00
R9616:Abca13	UTSW	11	9,240,501 (GRCm39)	missense	probably benign	0.00
R9651:Abca13	UTSW	11	9,535,484 (GRCm39)	missense	probably benign
R9651:Abca13	UTSW	11	9,243,741 (GRCm39)	missense	probably benign	0.31
R9653:Abca13	UTSW	11	9,243,741 (GRCm39)	missense	probably benign	0.31
R9657:Abca13	UTSW	11	9,243,379 (GRCm39)	missense	probably benign	0.35
R9684:Abca13	UTSW	11	9,283,307 (GRCm39)	missense	probably damaging	1.00
X0013:Abca13	UTSW	11	9,223,899 (GRCm39)	missense	probably benign	0.02
X0057:Abca13	UTSW	11	9,244,744 (GRCm39)	missense	probably damaging	0.96
X0066:Abca13	UTSW	11	9,217,565 (GRCm39)	missense	probably damaging	0.96
Z1088:Abca13	UTSW	11	9,244,687 (GRCm39)	missense	probably damaging	0.99
Z1176:Abca13	UTSW	11	9,217,461 (GRCm39)	missense	probably damaging	1.00
Z1176:Abca13	UTSW	11	9,201,376 (GRCm39)	missense	possibly damaging	0.88
Z1176:Abca13	UTSW	11	9,285,182 (GRCm39)	missense	probably damaging	1.00
Z1176:Abca13	UTSW	11	9,285,181 (GRCm39)	missense	probably damaging	1.00
Z1176:Abca13	UTSW	11	9,244,342 (GRCm39)	missense	probably benign	0.01
Z1177:Abca13	UTSW	11	9,264,545 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GCTTTCTGACACAGGAGCAAGTCTC -3'
(R):5'- CCTGAATGAAGCATTCACTCGCCAC -3'

Sequencing Primer
(F):5'- GGAGCAAGTCTCAATAGCTCTG -3'
(R):5'- ACTAGAGTTGCTGCTGAACC -3'

Protein Function and Prediction

Abca13 encodes ABCA13, a member of the ATP-binding cassette (ABC) transporter superfamily. The members of the ABCA subfamily share a high degree of sequence conservation and function in lipid trafficking in several body locations [reviewed in (1)]. ABCA13 has two transmembrane domains, each with six membrane-spanning segments, and two nucleotide-binding domains located in the cytoplasm (2). Due to ubiquitous expression of Abca13 in blood-derived cells, a role associated with hematopoiesis has been suggested for ABCA13. However, the exact function and substrates for ABCA13 remain to be determined [reviewed in (1)].

Expression/Localization

ABCA13 is expressed at high levels in the trachea, testis, and bone marrow. In the mouse, PCR analysis detected Abca13 is expressed in the kidney and skeletal muscle (2).

Background

ABCA13 was identified as a susceptibility factor for schizophrenia, bipolar disorder, and major depression (3). In humans, ABCA13 maps to chromosome 7p12.3, a region linked to Schwachman-Diamond syndrome, a genetic disorder affecting the pancreas, and a locus involved in T-cell tumor invasion and cancer metastasis [reviewed in (1)]. High levels of ABCA13 are found in leukemia, prostate tumor, and CNS tumor cell lines [reviewed in (1)].

References

1. Albrecht, C., and Viturro, E. (2007) The ABCA Subfamily--Gene and Protein Structures, Functions and Associated Hereditary Diseases. Pflugers Arch. 453, 581-589.

2. Prades, C., Arnould, I., Annilo, T., Shulenin, S., Chen, Z. Q., Orosco, L., Triunfol, M., Devaud, C., Maintoux-Larois, C., Lafargue, C., Lemoine, C., Denefle, P., Rosier, M., and Dean, M. (2002) The Human ATP Binding Cassette Gene ABCA13, Located on Chromosome 7p12.3, Encodes a 5058 Amino Acid Protein with an Extracellular Domain Encoded in Part by a 4.8-Kb Conserved Exon. Cytogenet Genome Res. 98, 160-168.

3. Knight, H. M., Pickard, B. S., Maclean, A., Malloy, M. P., Soares, D. C., McRae, A. F., Condie, A., White, A., Hawkins, W., McGhee, K., van Beck, M., MacIntyre, D. J., Starr, J. M., Deary, I. J., Visscher, P. M., Porteous, D. J., Cannon, R. E., St Clair, D., Muir, W. J., and Blackwood, D. H. (2009) A Cytogenetic Abnormality and Rare Coding Variants Identify ABCA13 as a Candidate Gene in Schizophrenia, Bipolar Disorder, and Depression. Am J Hum Genet. 85, 833-846.

Posted On

2013-11-07

Science Writer

Anne Murray