Incidental Mutation 'IGL00851:Abca15'
ID 8524
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abca15
Ensembl Gene ENSMUSG00000054746
Gene Name ATP-binding cassette, sub-family A member 15
Synonyms 4930500I12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL00851
Quality Score
Status
Chromosome 7
Chromosomal Location 119927893-120006910 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119939230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 208 (F208S)
Ref Sequence ENSEMBL: ENSMUSP00000112821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076272] [ENSMUST00000121265]
AlphaFold E9PWH4
Predicted Effect probably damaging
Transcript: ENSMUST00000076272
AA Change: F208S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746
AA Change: F208S

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 24 464 5.7e-21 PFAM
AAA 550 732 9.14e-11 SMART
Pfam:ABC2_membrane_3 892 1293 7.9e-24 PFAM
AAA 1381 1565 1.16e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121265
AA Change: F208S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746
AA Change: F208S

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 24 464 2.1e-21 PFAM
AAA 550 732 9.14e-11 SMART
Pfam:ABC2_membrane_3 907 1293 1e-25 PFAM
AAA 1381 1565 1.16e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140459
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted(2

Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 T C 10: 69,710,663 (GRCm39) I396T probably damaging Het
Atp9b T G 18: 80,809,125 (GRCm39) E215A probably damaging Het
Ces1c T A 8: 93,849,745 (GRCm39) I70F probably benign Het
Cntnap2 T C 6: 46,461,006 (GRCm39) Y681H probably benign Het
Diaph2 A G X: 128,872,296 (GRCm39) K631R unknown Het
Gprasp2 A G X: 134,744,500 (GRCm39) T620A probably damaging Het
Hgd C T 16: 37,452,057 (GRCm39) S403F probably damaging Het
Hmcn1 T C 1: 150,458,052 (GRCm39) K5245E probably benign Het
Kng2 T C 16: 22,847,580 (GRCm39) D27G probably damaging Het
Myh1 C T 11: 67,108,736 (GRCm39) T1384M probably damaging Het
Myo1f A T 17: 33,800,938 (GRCm39) M260L probably benign Het
Plcb2 A G 2: 118,558,732 (GRCm39) I24T probably benign Het
Prdx1 C T 4: 116,550,147 (GRCm39) R110C probably benign Het
Ptges3l T C 11: 101,314,616 (GRCm39) E93G possibly damaging Het
Ralgapa1 T C 12: 55,756,360 (GRCm39) D1126G possibly damaging Het
Rbm48 T C 5: 3,641,739 (GRCm39) T169A probably damaging Het
Serpinb3b T A 1: 107,087,435 (GRCm39) N25Y probably damaging Het
Tekt3 T C 11: 62,961,226 (GRCm39) Y132H probably benign Het
Tmod4 A T 3: 95,032,891 (GRCm39) E9V probably damaging Het
Other mutations in Abca15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Abca15 APN 7 119,996,277 (GRCm39) missense probably damaging 1.00
IGL00505:Abca15 APN 7 119,968,459 (GRCm39) critical splice donor site probably null
IGL00985:Abca15 APN 7 119,996,241 (GRCm39) missense probably damaging 1.00
IGL01114:Abca15 APN 7 119,960,643 (GRCm39) missense probably damaging 0.99
IGL01287:Abca15 APN 7 119,932,081 (GRCm39) utr 3 prime probably benign
IGL01333:Abca15 APN 7 119,981,531 (GRCm39) missense probably damaging 1.00
IGL01482:Abca15 APN 7 119,981,969 (GRCm39) missense probably benign 0.00
IGL01610:Abca15 APN 7 119,939,867 (GRCm39) missense probably damaging 0.98
IGL02238:Abca15 APN 7 119,995,829 (GRCm39) missense probably benign 0.02
IGL02377:Abca15 APN 7 119,965,133 (GRCm39) splice site probably benign
IGL02666:Abca15 APN 7 119,934,431 (GRCm39) missense probably damaging 1.00
IGL02836:Abca15 APN 7 119,987,439 (GRCm39) missense probably benign
