Incidental Mutation 'IGL00487:Abca5'
ID 4474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abca5
Ensembl Gene ENSMUSG00000018800
Gene Name ATP-binding cassette, sub-family A member 5
Synonyms ABC13, B930033A02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL00487
Quality Score
Status
Chromosome 11
Chromosomal Location 110160195-110228542 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 110200276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043961] [ENSMUST00000124714]
AlphaFold Q8K448
Predicted Effect probably null
Transcript: ENSMUST00000043961
SMART Domains Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 29 416 4.3e-33 PFAM
AAA 506 691 2.88e-8 SMART
low complexity region 733 744 N/A INTRINSIC
transmembrane domain 864 886 N/A INTRINSIC
transmembrane domain 971 993 N/A INTRINSIC
low complexity region 1262 1267 N/A INTRINSIC
AAA 1325 1512 3.52e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000124714
SMART Domains Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 30 416 9.5e-32 PFAM
AAA 506 691 2.88e-8 SMART
low complexity region 733 744 N/A INTRINSIC
transmembrane domain 864 886 N/A INTRINSIC
transmembrane domain 971 993 N/A INTRINSIC
transmembrane domain 1019 1041 N/A INTRINSIC
transmembrane domain 1074 1096 N/A INTRINSIC
transmembrane domain 1103 1125 N/A INTRINSIC
transmembrane domain 1136 1158 N/A INTRINSIC
transmembrane domain 1165 1187 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127318
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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, and White). This encoded 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 gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cfap251 T G 5: 123,412,240 (GRCm39) I84S probably damaging Het
Dusp23 T C 1: 172,459,199 (GRCm39) probably benign Het
Invs C T 4: 48,407,689 (GRCm39) Q555* probably null Het
Mak16 T C 8: 31,656,778 (GRCm39) N9D probably benign Het
Mrps7 T C 11: 115,495,684 (GRCm39) I74T possibly damaging Het
Nlrp4a T G 7: 26,149,410 (GRCm39) V339G possibly damaging Het
Nucb1 A G 7: 45,151,075 (GRCm39) L102P probably damaging Het
Pdp2 T C 8: 105,320,829 (GRCm39) M226T probably benign Het
Pik3r2 T C 8: 71,223,073 (GRCm39) D449G probably damaging Het
Rnf157 G A 11: 116,253,181 (GRCm39) P76S probably benign Het
Senp6 C A 9: 80,021,120 (GRCm39) Q267K probably damaging Het
Slc9a2 A G 1: 40,781,818 (GRCm39) E349G probably damaging Het
Snx14 G T 9: 88,284,243 (GRCm39) S475Y probably damaging Het
Vmn1r180 A T 7: 23,651,948 (GRCm39) H37L probably benign Het
Xrn1 A T 9: 95,921,002 (GRCm39) H1371L probably benign Het
Other mutations in Abca5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00675:Abca5 APN 11 110,195,811 (GRCm39) missense probably damaging 1.00
IGL01512:Abca5 APN 11 110,208,649 (GRCm39) missense probably benign 0.40
IGL01559:Abca5 APN 11 110,163,352 (GRCm39) missense probably benign
IGL01584:Abca5 APN 11 110,195,749 (GRCm39) missense probably damaging 0.98
IGL01604:Abca5 APN 11 110,168,462 (GRCm39) missense possibly damaging 0.47
IGL01828:Abca5 APN 11 110,178,521 (GRCm39) missense probably benign
IGL01880:Abca5 APN 11 110,184,089 (GRCm39) missense probably benign 0.01
IGL02054:Abca5 APN 11 110,182,949 (GRCm39) missense probably damaging 0.99
IGL02074:Abca5 APN 11 110,184,176 (GRCm39) missense probably benign 0.00
IGL02233:Abca5 APN 11 110,165,170 (GRCm39) nonsense probably null
IGL02245:Abca5 APN 11 110,188,995 (GRCm39) nonsense probably null
