Mutagenetix > Incidental Mutation

Incidental Mutation 'R7665:Abca4'

591843

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

045739-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7665 (G1)

Quality Score

186.009

Status

Validated

Chromosome

Chromosomal Location

121838092-121973772 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 121838139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000013995 (fasta)

Gene Model

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

AlphaFold

O35600

Predicted Effect

probably benign
Transcript: ENSMUST00000013995

SMART Domains

Protein: ENSMUSP00000013995
Gene: ENSMUSG00000028125

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	A	G	5: 115,012,384 (GRCm39)		probably null	Het
A830018L16Rik	T	C	1: 12,042,323 (GRCm39)	S448P	probably damaging	Het
Ackr2	A	G	9: 121,738,374 (GRCm39)	M250V	probably benign	Het
Actn4	A	G	7: 28,615,632 (GRCm39)	I147T	probably damaging	Het
Adgrv1	C	T	13: 81,647,261 (GRCm39)	S3093N	probably damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Brwd1	G	A	16: 95,842,543 (GRCm39)	T798M	probably benign	Het
Cdk13	G	A	13: 17,947,138 (GRCm39)	T540I	possibly damaging	Het
Cdkn1c	A	G	7: 143,014,371 (GRCm39)	V25A	possibly damaging	Het
Col2a1	T	C	15: 97,874,581 (GRCm39)	E1420G	unknown	Het
Dbf4	G	A	5: 8,447,867 (GRCm39)	P448S	probably damaging	Het
Dnajb7	T	C	15: 81,291,620 (GRCm39)	N239S	probably benign	Het
Dnttip1	A	G	2: 164,596,061 (GRCm39)	D102G	probably damaging	Het
Dpp8	T	A	9: 64,986,000 (GRCm39)	V830D	probably damaging	Het
Eddm13	G	A	7: 6,272,891 (GRCm39)		probably null	Het
Eef1g	T	C	19: 8,945,653 (GRCm39)	V29A	probably benign	Het
Enpp2	T	A	15: 54,702,790 (GRCm39)	Y906F	probably damaging	Het
Epb41l4a	A	G	18: 34,139,069 (GRCm39)	L23P	possibly damaging	Het
Exoc1	T	A	5: 76,691,420 (GRCm39)	M248K	probably benign	Het
Fam83b	T	C	9: 76,398,157 (GRCm39)	Y982C	probably damaging	Het
Fat4	C	T	3: 38,943,327 (GRCm39)	A740V	probably benign	Het
Fsip2	T	A	2: 82,812,149 (GRCm39)	S2823T	probably benign	Het
Gckr	T	C	5: 31,454,899 (GRCm39)			Het
Gpr150	A	T	13: 76,204,093 (GRCm39)	V284E	probably damaging	Het
Grtp1	T	G	8: 13,227,103 (GRCm39)	I344L	probably benign	Het
Heatr5a	T	A	12: 52,008,313 (GRCm39)	N10I	probably damaging	Het
Herc2	C	A	7: 55,802,903 (GRCm39)	L2109I	probably damaging	Het
Hs1bp3	T	A	12: 8,367,935 (GRCm39)	D61E	probably damaging	Het
Ifit1bl1	T	A	19: 34,572,283 (GRCm39)	Y58F	probably benign	Het
Itfg1	A	G	8: 86,490,979 (GRCm39)	F317L	probably benign	Het
Itsn1	T	C	16: 91,638,491 (GRCm39)	I764T	unknown	Het
Med8	A	C	4: 118,268,853 (GRCm39)		probably null	Het
Mpeg1	C	A	19: 12,440,458 (GRCm39)	P639T	probably damaging	Het
Mtcl3	T	A	10: 29,072,393 (GRCm39)	Y562N	probably damaging	Het
Nedd9	A	G	13: 41,469,785 (GRCm39)	L456P	probably benign	Het
Neo1	A	G	9: 58,833,078 (GRCm39)	S556P	probably damaging	Het
Nphp3	T	A	9: 103,882,592 (GRCm39)		probably null	Het
Nup205	T	C	6: 35,154,555 (GRCm39)	V53A	possibly damaging	Het
Nvl	A	T	1: 180,962,509 (GRCm39)	S154T	probably benign	Het
Or10h1	G	T	17: 33,418,603 (GRCm39)	G194*	probably null	Het
Or1e31	A	T	11: 73,689,787 (GRCm39)	N265K	probably benign	Het
Or2ag2	A	T	7: 106,485,880 (GRCm39)	V48D	possibly damaging	Het
Or2h2c	A	G	17: 37,422,283 (GRCm39)	M197T	probably benign	Het
Or51ah3	A	T	7: 103,210,523 (GRCm39)	I280F	probably benign	Het
Or9k7	T	A	10: 130,047,130 (GRCm39)		probably null	Het
Parvg	T	C	15: 84,222,002 (GRCm39)	I243T	probably damaging	Het
Paxip1	T	A	5: 27,970,736 (GRCm39)	M538L	unknown	Het
Pgghg	G	T	7: 140,525,382 (GRCm39)	D428Y	probably damaging	Het
Pik3cd	C	T	4: 149,738,507 (GRCm39)	V777M	possibly damaging	Het
Plcl2	A	C	17: 50,914,185 (GRCm39)	K398T	probably benign	Het
Plxna1	A	T	6: 89,301,520 (GRCm39)		probably null	Het
Rbbp6	T	A	7: 122,589,255 (GRCm39)		probably null	Het
Rbbp6	T	C	7: 122,593,909 (GRCm39)	Y514H	possibly damaging	Het
Scin	T	A	12: 40,119,414 (GRCm39)	N538I	probably damaging	Het
Sdcbp	A	G	4: 6,385,144 (GRCm39)	D121G	probably benign	Het
Sgk1	T	C	10: 21,872,561 (GRCm39)	I311T	probably damaging	Het
Shq1	A	C	6: 100,550,717 (GRCm39)	L407W	probably damaging	Het
Sipa1	A	T	19: 5,701,699 (GRCm39)	S979T	probably benign	Het
Slc25a37	G	T	14: 69,487,028 (GRCm39)	T85K	probably benign	Het
Spag9	A	T	11: 93,904,480 (GRCm39)	Q112L	probably damaging	Het
Spg11	A	T	2: 121,896,748 (GRCm39)	V1686E	probably damaging	Het
Stap2	A	G	17: 56,304,909 (GRCm39)	V291A	probably benign	Het
Tnk2	C	T	16: 32,499,344 (GRCm39)	R886C	probably damaging	Het
Tnrc6c	T	A	11: 117,611,777 (GRCm39)	D138E	possibly damaging	Het
Unc13c	A	G	9: 73,587,756 (GRCm39)	S1426P	probably benign	Het
Vav1	G	A	17: 57,604,086 (GRCm39)	V163M	probably damaging	Het
Vmn2r67	T	A	7: 84,801,196 (GRCm39)	K247*	probably null	Het
Zc2hc1c	T	C	12: 85,343,336 (GRCm39)	V491A	possibly damaging	Het
Zfp51	A	G	17: 21,683,843 (GRCm39)	T153A	probably benign	Het
Zyx	A	G	6: 42,333,096 (GRCm39)	E374G	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
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
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'- CCGCACTTGTGTATTTAGGGCC -3'
(R):5'- AGGTGGCCTCCGAACTAAAG -3'

Sequencing Primer
(F):5'- GGGCCTTTCTCCGTCTATAAAGAAAC -3'
(R):5'- AAGGACAAACTAGCTCTCTTCTTCG -3'

Posted On

2019-11-12