Incidental Mutation 'R6189:Abca8a'
ID 502407
Institutional Source Beutler Lab
Gene Symbol Abca8a
Ensembl Gene ENSMUSG00000041828
Gene Name ATP-binding cassette, sub-family A member 8a
Synonyms
MMRRC Submission 044329-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6189 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 109916460-109986804 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109921710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1448 (D1448G)
Ref Sequence ENSEMBL: ENSMUSP00000102275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046223] [ENSMUST00000100287] [ENSMUST00000106664]
AlphaFold Q8K442
Predicted Effect probably damaging
Transcript: ENSMUST00000046223
AA Change: D1447G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: D1447G

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 27 416 8e-26 PFAM
AAA 505 689 6.27e-9 SMART
Pfam:ABC2_membrane_3 860 1174 6.8e-15 PFAM
transmembrane domain 1196 1218 N/A INTRINSIC
low complexity region 1246 1255 N/A INTRINSIC
low complexity region 1288 1301 N/A INTRINSIC
AAA 1313 1493 4.3e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100287
AA Change: D1448G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: D1448G

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 27 416 3.9e-26 PFAM
AAA 506 690 6.27e-9 SMART
Pfam:ABC2_membrane_3 861 1175 3.3e-15 PFAM
transmembrane domain 1197 1219 N/A INTRINSIC
low complexity region 1247 1256 N/A INTRINSIC
low complexity region 1289 1302 N/A INTRINSIC
AAA 1314 1494 4.3e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106664
AA Change: D1448G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: D1448G

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 28 416 1.7e-23 PFAM
AAA 506 690 6.27e-9 SMART
Pfam:ABC2_membrane_3 861 1214 1.3e-12 PFAM
low complexity region 1247 1256 N/A INTRINSIC
low complexity region 1289 1302 N/A INTRINSIC
AAA 1314 1494 4.3e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141279
Meta Mutation Damage Score 0.8331 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (74/76)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,474,222 (GRCm39) probably benign Het
Actn2 C T 13: 12,291,326 (GRCm39) D693N probably damaging Het
Adam3 A C 8: 25,201,352 (GRCm39) I267R probably benign Het
Aldh1l2 A G 10: 83,343,877 (GRCm39) probably null Het
C4bp T C 1: 130,564,556 (GRCm39) Y376C probably damaging Het
Cacna1h A G 17: 25,616,818 (GRCm39) W101R probably damaging Het
Ccdc97 T A 7: 25,415,523 (GRCm39) T47S probably benign Het
Cenatac G A 9: 44,321,618 (GRCm39) R328C probably benign Het
Cnot6l G A 5: 96,246,136 (GRCm39) T171I probably benign Het
Cntnap2 T A 6: 47,248,232 (GRCm39) S1213T probably damaging Het
Cxcl10 A T 5: 92,495,972 (GRCm39) L55Q probably benign Het
Cyp1a1 T C 9: 57,607,966 (GRCm39) V198A probably damaging Het
Dclre1b A G 3: 103,710,849 (GRCm39) V354A probably damaging Het
Dmxl1 C T 18: 50,026,402 (GRCm39) H1837Y probably benign Het
Dnajc13 G C 9: 104,091,085 (GRCm39) D665E probably benign Het
Dnmbp T C 19: 43,878,748 (GRCm39) T108A probably benign Het
Dnmbp T A 19: 43,889,950 (GRCm39) T606S probably benign Het
Dok5 T A 2: 170,642,771 (GRCm39) I23N probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epha5 A T 5: 84,385,399 (GRCm39) F311I probably damaging Het