IGL03337:Abca15 APN 7 119,995,930 (GRCm39) missense probably benign 0.24
IGL03354:Abca15 APN 7 119,993,711 (GRCm39) nonsense probably null
H8562:Abca15 UTSW 7 119,974,077 (GRCm39) splice site probably benign
IGL03098:Abca15 UTSW 7 119,987,499 (GRCm39) splice site probably null
R0029:Abca15 UTSW 7 119,945,225 (GRCm39) missense probably benign 0.01
R0029:Abca15 UTSW 7 119,945,225 (GRCm39) missense probably benign 0.01
R0076:Abca15 UTSW 7 119,972,908 (GRCm39) splice site probably benign
R0165:Abca15 UTSW 7 119,950,126 (GRCm39) splice site probably benign
R0311:Abca15 UTSW 7 120,002,127 (GRCm39) missense probably damaging 0.98
R0387:Abca15 UTSW 7 119,932,075 (GRCm39) critical splice donor site probably null
R0610:Abca15 UTSW 7 119,965,009 (GRCm39) missense possibly damaging 0.75
R0612:Abca15 UTSW 7 119,936,478 (GRCm39) missense probably damaging 1.00
R0704:Abca15 UTSW 7 119,953,746 (GRCm39) missense probably damaging 0.98
R0890:Abca15 UTSW 7 119,972,936 (GRCm39) missense probably benign 0.01
R0961:Abca15 UTSW 7 119,960,208 (GRCm39) nonsense probably null
R1144:Abca15 UTSW 7 119,960,083 (GRCm39) splice site probably benign
R1412:Abca15 UTSW 7 119,944,546 (GRCm39) missense possibly damaging 0.93
R1419:Abca15 UTSW 7 119,974,125 (GRCm39) missense probably benign 0.10
R1467:Abca15 UTSW 7 119,939,761 (GRCm39) splice site probably null
R1467:Abca15 UTSW 7 119,939,761 (GRCm39) splice site probably null
R1469:Abca15 UTSW 7 119,981,720 (GRCm39) missense probably benign 0.00
R1469:Abca15 UTSW 7 119,981,720 (GRCm39) missense probably benign 0.00
R1493:Abca15 UTSW 7 119,981,513 (GRCm39) missense probably benign 0.00
R1513:Abca15 UTSW 7 119,939,322 (GRCm39) missense probably damaging 0.96
R1702:Abca15 UTSW 7 119,981,925 (GRCm39) missense probably benign 0.10
R1857:Abca15 UTSW 7 119,960,592 (GRCm39) missense probably damaging 1.00
R1893:Abca15 UTSW 7 119,939,776 (GRCm39) missense possibly damaging 0.85
R1901:Abca15 UTSW 7 119,945,322 (GRCm39) missense probably damaging 1.00
R1951:Abca15 UTSW 7 119,960,655 (GRCm39) missense probably damaging 1.00
R1953:Abca15 UTSW 7 119,960,655 (GRCm39) missense probably damaging 1.00
R1962:Abca15 UTSW 7 119,940,468 (GRCm39) missense probably damaging 1.00
R2063:Abca15 UTSW 7 119,960,127 (GRCm39) missense possibly damaging 0.61
R2141:Abca15 UTSW 7 120,006,697 (GRCm39) missense probably damaging 1.00
R2145:Abca15 UTSW 7 119,953,701 (GRCm39) missense probably benign 0.08
R2182:Abca15 UTSW 7 119,939,450 (GRCm39) nonsense probably null
R2425:Abca15 UTSW 7 119,959,033 (GRCm39) missense probably damaging 1.00
R2444:Abca15 UTSW 7 119,965,120 (GRCm39) missense probably damaging 1.00
R3023:Abca15 UTSW 7 119,982,002 (GRCm39) missense probably benign 0.40
R3079:Abca15 UTSW 7 119,984,392 (GRCm39) missense probably damaging 1.00
R3106:Abca15 UTSW 7 119,995,856 (GRCm39) missense possibly damaging 0.63
R3622:Abca15 UTSW 7 119,950,036 (GRCm39) nonsense probably null
R4085:Abca15 UTSW 7 119,981,949 (GRCm39) missense probably damaging 1.00
R4233:Abca15 UTSW 7 120,002,202 (GRCm39) nonsense probably null
R4591:Abca15 UTSW 7 119,981,636 (GRCm39) missense probably damaging 1.00
R4612:Abca15 UTSW 7 119,934,384 (GRCm39) missense probably benign 0.03
R4721:Abca15 UTSW 7 119,949,998 (GRCm39) missense probably benign 0.01
R4838:Abca15 UTSW 7 119,944,523 (GRCm39) missense probably benign 0.00
R4940:Abca15 UTSW 7 119,931,917 (GRCm39) missense probably benign
R4963:Abca15 UTSW 7 119,960,142 (GRCm39) missense probably damaging 1.00
