Incidental Mutation 'R7414:Abca4'
ID 575274
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 045494-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7414 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 121838092-121973772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121896387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 540 (S540T)
Ref Sequence ENSEMBL: ENSMUSP00000013995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013995]
AlphaFold O35600
Predicted Effect probably benign
Transcript: ENSMUST00000013995
AA Change: S540T

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000013995
Gene: ENSMUSG00000028125
AA Change: S540T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (98/101)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik G A 5: 139,349,779 (GRCm39) T90M probably damaging Het
Adcy4 G A 14: 56,019,090 (GRCm39) L156F probably benign Het
Adcyap1 T A 17: 93,510,256 (GRCm39) L95M probably damaging Het
Ahctf1 T C 1: 179,611,670 (GRCm39) T567A probably benign Het
Ankrd26 T C 6: 118,485,741 (GRCm39) I1378V possibly damaging Het
Ankrd44 T A 1: 54,706,539 (GRCm39) H639L probably damaging Het
Arfrp1 C T 2: 181,001,307 (GRCm39) R189Q possibly damaging Het
Astn2 T C 4: 65,459,193 (GRCm39) D1126G possibly damaging Het
Bap1 G C 14: 30,975,572 (GRCm39) G139R probably benign Het
Bms1 C T 6: 118,360,706 (GRCm39) R1254Q possibly damaging Het
Ceacam15 A G 7: 16,407,235 (GRCm39) V94A probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cip2a T C 16: 48,821,998 (GRCm39) F209L probably benign Het
Clec2m T C 6: 129,302,596 (GRCm39) T144A probably benign Het
Clock T C 5: 76,410,611 (GRCm39) T87A probably benign Het
Cntrl A T 2: 35,055,479 (GRCm39) I1706L probably benign Het
Cr2 C A 1: 194,832,344 (GRCm39) V981L probably benign Het
Cxcr6 G A 9: 123,639,287 (GRCm39) W103* probably null Het
Dld A T 12: 31,385,525 (GRCm39) F272Y probably damaging Het
Dmrt2 T A 19: 25,650,950 (GRCm39) D45E probably benign Het
Eif2a T A 3: 58,433,502 (GRCm39) L8* probably null Het
Epg5 G T 18: 78,026,747 (GRCm39) R1246L possibly damaging Het
Ets1 T A 9: 32,664,153 (GRCm39) C350* probably null Het
Fam135b C T 15: 71,350,105 (GRCm39) R345Q probably damaging Het
Fbn2 C T 18: 58,229,122 (GRCm39) R696H probably damaging Het
Gbf1 C A 19: 46,271,797 (GRCm39) Y159* probably null Het
Gcsam T C 16: 45,437,301 (GRCm39) probably null Het
Gmpr2 G T 14: 55,910,259 (GRCm39) probably null Het
H2-T3 C A 17: 36,498,275 (GRCm39) V257L not run Het
Hadha A G 5: 30,331,610 (GRCm39) F449L possibly damaging Het
Haus3 T A 5: 34,323,477 (GRCm39) I378L probably benign Het
Hdac7 T A 15: 97,706,392 (GRCm39) H272L probably benign Het
Icam5 T C 9: 20,948,889 (GRCm39) V747A probably damaging Het
Ifrd2 G A 9: 107,467,370 (GRCm39) V81M possibly damaging Het
Insyn2a G T 7: 134,519,738 (GRCm39) A264D probably benign Het
Ipcef1 G T 10: 6,840,673 (GRCm39) C345* probably null Het
Ipmk T A 10: 71,217,124 (GRCm39) F223I probably damaging Het
Itpr2 A T 6: 146,274,706 (GRCm39) N825K probably benign Het
Itprid2 A G 2: 79,475,072 (GRCm39) K344E possibly damaging Het
Kazn G A 4: 141,836,649 (GRCm39) T530I Het
Kmt2d C T 15: 98,737,737 (GRCm39) V5120M unknown Het
Krt6b T G 15: 101,587,449 (GRCm39) D215A probably benign Het
Lgals12 T C 19: 7,581,335 (GRCm39) K124R probably damaging Het
Lpar6 T A 14: 73,476,240 (GRCm39) V67D probably damaging Het
Lrch3 T C 16: 32,818,883 (GRCm39) Y661H probably damaging Het
Lrrc32 A T 7: 98,149,201 (GRCm39) Q660H probably benign Het
Lurap1l T A 4: 80,871,991 (GRCm39) H161Q probably benign Het
