Mutagenetix > Incidental Mutation

Incidental Mutation 'R0091:Abca4'

20195

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

038378-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0091 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

121838092-121973772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121932179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 278 (S278P)

Ref Sequence

ENSEMBL: ENSMUSP00000143560 (fasta)

Gene Model

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

AlphaFold

O35600

Predicted Effect

possibly damaging
Transcript: ENSMUST00000013995
AA Change: S1486P

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000013995
Gene: ENSMUSG00000028125
AA Change: S1486P

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: S278P

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143560
Gene: ENSMUSG00000028125
AA Change: S278P

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

0.1060

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.4%
20x: 84.5%

Validation Efficiency

98% (86/88)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	G	11: 102,663,665 (GRCm39)	Y281C	probably damaging	Het
Adam6a	G	T	12: 113,507,849 (GRCm39)	R74L	possibly damaging	Het
Adcy5	T	C	16: 35,091,368 (GRCm39)		probably null	Het
Adrb2	A	G	18: 62,312,090 (GRCm39)	L245P	probably benign	Het
Aebp2	T	C	6: 140,589,800 (GRCm39)		probably null	Het
Arhgap23	A	G	11: 97,343,070 (GRCm39)	T240A	probably benign	Het
Atp10a	T	C	7: 58,423,794 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,274,213 (GRCm39)	Y416F	probably damaging	Het
Atp5mc2	A	C	15: 102,571,492 (GRCm39)	L133R	probably damaging	Het
Bicral	A	T	17: 47,136,233 (GRCm39)	Y326N	probably damaging	Het
Chst4	T	C	8: 110,757,297 (GRCm39)	S189G	probably damaging	Het
Cnot1	A	T	8: 96,489,772 (GRCm39)	I477N	probably damaging	Het
Col7a1	G	T	9: 108,796,574 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,415,301 (GRCm39)		probably benign	Het
Dcn	A	G	10: 97,342,551 (GRCm39)	N169S	probably benign	Het
Dnajc6	T	C	4: 101,473,974 (GRCm39)		probably benign	Het
Egln3	A	G	12: 54,228,432 (GRCm39)	F225L	probably benign	Het
Erap1	G	A	13: 74,816,171 (GRCm39)	R100Q	possibly damaging	Het
Erc2	A	T	14: 27,498,781 (GRCm39)		probably null	Het
Fto	G	A	8: 92,168,435 (GRCm39)		probably null	Het
Gdap1l1	C	T	2: 163,288,011 (GRCm39)	P80S	probably damaging	Het
Gm1123	T	C	9: 98,905,405 (GRCm39)	E35G	possibly damaging	Het
Hhipl1	A	G	12: 108,288,156 (GRCm39)		probably benign	Het
Ift80	A	T	3: 68,822,008 (GRCm39)	L679Q	probably damaging	Het
Il18	A	G	9: 50,488,013 (GRCm39)		probably benign	Het
Inhbb	T	C	1: 119,345,125 (GRCm39)	Y388C	probably damaging	Het
Kmt2d	G	T	15: 98,742,360 (GRCm39)		probably benign	Het
Krt20	A	G	11: 99,328,640 (GRCm39)	V95A	probably damaging	Het
Lck	A	T	4: 129,449,474 (GRCm39)	S274R	possibly damaging	Het
Lrp1	T	A	10: 127,376,848 (GRCm39)	N4243I	probably damaging	Het
Lrrfip2	G	A	9: 111,043,311 (GRCm39)	V506I	probably damaging	Het
Ltbp2	A	G	12: 84,840,507 (GRCm39)	C1000R	probably damaging	Het
Matn3	G	A	12: 9,002,105 (GRCm39)	D106N	probably damaging	Het
Mical2	A	G	7: 111,980,503 (GRCm39)	E49G	probably benign	Het
Mmadhc	A	G	2: 50,182,869 (GRCm39)	S36P	probably damaging	Het
Morn1	T	C	4: 155,229,629 (GRCm39)	Y433H	probably damaging	Het
Mpo	A	G	11: 87,692,436 (GRCm39)	M525V	probably benign	Het
Myo5a	C	T	9: 75,068,774 (GRCm39)	R659C	probably damaging	Het
Obox6	T	C	7: 15,568,364 (GRCm39)	S171G	probably benign	Het
Or1j18	A	G	2: 36,624,917 (GRCm39)	N195D	probably damaging	Het
Or4k36	T	A	2: 111,146,518 (GRCm39)	D231E	probably benign	Het
Or5g29	A	T	2: 85,421,696 (GRCm39)	N271Y	probably benign	Het
P2ry14	A	G	3: 59,023,314 (GRCm39)	Y49H	probably benign	Het
Papss2	C	T	19: 32,611,302 (GRCm39)	T17I	possibly damaging	Het
Pcid2	T	C	8: 13,135,392 (GRCm39)	T206A	probably benign	Het
Pex6	A	G	17: 47,022,844 (GRCm39)	E140G	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prdx2	T	G	8: 85,698,330 (GRCm39)		probably benign	Het
Ptbp2	A	T	3: 119,514,310 (GRCm39)	L471Q	probably damaging	Het
Rbm33	T	A	5: 28,557,604 (GRCm39)	D232E	possibly damaging	Het
Rnf214	T	A	9: 45,809,791 (GRCm39)		probably null	Het
Rora	G	A	9: 69,281,330 (GRCm39)	R314H	probably damaging	Het
Rufy4	T	C	1: 74,168,095 (GRCm39)		probably benign	Het
Sag	T	C	1: 87,742,402 (GRCm39)	V58A	probably damaging	Het
Serpina3i	C	T	12: 104,231,423 (GRCm39)	T20M	probably damaging	Het
Slc4a5	A	G	6: 83,254,537 (GRCm39)	N578S	probably benign	Het
Soat2	A	G	15: 102,066,574 (GRCm39)	Y285C	probably damaging	Het
Syk	A	G	13: 52,794,769 (GRCm39)	Y478C	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tas2r126	A	T	6: 42,412,036 (GRCm39)	M190L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ttc19	A	G	11: 62,199,910 (GRCm39)	D218G	probably damaging	Het
Tut1	T	C	19: 8,942,800 (GRCm39)	V629A	probably damaging	Het
Txndc11	T	C	16: 10,905,968 (GRCm39)	N521D	probably benign	Het
Ushbp1	T	C	8: 71,841,614 (GRCm39)	E405G	possibly damaging	Het
Usp46	C	T	5: 74,163,918 (GRCm39)	R246Q	probably benign	Het
Utrn	T	C	10: 12,610,948 (GRCm39)	D469G	probably damaging	Het
Vmn2r104	T	A	17: 20,262,075 (GRCm39)	I352F	possibly damaging	Het
Wdr4	G	A	17: 31,715,890 (GRCm39)	T398I	probably benign	Het
Ythdc1	T	A	5: 86,968,560 (GRCm39)		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
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
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'- ATCCCCGAGAGGGAAATTCCTGAC -3'
(R):5'- TTGTGATGAGTATCAAACCCAGGGC -3'

Sequencing Primer
(F):5'- GGAAGAGATAGCCACCAGCTATTC -3'
(R):5'- GGCCTCATCACTGACAGTC -3'

Posted On

2013-04-11