Mutagenetix > Incidental Mutation

Incidental Mutation 'R6852:Abca4'

535007

Institutional Source

Beutler Lab

Gene Symbol

Abca4

Ensembl Gene

ENSMUSG00000028125

Gene Name

ATP-binding cassette, sub-family A member 4

Synonyms

Rim protein, RmP, D430003I15Rik, Abc10

MMRRC Submission

045023-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6852 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121838092-121973772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121928844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 144 (Q144H)

Ref Sequence

ENSEMBL: ENSMUSP00000143560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013995] [ENSMUST00000141135]

AlphaFold

O35600

Predicted Effect

probably damaging
Transcript: ENSMUST00000013995
AA Change: Q1352H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000013995
Gene: ENSMUSG00000028125
AA Change: Q1352H

Domain	Start	End	E-Value	Type
transmembrane domain	23	42	N/A	INTRINSIC
Pfam:ABC2_membrane_3	608	856	5e-17	PFAM
AAA	955	1145	9.42e-13	SMART
transmembrane domain	1372	1394	N/A	INTRINSIC
Pfam:ABC2_membrane_3	1522	1894	2.9e-44	PFAM
AAA	1963	2147	7.09e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000141135
AA Change: Q144H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143560
Gene: ENSMUSG00000028125
AA Change: Q144H