IGL02317:Abca5 APN 11 110,218,587 (GRCm39) missense probably benign 0.09
IGL02352:Abca5 APN 11 110,166,156 (GRCm39) missense probably benign 0.01
IGL02359:Abca5 APN 11 110,166,156 (GRCm39) missense probably benign 0.01
IGL02390:Abca5 APN 11 110,187,377 (GRCm39) missense probably benign
IGL02600:Abca5 APN 11 110,200,264 (GRCm39) missense probably benign 0.02
IGL02639:Abca5 APN 11 110,178,899 (GRCm39) missense possibly damaging 0.79
IGL03000:Abca5 APN 11 110,208,640 (GRCm39) missense probably benign 0.04
IGL03074:Abca5 APN 11 110,201,101 (GRCm39) missense probably benign 0.01
IGL03078:Abca5 APN 11 110,167,371 (GRCm39) nonsense probably null
IGL03342:Abca5 APN 11 110,178,517 (GRCm39) missense possibly damaging 0.94
IGL03368:Abca5 APN 11 110,204,348 (GRCm39) splice site probably benign
atles UTSW 11 110,190,755 (GRCm39) missense probably damaging 0.99
Demento UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
jones UTSW 11 110,178,884 (GRCm39) splice site probably null
smith UTSW 11 110,192,371 (GRCm39) missense probably benign 0.22
R0106:Abca5 UTSW 11 110,210,651 (GRCm39) missense probably damaging 1.00
R0116:Abca5 UTSW 11 110,167,331 (GRCm39) missense probably damaging 1.00
R0305:Abca5 UTSW 11 110,164,137 (GRCm39) splice site probably benign
R0550:Abca5 UTSW 11 110,184,666 (GRCm39) missense probably damaging 1.00
R0578:Abca5 UTSW 11 110,167,315 (GRCm39) nonsense probably null
R0587:Abca5 UTSW 11 110,202,203 (GRCm39) missense probably benign 0.00
R0610:Abca5 UTSW 11 110,192,353 (GRCm39) missense probably benign 0.00
R0617:Abca5 UTSW 11 110,170,515 (GRCm39) missense probably damaging 0.98
R0667:Abca5 UTSW 11 110,218,637 (GRCm39) missense probably benign 0.00
R0844:Abca5 UTSW 11 110,210,658 (GRCm39) missense probably benign 0.00
R1273:Abca5 UTSW 11 110,217,491 (GRCm39) missense probably benign 0.01
R1463:Abca5 UTSW 11 110,205,384 (GRCm39) missense probably damaging 1.00
R1511:Abca5 UTSW 11 110,190,812 (GRCm39) missense possibly damaging 0.73
R1511:Abca5 UTSW 11 110,190,804 (GRCm39) missense probably damaging 1.00
R1687:Abca5 UTSW 11 110,184,714 (GRCm39) missense probably benign 0.32
R1759:Abca5 UTSW 11 110,184,674 (GRCm39) missense probably benign
R1870:Abca5 UTSW 11 110,220,043 (GRCm39) missense probably benign 0.33
R2006:Abca5 UTSW 11 110,204,275 (GRCm39) missense probably benign
R2039:Abca5 UTSW 11 110,190,755 (GRCm39) missense probably damaging 0.99
R2076:Abca5 UTSW 11 110,178,478 (GRCm39) missense probably benign 0.10
R2136:Abca5 UTSW 11 110,210,658 (GRCm39) missense probably benign 0.00
R2154:Abca5 UTSW 11 110,183,000 (GRCm39) missense probably benign 0.00
R2273:Abca5 UTSW 11 110,166,107 (GRCm39) missense possibly damaging 0.93
R2274:Abca5 UTSW 11 110,166,107 (GRCm39) missense possibly damaging 0.93
R2275:Abca5 UTSW 11 110,166,107 (GRCm39) missense possibly damaging 0.93
R2328:Abca5 UTSW 11 110,167,347 (GRCm39) missense probably damaging 0.99
R3702:Abca5 UTSW 11 110,178,884 (GRCm39) splice site probably null
R3768:Abca5 UTSW 11 110,204,217 (GRCm39) missense probably benign 0.01
R3872:Abca5 UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
R3873:Abca5 UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
R3874:Abca5 UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
R3875:Abca5 UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
R4347:Abca5 UTSW 11 110,190,794 (GRCm39) missense probably damaging 1.00
