Incidental Mutation 'R2037:Abca8a'
ID 224814
Institutional Source Beutler Lab
Gene Symbol Abca8a
Ensembl Gene ENSMUSG00000041828
Gene Name ATP-binding cassette, sub-family A member 8a
Synonyms
MMRRC Submission 040044-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R2037 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 109916460-109986804 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 109980810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046223] [ENSMUST00000100287] [ENSMUST00000106662] [ENSMUST00000106664]
AlphaFold Q8K442
Predicted Effect probably benign
Transcript: ENSMUST00000046223
AA Change: M76K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: M76K

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 benign
Transcript: ENSMUST00000100287
AA Change: M76K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: M76K

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 null
Transcript: ENSMUST00000106662
SMART Domains Protein: ENSMUSP00000102273
Gene: ENSMUSG00000041828

DomainStartEndE-ValueType
low complexity region 15 33 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106664
AA Change: M76K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: M76K

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI987944 T C 7: 41,023,815 (GRCm39) Y391C probably benign Het
Ankfn1 A T 11: 89,346,946 (GRCm39) S296T probably benign Het
Apob A G 12: 8,057,488 (GRCm39) D1957G probably benign Het
Baz1a G T 12: 54,976,431 (GRCm39) P415Q probably damaging Het
Brca2 T A 5: 150,464,134 (GRCm39) H1299Q probably benign Het
C7 G T 15: 5,063,720 (GRCm39) S227* probably null Het
Catsperb A T 12: 101,474,221 (GRCm39) R306S probably damaging Het
Cbx3 T A 6: 51,448,793 (GRCm39) probably null Het
Ccnt2 A G 1: 127,731,136 (GRCm39) Y671C probably damaging Het
Crocc A G 4: 140,774,253 (GRCm39) probably null Het
Ctr9 G A 7: 110,646,014 (GRCm39) V669I probably benign Het
Dck T G 5: 88,920,576 (GRCm39) Y99D probably damaging Het
Ddx52 T A 11: 83,835,432 (GRCm39) D119E probably benign Het
Dnah10 A T 5: 124,823,768 (GRCm39) K596N probably benign Het
Dnah7a A T 1: 53,621,741 (GRCm39) V1128E probably benign Het
Dph1 A T 11: 75,076,679 (GRCm39) probably null Het
Enah G A 1: 181,749,537 (GRCm39) P415L probably damaging Het
Enthd1 A G 15: 80,444,550 (GRCm39) S2P possibly damaging Het
Erc1 A C 6: 119,699,216 (GRCm39) V802G possibly damaging Het
F8 ATCTCTCTC ATCTCTC X: 74,366,604 (GRCm39) probably null Het
Fam169a C A 13: 97,243,600 (GRCm39) A210E probably benign Het
Fcmr A G 1: 130,806,070 (GRCm39) D342G possibly damaging Het
Fgfr4 T G 13: 55,315,702 (GRCm39) V743G possibly damaging Het
Fsip2 A G 2: 82,808,856 (GRCm39) D1725G probably damaging Het
Heatr5b A T 17: 79,136,934 (GRCm39) C195* probably null Het
Herc2 G A 7: 55,855,709 (GRCm39) A3882T probably damaging Het
Il20 T A 1: 130,836,115 (GRCm39) N143Y probably damaging Het
Inpp5b A G 4: 124,692,092 (GRCm39) S892G probably damaging Het
Ipo13 A T 4: 117,761,858 (GRCm39) Y447* probably null Het
Itprid1 A G 6: 55,874,860 (GRCm39) N270S probably benign Het
Kbtbd12 A T 6: 88,594,779 (GRCm39) N350K probably benign Het
Kiz T C 2: 146,811,880 (GRCm39) F663S probably damaging Het
Matn2 A G 15: 34,433,263 (GRCm39) D870G probably benign Het
Methig1 C T 15: 100,251,467 (GRCm39) A126V probably benign Het
Mme A G 3: 63,235,681 (GRCm39) D209G probably null Het
Mroh4 A G 15: 74,481,610 (GRCm39) F811L possibly damaging Het
Myo9b G T 8: 71,743,510 (GRCm39) K190N probably damaging Het
Ncf1 T C 5: 134,258,406 (GRCm39) I6V probably damaging Het
Nmt2 T C 2: 3,310,618 (GRCm39) F121L probably damaging Het
Nol10 A G 12: 17,411,152 (GRCm39) D183G probably benign Het
Nsun7 T C 5: 66,418,429 (GRCm39) V53A probably benign Het
Or10u4 T C 10: 129,802,009 (GRCm39) I187V probably benign Het
Or8j3 T C 2: 86,028,176 (GRCm39) S307G probably benign Het
Or8k22 T C 2: 86,162,774 (GRCm39) N309D probably benign Het
Pappa2 A T 1: 158,784,214 (GRCm39) Y265* probably null Het
Pigg G A 5: 108,486,518 (GRCm39) A724T probably damaging Het
Pik3r4 C T 9: 105,527,534 (GRCm39) R296C probably benign Het
Pkhd1l1 A G 15: 44,431,617 (GRCm39) probably null Het
Pld4 A G 12: 112,734,992 (GRCm39) D483G probably damaging Het
Ppip5k1 C T 2: 121,173,674 (GRCm39) R399H probably damaging Het
Qrfpr A T 3: 36,236,806 (GRCm39) H198Q probably damaging Het
Rasgrf2 A T 13: 92,050,748 (GRCm39) D883E probably damaging Het
Retnlg T C 16: 48,694,615 (GRCm39) C88R probably damaging Het
Sin3a C T 9: 57,004,109 (GRCm39) T287I probably benign Het
Slc44a1 GCC GCCCCC 4: 53,563,243 (GRCm39) probably benign Het
Sppl2c G C 11: 104,077,307 (GRCm39) V36L probably benign Het
Srp72 T A 5: 77,124,338 (GRCm39) I68N probably damaging Het
Srrm3 T A 5: 135,883,231 (GRCm39) S195R probably damaging Het
Srrm4 T A 5: 116,605,887 (GRCm39) probably benign Het
Ssb A G 2: 69,699,163 (GRCm39) S199G probably benign Het
Sult2a6 T A 7: 13,988,634 (GRCm39) Y42F probably damaging Het
Syne2 A G 12: 76,072,343 (GRCm39) T120A probably benign Het
Tas1r1 A G 4: 152,112,627 (GRCm39) F809L probably damaging Het
Tead3 A G 17: 28,555,544 (GRCm39) S117P probably damaging Het
Tefm C T 11: 80,031,056 (GRCm39) R60H probably damaging Het
Tmem104 G A 11: 115,092,221 (GRCm39) R110H possibly damaging Het
Tnxb G A 17: 34,918,179 (GRCm39) G2364D probably damaging Het
Vmn1r211 T A 13: 23,036,134 (GRCm39) I178F probably damaging Het
Vmn1r6 A T 6: 56,980,109 (GRCm39) Y235F probably damaging Het
Xrcc5 C A 1: 72,385,529 (GRCm39) T540K probably benign 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
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
R6189:Abca8a UTSW 11 109,921,710 (GRCm39) missense probably damaging 1.00
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'- ACACCTGAATGCTAATGTACATGG -3'
(R):5'- GGGAATGCTTACCTTTTGTAGACG -3'

Sequencing Primer
(F):5'- CACACACACACAGAGAGAGAGAG -3'
(R):5'- ACCTTTTGTAGACGGAGAAATTTG -3'
Posted On 2014-08-25