Erbb4 T A 1: 68,083,075 (GRCm39) M1059L probably benign Het
Fbxo40 A G 16: 36,786,526 (GRCm39) I681T probably benign Het
Flg2 T A 3: 93,127,381 (GRCm39) C2098S unknown Het
Gpr87 T A 3: 59,086,650 (GRCm39) D285V probably damaging Het
Hrh1 T A 6: 114,456,959 (GRCm39) V80D probably damaging Het
Hunk G A 16: 90,284,769 (GRCm39) R351K probably benign Het
Ifna12 A G 4: 88,521,248 (GRCm39) W100R probably damaging Het
Ift57 G A 16: 49,584,176 (GRCm39) G310S probably damaging Het
Igf1r T A 7: 67,857,084 (GRCm39) Y1015* probably null Het
Igkv14-130 T C 6: 67,768,432 (GRCm39) I96T probably damaging Het
Il34 C T 8: 111,469,350 (GRCm39) S155N probably benign Het
Itga7 T C 10: 128,786,272 (GRCm39) S938P possibly damaging Het
Itgam A G 7: 127,711,676 (GRCm39) M764V probably benign Het
Lao1 T A 4: 118,825,077 (GRCm39) M299K probably benign Het
Lnpep A T 17: 17,787,001 (GRCm39) S533T possibly damaging Het
Lrp4 T C 2: 91,305,579 (GRCm39) V283A possibly damaging Het
Magi3 G T 3: 103,958,181 (GRCm39) H635N probably damaging Het
Mecr A T 4: 131,592,565 (GRCm39) probably null Het
Mgrn1 T C 16: 4,728,674 (GRCm39) probably null Het
Mical2 A C 7: 112,012,087 (GRCm39) N646H probably damaging Het
Mymk C T 2: 26,957,377 (GRCm39) V39I possibly damaging Het
Nav3 T C 10: 109,555,880 (GRCm39) S1684G probably damaging Het
Ntn5 A T 7: 45,342,644 (GRCm39) D330V probably benign Het
Nup42 G T 5: 24,380,452 (GRCm39) G149V probably damaging Het
Nutm2 T A 13: 50,623,774 (GRCm39) V157D possibly damaging Het
Obscn T C 11: 58,960,760 (GRCm39) I3460V probably benign Het
Or8u10 A T 2: 85,915,257 (GRCm39) M288K possibly damaging Het
Pakap A G 4: 57,855,928 (GRCm39) E419G probably benign Het
Pcdh15 C T 10: 74,178,483 (GRCm39) A580V probably null Het
Pcdhb10 T A 18: 37,545,456 (GRCm39) H177Q probably damaging Het
Pitx2 T C 3: 129,012,118 (GRCm39) Y130H probably damaging Het
Pmch G T 10: 87,927,248 (GRCm39) probably null Het
Pofut2 T A 10: 77,104,420 (GRCm39) I399N probably damaging Het
Prr36 C A 8: 4,264,177 (GRCm39) probably benign Het
Ptprq C A 10: 107,353,748 (GRCm39) C2256F probably damaging Het
Rassf5 G A 1: 131,172,716 (GRCm39) A51V probably damaging Het
Retnla A G 16: 48,663,258 (GRCm39) I54V probably benign Het
Rimbp2 A G 5: 128,880,961 (GRCm39) L142P probably benign Het
Ripk1 A G 13: 34,216,484 (GRCm39) T564A probably benign Het
Robo4 G A 9: 37,314,829 (GRCm39) E228K probably benign Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Homo
Rusc1 A T 3: 88,996,319 (GRCm39) L132Q probably damaging Het
Serpinb9h A T 13: 33,588,427 (GRCm39) E337D probably benign Het
Setd1a T C 7: 127,377,455 (GRCm39) probably null Het
Slc38a6 A T 12: 73,356,970 (GRCm39) K122M probably damaging Het
Speer4a2 A G 5: 26,290,691 (GRCm39) I160T probably benign Het
Susd5 A T 9: 113,924,726 (GRCm39) D203V probably damaging Het
Trip4 G A 9: 65,786,434 (GRCm39) R110* probably null Het
Tuba4a T A 1: 75,193,518 (GRCm39) I95F probably benign Het
Ube2q2 T A 9: 55,070,267 (GRCm39) S70T probably benign Het
Umodl1 A G 17: 31,215,256 (GRCm39) I1027V possibly damaging Het
Unc80 G A 1: 66,716,630 (GRCm39) V2917I probably benign Het
Vmn1r70 T A 7: 10,367,598 (GRCm39) C29S probably benign Het