Domain	Start	End	E-Value	Type
Blast:AAA	1	172	9e-78	BLAST
Pfam:ABC2_membrane_3	311	686	1.9e-42	PFAM
AAA	755	939	1.2e-9	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein was the first of the ABC transporters to be observed in photoreceptors and may play a role in the photoresponse. Mutations in the human gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(4)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,770,930 (GRCm39)	Q40*	probably null	Het
1700034E13Rik	T	C	18: 52,796,705 (GRCm39)	V81A	probably damaging	Het
A630089N07Rik	A	G	16: 97,866,855 (GRCm39)	I369T	probably benign	Het
Aatk	T	A	11: 119,901,294 (GRCm39)	Q977L	probably benign	Het
Ampd3	T	C	7: 110,401,753 (GRCm39)	F416L	probably benign	Het
Anks1b	A	G	10: 90,096,516 (GRCm39)	E425G	probably damaging	Het
Atm	A	G	9: 53,393,730 (GRCm39)	S1737P	possibly damaging	Het
Bsph1	T	A	7: 13,204,255 (GRCm39)		probably null	Het
Cabyr	C	T	18: 12,887,154 (GRCm39)	P262S	probably benign	Het
Cdc14a	G	A	3: 116,122,325 (GRCm39)	P214L	possibly damaging	Het
Cep128	C	A	12: 91,333,116 (GRCm39)		probably null	Het
Cfh	T	A	1: 140,075,487 (GRCm39)	R250S	probably damaging	Het
Ddx39a	T	C	8: 84,449,646 (GRCm39)	I417T	probably benign	Het
Dgka	T	A	10: 128,558,408 (GRCm39)	K548M	probably damaging	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Elapor1	T	C	3: 108,389,654 (GRCm39)	E203G	probably damaging	Het
Epg5	C	T	18: 78,056,106 (GRCm39)	T1760I	probably damaging	Het
Fat1	T	C	8: 45,488,635 (GRCm39)	V3472A	possibly damaging	Het
Fbxo48	T	A	11: 16,903,402 (GRCm39)	N9K	probably benign	Het
Fcgbpl1	T	A	7: 27,846,560 (GRCm39)	I1084N	probably damaging	Het
Fer1l6	A	T	15: 58,466,727 (GRCm39)	H833L	probably damaging	Het
Foxn1	G	T	11: 78,251,786 (GRCm39)	Q482K	probably benign	Het
Fstl5	A	G	3: 76,615,162 (GRCm39)	D741G	probably damaging	Het
Gmip	C	T	8: 70,270,641 (GRCm39)	Q55*	probably null	Het
H2-T5	T	C	17: 36,478,965 (GRCm39)	N95D	possibly damaging	Het
Hapln2	G	A	3: 87,929,958 (GRCm39)	T306M	possibly damaging	Het
Kat6a	T	A	8: 23,428,676 (GRCm39)	S1344T	probably benign	Het
Kctd1	C	T	18: 15,119,401 (GRCm39)	D705N	possibly damaging	Het
Lhx9	ACC	ACCC	1: 138,769,544 (GRCm39)		probably null	Het
Micall2	G	T	5: 139,701,548 (GRCm39)	A482D	possibly damaging	Het
Mindy3	T	A	2: 12,424,063 (GRCm39)	M1L	possibly damaging	Het
Mtdh	A	G	15: 34,136,867 (GRCm39)	E352G	probably damaging	Het
Muc5ac	G	A	7: 141,370,644 (GRCm39)	V3219I	probably benign	Het
Myh4	A	G	11: 67,143,794 (GRCm39)		probably null	Het
Ncor1	A	G	11: 62,234,071 (GRCm39)	I377T	probably damaging	Het
Oog4	C	A	4: 143,165,679 (GRCm39)	C156F	possibly damaging	Het
Or5m9	A	T	2: 85,876,948 (GRCm39)	I41F	probably benign	Het
Pcyt1a	T	C	16: 32,288,938 (GRCm39)	S260P	probably damaging	Het
Phf3	A	T	1: 30,843,711 (GRCm39)	F1749L	probably damaging	Het
Prickle2	T	C	6: 92,353,525 (GRCm39)	D647G	probably benign	Het
Raver2	T	C	4: 100,990,787 (GRCm39)	S387P	probably benign	Het
Relch	T	C	1: 105,681,320 (GRCm39)	L1184P	probably damaging	Het
Rgs19	A	G	2: 181,330,941 (GRCm39)	S231P	possibly damaging	Het
Rpl8	G	T	15: 76,790,149 (GRCm39)	R198L	probably benign	Het
Sacs	T	A	14: 61,416,737 (GRCm39)	S77T	possibly damaging	Het
Samd14	G	A	11: 94,912,280 (GRCm39)	G219D	probably damaging	Het
Sec16a	C	T	2: 26,331,431 (GRCm39)	V195M	probably damaging	Het
Sesn2	C	T	4: 132,221,113 (GRCm39)	V453I	possibly damaging	Het
Slc46a3	A	T	5: 147,822,970 (GRCm39)	C291S	probably damaging	Het
Smarcal1	A	G	1: 72,630,332 (GRCm39)	T129A	possibly damaging	Het
Sorl1	T	A	9: 41,935,694 (GRCm39)	R1041W	possibly damaging	Het
Sptlc3	T	C	2: 139,408,506 (GRCm39)	I207T	probably benign	Het
Srgap3	T	C	6: 112,793,622 (GRCm39)	D118G	probably damaging	Het
Tas2r117	T	A	6: 132,779,892 (GRCm39)	V10D	probably benign	Het
Tbcd	A	G	11: 121,500,206 (GRCm39)	K1111E	probably benign	Het
Tor1aip1	A	T	1: 155,911,566 (GRCm39)	L139Q	probably damaging	Het
Trbv23	T	C	6: 41,193,181 (GRCm39)	V23A	probably damaging	Het
Ttll3	AAGTA	AAGTATAGTA	6: 113,376,120 (GRCm39)		probably null	Het
Ttll3	GGCAAAG	GGCAAAGCAAAG	6: 113,376,116 (GRCm39)		probably null	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vmn1r42	T	G	6: 89,821,769 (GRCm39)	T267P	possibly damaging	Het
Vmn2r53	C	A	7: 12,340,441 (GRCm39)	V11F	probably damaging	Het
Vmn2r67	T	C	7: 84,801,361 (GRCm39)	M192V	probably damaging	Het
Vmn2r78	T	C	7: 86,603,811 (GRCm39)	V663A	probably damaging	Het
Zdhhc1	C	T	8: 106,203,704 (GRCm39)	G156S	possibly damaging	Het
Zfp318	AGAAG	AGAAGAGGAAG	17: 46,723,464 (GRCm39)		probably benign	Het
Zfp318	GAAGAA	GAAGAAAAAGAA	17: 46,723,459 (GRCm39)		probably benign	Het
Zfp318	AAGAAG	AAGAAGTAGAAG	17: 46,723,460 (GRCm39)		probably benign	Het
Zfp560	A	G	9: 20,259,339 (GRCm39)	C508R	probably damaging	Het
Zfp654	G	A	16: 64,606,961 (GRCm39)	L414F	probably damaging	Het
Zfp872	A	T	9: 22,111,355 (GRCm39)	Y278F	probably damaging	Het
Zscan20	T	C	4: 128,483,515 (GRCm39)	S385G	probably damaging	Het

