Incidental Mutation 'R8807:Abca8a'
ID 672160
Institutional Source Beutler Lab
Gene Symbol Abca8a
Ensembl Gene ENSMUSG00000041828
Gene Name ATP-binding cassette, sub-family A member 8a
Synonyms
MMRRC Submission 068643-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R8807 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 109916460-109986804 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109974252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 227 (F227L)
Ref Sequence ENSEMBL: ENSMUSP00000097860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046223] [ENSMUST00000100287] [ENSMUST00000106662] [ENSMUST00000106664]
AlphaFold Q8K442
Predicted Effect probably benign
Transcript: ENSMUST00000046223
AA Change: F227L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: F227L

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: F227L

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: F227L

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 benign
Transcript: ENSMUST00000106664
AA Change: F227L

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: F227L

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik T C 5: 48,534,494 (GRCm39) I118T probably damaging Het
Abcc6 A T 7: 45,648,431 (GRCm39) I687N possibly damaging Het
Akain1 T C 17: 69,794,340 (GRCm39) *70Q probably null Het
Allc C T 12: 28,615,489 (GRCm39) G89S probably damaging Het
Aoc1l3 T C 6: 48,965,188 (GRCm39) F399L probably benign Het
Artn A T 4: 117,783,915 (GRCm39) S184T possibly damaging Het
B3galt9 A T 2: 34,728,818 (GRCm39) I206F probably damaging Het
Bcl2a1c A T 9: 114,159,248 (GRCm39) I9F probably damaging Het
Cacna2d1 T A 5: 16,472,452 (GRCm39) D286E probably damaging Het
Cdc25a G A 9: 109,708,303 (GRCm39) E98K probably benign Het
Cdcp3 A T 7: 130,846,507 (GRCm39) I644F probably damaging Het
Cdr2l A T 11: 115,284,741 (GRCm39) Q359L probably damaging Het
Cmip C T 8: 118,138,094 (GRCm39) T103M probably benign Het
Dcaf1 A G 9: 106,742,268 (GRCm39) T1358A probably benign Het
Dedd2 C T 7: 24,910,705 (GRCm39) R157Q probably benign Het
Dhrs1 A G 14: 55,982,499 (GRCm39) V9A probably damaging Het
Dop1b T A 16: 93,558,973 (GRCm39) V573E probably benign Het
Eef2k A T 7: 120,490,930 (GRCm39) I517F possibly damaging Het
En1 T C 1: 120,531,090 (GRCm39) F110S possibly damaging Het
Evpl T A 11: 116,111,853 (GRCm39) I1946F probably damaging Het
Gaa A T 11: 119,168,393 (GRCm39) M502L probably benign Het
Gfer C T 17: 24,914,846 (GRCm39) A66T possibly damaging Het
Gm13271 A G 4: 88,673,213 (GRCm39) T37A probably benign Het
Grm3 C T 5: 9,561,499 (GRCm39) A784T probably damaging Het
H3c8 A G 13: 23,719,628 (GRCm39) K5E probably benign Het
Helz C G 11: 107,493,835 (GRCm39) S277C probably damaging Het
Henmt1 T G 3: 108,867,652 (GRCm39) *396G probably null Het
Hfe C T 13: 23,889,667 (GRCm39) V327I probably benign Het
Hoxd8 A T 2: 74,536,313 (GRCm39) Q141L probably damaging Het
Hspa12b T G 2: 130,987,103 (GRCm39) S675A probably benign Het
Ifi214 G A 1: 173,354,133 (GRCm39) T179I possibly damaging Het
