Mutagenetix > Incidental Mutation

Incidental Mutation 'R4653:Abca4'

351462

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

041913-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4653 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121838092-121973772 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 121932230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 295 (E295*)

Ref Sequence

ENSEMBL: ENSMUSP00000143560 (fasta)

Gene Model

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

AlphaFold

O35600

Predicted Effect

probably null
Transcript: ENSMUST00000013995
AA Change: E1503*

SMART Domains

Protein: ENSMUSP00000013995
Gene: ENSMUSG00000028125
AA Change: E1503*

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 null
Transcript: ENSMUST00000141135
AA Change: E295*

SMART Domains

Protein: ENSMUSP00000143560
Gene: ENSMUSG00000028125
AA Change: E295*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198484

Meta Mutation Damage Score

0.9753

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (66/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,264 (GRCm39)	T351A	probably benign	Het
3930402G23Rik	A	T	8: 10,976,075 (GRCm39)		noncoding transcript	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Abi3	T	C	11: 95,723,637 (GRCm39)	I215V	probably benign	Het
Adhfe1	G	T	1: 9,620,803 (GRCm39)		probably benign	Het
Akr1a1	A	G	4: 116,495,156 (GRCm39)		probably benign	Het
Ank	T	A	15: 27,590,447 (GRCm39)	W344R	probably null	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Ccdc39	A	G	3: 33,873,955 (GRCm39)		probably null	Het
Cd180	T	A	13: 102,841,416 (GRCm39)	L154H	probably damaging	Het
Cnp	A	T	11: 100,467,342 (GRCm39)	D95V	probably benign	Het
Cul1	T	C	6: 47,461,897 (GRCm39)	I20T	probably damaging	Het
Dnah6	T	C	6: 73,050,440 (GRCm39)	K3042R	possibly damaging	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dpys	C	A	15: 39,656,642 (GRCm39)	R475L	probably damaging	Het
Dync1i2	A	G	2: 71,078,199 (GRCm39)	N276S	probably damaging	Het
Ext2	T	C	2: 93,526,504 (GRCm39)	S711G	probably benign	Het
Fancm	A	G	12: 65,129,828 (GRCm39)	Y223C	probably damaging	Het
Folh1	C	A	7: 86,393,633 (GRCm39)	G360*	probably null	Het
Garin5b	T	C	7: 4,761,054 (GRCm39)	R553G	possibly damaging	Het
Gcat	T	C	15: 78,919,487 (GRCm39)	S151P	probably damaging	Het
Gcm2	A	T	13: 41,256,317 (GRCm39)	D477E	probably benign	Het
Git1	A	G	11: 77,395,869 (GRCm39)	N468S	possibly damaging	Het
Gtf3c1	T	C	7: 125,273,272 (GRCm39)	I622V	probably benign	Het
Hsd17b13	G	A	5: 104,113,702 (GRCm39)	L251F	probably damaging	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Llgl1	A	G	11: 60,599,477 (GRCm39)	D486G	possibly damaging	Het
Lrrk1	T	C	7: 65,922,801 (GRCm39)	I1366V	probably benign	Het
Ly9	G	T	1: 171,421,597 (GRCm39)	H441Q	probably benign	Het
Mtcl2	A	G	2: 156,882,511 (GRCm39)	F514L	probably damaging	Het
Myo15b	G	A	11: 115,770,813 (GRCm39)		probably null	Het
Nomo1	G	T	7: 45,711,237 (GRCm39)	A639S	probably benign	Het
P3h2	T	C	16: 25,924,027 (GRCm39)	D136G	probably damaging	Het
Pde4dip	A	T	3: 97,674,654 (GRCm39)	D87E	probably damaging	Het
Pdpk1	A	T	17: 24,325,871 (GRCm39)	D108E	probably benign	Het
Pex26	C	T	6: 121,167,084 (GRCm39)	S231L	probably damaging	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Ryr3	T	A	2: 112,483,108 (GRCm39)	N4213I	probably damaging	Het
Slc7a14	A	G	3: 31,311,831 (GRCm39)	V63A	probably damaging	Het
Sppl2a	C	T	2: 126,762,233 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,455,580 (GRCm39)	W3077R	probably damaging	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Sv2a	T	C	3: 96,098,078 (GRCm39)		probably null	Het
Themis2	A	G	4: 132,510,287 (GRCm39)	S638P	probably benign	Het
Trabd	A	G	15: 88,970,042 (GRCm39)	Y346C	probably damaging	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Trmt1l	G	A	1: 151,315,320 (GRCm39)	V16I	probably benign	Het
Ube2b	A	G	11: 51,886,199 (GRCm39)		probably null	Het
Usp13	A	T	3: 32,892,073 (GRCm39)	Q84L	probably damaging	Het
Vmn1r172	G	T	7: 23,359,997 (GRCm39)	G294V	probably damaging	Het
Vmn2r59	A	T	7: 41,693,228 (GRCm39)	H457Q	probably benign	Het
Vmn2r63	A	G	7: 42,553,114 (GRCm39)	I714T	possibly damaging	Het
Vps8	T	C	16: 21,318,960 (GRCm39)	Y602H	probably damaging	Het
Zbp1	G	A	2: 173,049,608 (GRCm39)	P385S	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
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
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'- TTAGCCTGGCTGCAGTTCTG -3'
(R):5'- TGAGTATCAAACCCAGGGCC -3'

Sequencing Primer
(F):5'- CGAGAGGGAAATTCCTGACTTC -3'
(R):5'- AGGGCCTCATCACTGACAGTC -3'

Posted On

2015-10-08