Vmn2r94 A T 17: 18,477,996 (GRCm39) D138E probably benign Het
Wee2 C T 6: 40,426,617 (GRCm39) H129Y probably damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,723,440 (GRCm39) probably benign Het
Zfp872 A T 9: 22,108,427 (GRCm39) D42V probably benign Het
Zic5 T G 14: 122,702,386 (GRCm39) D115A unknown Het
Other mutations in Abca8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Abca8a APN 11 109,941,765 (GRCm39) missense possibly damaging 0.52
IGL01099:Abca8a APN 11 109,965,031 (GRCm39) splice site probably benign
IGL01100:Abca8a APN 11 109,949,249 (GRCm39) critical splice donor site probably null
IGL01310:Abca8a APN 11 109,950,801 (GRCm39) missense probably benign 0.02
IGL01357:Abca8a APN 11 109,922,398 (GRCm39) missense probably benign 0.05
IGL01554:Abca8a APN 11 109,932,992 (GRCm39) missense probably benign 0.24
IGL01937:Abca8a APN 11 109,974,130 (GRCm39) splice site probably benign
IGL01945:Abca8a APN 11 109,974,130 (GRCm39) splice site probably benign
IGL01987:Abca8a APN 11 109,964,981 (GRCm39) missense possibly damaging 0.63
IGL02023:Abca8a APN 11 109,953,942 (GRCm39) missense probably benign 0.04
IGL02208:Abca8a APN 11 109,950,772 (GRCm39) missense probably damaging 1.00
IGL02378:Abca8a APN 11 109,969,641 (GRCm39) unclassified probably benign
IGL02380:Abca8a APN 11 109,969,641 (GRCm39) unclassified probably benign
IGL02387:Abca8a APN 11 109,969,641 (GRCm39) unclassified probably benign
IGL02388:Abca8a APN 11 109,969,641 (GRCm39) unclassified probably benign
IGL02524:Abca8a APN 11 109,969,641 (GRCm39) unclassified probably benign
IGL02551:Abca8a APN 11 109,975,068 (GRCm39) missense probably benign 0.05
IGL02831:Abca8a APN 11 109,943,907 (GRCm39) missense probably damaging 1.00
IGL02836:Abca8a APN 11 109,961,177 (GRCm39) missense possibly damaging 0.89
IGL02934:Abca8a APN 11 109,931,414 (GRCm39) missense probably damaging 1.00
IGL02946:Abca8a APN 11 109,919,041 (GRCm39) splice site probably benign
IGL02967:Abca8a APN 11 109,941,762 (GRCm39) missense probably damaging 1.00
IGL02997:Abca8a APN 11 109,966,359 (GRCm39) splice site probably benign
IGL03265:Abca8a APN 11 109,943,929 (GRCm39) missense probably benign 0.01
G5030:Abca8a UTSW 11 109,961,165 (GRCm39) missense probably damaging 1.00
H8562:Abca8a UTSW 11 109,933,835 (GRCm39) missense probably benign
PIT4445001:Abca8a UTSW 11 109,966,377 (GRCm39) missense probably damaging 0.99
R0060:Abca8a UTSW 11 109,961,306 (GRCm39) missense probably damaging 1.00
R0060:Abca8a UTSW 11 109,961,306 (GRCm39) missense probably damaging 1.00
R0084:Abca8a UTSW 11 109,927,423 (GRCm39) splice site probably benign
R0394:Abca8a UTSW 11 109,917,169 (GRCm39) missense probably damaging 0.99
R0477:Abca8a UTSW 11 109,956,051 (GRCm39) missense probably benign
R0593:Abca8a UTSW 11 109,958,925 (GRCm39) missense probably damaging 1.00
R0744:Abca8a UTSW 11 109,931,390 (GRCm39) missense possibly damaging 0.91
R0764:Abca8a UTSW 11 109,950,772 (GRCm39) missense probably damaging 1.00
R0787:Abca8a UTSW 11 109,933,814 (GRCm39) missense possibly damaging 0.60
R0836:Abca8a UTSW 11 109,931,390 (GRCm39) missense possibly damaging 0.91
R0848:Abca8a UTSW 11 109,919,016 (GRCm39) missense probably damaging 1.00
R0894:Abca8a UTSW 11 109,941,792 (GRCm39) missense probably benign 0.00
