Mutagenetix > Incidental Mutation

Incidental Mutation 'R9408:Abca4'

711640

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9408 (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 121931274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1436 (R1436W)

Ref Sequence

ENSEMBL: ENSMUSP00000013995 (fasta)

Gene Model

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

AlphaFold

O35600

Predicted Effect

probably benign
Transcript: ENSMUST00000013995
AA Change: R1436W

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

SMART Domains

Protein: ENSMUSP00000013995
Gene: ENSMUSG00000028125
AA Change: R1436W

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 benign
Transcript: ENSMUST00000141135
AA Change: R228W

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

SMART Domains

Protein: ENSMUSP00000143560
Gene: ENSMUSG00000028125
AA Change: R228W

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: 98.8%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	A	6: 128,522,030 (GRCm39)	T1264I	probably damaging	Het
Aadac	T	A	3: 59,946,986 (GRCm39)	V228E	probably benign	Het
Abo	A	G	2: 26,738,287 (GRCm39)	L39S	probably benign	Het
Acnat1	T	A	4: 49,447,773 (GRCm39)	R269S	probably benign	Het
Adap2	T	C	11: 80,045,942 (GRCm39)	V74A	probably damaging	Het
Ahctf1	C	A	1: 179,603,638 (GRCm39)	A803S	possibly damaging	Het
Ak6	A	G	13: 100,792,003 (GRCm39)	S149G	probably benign	Het
Ank	T	C	15: 27,591,588 (GRCm39)	V444A	probably damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atf7	A	C	15: 102,462,286 (GRCm39)	V112G	probably damaging	Het
Brca2	A	G	5: 150,464,982 (GRCm39)	Y1582C	probably damaging	Het
Bricd5	G	T	17: 24,693,083 (GRCm39)		probably benign	Het
Bsn	C	A	9: 108,016,652 (GRCm39)	E120*	probably null	Het
Cacna1g	T	G	11: 94,321,050 (GRCm39)	N1348T	probably damaging	Het
Ccnc	T	G	4: 21,746,776 (GRCm39)		probably null	Het
Cd163	A	G	6: 124,297,497 (GRCm39)	D881G	probably benign	Het
Cep295	G	A	9: 15,244,619 (GRCm39)	P1279L	probably benign	Het
Cic	G	A	7: 24,971,414 (GRCm39)	V382I	possibly damaging	Het
Cyp21a1	G	A	17: 35,020,860 (GRCm39)	S453F	probably damaging	Het
D16Ertd472e	A	T	16: 78,344,646 (GRCm39)	I154N	probably benign	Het
Dbf4	A	G	5: 8,447,764 (GRCm39)	V482A	possibly damaging	Het
Dchs2	G	A	3: 83,192,573 (GRCm39)	V1673M	probably benign	Het
Dctd	T	A	8: 48,590,385 (GRCm39)	C119S	probably damaging	Het
Dock1	A	G	7: 134,717,065 (GRCm39)	T1234A	probably damaging	Het
Efcab3	T	A	11: 104,621,255 (GRCm39)		probably null	Het
Eya4	A	T	10: 22,999,805 (GRCm39)	M386K		Het
Fbxw19	T	A	9: 109,315,101 (GRCm39)	M154L	probably benign	Het
Frmpd1	T	A	4: 45,279,182 (GRCm39)	S636T	probably benign	Het
Glb1l	A	T	1: 75,177,683 (GRCm39)	Y412N	probably damaging	Het
Gnb5	T	A	9: 75,218,696 (GRCm39)	L7Q	probably damaging	Het
Gpr19	C	T	6: 134,864,704 (GRCm39)	V3M	unknown	Het
Hivep2	A	G	10: 14,007,505 (GRCm39)	T1368A	probably damaging	Het
