Mutagenetix > Incidental Mutation

Incidental Mutation 'R0138:Abca4'

22090

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

038423-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0138 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

121838092-121973772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121899098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 693 (N693K)

Ref Sequence

ENSEMBL: ENSMUSP00000013995 (fasta)

Gene Model

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

AlphaFold

O35600

Predicted Effect

probably damaging
Transcript: ENSMUST00000013995
AA Change: N693K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000013995
Gene: ENSMUSG00000028125
AA Change: N693K

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

Meta Mutation Damage Score

0.4890

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (76/78)

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
Adgrl3	T	A	5: 81,841,454 (GRCm39)	V845D	probably damaging	Het
Anxa8	T	A	14: 33,819,896 (GRCm39)	F269Y	probably benign	Het
Anxa8	T	A	14: 33,819,897 (GRCm39)	F295L	possibly damaging	Het
Aox4	C	G	1: 58,268,025 (GRCm39)	L202V	probably damaging	Het
Ap3s2	A	G	7: 79,559,617 (GRCm39)	V104A	probably benign	Het
Aqp3	G	A	4: 41,094,843 (GRCm39)		probably benign	Het
Arhgef26	C	T	3: 62,355,680 (GRCm39)	H751Y	probably benign	Het
Asic4	A	T	1: 75,446,331 (GRCm39)	Q291L	possibly damaging	Het
Bap1	T	C	14: 30,978,681 (GRCm39)	Y31H	probably damaging	Het
Brf1	A	T	12: 112,924,759 (GRCm39)	V655D	probably damaging	Het
Cebpz	A	G	17: 79,238,820 (GRCm39)	S663P	probably benign	Het
Ces2h	A	G	8: 105,744,693 (GRCm39)	D357G	probably benign	Het
Cfap36	T	C	11: 29,194,073 (GRCm39)	T90A	probably benign	Het
Ciita	A	T	16: 10,330,134 (GRCm39)	D803V	probably damaging	Het
Clnk	C	A	5: 38,931,951 (GRCm39)		probably benign	Het
Cyp46a1	A	G	12: 108,317,470 (GRCm39)	N158S	probably damaging	Het
Cyp4f13	A	G	17: 33,160,080 (GRCm39)	I98T	possibly damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dll3	T	A	7: 28,000,746 (GRCm39)	D103V	possibly damaging	Het
Dnai1	T	A	4: 41,629,814 (GRCm39)	M446K	possibly damaging	Het
Dppa4	A	T	16: 48,111,425 (GRCm39)	T85S	probably benign	Het
Eif4g1	A	T	16: 20,494,095 (GRCm39)	H57L	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fn1	T	A	1: 71,663,269 (GRCm39)	Q1073L	possibly damaging	Het
Foxp4	T	C	17: 48,180,104 (GRCm39)	D599G	unknown	Het
Frrs1	T	C	3: 116,675,456 (GRCm39)	V128A	possibly damaging	Het
Gcfc2	G	A	6: 81,926,935 (GRCm39)	D608N	probably damaging	Het
Gm1043	T	C	5: 37,350,317 (GRCm39)		probably benign	Het
Gm5148	T	C	3: 37,768,926 (GRCm39)	E98G	probably benign	Het
Gpr141	T	C	13: 19,936,428 (GRCm39)	I116V	probably benign	Het
Hic1	T	C	11: 75,058,169 (GRCm39)	N240S	probably damaging	Het
Hpx	G	A	7: 105,241,445 (GRCm39)	T322I	probably damaging	Het
Hs3st4	A	T	7: 123,996,416 (GRCm39)	M361L	probably benign	Het
Ifrd1	A	G	12: 40,257,129 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Klk1b21	T	A	7: 43,755,319 (GRCm39)	C173S	probably damaging	Het
Krt25	A	T	11: 99,213,524 (GRCm39)	V65E	probably benign	Het
Lrrc15	A	T	16: 30,092,267 (GRCm39)	D357E	possibly damaging	Het
Lrrd1	T	A	5: 3,901,345 (GRCm39)	V550E	probably benign	Het
Macf1	A	G	4: 123,334,540 (GRCm39)	Y1490H	probably damaging	Het
Macrod1	A	G	19: 7,174,281 (GRCm39)		probably benign	Het
Mcm5	T	A	8: 75,847,508 (GRCm39)	V435D	probably damaging	Het
Mctp1	C	T	13: 76,975,831 (GRCm39)	R478C	probably damaging	Het
Med10	T	C	13: 69,959,817 (GRCm39)		probably benign	Het
Mrpl4	T	C	9: 20,919,888 (GRCm39)	Y280H	probably benign	Het
Msrb3	T	C	10: 120,687,892 (GRCm39)	E61G	probably damaging	Het
Myo1c	T	C	11: 75,551,827 (GRCm39)	Y337H	possibly damaging	Het
Myo7b	T	A	18: 32,143,204 (GRCm39)	T165S	probably damaging	Het
Myrfl	T	A	10: 116,685,138 (GRCm39)	R81W	probably damaging	Het
Neil1	T	C	9: 57,051,030 (GRCm39)		probably benign	Het
Neto2	A	G	8: 86,367,673 (GRCm39)	I357T	possibly damaging	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nkx6-3	T	C	8: 23,643,607 (GRCm39)	S3P	probably benign	Het
Or52h7	A	T	7: 104,214,210 (GRCm39)	I261L	probably benign	Het
Plce1	T	C	19: 38,512,863 (GRCm39)	I54T	possibly damaging	Het
Prex2	A	T	1: 11,355,267 (GRCm39)		probably benign	Het
Psapl1	T	A	5: 36,361,975 (GRCm39)	V189E	probably damaging	Het
Ptdss2	T	G	7: 140,735,232 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,307,322 (GRCm39)	C661R	probably benign	Het
Rpap1	T	C	2: 119,595,380 (GRCm39)		probably null	Het
Rrp1b	A	G	17: 32,279,426 (GRCm39)	T696A	probably benign	Het
Sacm1l	T	A	9: 123,377,982 (GRCm39)	H87Q	probably benign	Het
Serpinb11	T	A	1: 107,305,260 (GRCm39)	M212K	probably damaging	Het
Tbc1d22a	C	A	15: 86,183,885 (GRCm39)	T248K	probably damaging	Het
Tcerg1	C	T	18: 42,701,679 (GRCm39)		probably benign	Het
Tpst1	T	A	5: 130,130,627 (GRCm39)	H32Q	probably damaging	Het
Tsc2	A	T	17: 24,818,600 (GRCm39)	V1412E	possibly damaging	Het
Usp19	C	A	9: 108,378,514 (GRCm39)	P1326Q	possibly damaging	Het
Vmn1r235	T	A	17: 21,482,596 (GRCm39)	M307K	probably damaging	Het
Vmn2r58	T	A	7: 41,487,048 (GRCm39)	T616S	probably damaging	Het
Vps13a	G	A	19: 16,637,863 (GRCm39)	T2406I	possibly damaging	Het
Zbtb26	T	A	2: 37,326,053 (GRCm39)	M328L	probably benign	Het
Zp2	A	G	7: 119,736,423 (GRCm39)	F340S	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
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
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'- TGTCCAGAACGGCTCCATTTTGC -3'
(R):5'- GAATTGAGGGTGCTGGCTCTCTAAG -3'

Sequencing Primer
(F):5'- TTGATTCTACCAGGGACAGC -3'
(R):5'- AGCGTCAGGAGGAAGATACT -3'

Posted On

2013-04-12