Ighv5-9 T A 12: 113,625,404 (GRCm39) Y113F possibly damaging Het
Lca5l T A 16: 95,979,808 (GRCm39) R112S probably benign Het
Lmbrd1 C T 1: 24,770,843 (GRCm39) P257S probably benign Het
Loxhd1 C T 18: 77,444,468 (GRCm39) T608I possibly damaging Het
Lpl C A 8: 69,345,280 (GRCm39) L95I probably damaging Het
Lrp2bp A T 8: 46,473,732 (GRCm39) Q196L probably damaging Het
Ly6h A G 15: 75,438,056 (GRCm39) Y19H probably benign Het
Mfsd6 T C 1: 52,697,706 (GRCm39) probably benign Het
Mpo T C 11: 87,687,165 (GRCm39) I237T probably benign Het
Mrpl41 A G 2: 24,864,878 (GRCm39) W6R unknown Het
Muc16 T A 9: 18,567,353 (GRCm39) H1722L unknown Het
Mug1 A C 6: 121,851,434 (GRCm39) D777A probably benign Het
Myh1 A T 11: 67,111,354 (GRCm39) I1598F probably benign Het
Myo1f C T 17: 33,794,879 (GRCm39) R40C probably damaging Het
Myo6 G A 9: 80,207,949 (GRCm39) probably null Het
Nbeal2 G T 9: 110,458,707 (GRCm39) N2071K probably damaging Het
Nectin4 T A 1: 171,211,282 (GRCm39) C269S probably damaging Het
Nhlrc1 A T 13: 47,167,990 (GRCm39) L89Q probably damaging Het
Nup205 T C 6: 35,160,904 (GRCm39) F103S probably damaging Het
Obscn C A 11: 58,970,470 (GRCm39) V2379F probably damaging Het
Or5m8 A T 2: 85,823,172 (GRCm39) *337L probably null Het
Or5p62 A T 7: 107,771,852 (GRCm39) I33N possibly damaging Het
Plppr2 TCGCC TC 9: 21,855,727 (GRCm39) probably benign Het
Ptbp3 A G 4: 59,517,584 (GRCm39) V101A probably benign Het
Rps6kb2 C T 19: 4,213,229 (GRCm39) D6N probably damaging Het
Rsph1 T A 17: 31,484,828 (GRCm39) H154L probably damaging Het
Sdk1 G A 5: 142,071,382 (GRCm39) V1191M probably damaging Het
Selenos T A 7: 65,729,467 (GRCm39) D2E probably benign Het
Sema5a G A 15: 32,562,868 (GRCm39) G293D possibly damaging Het
Sgcg A G 14: 61,469,930 (GRCm39) S144P probably damaging Het
Sh3d19 T C 3: 85,992,659 (GRCm39) V229A probably benign Het
Sin3b C T 8: 73,476,708 (GRCm39) A714V probably benign Het
Slitrk6 T A 14: 110,988,123 (GRCm39) Q528L possibly damaging Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Stard9 T A 2: 120,535,932 (GRCm39) L4063H probably damaging Het
Stard9 A C 2: 120,535,943 (GRCm39) K4067Q probably damaging Het
Terb1 A G 8: 105,195,741 (GRCm39) probably null Het
Tex2 T A 11: 106,435,194 (GRCm39) H744L unknown Het
Tex2 T C 11: 106,458,414 (GRCm39) S339G unknown Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Trhr A T 15: 44,061,212 (GRCm39) N244I probably benign Het
Ttn G A 2: 76,582,409 (GRCm39) A22828V probably damaging Het
Uchl1 C T 5: 66,833,601 (GRCm39) probably benign Het
Uroc1 A T 6: 90,328,110 (GRCm39) I529F probably damaging Het
Vps13c G T 9: 67,766,122 (GRCm39) V80F probably damaging Het
Wnt1 T A 15: 98,690,645 (GRCm39) C325S 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
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
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
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'- GAATGTTCTAATAATGGCAGAGGC -3'
(R):5'- CTCGGGCTAACTTCCAATCC -3'

Sequencing Primer
(F):5'- TACCCTCCAAGAGCTGAGATTATGG -3'
(R):5'- CCAGACAAGTCAGTTATATCTTCCAG -3'
Posted On 2021-04-30