Mutagenetix > Incidental Mutation

Incidental Mutation 'R0511:Abca13'

46935

Institutional Source

Beutler Lab

Gene Symbol

Abca13

Ensembl Gene

ENSMUSG00000004668

Gene Name

ATP-binding cassette, sub-family A member 13

Synonyms

A930002G16Rik

MMRRC Submission

038705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9141942-9634259 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 9244559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 2141 (V2141L)

Ref Sequence

ENSEMBL: ENSMUSP00000040465 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042740
AA Change: V2141L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040465
Gene: ENSMUSG00000004668
AA Change: V2141L

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

0.0759

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (116/116)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,843,771 (GRCm39)	H155R	possibly damaging	Het
Adam17	T	C	12: 21,390,459 (GRCm39)		probably benign	Het
Adam3	A	T	8: 25,185,331 (GRCm39)	C456S	probably damaging	Het
Aldh4a1	G	T	4: 139,369,882 (GRCm39)		probably benign	Het
Anapc4	A	G	5: 52,999,359 (GRCm39)		probably benign	Het
Ank3	A	T	10: 69,718,198 (GRCm39)	Q483L	probably damaging	Het
Ankle2	A	G	5: 110,389,925 (GRCm39)		probably benign	Het
Ankrd13b	T	A	11: 77,364,114 (GRCm39)	T150S	possibly damaging	Het
Apeh	A	G	9: 107,964,254 (GRCm39)	M524T	probably benign	Het
Arl14epl	T	A	18: 47,059,484 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,302,569 (GRCm39)	F964S	possibly damaging	Het
Atg2b	C	T	12: 105,583,412 (GRCm39)	V2050M	probably damaging	Het
Atp2b4	A	T	1: 133,659,956 (GRCm39)		probably benign	Het
Bbof1	T	A	12: 84,477,045 (GRCm39)	S512T	probably benign	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Car10	T	C	11: 93,381,408 (GRCm39)	Y100H	probably damaging	Het
Ccdc81	T	A	7: 89,542,504 (GRCm39)	E124V	probably damaging	Het
Cd84	A	G	1: 171,700,494 (GRCm39)	T204A	probably benign	Het
Celf2	A	G	2: 6,608,987 (GRCm39)	S178P	probably damaging	Het
Chat	G	A	14: 32,130,976 (GRCm39)	T555M	probably damaging	Het
Chd6	A	G	2: 160,834,111 (GRCm39)	F917S	probably damaging	Het
Chrna2	C	A	14: 66,386,553 (GRCm39)	T233N	probably damaging	Het
Cnpy2	T	C	10: 128,162,054 (GRCm39)	V109A	probably benign	Het
Col4a1	T	C	8: 11,258,333 (GRCm39)		probably null	Het
Csmd1	C	T	8: 15,982,529 (GRCm39)	V2713M	possibly damaging	Het
Cuedc1	G	A	11: 88,074,231 (GRCm39)	R255Q	probably damaging	Het
Cxcl15	A	T	5: 90,945,897 (GRCm39)		probably benign	Het
Dach1	A	T	14: 98,138,765 (GRCm39)	H559Q	possibly damaging	Het
Dele1	T	C	18: 38,387,124 (GRCm39)		probably null	Het
Dennd4c	C	T	4: 86,744,259 (GRCm39)	T1367M	probably damaging	Het
Depdc5	T	A	5: 33,102,372 (GRCm39)	Y365*	probably null	Het
Dicer1	T	C	12: 104,669,100 (GRCm39)	Y1194C	possibly damaging	Het
Dmxl1	C	G	18: 50,024,534 (GRCm39)	S1736*	probably null	Het
Dnah7a	C	T	1: 53,536,285 (GRCm39)	R2586K	probably benign	Het