R1163:Abca8a UTSW 11 109,962,356 (GRCm39) missense probably benign 0.01
R1224:Abca8a UTSW 11 109,931,408 (GRCm39) missense probably damaging 1.00
R1474:Abca8a UTSW 11 109,960,635 (GRCm39) missense probably damaging 1.00
R1596:Abca8a UTSW 11 109,958,886 (GRCm39) missense possibly damaging 0.89
R1708:Abca8a UTSW 11 109,943,928 (GRCm39) missense probably damaging 1.00
R1715:Abca8a UTSW 11 109,982,406 (GRCm39) missense probably damaging 0.98
R1795:Abca8a UTSW 11 109,941,792 (GRCm39) missense probably benign 0.00
R1832:Abca8a UTSW 11 109,962,277 (GRCm39) missense probably damaging 0.99
R1852:Abca8a UTSW 11 109,960,212 (GRCm39) missense probably damaging 1.00
R1887:Abca8a UTSW 11 109,980,768 (GRCm39) missense probably damaging 1.00
R1891:Abca8a UTSW 11 109,982,433 (GRCm39) missense probably benign 0.20
R1917:Abca8a UTSW 11 109,982,341 (GRCm39) splice site probably benign
R1943:Abca8a UTSW 11 109,960,689 (GRCm39) missense probably benign 0.00
R1962:Abca8a UTSW 11 109,917,731 (GRCm39) critical splice acceptor site probably null
R2016:Abca8a UTSW 11 109,961,213 (GRCm39) missense probably damaging 0.99
R2037:Abca8a UTSW 11 109,980,810 (GRCm39) splice site probably null
R2098:Abca8a UTSW 11 109,927,405 (GRCm39) missense probably damaging 1.00
R2102:Abca8a UTSW 11 109,958,878 (GRCm39) missense probably damaging 1.00
R2134:Abca8a UTSW 11 109,921,743 (GRCm39) missense probably null 1.00
R2220:Abca8a UTSW 11 109,917,681 (GRCm39) missense probably damaging 1.00
R2269:Abca8a UTSW 11 109,917,718 (GRCm39) missense probably damaging 1.00
R2395:Abca8a UTSW 11 109,959,614 (GRCm39) missense probably damaging 1.00
R2847:Abca8a UTSW 11 109,932,931 (GRCm39) missense probably damaging 1.00
R2849:Abca8a UTSW 11 109,932,931 (GRCm39) missense probably damaging 1.00
R3508:Abca8a UTSW 11 109,953,991 (GRCm39) missense probably benign
R3974:Abca8a UTSW 11 109,974,328 (GRCm39) missense probably damaging 1.00
R4009:Abca8a UTSW 11 109,980,933 (GRCm39) missense probably damaging 0.98
R4163:Abca8a UTSW 11 109,941,808 (GRCm39) missense probably benign 0.00
R4274:Abca8a UTSW 11 109,980,930 (GRCm39) missense probably damaging 0.96
R4507:Abca8a UTSW 11 109,953,851 (GRCm39) missense probably benign 0.19
R4571:Abca8a UTSW 11 109,920,884 (GRCm39) missense probably damaging 1.00
R4672:Abca8a UTSW 11 109,962,702 (GRCm39) missense possibly damaging 0.94
R4700:Abca8a UTSW 11 109,961,308 (GRCm39) missense probably damaging 1.00
R4770:Abca8a UTSW 11 109,962,341 (GRCm39) missense possibly damaging 0.82
R4946:Abca8a UTSW 11 109,977,300 (GRCm39) missense probably damaging 1.00
R4955:Abca8a UTSW 11 109,927,338 (GRCm39) missense probably benign 0.00
R5186:Abca8a UTSW 11 109,982,425 (GRCm39) missense probably null 0.31
R5190:Abca8a UTSW 11 109,980,735 (GRCm39) critical splice donor site probably null
R5597:Abca8a UTSW 11 109,927,363 (GRCm39) missense probably damaging 1.00
R5677:Abca8a UTSW 11 109,929,225 (GRCm39) missense possibly damaging 0.51
R5757:Abca8a UTSW 11 109,933,794 (GRCm39) missense probably benign 0.28
R5822:Abca8a UTSW 11 109,921,705 (GRCm39) missense probably damaging 0.98
R5925:Abca8a UTSW 11 109,948,049 (GRCm39) missense probably damaging 1.00
R6090:Abca8a UTSW 11 109,954,048 (GRCm39) critical splice acceptor site probably null
