Mutagenetix > Incidental Mutation

Incidental Mutation 'R7537:Abca4'

583635

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

045609-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7537 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121838092-121973772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121967637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 2229 (L2229P)

Ref Sequence

ENSEMBL: ENSMUSP00000013995 (fasta)

Gene Model

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

AlphaFold

O35600

Predicted Effect

possibly damaging
Transcript: ENSMUST00000013995
AA Change: L2229P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000013995
Gene: ENSMUSG00000028125
AA Change: L2229P

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

possibly damaging
Transcript: ENSMUST00000141135
AA Change: L1021P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143560
Gene: ENSMUSG00000028125
AA Change: L1021P

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

Meta Mutation Damage Score

0.0834

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,151,460 (GRCm39)	M786K	probably damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adap1	T	G	5: 139,278,928 (GRCm39)	E117D	possibly damaging	Het
Ap5z1	T	C	5: 142,463,053 (GRCm39)	S746P	probably benign	Het
Appl2	A	G	10: 83,453,292 (GRCm39)	I208T	possibly damaging	Het
Astn1	A	G	1: 158,332,956 (GRCm39)	E346G	possibly damaging	Het
Astn1	G	A	1: 158,495,208 (GRCm39)		probably null	Het
Atp23	T	A	10: 126,704,594 (GRCm39)	I180L	unknown	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cdh23	A	T	10: 60,220,724 (GRCm39)	I1340N	probably benign	Het
Cdh8	G	A	8: 99,825,517 (GRCm39)	Q493*	probably null	Het
Ces1g	T	C	8: 94,046,455 (GRCm39)	I357V	probably benign	Het
Ddx46	A	G	13: 55,798,291 (GRCm39)	D226G	probably damaging	Het
Eea1	C	T	10: 95,830,767 (GRCm39)	Q143*	probably null	Het
Erlin2	G	T	8: 27,521,800 (GRCm39)		probably null	Het
Fat3	T	A	9: 15,849,615 (GRCm39)	D3929V	probably damaging	Het
Flt3	T	C	5: 147,271,247 (GRCm39)	D898G	probably damaging	Het
Gm16519	A	G	17: 71,236,351 (GRCm39)	N100S	probably benign	Het
Gnl1	A	G	17: 36,299,428 (GRCm39)	H533R	probably damaging	Het
Gphn	A	G	12: 78,551,454 (GRCm39)	T301A	possibly damaging	Het
Herc2	C	T	7: 55,869,527 (GRCm39)	R4295*	probably null	Het
Insm2	T	C	12: 55,646,303 (GRCm39)	S16P	possibly damaging	Het
Jak2	C	T	19: 29,276,037 (GRCm39)	T778I	probably benign	Het
Lrriq3	A	G	3: 154,806,734 (GRCm39)	T128A	probably damaging	Het
Lst1	A	G	17: 35,405,920 (GRCm39)		probably null	Het
Magi1	G	T	6: 93,685,091 (GRCm39)	Y762*	probably null	Het
Man2b1	T	A	8: 85,817,594 (GRCm39)	C358*	probably null	Het
Mga	T	C	2: 119,766,032 (GRCm39)	V1432A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Morc2a	C	T	11: 3,633,566 (GRCm39)	Q587*	probably null	Het
Mrc2	T	C	11: 105,183,623 (GRCm39)	I4T	probably benign	Het
Muc16	C	A	9: 18,549,431 (GRCm39)	V5621F	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myo3b	A	G	2: 70,047,513 (GRCm39)	R340G	probably benign	Het
Nipal3	T	C	4: 135,218,248 (GRCm39)	Y34C	probably damaging	Het
Nktr	T	A	9: 121,578,345 (GRCm39)	D804E	unknown	Het
Nlrp4b	A	G	7: 10,448,816 (GRCm39)	M340V	probably benign	Het
Or1e26	T	A	11: 73,480,094 (GRCm39)	T157S	probably benign	Het
Or2ag2b	G	A	7: 106,417,581 (GRCm39)	C97Y	probably damaging	Het
Or56a41	A	T	7: 104,741,978 (GRCm39)	M16K	probably benign	Het
Or5al5	A	G	2: 85,961,608 (GRCm39)	V133A	probably benign	Het
Pard3	T	A	8: 128,337,063 (GRCm39)	N1271K	probably damaging	Het
Pcdhb11	A	T	18: 37,554,672 (GRCm39)	M1L	possibly damaging	Het
Pclo	T	C	5: 14,732,118 (GRCm39)	V3540A	unknown	Het
Pemt	A	G	11: 59,867,670 (GRCm39)	F154S	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Rnpc3	G	T	3: 113,407,481 (GRCm39)	T376K	probably benign	Het
Rpe65	A	G	3: 159,310,246 (GRCm39)	Y143C	probably damaging	Het
Sbk2	T	C	7: 4,966,148 (GRCm39)	E12G	probably benign	Het
Slc2a5	T	C	4: 150,213,526 (GRCm39)	I106T	possibly damaging	Het
Snx13	A	G	12: 35,135,981 (GRCm39)	D92G	probably damaging	Het
Sorl1	C	T	9: 41,891,984 (GRCm39)	V1889I	probably benign	Het
Spag17	A	T	3: 99,846,563 (GRCm39)	N29I	possibly damaging	Het
Speg	T	C	1: 75,378,108 (GRCm39)	V878A	probably damaging	Het
Timp4	A	G	6: 115,227,421 (GRCm39)	S53P	probably damaging	Het
Tssk1	G	T	16: 17,712,948 (GRCm39)	E244D	probably benign	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Vmn2r85	A	T	10: 130,258,735 (GRCm39)	V440E	probably benign	Het
Wdr59	T	C	8: 112,217,001 (GRCm39)	D270G		Het
Zbbx	G	A	3: 74,992,826 (GRCm39)	P223S	probably damaging	Het
Zfp936	T	A	7: 42,839,239 (GRCm39)	C235*	probably null	Het
Zranb3	A	T	1: 127,960,584 (GRCm39)		probably null	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
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'- GAACACACTGTGCACTTGCTAG -3'
(R):5'- TCTAAGGGAGAGCGACTAACAC -3'

Sequencing Primer
(F):5'- TGGAGACGGCTACATTGTCAC -3'
(R):5'- CTGCATTAAAGCGAGGGCATCC -3'

Posted On

2019-10-17