Dnajb8	T	C	6: 88,199,467 (GRCm39)	M1T	probably null	Het
Dync2h1	G	A	9: 7,122,692 (GRCm39)	P2088L	probably benign	Het
Eftud2	T	G	11: 102,735,048 (GRCm39)	H617P	probably damaging	Het
Ephb1	A	G	9: 101,873,179 (GRCm39)		probably benign	Het
Fam184a	G	T	10: 53,574,975 (GRCm39)	H155Q	probably benign	Het
Firrm	T	C	1: 163,799,412 (GRCm39)		probably null	Het
Ganc	G	T	2: 120,278,882 (GRCm39)	E700*	probably null	Het
Gm10912	A	G	2: 103,897,290 (GRCm39)		probably benign	Het
Haus5	A	T	7: 30,358,492 (GRCm39)	I294N	probably damaging	Het
Hmgcr	G	T	13: 96,796,651 (GRCm39)		probably null	Het
Hr	T	A	14: 70,799,352 (GRCm39)	C641*	probably null	Het
Itga10	A	G	3: 96,565,490 (GRCm39)	N1038S	probably damaging	Het
Itgb1bp1	T	G	12: 21,321,436 (GRCm39)	Y172S	probably damaging	Het
Kprp	T	C	3: 92,732,030 (GRCm39)	N340S	probably damaging	Het
Kremen1	A	G	11: 5,165,447 (GRCm39)	I41T	probably damaging	Het
Krt6b	A	G	15: 101,586,042 (GRCm39)		probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Ldhd	A	G	8: 112,356,309 (GRCm39)	Y86H	probably benign	Het
Lilra6	A	T	7: 3,915,784 (GRCm39)	I76N	possibly damaging	Het
Mak	T	C	13: 41,199,743 (GRCm39)	T299A	probably benign	Het
Med25	A	G	7: 44,534,502 (GRCm39)		probably null	Het
Mpg	A	T	11: 32,180,039 (GRCm39)	N189I	probably damaging	Het
Mroh8	A	G	2: 157,071,838 (GRCm39)	Y556H	probably damaging	Het
Myh8	T	A	11: 67,175,333 (GRCm39)	S294T	probably benign	Het
Myom1	T	A	17: 71,391,312 (GRCm39)	D842E	probably benign	Het
Myorg	A	G	4: 41,498,538 (GRCm39)	F364S	probably damaging	Het
Nat2	C	T	8: 67,953,982 (GRCm39)	Q31*	probably null	Het
Nf1	T	A	11: 79,329,595 (GRCm39)	M653K	probably benign	Het
Nhs	C	A	X: 160,620,355 (GRCm39)	R1467I	probably damaging	Het
Npr2	A	G	4: 43,632,801 (GRCm39)	E206G	probably benign	Het
Nsd3	G	A	8: 26,168,732 (GRCm39)	G629D	possibly damaging	Het
Nwd1	G	A	8: 73,408,633 (GRCm39)	C831Y	probably damaging	Het
Or52r1c	T	C	7: 102,735,058 (GRCm39)	I111T	probably damaging	Het
Or5t9	A	G	2: 86,659,950 (GRCm39)	I285V	probably benign	Het
P2ry14	A	G	3: 59,023,449 (GRCm39)	S4P	possibly damaging	Het
Parp4	A	G	14: 56,873,172 (GRCm39)		probably benign	Het
Pate14	A	T	9: 36,549,873 (GRCm39)		probably null	Het
Pclo	A	G	5: 14,728,299 (GRCm39)		probably benign	Het
Pclo	T	C	5: 14,729,412 (GRCm39)		probably benign	Het
Pcnt	A	T	10: 76,240,429 (GRCm39)	S1202T	possibly damaging	Het
Pfkfb4	A	G	9: 108,856,825 (GRCm39)	Y412C	probably damaging	Het
Pgm2	T	A	5: 64,267,898 (GRCm39)	V449D	probably damaging	Het
Poldip3	T	A	15: 83,022,436 (GRCm39)	D116V	probably damaging	Het
Pom121	G	T	5: 135,410,686 (GRCm39)	Q824K	unknown	Het
Prkdc	G	T	16: 15,649,146 (GRCm39)	G3707*	probably null	Het
Prr14l	T	C	5: 33,001,560 (GRCm39)		probably benign	Het
Ptbp2	T	G	3: 119,514,613 (GRCm39)	I405L	probably benign	Het
Rad21l	A	T	2: 151,490,989 (GRCm39)		probably benign	Het
Rbm6	G	A	9: 107,724,488 (GRCm39)	Q488*	probably null	Het
Rdh1	T	A	10: 127,600,652 (GRCm39)	M225K	probably benign	Het