Hmx3	A	T	7: 131,146,102 (GRCm39)	Q270L	probably damaging	Het
Il1rap	A	T	16: 26,533,675 (GRCm39)	I524F	possibly damaging	Het
Mettl17	G	A	14: 52,125,491 (GRCm39)	G198D	probably damaging	Het
Mga	T	A	2: 119,765,999 (GRCm39)	I1421N	possibly damaging	Het
Myb	T	A	10: 21,026,275 (GRCm39)	Q231L	probably benign	Het
Myef2l	T	A	3: 10,154,407 (GRCm39)	M392K	probably benign	Het
Myf5	G	A	10: 107,321,527 (GRCm39)	T89I	probably damaging	Het
Nup214	T	A	2: 31,937,523 (GRCm39)	L1999Q	probably damaging	Het
Or10aa3	T	C	1: 173,878,329 (GRCm39)	L130P		Het
Or1ad6	T	A	11: 50,860,613 (GRCm39)	L256Q	probably damaging	Het
Or4a76	A	G	2: 89,460,388 (GRCm39)	Y285H	probably damaging	Het
Or51t4	A	T	7: 102,598,443 (GRCm39)	H257L	probably damaging	Het
Or5w19	G	A	2: 87,698,379 (GRCm39)	G15R	probably damaging	Het
Or7a36	A	G	10: 78,820,220 (GRCm39)	M199V	probably benign	Het
Otog	A	T	7: 45,916,721 (GRCm39)	D886V	possibly damaging	Het
Pde7a	A	C	3: 19,287,958 (GRCm39)	V237G	possibly damaging	Het
Pigs	T	C	11: 78,230,213 (GRCm39)	Y327H	probably damaging	Het
Pkd2l2	T	C	18: 34,563,383 (GRCm39)	V478A	probably damaging	Het
Pnrc1	C	A	4: 33,246,488 (GRCm39)	G157V	probably damaging	Het
Poglut1	G	T	16: 38,347,137 (GRCm39)	S343R	probably benign	Het
Ppwd1	A	G	13: 104,346,155 (GRCm39)	M500T	possibly damaging	Het
Pyy	C	T	11: 101,998,111 (GRCm39)	G23E	probably damaging	Het
Ripor3	T	A	2: 167,831,238 (GRCm39)	D521V	probably benign	Het
Rnpepl1	T	C	1: 92,845,424 (GRCm39)	S448P	probably benign	Het
Sash1	G	A	10: 8,637,994 (GRCm39)		probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Synj1	C	T	16: 90,741,740 (GRCm39)	C1252Y	probably benign	Het
Tenm2	A	T	11: 35,960,246 (GRCm39)	L1027Q	probably damaging	Het
Tep1	A	G	14: 51,074,637 (GRCm39)	V1796A	possibly damaging	Het
Timp3	A	T	10: 86,136,782 (GRCm39)	E22V	possibly damaging	Het
Tlk1	A	C	2: 70,617,219 (GRCm39)		probably null	Het
Tmco1	C	A	1: 167,141,700 (GRCm39)	T69K		Het
Topaz1	T	A	9: 122,626,728 (GRCm39)	M1452K	probably benign	Het
Tsc22d2	T	C	3: 58,367,453 (GRCm39)	Y668H	unknown	Het
Uri1	A	T	7: 37,669,031 (GRCm39)	D153E	probably benign	Het
Vmn1r169	A	T	7: 23,277,342 (GRCm39)	T245S	probably damaging	Het
Vmn1r60	A	G	7: 5,547,918 (GRCm39)	Y61H		Het
Zfp541	A	T	7: 15,806,139 (GRCm39)	E91D	probably damaging	Het
Zfp946	A	G	17: 22,673,569 (GRCm39)	N108D	possibly damaging	Het
Zpr1	T	C	9: 46,186,747 (GRCm39)	L194P	probably damaging	Het
Zzef1	T	A	11: 72,755,653 (GRCm39)	N1027K	possibly 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
R6852:Abca4	UTSW	3	121,928,844 (GRCm39)	missense	probably damaging	0.99
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
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'- CTAAGTCGGTGTTCAGTGCC -3'
(R):5'- TCAAGGATGGAGGCTTCCTAG -3'

Sequencing Primer
(F):5'- GTGTTCAGTGCCTCACAAGCATG -3'
(R):5'- TTCCTAGCACCAGAGGAGAAACTG -3'

Posted On

2022-05-16