Incidental Mutation 'R1533:Abca4'
ID 166726
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 039572-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1533 (G1)
Quality Score 152
Status Not validated
Chromosome 3
Chromosomal Location 121838092-121973772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 121928807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Alanine at position 1340 (G1340A)
Ref Sequence ENSEMBL: ENSMUSP00000013995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013995] [ENSMUST00000141135]
AlphaFold O35600
Predicted Effect probably benign
Transcript: ENSMUST00000013995
AA Change: G1340A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000013995
Gene: ENSMUSG00000028125
AA Change: G1340A

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000141135
AA Change: G132A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000143560
Gene: ENSMUSG00000028125
AA Change: G132A

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 T A 2: 91,717,210 (GRCm39) Y836N probably damaging Het
Arhgap26 A T 18: 39,504,130 (GRCm39) H144L probably benign Het
B3gnt5 A G 16: 19,588,364 (GRCm39) I194M probably damaging Het
Bltp1 G T 3: 37,095,524 (GRCm39) G4509V probably damaging Het
Bod1l A T 5: 41,979,498 (GRCm39) C605* probably null Het
C2cd3 G T 7: 100,055,284 (GRCm39) K482N possibly damaging Het
Cd300lg T A 11: 101,934,047 (GRCm39) L98Q probably damaging Het
Cerkl T A 2: 79,171,701 (GRCm39) I386F possibly damaging Het
Cfh T A 1: 140,028,716 (GRCm39) D466V possibly damaging Het
Crtc1 A T 8: 70,850,949 (GRCm39) I221N probably damaging Het
Ctnnbl1 T C 2: 157,678,563 (GRCm39) S389P probably benign Het
Ctsb A T 14: 63,376,544 (GRCm39) D258V probably damaging Het
Cuzd1 G T 7: 130,913,432 (GRCm39) T395N probably damaging Het
Dnah6 T C 6: 73,128,536 (GRCm39) T1240A probably benign Het
Dok7 T A 5: 35,221,671 (GRCm39) probably null Het
Dscaml1 T C 9: 45,361,882 (GRCm39) V214A probably damaging Het
Enpp6 A T 8: 47,518,469 (GRCm39) Y199F probably benign Het
Entpd5 C A 12: 84,441,434 (GRCm39) K111N probably damaging Het
Fam98a A G 17: 75,848,276 (GRCm39) L146S probably damaging Het
Fhod3 A T 18: 25,248,921 (GRCm39) I1367F probably damaging Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Fpr3 T A 17: 18,190,922 (GRCm39) Y64* probably null Het
Fzd6 A T 15: 38,895,019 (GRCm39) H395L probably damaging Het
Gcsh T A 8: 117,715,921 (GRCm39) H54L probably damaging Het
Gsdma T A 11: 98,567,210 (GRCm39) S437T unknown Het
Gzmc A G 14: 56,471,376 (GRCm39) V55A probably damaging Het
Hecw2 T A 1: 53,965,704 (GRCm39) probably null Het
Ifi207 A G 1: 173,555,306 (GRCm39) V792A probably benign Het
Itpr3 C A 17: 27,314,534 (GRCm39) N661K possibly damaging Het
Jmy A T 13: 93,577,819 (GRCm39) I783N probably benign Het
Kcmf1 T C 6: 72,820,003 (GRCm39) E281G possibly damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lgr6 T A 1: 135,032,670 (GRCm39) Y70F possibly damaging Het
Lnx1 T G 5: 74,780,678 (GRCm39) D330A probably damaging Het
Lrp5 T C 19: 3,664,234 (GRCm39) N106S probably benign Het