R4993:Abca15 UTSW 7 120,000,941 (GRCm39) missense probably damaging 0.99
R5022:Abca15 UTSW 7 119,945,319 (GRCm39) missense probably damaging 0.98
R5030:Abca15 UTSW 7 119,939,224 (GRCm39) missense probably damaging 1.00
R5072:Abca15 UTSW 7 120,006,198 (GRCm39) missense probably damaging 1.00
R5090:Abca15 UTSW 7 119,984,422 (GRCm39) missense probably damaging 1.00
R5309:Abca15 UTSW 7 119,944,592 (GRCm39) missense probably damaging 0.96
R5310:Abca15 UTSW 7 119,931,839 (GRCm39) missense possibly damaging 0.46
R5312:Abca15 UTSW 7 119,944,592 (GRCm39) missense probably damaging 0.96
R5482:Abca15 UTSW 7 119,968,370 (GRCm39) missense probably damaging 1.00
R5596:Abca15 UTSW 7 120,000,972 (GRCm39) missense possibly damaging 0.94
R5853:Abca15 UTSW 7 119,939,806 (GRCm39) missense probably benign 0.00
R5950:Abca15 UTSW 7 119,981,879 (GRCm39) missense probably damaging 1.00
R5953:Abca15 UTSW 7 119,960,241 (GRCm39) missense probably damaging 1.00
R6072:Abca15 UTSW 7 119,987,481 (GRCm39) missense probably damaging 0.98
R6131:Abca15 UTSW 7 119,939,428 (GRCm39) missense probably benign 0.03
R6132:Abca15 UTSW 7 119,960,643 (GRCm39) missense probably benign 0.14
R6136:Abca15 UTSW 7 119,939,272 (GRCm39) missense possibly damaging 0.81
R6207:Abca15 UTSW 7 119,973,017 (GRCm39) missense probably benign 0.01
R6315:Abca15 UTSW 7 119,945,315 (GRCm39) missense probably damaging 1.00
R6417:Abca15 UTSW 7 119,996,351 (GRCm39) missense possibly damaging 0.95
R6420:Abca15 UTSW 7 119,996,351 (GRCm39) missense possibly damaging 0.95
R6595:Abca15 UTSW 7 119,993,710 (GRCm39) missense probably benign 0.00
R6653:Abca15 UTSW 7 119,945,229 (GRCm39) missense probably benign 0.03
R6859:Abca15 UTSW 7 120,002,217 (GRCm39) nonsense probably null
R6983:Abca15 UTSW 7 119,953,686 (GRCm39) missense probably benign 0.26
R7127:Abca15 UTSW 7 119,931,825 (GRCm39) missense probably benign 0.06
R7205:Abca15 UTSW 7 119,993,587 (GRCm39) missense possibly damaging 0.89
R7336:Abca15 UTSW 7 119,987,456 (GRCm39) missense possibly damaging 0.66
R7426:Abca15 UTSW 7 119,945,221 (GRCm39) missense possibly damaging 0.88
R7745:Abca15 UTSW 7 119,931,440 (GRCm39) missense probably damaging 1.00
R7751:Abca15 UTSW 7 119,965,044 (GRCm39) missense possibly damaging 0.72
R7806:Abca15 UTSW 7 119,932,059 (GRCm39) missense probably damaging 0.96
R8042:Abca15 UTSW 7 120,002,233 (GRCm39) missense possibly damaging 0.95
R8098:Abca15 UTSW 7 119,960,619 (GRCm39) missense probably benign 0.09
R8153:Abca15 UTSW 7 119,999,812 (GRCm39) missense probably damaging 1.00
R8247:Abca15 UTSW 7 119,936,445 (GRCm39) missense possibly damaging 0.83
R8259:Abca15 UTSW 7 119,939,422 (GRCm39) missense probably benign 0.00
R8272:Abca15 UTSW 7 120,006,665 (GRCm39) missense probably damaging 1.00
R8295:Abca15 UTSW 7 119,974,188 (GRCm39) missense probably benign 0.00
R8757:Abca15 UTSW 7 120,006,631 (GRCm39) missense probably damaging 0.96
R8759:Abca15 UTSW 7 120,006,631 (GRCm39) missense probably damaging 0.96
R8905:Abca15 UTSW 7 119,960,771 (GRCm39) missense probably benign 0.28
R9145:Abca15 UTSW 7 119,987,388 (GRCm39) missense probably benign 0.13
R9217:Abca15 UTSW 7 119,987,439 (GRCm39) missense probably benign
R9264:Abca15 UTSW 7 120,001,056 (GRCm39) missense probably benign 0.14
R9517:Abca15 UTSW 7 119,987,424 (GRCm39) missense probably benign 0.07
RF018:Abca15 UTSW 7 119,993,683 (GRCm39) missense possibly damaging 0.50
Z1176:Abca15 UTSW 7 119,981,728 (GRCm39) missense probably damaging 0.99
Z1176:Abca15 UTSW 7 119,945,249 (GRCm39) missense probably benign 0.22
Posted On 2012-12-06