Incidental Mutation 'R0848:Abca8a'
ID 77444
Institutional Source Beutler Lab
Gene Symbol Abca8a
Ensembl Gene ENSMUSG00000041828
Gene Name ATP-binding cassette, sub-family A member 8a
Synonyms
MMRRC Submission 039027-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R0848 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 109916460-109986804 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109919016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1550 (Y1550F)
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: Y1549F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: Y1549F

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: Y1550F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: Y1550F

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: Y1550F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: Y1550F

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,114,984 (GRCm39) H181Q probably damaging Het
Abca13 T A 11: 9,632,011 (GRCm39) L4977* probably null Het
Actr2 C T 11: 20,022,584 (GRCm39) E296K probably benign Het
Agtpbp1 A T 13: 59,681,753 (GRCm39) probably benign Het
Anks1b A C 10: 89,906,987 (GRCm39) E268A probably damaging Het
C1rl A G 6: 124,485,465 (GRCm39) T279A probably benign Het
C5ar2 T C 7: 15,971,526 (GRCm39) T134A probably benign Het
Cdkl3 G A 11: 51,902,094 (GRCm39) R101Q probably damaging Het
Celsr2 A T 3: 108,321,654 (GRCm39) F386Y probably benign Het
Chd1 C T 17: 15,990,503 (GRCm39) P1685L probably damaging Het
Chrne G T 11: 70,506,239 (GRCm39) H402Q probably benign Het
Clvs1 A G 4: 9,282,003 (GRCm39) D149G possibly damaging Het
Cntnap5b T C 1: 100,182,888 (GRCm39) Y620H probably benign Het
Col6a1 A G 10: 76,549,458 (GRCm39) probably null Het
Cyp2d26 T A 15: 82,674,434 (GRCm39) I483F probably benign Het
Dlx6 C T 6: 6,863,665 (GRCm39) Q96* probably null Het
Dmac2l A T 12: 69,788,584 (GRCm39) H161L probably benign Het
Eif1a T A 18: 46,741,114 (GRCm39) N116K possibly damaging Het
Epb41l5 A T 1: 119,477,684 (GRCm39) C696S probably benign Het
Exoc7 A G 11: 116,186,074 (GRCm39) S376P possibly damaging Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gimap7 T C 6: 48,700,657 (GRCm39) I81T probably damaging Het
Gtf2a1l T C 17: 89,001,657 (GRCm39) V171A probably damaging Het
Hax1 A G 3: 89,902,940 (GRCm39) S253P probably damaging Het
Hsd3b5 A T 3: 98,526,671 (GRCm39) D258E probably damaging Het
Kcnb1 G T 2: 166,948,187 (GRCm39) F220L probably damaging Het
Kif1a T A 1: 92,947,620 (GRCm39) Y1708F probably damaging Het
Krt14 A T 11: 100,095,090 (GRCm39) I379N probably damaging Het
Lpxn A G 19: 12,781,401 (GRCm39) I40V probably benign Het
Lrp1 C T 10: 127,389,231 (GRCm39) probably null Het
Lyst G A 13: 13,809,515 (GRCm39) R395H probably benign Het
Mindy4 G A 6: 55,295,271 (GRCm39) W737* probably null Het
Mki67 C A 7: 135,302,772 (GRCm39) R754L probably benign Het
Morf4l1 A G 9: 89,982,502 (GRCm39) V144A probably benign Het
Mvb12a T C 8: 71,998,422 (GRCm39) S186P probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Nipal1 A G 5: 72,825,183 (GRCm39) N292S probably damaging Het
Nqo2 T G 13: 34,156,461 (GRCm39) probably null Het
Or14a256 T C 7: 86,264,848 (GRCm39) Y335C probably damaging Het
Or2d3b A G 7: 106,514,200 (GRCm39) K265R probably benign Het
Or5ak24 A T 2: 85,260,365 (GRCm39) N269K probably benign Het
Or6c214 C T 10: 129,591,077 (GRCm39) V81I probably benign Het
Osbpl7 C A 11: 96,951,350 (GRCm39) P507Q probably damaging Het
Pcdhb1 G A 18: 37,400,475 (GRCm39) G809S probably benign Het
Pcm1 T C 8: 41,735,720 (GRCm39) V846A probably damaging Het
Phf3 A G 1: 30,902,253 (GRCm39) L20P probably damaging Het
Pih1d1 A G 7: 44,807,041 (GRCm39) T58A probably damaging Het
Plekhn1 A G 4: 156,308,021 (GRCm39) probably null Het
Plvap A T 8: 71,959,526 (GRCm39) L422Q probably damaging Het
Polq C T 16: 36,882,492 (GRCm39) A1273V probably benign Het
Prelid2 T A 18: 42,068,289 (GRCm39) I51F probably damaging Het
Ptpn18 G A 1: 34,501,783 (GRCm39) D8N probably damaging Het
Ptpra T A 2: 130,360,911 (GRCm39) F190Y probably damaging Het
Pus7l A G 15: 94,438,393 (GRCm39) S151P probably benign Het
Rsph6a G A 7: 18,791,595 (GRCm39) D255N probably benign Het
Serpinb6c A T 13: 34,083,288 (GRCm39) V42D probably damaging Het
Slc7a13 A G 4: 19,818,866 (GRCm39) N22S probably benign Het
Snx5 G A 2: 144,095,726 (GRCm39) R312C probably damaging Het
Stard9 T C 2: 120,526,304 (GRCm39) S854P probably damaging Het
Syne2 AAGAG AAGAGAGAG 12: 76,144,733 (GRCm39) probably null Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tlr12 A G 4: 128,510,084 (GRCm39) I722T probably benign Het
Tmem101 A T 11: 102,046,692 (GRCm39) M59K possibly damaging Het
Trim34a C T 7: 103,910,331 (GRCm39) R378C probably benign Het
Trim35 T A 14: 66,546,574 (GRCm39) M447K probably benign Het
Trps1 C A 15: 50,524,945 (GRCm39) S704I possibly damaging Het
Vmn1r231 T A 17: 21,110,433 (GRCm39) S161C probably damaging Het
Vps13a A C 19: 16,676,261 (GRCm39) N1237K probably damaging Het
Zfp619 G T 7: 39,185,983 (GRCm39) C671F probably damaging 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
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
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'- GTGCCGATTCAATTTCTCACCGCTG -3'
(R):5'- GTGCCTAAATGTGGACTCTGCACTG -3'

Sequencing Primer
(F):5'- ATTTCTCACCGCTGTGGGC -3'
(R):5'- TAAAAGGAGCCTGTGTTCCC -3'
Posted On 2013-10-16