Recql5	T	C	11: 115,819,209 (GRCm39)	D119G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo1	T	C	16: 72,810,013 (GRCm39)		probably null	Het
Samd12	G	A	15: 53,723,567 (GRCm39)	T42I	probably benign	Het
Scn10a	A	T	9: 119,442,766 (GRCm39)	M1494K	probably damaging	Het
Sec31a	G	A	5: 100,523,099 (GRCm39)	P864L	probably benign	Het
Senp2	T	C	16: 21,855,320 (GRCm39)	V344A	probably benign	Het
Serpina5	G	A	12: 104,069,621 (GRCm39)	D278N	probably benign	Het
Sh3tc1	A	T	5: 35,860,806 (GRCm39)	V1017D	probably damaging	Het
Sin3a	T	A	9: 57,004,179 (GRCm39)	Y310*	probably null	Het
Slc25a32	T	C	15: 38,960,940 (GRCm39)	T248A	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc4a10	G	A	2: 62,117,206 (GRCm39)	V722M	probably damaging	Het
Slco1a4	A	G	6: 141,776,586 (GRCm39)		probably benign	Het
Smg6	T	A	11: 74,819,884 (GRCm39)	Y52N	probably damaging	Het
Sncb	T	G	13: 54,913,400 (GRCm39)	T33P	probably damaging	Het
Spef2	A	G	15: 9,584,070 (GRCm39)		probably null	Het
Spmip1	G	T	6: 29,478,169 (GRCm39)		probably benign	Het
Sugp1	A	G	8: 70,512,013 (GRCm39)	E203G	probably damaging	Het
Suv39h2	A	T	2: 3,473,616 (GRCm39)	C105S	probably damaging	Het
Tlr1	A	T	5: 65,083,963 (GRCm39)	F205I	probably damaging	Het
Tnip1	A	T	11: 54,808,699 (GRCm39)	M496K	probably damaging	Het
Tnxb	G	A	17: 34,937,219 (GRCm39)	E2889K	probably damaging	Het
Trim30b	T	A	7: 104,015,010 (GRCm39)	H126L	possibly damaging	Het
Trpm7	A	T	2: 126,668,638 (GRCm39)	Y759*	probably null	Het
Ttc17	A	G	2: 94,153,465 (GRCm39)	I1000T	possibly damaging	Het
Ttc27	A	T	17: 75,025,710 (GRCm39)	N61I	probably benign	Het
Uba6	T	C	5: 86,260,609 (GRCm39)	Y990C	probably damaging	Het
Vav3	A	G	3: 109,571,756 (GRCm39)		probably benign	Het
Vmn2r55	C	T	7: 12,404,945 (GRCm39)	A153T	possibly damaging	Het
Wars2	A	G	3: 99,123,865 (GRCm39)	D242G	probably damaging	Het
Xylt2	G	A	11: 94,560,762 (GRCm39)	Q259*	probably null	Het
Zfp27	G	A	7: 29,593,947 (GRCm39)	P673S	probably damaging	Het
Zgrf1	T	C	3: 127,378,309 (GRCm39)	I1023T	possibly damaging	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
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
R0883:Abca13	UTSW	11	9,241,238 (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'- GGTCTTCAAAACACCACTGTGCAAC -3'
(R):5'- CTGGAAGCTGCTTCAGGAAATCCTC -3'

Sequencing Primer
(F):5'- GTGCAACTTCCTCAACTTCTGG -3'
(R):5'- CGCGTGCTTCAAGATGAGATTC -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. ABCA13 has two transmembrane domains, each with six membrane-spanning segments, and two nucleotide-binding domains located in the cytoplasm. 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 deterimined.

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.

ABCA13 was identified as a susceptibility factor for schizophrenia, bipolar disorder, and major depression. 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. High levels of ABCA13 are found in leukemia, prostate tumor, and CNS tumor cell lines.

Posted On

2013-06-11