Other mutations in Abca4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Abca4	APN	3	121,856,353 (GRCm39)	splice site	probably null
IGL00229:Abca4	APN	3	121,964,603 (GRCm39)	missense	probably damaging	1.00
IGL00858:Abca4	APN	3	121,967,537 (GRCm39)	missense	probably damaging	0.97
IGL01316:Abca4	APN	3	121,935,404 (GRCm39)	missense	probably damaging	0.99
IGL01357:Abca4	APN	3	121,897,232 (GRCm39)	missense	probably damaging	1.00
IGL01784:Abca4	APN	3	121,932,154 (GRCm39)	missense	probably benign	0.22
IGL01903:Abca4	APN	3	121,949,050 (GRCm39)	splice site	probably benign
IGL02008:Abca4	APN	3	121,969,750 (GRCm39)	missense	probably benign	0.00
IGL02113:Abca4	APN	3	121,904,127 (GRCm39)	missense	possibly damaging	0.90
IGL02142:Abca4	APN	3	121,963,575 (GRCm39)	missense	probably benign	0.01
IGL02200:Abca4	APN	3	121,862,663 (GRCm39)	missense	probably benign	0.00
IGL02203:Abca4	APN	3	121,973,457 (GRCm39)	missense	probably benign
IGL02306:Abca4	APN	3	121,952,044 (GRCm39)	missense	probably damaging	1.00
IGL02307:Abca4	APN	3	121,935,395 (GRCm39)	missense	probably damaging	1.00
IGL02673:Abca4	APN	3	121,897,150 (GRCm39)	missense	probably damaging	1.00
IGL02864:Abca4	APN	3	121,937,080 (GRCm39)	missense	probably damaging	1.00
IGL02886:Abca4	APN	3	121,921,863 (GRCm39)	missense	probably damaging	0.96
IGL02934:Abca4	APN	3	121,956,008 (GRCm39)	nonsense	probably null
IGL02992:Abca4	APN	3	121,921,935 (GRCm39)	missense	probably damaging	0.96
IGL03083:Abca4	APN	3	121,932,261 (GRCm39)	critical splice donor site	probably null
IGL03258:Abca4	APN	3	121,931,210 (GRCm39)	splice site	probably benign
IGL03279:Abca4	APN	3	121,935,381 (GRCm39)	missense	probably benign	0.12
3-1:Abca4	UTSW	3	121,874,574 (GRCm39)	missense	probably benign	0.01
B6819:Abca4	UTSW	3	121,897,273 (GRCm39)	splice site	probably benign
K7894:Abca4	UTSW	3	121,941,517 (GRCm39)	frame shift	probably null
PIT4151001:Abca4	UTSW	3	121,930,670 (GRCm39)	missense	probably damaging	0.99
PIT4453001:Abca4	UTSW	3	121,898,965 (GRCm39)	missense	probably damaging	0.99
R0001:Abca4	UTSW	3	121,874,660 (GRCm39)	splice site	probably benign
R0091:Abca4	UTSW	3	121,932,179 (GRCm39)	missense	possibly damaging	0.94
R0138:Abca4	UTSW	3	121,899,098 (GRCm39)	missense	probably damaging	1.00
R0344:Abca4	UTSW	3	121,877,613 (GRCm39)	missense	probably damaging	1.00
R0347:Abca4	UTSW	3	121,913,748 (GRCm39)	missense	probably benign	0.00
R0508:Abca4	UTSW	3	121,917,200 (GRCm39)	splice site	probably benign
R0607:Abca4	UTSW	3	121,950,081 (GRCm39)	missense	probably damaging	1.00
R0835:Abca4	UTSW	3	121,919,862 (GRCm39)	missense	probably damaging	1.00
R0839:Abca4	UTSW	3	121,920,527 (GRCm39)	missense	probably damaging	0.99
R1138:Abca4	UTSW	3	121,967,497 (GRCm39)	missense	probably benign	0.13
R1448:Abca4	UTSW	3	121,956,577 (GRCm39)	splice site	probably null
R1453:Abca4	UTSW	3	121,862,763 (GRCm39)	missense	probably benign	0.04
R1533:Abca4	UTSW	3	121,928,807 (GRCm39)	missense	probably benign	0.07
R1645:Abca4	UTSW	3	121,948,926 (GRCm39)	missense	probably benign	0.00
R1763:Abca4	UTSW	3	121,957,479 (GRCm39)	missense	probably damaging	1.00