R4429:Abca5 UTSW 11 110,202,236 (GRCm39) missense probably benign 0.00
R4790:Abca5 UTSW 11 110,202,236 (GRCm39) missense possibly damaging 0.63
R4812:Abca5 UTSW 11 110,192,647 (GRCm39) missense probably damaging 1.00
R4833:Abca5 UTSW 11 110,170,142 (GRCm39) missense probably benign 0.00
R4883:Abca5 UTSW 11 110,217,457 (GRCm39) missense probably damaging 1.00
R5000:Abca5 UTSW 11 110,201,050 (GRCm39) missense probably damaging 1.00
R5004:Abca5 UTSW 11 110,170,202 (GRCm39) missense probably damaging 0.99
R5066:Abca5 UTSW 11 110,200,176 (GRCm39) intron probably benign
R5230:Abca5 UTSW 11 110,210,686 (GRCm39) missense probably benign
R5321:Abca5 UTSW 11 110,218,651 (GRCm39) missense probably benign
R5350:Abca5 UTSW 11 110,210,622 (GRCm39) nonsense probably null
R5414:Abca5 UTSW 11 110,205,448 (GRCm39) missense probably damaging 1.00
R5437:Abca5 UTSW 11 110,210,622 (GRCm39) nonsense probably null
R5451:Abca5 UTSW 11 110,210,622 (GRCm39) nonsense probably null
R5453:Abca5 UTSW 11 110,210,622 (GRCm39) nonsense probably null
R5488:Abca5 UTSW 11 110,183,009 (GRCm39) missense probably benign 0.00
R5636:Abca5 UTSW 11 110,192,362 (GRCm39) missense probably benign 0.00
R5805:Abca5 UTSW 11 110,170,216 (GRCm39) missense probably benign 0.06
R5900:Abca5 UTSW 11 110,169,982 (GRCm39) missense possibly damaging 0.92
R6152:Abca5 UTSW 11 110,204,187 (GRCm39) missense probably damaging 1.00
R6167:Abca5 UTSW 11 110,182,931 (GRCm39) missense probably benign 0.10
R6343:Abca5 UTSW 11 110,205,378 (GRCm39) missense probably damaging 1.00
R6425:Abca5 UTSW 11 110,220,058 (GRCm39) missense possibly damaging 0.75
R6493:Abca5 UTSW 11 110,184,704 (GRCm39) missense probably benign 0.00
R6498:Abca5 UTSW 11 110,182,928 (GRCm39) missense possibly damaging 0.70
R6884:Abca5 UTSW 11 110,220,043 (GRCm39) missense probably damaging 0.96
R6912:Abca5 UTSW 11 110,197,106 (GRCm39) missense probably benign 0.35
R7084:Abca5 UTSW 11 110,192,371 (GRCm39) missense probably benign 0.22
R7239:Abca5 UTSW 11 110,217,530 (GRCm39) missense possibly damaging 0.94
R7490:Abca5 UTSW 11 110,168,437 (GRCm39) missense possibly damaging 0.95
R7527:Abca5 UTSW 11 110,218,556 (GRCm39) critical splice donor site probably null
R7702:Abca5 UTSW 11 110,167,278 (GRCm39) critical splice donor site probably null
R7763:Abca5 UTSW 11 110,163,323 (GRCm39) missense possibly damaging 0.85
R8237:Abca5 UTSW 11 110,200,981 (GRCm39) missense probably benign 0.01
R8910:Abca5 UTSW 11 110,189,030 (GRCm39) missense probably damaging 0.96
R9028:Abca5 UTSW 11 110,188,904 (GRCm39) missense probably damaging 1.00
R9124:Abca5 UTSW 11 110,189,005 (GRCm39) missense possibly damaging 0.91
R9151:Abca5 UTSW 11 110,188,908 (GRCm39) missense probably benign
R9187:Abca5 UTSW 11 110,200,961 (GRCm39) critical splice donor site probably null
R9249:Abca5 UTSW 11 110,220,165 (GRCm39) intron probably benign
R9322:Abca5 UTSW 11 110,192,331 (GRCm39) missense probably damaging 0.96
R9391:Abca5 UTSW 11 110,178,542 (GRCm39) missense probably benign
R9435:Abca5 UTSW 11 110,182,911 (GRCm39) critical splice donor site probably null
R9557:Abca5 UTSW 11 110,197,109 (GRCm39) missense probably damaging 1.00
R9660:Abca5 UTSW 11 110,168,248 (GRCm39) missense possibly damaging 0.80
R9788:Abca5 UTSW 11 110,192,253 (GRCm39) missense probably damaging 1.00
RF014:Abca5 UTSW 11 110,170,580 (GRCm39) critical splice acceptor site probably null
Z1177:Abca5 UTSW 11 110,170,154 (GRCm39) missense probably benign 0.04
Posted On 2012-04-20