Mutagenetix > Incidental Mutation

Incidental Mutation 'R0839:Abca4'

78091

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

039018-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0839 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121838092-121973772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121920527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1083 (V1083M)

Ref Sequence

ENSEMBL: ENSMUSP00000013995 (fasta)

Gene Model

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

AlphaFold

O35600

Predicted Effect

probably damaging
Transcript: ENSMUST00000013995
AA Change: V1083M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000013995
Gene: ENSMUSG00000028125
AA Change: V1083M

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

noncoding transcript
Transcript: ENSMUST00000136624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198484

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	A	G	15: 81,791,736 (GRCm39)		probably null	Het
AI661453	A	T	17: 47,747,752 (GRCm39)	Q8L	probably null	Het
Ankrd42	T	C	7: 92,261,980 (GRCm39)	D295G	possibly damaging	Het
Ccdc73	A	T	2: 104,821,442 (GRCm39)	I464L	probably benign	Het
Cdc5l	A	C	17: 45,704,073 (GRCm39)	M717R	probably benign	Het
Col4a1	G	A	8: 11,271,015 (GRCm39)	P809S	probably damaging	Het
Dctn1	T	C	6: 83,167,459 (GRCm39)	M358T	possibly damaging	Het
Dgkz	A	G	2: 91,765,456 (GRCm39)	S799P	probably benign	Het
Dna2	T	C	10: 62,805,561 (GRCm39)	C933R	probably damaging	Het
Dock6	T	C	9: 21,729,188 (GRCm39)	N1275S	probably benign	Het
Ect2l	A	G	10: 18,017,652 (GRCm39)	I659T	probably benign	Het
Ets1	T	A	9: 32,645,357 (GRCm39)	Y201*	probably null	Het
Gle1	T	A	2: 29,848,462 (GRCm39)	C679S	probably benign	Het
Gm10118	T	G	10: 63,762,643 (GRCm39)		probably benign	Het
Guk1	G	A	11: 59,075,921 (GRCm39)	R146C	probably damaging	Het
H2-Q7	A	G	17: 35,658,688 (GRCm39)	S109G	probably damaging	Het
Igfn1	A	G	1: 135,882,418 (GRCm39)	V2809A	probably damaging	Het
Izumo1	T	A	7: 45,276,536 (GRCm39)	D366E	probably benign	Het
Kctd20	A	T	17: 29,176,872 (GRCm39)	M1L	possibly damaging	Het
Lct	C	T	1: 128,214,346 (GRCm39)	A1809T	probably benign	Het
Manea	T	C	4: 26,327,983 (GRCm39)	I353V	probably damaging	Het
Mybl2	T	C	2: 162,917,688 (GRCm39)	Y65H	probably benign	Het
Myh11	C	T	16: 14,021,042 (GRCm39)	E1744K	probably damaging	Het
Neb	T	C	2: 52,167,560 (GRCm39)	D1922G	probably damaging	Het
Nepro	C	A	16: 44,556,382 (GRCm39)	D513E	probably benign	Het
Nnt	A	T	13: 119,531,192 (GRCm39)	I185K	possibly damaging	Het
Npat	A	T	9: 53,456,480 (GRCm39)	Q17L	probably damaging	Het
Nup155	A	G	15: 8,175,071 (GRCm39)	E956G	possibly damaging	Het
Or1e35	T	A	11: 73,798,138 (GRCm39)	Y60F	probably damaging	Het
Or1x6	A	G	11: 50,939,254 (GRCm39)	I107V	probably benign	Het
Or2a14	T	A	6: 43,130,558 (GRCm39)	F106L	probably benign	Het
Or4q3	A	G	14: 50,583,545 (GRCm39)	V118A	probably damaging	Het
Or8g18	A	T	9: 39,149,146 (GRCm39)	N191K	possibly damaging	Het
Or8g4	A	T	9: 39,661,687 (GRCm39)	I2L	probably benign	Het
Or9e1	G	A	11: 58,732,478 (GRCm39)	M179I	probably benign	Het
Pah	T	C	10: 87,357,924 (GRCm39)	S16P	probably damaging	Het
Pcdh15	C	A	10: 74,462,614 (GRCm39)	P1365Q	probably null	Het
Pds5b	G	T	5: 150,688,427 (GRCm39)	V640F	probably benign	Het
Pgam5	A	T	5: 110,414,996 (GRCm39)	H72Q	probably benign	Het
Plagl2	C	A	2: 153,074,461 (GRCm39)	A147S	probably damaging	Het
Ppfia4	A	T	1: 134,256,545 (GRCm39)	L113Q	probably null	Het
Ppp1r12a	T	C	10: 108,034,722 (GRCm39)	V89A	probably damaging	Het
Ptprc	A	G	1: 138,028,870 (GRCm39)	Y443H	possibly damaging	Het
Ralgapb	T	C	2: 158,315,203 (GRCm39)		probably null	Het
Rgsl1	A	G	1: 153,677,980 (GRCm39)		probably null	Het
Rubcn	A	C	16: 32,647,713 (GRCm39)	I681M	probably damaging	Het
Scaf11	A	G	15: 96,321,434 (GRCm39)	L169S	probably damaging	Het
Scgb1b27	A	G	7: 33,721,276 (GRCm39)	K55E	probably benign	Het
Sos1	A	T	17: 80,741,159 (GRCm39)	I542N	probably damaging	Het
Syf2	T	A	4: 134,663,374 (GRCm39)	V182D	probably damaging	Het
Tapbp	T	C	17: 34,144,717 (GRCm39)	V271A	probably benign	Het
Tmem33	T	A	5: 67,421,651 (GRCm39)	L60Q	probably damaging	Het
Tmf1	A	G	6: 97,153,284 (GRCm39)	V263A	probably damaging	Het
Vps13c	T	C	9: 67,806,020 (GRCm39)	V798A	probably benign	Het
Zfp384	C	A	6: 125,013,631 (GRCm39)	D550E	probably benign	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
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'- TGAAGCATGGACGATACTGTGACG -3'
(R):5'- GCCATAGGCCACTTCATCAGTGAC -3'

Sequencing Primer
(F):5'- ACGTCTGACAGTGTAGGCATATC -3'
(R):5'- AGGCTTGCCCTTGAACTTG -3'

Posted On

2013-10-16