R1763:Abca4	UTSW	3	121,904,330 (GRCm39)	missense	probably benign	0.09
R1838:Abca4	UTSW	3	121,921,954 (GRCm39)	missense	probably benign
R1867:Abca4	UTSW	3	121,899,010 (GRCm39)	missense	probably damaging	1.00
R1907:Abca4	UTSW	3	121,862,661 (GRCm39)	missense	probably damaging	0.99
R1935:Abca4	UTSW	3	121,846,572 (GRCm39)	missense	probably benign	0.00
R1936:Abca4	UTSW	3	121,846,572 (GRCm39)	missense	probably benign	0.00
R2165:Abca4	UTSW	3	121,906,048 (GRCm39)	missense	possibly damaging	0.90
R2391:Abca4	UTSW	3	121,952,071 (GRCm39)	missense	probably benign	0.00
R2403:Abca4	UTSW	3	121,964,592 (GRCm39)	missense	probably damaging	1.00
R3788:Abca4	UTSW	3	121,846,561 (GRCm39)	missense	possibly damaging	0.50
R3814:Abca4	UTSW	3	121,964,570 (GRCm39)	splice site	probably benign
R4554:Abca4	UTSW	3	121,949,992 (GRCm39)	missense	possibly damaging	0.91
R4649:Abca4	UTSW	3	121,963,542 (GRCm39)	missense	probably damaging	1.00
R4653:Abca4	UTSW	3	121,932,230 (GRCm39)	nonsense	probably null
R4655:Abca4	UTSW	3	121,941,147 (GRCm39)	missense	possibly damaging	0.93
R4668:Abca4	UTSW	3	121,948,948 (GRCm39)	missense	possibly damaging	0.90
R4705:Abca4	UTSW	3	121,899,019 (GRCm39)	missense	probably damaging	0.98
R4788:Abca4	UTSW	3	121,960,361 (GRCm39)	missense	probably damaging	1.00
R4795:Abca4	UTSW	3	121,969,772 (GRCm39)	missense	probably damaging	0.99
R4999:Abca4	UTSW	3	121,899,019 (GRCm39)	missense	probably damaging	1.00
R5301:Abca4	UTSW	3	121,896,502 (GRCm39)	missense	probably damaging	0.96
R5372:Abca4	UTSW	3	121,848,988 (GRCm39)	missense	probably damaging	0.96
R5395:Abca4	UTSW	3	121,874,590 (GRCm39)	missense	probably benign	0.00
R5539:Abca4	UTSW	3	121,963,557 (GRCm39)	missense	probably damaging	1.00
R5583:Abca4	UTSW	3	121,942,550 (GRCm39)	missense	probably damaging	0.99
R5706:Abca4	UTSW	3	121,847,910 (GRCm39)	missense	probably benign	0.10
R5719:Abca4	UTSW	3	121,928,915 (GRCm39)	critical splice donor site	probably null
R5731:Abca4	UTSW	3	121,926,242 (GRCm39)	missense	probably damaging	1.00
R5802:Abca4	UTSW	3	121,847,881 (GRCm39)	missense	probably damaging	1.00
R5819:Abca4	UTSW	3	121,930,630 (GRCm39)	missense	probably damaging	0.97
R5853:Abca4	UTSW	3	121,897,180 (GRCm39)	missense	probably benign
R6053:Abca4	UTSW	3	121,964,666 (GRCm39)	missense	probably damaging	0.99
R6135:Abca4	UTSW	3	121,932,096 (GRCm39)	missense	possibly damaging	0.69
R6185:Abca4	UTSW	3	121,919,789 (GRCm39)	missense	probably damaging	0.97
R6227:Abca4	UTSW	3	121,930,743 (GRCm39)	nonsense	probably null
R6293:Abca4	UTSW	3	121,935,395 (GRCm39)	missense	probably damaging	1.00
R6297:Abca4	UTSW	3	121,926,179 (GRCm39)	missense	probably benign	0.24
R6367:Abca4	UTSW	3	121,897,229 (GRCm39)	missense	probably damaging	1.00
R6376:Abca4	UTSW	3	121,917,309 (GRCm39)	missense	possibly damaging	0.95
R6405:Abca4	UTSW	3	121,967,311 (GRCm39)	splice site	probably null
R6525:Abca4	UTSW	3	121,931,308 (GRCm39)	missense	probably benign	0.00
R6602:Abca4	UTSW	3	121,932,150 (GRCm39)	missense	probably benign	0.00
R6681:Abca4	UTSW	3	121,915,447 (GRCm39)	missense	probably damaging	1.00