Mamdc4 C A 2: 25,459,759 (GRCm39) R135L possibly damaging Het
Mcm3ap A G 10: 76,340,121 (GRCm39) E1464G probably damaging Het
Megf8 T C 7: 25,034,280 (GRCm39) V666A possibly damaging Het
Mettl3 T A 14: 52,534,385 (GRCm39) E331D probably benign Het
Mphosph9 T C 5: 124,405,204 (GRCm39) K789R probably damaging Het
Mtf2 T C 5: 108,239,995 (GRCm39) L234P probably damaging Het
Ncdn C A 4: 126,642,491 (GRCm39) E389* probably null Het
Ndor1 A G 2: 25,139,279 (GRCm39) S231P probably damaging Het
Nelfa T G 5: 34,056,215 (GRCm39) K483Q probably damaging Het
Odad1 T A 7: 45,592,282 (GRCm39) M354K probably benign Het
Opn1sw C T 6: 29,378,923 (GRCm39) R243Q probably benign Het
Or13a24 T A 7: 140,155,034 (GRCm39) probably null Het
Or9e1 A G 11: 58,732,792 (GRCm39) N284S probably damaging Het
Pik3cd T C 4: 149,739,653 (GRCm39) E584G probably damaging Het
Plcb3 A T 19: 6,935,041 (GRCm39) M870K possibly damaging Het
Poc5 A G 13: 96,528,152 (GRCm39) D16G probably damaging Het
Prpf40a A G 2: 53,035,852 (GRCm39) I633T probably damaging Het
Ptpn13 G T 5: 103,704,044 (GRCm39) E1359* probably null Het
Ptprr C A 10: 116,024,113 (GRCm39) Y4* probably null Het
Rbm45 T C 2: 76,202,503 (GRCm39) probably null Het
Rfng C T 11: 120,672,687 (GRCm39) W320* probably null Het
Rgs6 G T 12: 83,138,547 (GRCm39) V294L probably benign Het
Rufy4 T C 1: 74,169,002 (GRCm39) probably null Het
Ruvbl2 T A 7: 45,073,566 (GRCm39) N313I probably damaging Het
Sema4g G A 19: 44,981,256 (GRCm39) V70M probably damaging Het
Siglec1 T C 2: 130,918,078 (GRCm39) T969A probably benign Het
Slc22a27 T A 19: 7,844,348 (GRCm39) T431S possibly damaging Het
Slc25a16 G A 10: 62,756,643 (GRCm39) R38H probably damaging Het
Slc38a6 T C 12: 73,391,626 (GRCm39) V296A probably benign Het
Slc39a11 C T 11: 113,196,748 (GRCm39) V212I probably damaging Het
Sltm A G 9: 70,493,948 (GRCm39) K782E probably damaging Het
Styxl1 T A 5: 135,799,175 (GRCm39) Y23F probably damaging Het
Svs4 T C 2: 164,120,148 (GRCm39) I20V unknown Het
Syt14 G T 1: 192,613,084 (GRCm39) T572K possibly damaging Het
Tbc1d5 A T 17: 51,227,603 (GRCm39) I214N possibly damaging Het
Tm9sf3 A G 19: 41,227,223 (GRCm39) S283P probably benign Het
Tmtc1 C T 6: 148,147,208 (GRCm39) probably null Het
Ttll7 T A 3: 146,602,422 (GRCm39) N73K probably damaging Het
Ttn T A 2: 76,602,802 (GRCm39) K18473N probably damaging Het
Ubr2 A C 17: 47,278,173 (GRCm39) Y721* probably null Het
Vmn1r14 T A 6: 57,211,286 (GRCm39) I288N probably damaging Het
Vmn2r103 T C 17: 19,993,662 (GRCm39) I13T probably benign Het
Vps13a A T 19: 16,678,494 (GRCm39) Y1162* probably null Het
Vps51 C A 19: 6,121,497 (GRCm39) R175L probably benign Het
Zfp523 C A 17: 28,423,473 (GRCm39) S149R probably benign Het
Zik1 A G 7: 10,224,053 (GRCm39) I348T possibly damaging Het
Znfx1 T A 2: 166,898,708 (GRCm39) H72L probably benign Het
Other mutations in Abca4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TCCAATATCCCTTAGGTGGCGCTC -3'
(R):5'- ACGTTTGCCAAGGAAGACGAATAGC -3'

Sequencing Primer
(F):5'- TTAGGTGGCGCTCAGCAG -3'
(R):5'- cacacaccacacacacatac -3'
Posted On 2014-04-13