Incidental Mutation 'R5350:Abca5'
ID 500999
Institutional Source Beutler Lab
Gene Symbol Abca5
Ensembl Gene ENSMUSG00000018800
Gene Name ATP-binding cassette, sub-family A member 5
Synonyms ABC13, B930033A02Rik
MMRRC Submission 042929-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R5350 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 110160195-110228542 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 110210622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 186 (Q186*)
Ref Sequence ENSEMBL: ENSMUSP00000120708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043961] [ENSMUST00000124714] [ENSMUST00000134721]
AlphaFold Q8K448
Predicted Effect probably null
Transcript: ENSMUST00000043961
AA Change: Q186*
SMART Domains Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: Q186*

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
AA Change: Q186*
SMART Domains Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: Q186*

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
Predicted Effect probably benign
Transcript: ENSMUST00000134721
SMART Domains Protein: ENSMUSP00000118328
Gene: ENSMUSG00000018800

DomainStartEndE-ValueType
transmembrane domain 36 53 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,006,364 (GRCm39) V1247A probably benign Het
Acaca A T 11: 84,106,699 (GRCm39) M133L probably damaging Het
Acacb C T 5: 114,382,612 (GRCm39) A2100V probably damaging Het
Adamts16 T A 13: 70,901,315 (GRCm39) K921* probably null Het
Ankrd55 T G 13: 112,472,760 (GRCm39) V144G probably damaging Het
Arap3 A G 18: 38,115,088 (GRCm39) L976P probably damaging Het
Atg2a T A 19: 6,301,368 (GRCm39) V814E probably damaging Het
Atp2b2 A T 6: 113,736,199 (GRCm39) M960K probably damaging Het
Bag1 C T 4: 40,948,007 (GRCm39) G66S possibly damaging Het
Bmp8a A T 4: 123,207,088 (GRCm39) M391K probably damaging Het
Capns1 C A 7: 29,889,551 (GRCm39) R216L probably damaging Het
Cdk13 T C 13: 17,978,515 (GRCm39) probably benign Het
Cmtm3 T C 8: 105,070,465 (GRCm39) F75L probably damaging Het
Cops4 T A 5: 100,666,405 (GRCm39) D21E possibly damaging Het
Dach1 G T 14: 98,207,395 (GRCm39) A318E probably damaging Het
Ddx27 A G 2: 166,869,780 (GRCm39) probably benign Het
Disp2 A G 2: 118,618,056 (GRCm39) T201A probably benign Het
Dnah2 G T 11: 69,406,862 (GRCm39) D214E possibly damaging Het
Dnah7b G T 1: 46,272,849 (GRCm39) G2326C probably benign Het
Dusp5 T C 19: 53,529,665 (GRCm39) F356S probably damaging Het
Duxf3 C A 10: 58,066,915 (GRCm39) S528I probably damaging Het
Ell T A 8: 70,992,439 (GRCm39) V28E probably damaging Het
Evi5 C T 5: 107,963,544 (GRCm39) D344N probably benign Het
Fv1 G T 4: 147,954,546 (GRCm39) V371L possibly damaging Het
Gemin5 A G 11: 58,032,412 (GRCm39) probably null Het
Glce A T 9: 61,967,587 (GRCm39) Y521* probably null Het
Grn T A 11: 102,327,070 (GRCm39) L556Q possibly damaging Het
Icam1 C A 9: 20,939,182 (GRCm39) Y518* probably null Het
Jag2 A T 12: 112,872,542 (GRCm39) S1237R possibly damaging Het
Macf1 A T 4: 123,421,251 (GRCm39) M1K probably null Het
Nbea T C 3: 55,926,845 (GRCm39) E786G probably damaging Het
Nr4a2 A G 2: 57,001,877 (GRCm39) M192T probably damaging Het
Or2v2 T C 11: 49,003,879 (GRCm39) T225A probably benign Het
Or4a73 T A 2: 89,421,432 (GRCm39) E9V possibly damaging Het
Or52s1b T A 7: 102,822,766 (GRCm39) H26L probably damaging Het
Or7e169 A T 9: 19,757,912 (GRCm39) M1K probably null Het
Pcnx4 A C 12: 72,626,138 (GRCm39) N1115H probably damaging Het
Ppargc1b A G 18: 61,442,134 (GRCm39) S585P possibly damaging Het
Ppip5k2 C T 1: 97,648,853 (GRCm39) S1024N probably damaging Het
Prkar1b C T 5: 139,092,383 (GRCm39) E145K probably damaging Het
Psd3 T A 8: 68,361,513 (GRCm39) T539S probably benign Het
Rit2 A G 18: 31,449,905 (GRCm39) V31A probably damaging Het
Rps6kc1 G A 1: 190,531,663 (GRCm39) P780S probably benign Het
Serpina6 G T 12: 103,614,838 (GRCm39) T336K possibly damaging Het
Smo A T 6: 29,754,466 (GRCm39) Q232L probably benign Het
Stx2 T C 5: 129,068,155 (GRCm39) D184G probably damaging Het
Tmprss11d T C 5: 86,486,746 (GRCm39) Y48C probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Other mutations in Abca5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Abca5 APN 11 110,200,276 (GRCm39) critical splice acceptor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- GGGAAAGGTCTAAAAGCTCAAATCC -3'
(R):5'- GTCCTGTAGAGAATGCCTGG -3'

Sequencing Primer
(F):5'- GCTCAAATCCTTCATAAGACAAGAG -3'
(R):5'- CTGTAGAGAATGCCTGGTTATATTGC -3'
Posted On 2017-12-01