R6747:Abca4	UTSW	3	121,919,962 (GRCm39)	splice site	probably null
R7049:Abca4	UTSW	3	121,941,497 (GRCm39)	missense	probably benign	0.00
R7072:Abca4	UTSW	3	121,967,592 (GRCm39)	missense	probably damaging	1.00
R7092:Abca4	UTSW	3	121,932,218 (GRCm39)	missense	probably damaging	1.00
R7110:Abca4	UTSW	3	121,926,292 (GRCm39)	missense	probably damaging	1.00
R7138:Abca4	UTSW	3	121,899,113 (GRCm39)	nonsense	probably null
R7172:Abca4	UTSW	3	121,897,189 (GRCm39)	nonsense	probably null
R7263:Abca4	UTSW	3	121,847,843 (GRCm39)	missense	probably damaging	0.99
R7414:Abca4	UTSW	3	121,896,387 (GRCm39)	missense	probably benign	0.28
R7537:Abca4	UTSW	3	121,967,637 (GRCm39)	missense	possibly damaging	0.68
R7577:Abca4	UTSW	3	121,967,663 (GRCm39)	missense	probably damaging	1.00
R7665:Abca4	UTSW	3	121,838,139 (GRCm39)	start gained	probably benign
R7758:Abca4	UTSW	3	121,921,816 (GRCm39)	missense	probably damaging	1.00
R7935:Abca4	UTSW	3	121,904,186 (GRCm39)	missense	possibly damaging	0.85
R8237:Abca4	UTSW	3	121,955,952 (GRCm39)	missense	probably benign	0.00
R8255:Abca4	UTSW	3	121,948,926 (GRCm39)	missense	probably benign	0.00
R8294:Abca4	UTSW	3	121,897,217 (GRCm39)	missense	possibly damaging	0.75
R8504:Abca4	UTSW	3	121,922,983 (GRCm39)	missense	probably benign	0.01
R8536:Abca4	UTSW	3	121,973,394 (GRCm39)	missense	probably benign	0.01
R8714:Abca4	UTSW	3	121,942,528 (GRCm39)	missense	probably benign	0.19
R8771:Abca4	UTSW	3	121,880,320 (GRCm39)	missense	probably damaging	0.97
R8835:Abca4	UTSW	3	121,896,433 (GRCm39)	missense	probably benign	0.00
R8845:Abca4	UTSW	3	121,930,651 (GRCm39)	missense	probably damaging	1.00
R8856:Abca4	UTSW	3	121,906,096 (GRCm39)	missense	probably benign
R8933:Abca4	UTSW	3	121,921,786 (GRCm39)	missense	probably damaging	1.00
R9052:Abca4	UTSW	3	121,940,908 (GRCm39)	missense	possibly damaging	0.68
R9095:Abca4	UTSW	3	121,967,556 (GRCm39)	missense	possibly damaging	0.52
R9221:Abca4	UTSW	3	121,921,828 (GRCm39)	missense	probably damaging	1.00
R9262:Abca4	UTSW	3	121,964,639 (GRCm39)	missense	probably damaging	1.00
R9301:Abca4	UTSW	3	121,881,128 (GRCm39)	missense	probably benign	0.24
R9367:Abca4	UTSW	3	121,838,197 (GRCm39)	start codon destroyed	probably null	0.99
R9408:Abca4	UTSW	3	121,931,274 (GRCm39)	missense	probably benign
R9425:Abca4	UTSW	3	121,926,344 (GRCm39)	missense	probably damaging	1.00
R9464:Abca4	UTSW	3	121,913,714 (GRCm39)	missense	probably benign	0.08
R9483:Abca4	UTSW	3	121,879,275 (GRCm39)	missense
R9751:Abca4	UTSW	3	121,881,126 (GRCm39)	missense	probably benign	0.00
Z1176:Abca4	UTSW	3	121,950,092 (GRCm39)	missense	probably damaging	1.00
Z1176:Abca4	UTSW	3	121,897,137 (GRCm39)	missense	probably damaging	1.00
Z1177:Abca4	UTSW	3	121,967,563 (GRCm39)	missense	probably benign	0.21
Z1177:Abca4	UTSW	3	121,941,435 (GRCm39)	missense	possibly damaging	0.79
Z1189:Abca4	UTSW	3	121,877,642 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AAGAGAACAAGCCGGTCTC -3'
(R):5'- AGTGTCTGATCTCCCCAACC -3'

Sequencing Primer
(F):5'- TCCGGCACCCTTGTTCGG -3'
(R):5'- TGGAAAGTCAGGATCAGTACCACAC -3'

Posted On

2018-09-12