R6122:Abca8a UTSW 11 109,961,249 (GRCm39) missense probably benign 0.40
R6200:Abca8a UTSW 11 109,980,876 (GRCm39) missense probably damaging 0.98
R6374:Abca8a UTSW 11 109,974,216 (GRCm39) nonsense probably null
R7022:Abca8a UTSW 11 109,974,326 (GRCm39) missense probably damaging 1.00
R7161:Abca8a UTSW 11 109,964,968 (GRCm39) missense probably benign 0.09
R7198:Abca8a UTSW 11 109,969,481 (GRCm39) missense probably damaging 1.00
R7220:Abca8a UTSW 11 109,980,793 (GRCm39) missense probably benign 0.00
R7290:Abca8a UTSW 11 109,921,714 (GRCm39) missense probably benign 0.03
R7381:Abca8a UTSW 11 109,920,913 (GRCm39) splice site probably null
R7437:Abca8a UTSW 11 109,941,790 (GRCm39) missense probably benign
R7733:Abca8a UTSW 11 109,945,413 (GRCm39) missense probably benign 0.02
R7785:Abca8a UTSW 11 109,965,032 (GRCm39) splice site probably null
R7917:Abca8a UTSW 11 109,958,933 (GRCm39) missense probably damaging 1.00
R7948:Abca8a UTSW 11 109,941,805 (GRCm39) missense probably benign
R7957:Abca8a UTSW 11 109,982,439 (GRCm39) start codon destroyed probably null 1.00
R7958:Abca8a UTSW 11 109,922,498 (GRCm39) missense probably damaging 1.00
R7981:Abca8a UTSW 11 109,980,739 (GRCm39) missense probably benign 0.00
R8033:Abca8a UTSW 11 109,927,348 (GRCm39) missense probably damaging 1.00
R8069:Abca8a UTSW 11 109,980,876 (GRCm39) missense probably damaging 0.98
R8116:Abca8a UTSW 11 109,982,420 (GRCm39) missense probably benign 0.27
R8289:Abca8a UTSW 11 109,927,515 (GRCm39) intron probably benign
R8334:Abca8a UTSW 11 109,959,650 (GRCm39) missense probably damaging 1.00
R8371:Abca8a UTSW 11 109,945,473 (GRCm39) missense probably benign 0.31
R8406:Abca8a UTSW 11 109,977,343 (GRCm39) missense probably damaging 1.00
R8438:Abca8a UTSW 11 109,966,404 (GRCm39) missense probably damaging 1.00
R8670:Abca8a UTSW 11 109,966,424 (GRCm39) missense probably damaging 1.00
R8807:Abca8a UTSW 11 109,974,252 (GRCm39) missense probably benign 0.35
R8821:Abca8a UTSW 11 109,949,362 (GRCm39) missense probably damaging 0.98
R8838:Abca8a UTSW 11 109,920,881 (GRCm39) missense probably damaging 1.00
R8884:Abca8a UTSW 11 109,964,941 (GRCm39) missense possibly damaging 0.60
R8885:Abca8a UTSW 11 109,960,305 (GRCm39) missense probably damaging 1.00
R8962:Abca8a UTSW 11 109,969,634 (GRCm39) missense probably damaging 1.00
R8966:Abca8a UTSW 11 109,962,245 (GRCm39) critical splice donor site probably null
R9272:Abca8a UTSW 11 109,953,908 (GRCm39) missense probably damaging 0.99
R9331:Abca8a UTSW 11 109,917,154 (GRCm39) missense probably damaging 1.00
R9397:Abca8a UTSW 11 109,921,173 (GRCm39) missense probably damaging 1.00
R9498:Abca8a UTSW 11 109,977,374 (GRCm39) missense probably damaging 0.99
R9529:Abca8a UTSW 11 109,947,167 (GRCm39) nonsense probably null
R9564:Abca8a UTSW 11 109,965,010 (GRCm39) missense probably benign 0.04
X0022:Abca8a UTSW 11 109,921,923 (GRCm39) missense probably damaging 1.00
X0024:Abca8a UTSW 11 109,974,161 (GRCm39) missense probably damaging 1.00
X0053:Abca8a UTSW 11 109,974,310 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GAAGTTGATTGTAAACCACCAGG -3'
(R):5'- CTCTTCAGGTTGGCAGATGC -3'

Sequencing Primer
(F):5'- GGAAACATAAGTACGTTTTCTCCC -3'
(R):5'- CAGCTGAAGTCTCCTGTGAAGAC -3'
Posted On 2018-02-27