Map3k19 A G 1: 127,766,189 (GRCm39) I245T probably damaging Het
Mcf2l T A 8: 13,069,022 (GRCm39) *1119K probably null Het
Mertk C A 2: 128,571,313 (GRCm39) A89E possibly damaging Het
Mical3 A T 6: 121,011,074 (GRCm39) Y375N probably damaging Het
Myo15a T A 11: 60,374,309 (GRCm39) D121E Het
N4bp2l1 T A 5: 150,499,758 (GRCm39) N116I probably damaging Het
Nbeal1 T C 1: 60,233,756 (GRCm39) probably null Het
Nlrp12 A T 7: 3,289,977 (GRCm39) D178E probably benign Het
Nt5c2 C A 19: 46,878,328 (GRCm39) G444C probably damaging Het
Or10g7 T A 9: 39,905,349 (GRCm39) M81K possibly damaging Het
Or2f1b T A 6: 42,739,762 (GRCm39) Y259N probably damaging Het
Or8b48 T C 9: 38,492,764 (GRCm39) F64L probably benign Het
Pdcl2 A C 5: 76,460,359 (GRCm39) S220A possibly damaging Het
Pip5kl1 T C 2: 32,468,247 (GRCm39) S138P possibly damaging Het
Pkd1l1 A T 11: 8,866,267 (GRCm39) N979K Het
Prkcb A T 7: 122,167,450 (GRCm39) T387S possibly damaging Het
Pxdc1 A G 13: 34,821,135 (GRCm39) probably benign Het
Sbf2 C T 7: 109,913,271 (GRCm39) E1668K possibly damaging Het
Sec16a T G 2: 26,313,643 (GRCm39) T455P Het
Sec24b C A 3: 129,803,514 (GRCm39) V412F probably benign Het
Serpina3b A G 12: 104,099,145 (GRCm39) N220S probably benign Het
Sgip1 C T 4: 102,824,821 (GRCm39) Q581* probably null Het
Shf A T 2: 122,190,063 (GRCm39) I175N possibly damaging Het
Slc16a10 G A 10: 40,017,992 (GRCm39) T14M probably benign Het
Slc22a4 A T 11: 53,888,254 (GRCm39) M258K probably benign Het
Slfn8 A T 11: 82,907,618 (GRCm39) Y308* probably null Het
Slfnl1 T C 4: 120,392,451 (GRCm39) Y249H probably damaging Het
Smchd1 T C 17: 71,782,074 (GRCm39) Y29C probably damaging Het
Snai1 C A 2: 167,380,588 (GRCm39) probably null Het
Sntg1 T C 1: 8,518,289 (GRCm39) Y368C probably damaging Het
Snx33 C T 9: 56,833,151 (GRCm39) R306H probably damaging Het
Spop G A 11: 95,365,334 (GRCm39) V126M probably damaging Het
Taar3 A T 10: 23,825,715 (GRCm39) Y87F probably damaging Het
Tarm1 C A 7: 3,545,318 (GRCm39) M177I probably benign Het
Tcerg1l A G 7: 137,819,786 (GRCm39) F485L probably damaging Het
Thsd7b A T 1: 129,556,717 (GRCm39) I435F probably damaging Het
Tiam2 A G 17: 3,464,388 (GRCm39) D39G possibly damaging Het
Tigd4 T C 3: 84,501,128 (GRCm39) V15A probably benign Het
Tll2 T C 19: 41,092,268 (GRCm39) D523G probably damaging Het
Tmem117 A G 15: 94,612,776 (GRCm39) D104G probably damaging Het
Tmem132b T C 5: 125,864,555 (GRCm39) L887P probably damaging Het
Tnfrsf26 A T 7: 143,168,642 (GRCm39) V132D probably damaging Het
Tomt T A 7: 101,549,715 (GRCm39) D191V probably damaging Het
Ttc39b T C 4: 83,160,459 (GRCm39) M373V probably damaging Het
Ttn G A 2: 76,568,493 (GRCm39) P27467S possibly damaging Het
Ttn A C 2: 76,573,130 (GRCm39) V25921G probably damaging Het
Ubxn2a A C 12: 4,941,381 (GRCm39) V75G probably damaging Het
Uchl5 A T 1: 143,682,433 (GRCm39) K319N unknown Het
Ugt2b1 T C 5: 87,073,693 (GRCm39) D222G probably damaging Het
Vmn1r213 A G 13: 23,195,446 (GRCm39) I10V unknown Het
Vps13b T C 15: 35,910,973 (GRCm39) I3579T probably damaging Het
Xpo5 T A 17: 46,532,295 (GRCm39) H443Q probably benign Het
Zfp316 A G 5: 143,250,407 (GRCm39) M2T unknown Het
Zscan4-ps2 A G 7: 11,251,359 (GRCm39) T160A possibly damaging 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
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
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'- CTAGGCACACAAAGAAATTAATGGC -3'
(R):5'- TGGAGAAACCTTTCAAGACTGAG -3'

Sequencing Primer
(F):5'- GGCAGACCCTGTAATTAAATACATAG -3'
(R):5'- AAGACTGAGCCATCACCTGTCTTTG -3'
Posted On 2019-10-07