Incidental Mutation 'R3974:Abca8a'
ID 312544
Institutional Source Beutler Lab
Gene Symbol Abca8a
Ensembl Gene ENSMUSG00000041828
Gene Name ATP-binding cassette, sub-family A member 8a
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R3974 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 109916460-109986804 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109974328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 202 (M202K)
Ref Sequence ENSEMBL: ENSMUSP00000102275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046223] [ENSMUST00000100287] [ENSMUST00000106662] [ENSMUST00000106664]
AlphaFold Q8K442
Predicted Effect probably benign
Transcript: ENSMUST00000046223
AA Change: M202K

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: M202K

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: M202K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: M202K

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

DomainStartEndE-ValueType
low complexity region 15 33 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106664
AA Change: M202K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: M202K

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: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,029,488 (GRCm39) I486T probably damaging Het
Abhd4 T A 14: 54,500,417 (GRCm39) I117N probably damaging Het
Adam23 T A 1: 63,586,888 (GRCm39) Y416* probably null Het
Cenpe A G 3: 134,940,986 (GRCm39) probably null Het
Cenph A G 13: 100,900,075 (GRCm39) V151A probably damaging Het
Cfap54 A G 10: 92,675,333 (GRCm39) S2863P possibly damaging Het
Clca3a1 A T 3: 144,738,400 (GRCm39) V36D probably damaging Het
Cnbd1 G A 4: 18,887,693 (GRCm39) R274C probably benign Het
Crot T C 5: 9,027,541 (GRCm39) T264A probably benign Het
Dll4 A G 2: 119,164,573 (GRCm39) D664G probably damaging Het
Ehbp1 C T 11: 22,087,867 (GRCm39) A406T probably benign Het
Far2 T A 6: 148,052,252 (GRCm39) I177N probably damaging Het
Flt4 T G 11: 49,527,567 (GRCm39) V910G probably damaging Het
Fmod A G 1: 133,968,496 (GRCm39) R179G probably benign Het
Gdf2 T A 14: 33,666,791 (GRCm39) V171D probably damaging Het
Gpx6 C A 13: 21,501,828 (GRCm39) S150Y probably damaging Het
Grik2 A T 10: 49,298,750 (GRCm39) Y37N probably damaging Het
Grn T C 11: 102,327,165 (GRCm39) V559A probably damaging Het
Lrrc37 A T 11: 103,509,927 (GRCm39) probably benign Het
Muc2 T A 7: 141,300,541 (GRCm39) probably benign Het
Myo5b T C 18: 74,767,552 (GRCm39) Y287H probably damaging Het
Nbeal2 T C 9: 110,462,914 (GRCm39) T1350A probably damaging Het
Nfkbiz T C 16: 55,638,799 (GRCm39) I220M probably benign Het
Nt5dc2 T C 14: 30,860,832 (GRCm39) S439P probably damaging Het
Omg T A 11: 79,393,224 (GRCm39) E211D probably benign Het
Or52ab7 T G 7: 102,978,285 (GRCm39) D197E probably damaging Het
Or8k18 A T 2: 86,085,935 (GRCm39) I34N possibly damaging Het
Pcdhb4 A G 18: 37,441,901 (GRCm39) T404A possibly damaging Het
Plcl1 T A 1: 55,737,374 (GRCm39) M905K probably benign Het
Plod2 G T 9: 92,480,672 (GRCm39) G422* probably null Het
Ppp1r12a T C 10: 108,089,341 (GRCm39) V660A probably benign Het
Prdm6 T C 18: 53,673,278 (GRCm39) I186T possibly damaging Het
Ptprq T G 10: 107,547,923 (GRCm39) K158N possibly damaging Het
Rimbp2 A G 5: 128,874,862 (GRCm39) V243A probably damaging Het
Rp1l1 T A 14: 64,267,758 (GRCm39) Y1115N probably damaging Het
Rtn4 C T 11: 29,657,505 (GRCm39) T553I probably damaging Het
Scrn3 T C 2: 73,166,121 (GRCm39) S385P possibly damaging Het
Serpina1f C A 12: 103,659,830 (GRCm39) G151* probably null Het
Sis T C 3: 72,850,968 (GRCm39) T577A probably damaging Het
Slco1a1 A T 6: 141,854,819 (GRCm39) S611T probably benign Het
Smad4 G T 18: 73,810,807 (GRCm39) T59K possibly damaging Het
Syne1 T C 10: 4,993,630 (GRCm39) D8370G probably benign Het
Tigd4 G A 3: 84,502,585 (GRCm39) A501T possibly damaging Het
Tjp1 A T 7: 64,947,387 (GRCm39) C1724* probably null Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tsc22d1 T C 14: 76,656,049 (GRCm39) S761P probably damaging Het
Tyw5 A T 1: 57,430,687 (GRCm39) D165E probably damaging Het
U2af2 T A 7: 5,072,438 (GRCm39) probably null Het
Ube3b T A 5: 114,550,491 (GRCm39) D839E probably benign Het
Ush2a A G 1: 188,113,698 (GRCm39) D639G probably benign Het
Veph1 A T 3: 66,065,648 (GRCm39) M473K probably benign Het
Vmn2r72 A T 7: 85,399,017 (GRCm39) N445K probably damaging Het
Vps37d T C 5: 135,105,393 (GRCm39) M77V probably null 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
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'- CAGAATGCTGAATCCCGAAGGC -3'
(R):5'- AAACTTGGAGTAATGTGGGCC -3'

Sequencing Primer
(F):5'- CGAAGGCCCATCACTGC -3'
(R):5'- CCGACCAGGATGAGAGATTTGACTC -3'
Posted On 2015-04-30