Incidental Mutation 'IGL02651:Ms4a6c'
ID 302136
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a6c
Ensembl Gene ENSMUSG00000079419
Gene Name membrane-spanning 4-domains, subfamily A, member 6C
Synonyms 2200009H22Rik, 2210417N07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL02651
Quality Score
Status
Chromosome 19
Chromosomal Location 11446730-11459556 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11455669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 159 (E159D)
Ref Sequence ENSEMBL: ENSMUSP00000132425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165310]
AlphaFold Q99N08
Predicted Effect possibly damaging
Transcript: ENSMUST00000165310
AA Change: E159D

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132425
Gene: ENSMUSG00000079419
AA Change: E159D

DomainStartEndE-ValueType
Pfam:CD20 47 207 3.2e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189306
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,909,906 (GRCm39) G233S probably benign Het
Abcc1 T A 16: 14,283,990 (GRCm39) C1202S probably benign Het
Acaca C T 11: 84,136,030 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,613,529 (GRCm39) F676Y probably damaging Het
Arhgef11 C A 3: 87,606,171 (GRCm39) Q309K probably damaging Het
Asgr1 T C 11: 69,947,956 (GRCm39) Y80H possibly damaging Het
Atp13a5 A T 16: 29,152,909 (GRCm39) probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atp8b2 A C 3: 89,861,896 (GRCm39) probably null Het
Btnl2 A G 17: 34,575,196 (GRCm39) M1V probably null Het
Cpsf3 T A 12: 21,343,298 (GRCm39) M121K probably damaging Het
Creb3l3 A G 10: 80,920,668 (GRCm39) I454T probably benign Het
Cyp2d12 A G 15: 82,440,941 (GRCm39) E153G probably damaging Het
Dnah5 A G 15: 28,350,768 (GRCm39) I2597V probably benign Het
Ercc5 C A 1: 44,196,104 (GRCm39) S32R probably damaging Het
Fchsd2 T A 7: 100,926,807 (GRCm39) N656K possibly damaging Het
Fga G A 3: 82,935,841 (GRCm39) E23K probably benign Het
Fn1 T C 1: 71,636,835 (GRCm39) T1925A possibly damaging Het
Fstl5 A T 3: 76,500,841 (GRCm39) E423D probably damaging Het
Glg1 C T 8: 111,887,359 (GRCm39) M465I possibly damaging Het
H2-M10.4 C A 17: 36,771,548 (GRCm39) R210L probably benign Het
Hbb-y T G 7: 103,501,957 (GRCm39) K105Q probably benign Het
Hspg2 A T 4: 137,284,756 (GRCm39) probably benign Het
Ipo11 T C 13: 107,012,114 (GRCm39) Y556C probably damaging Het
Itpr3 A G 17: 27,325,372 (GRCm39) M1322V probably damaging Het
Jhy A G 9: 40,828,631 (GRCm39) L425P probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Msh6 A T 17: 88,296,943 (GRCm39) L1213F probably damaging Het
Npy1r A C 8: 67,157,675 (GRCm39) R328S possibly damaging Het
Or4a74 A T 2: 89,439,842 (GRCm39) N201K possibly damaging Het
Or5ak20 A C 2: 85,183,394 (GRCm39) L292R probably damaging Het
Pcdhb18 T G 18: 37,624,234 (GRCm39) Y521* probably null Het
Pkhd1l1 A T 15: 44,347,210 (GRCm39) Y192F probably damaging Het
Rdh12 T A 12: 79,268,826 (GRCm39) I301N probably damaging Het
Rptor T C 11: 119,783,438 (GRCm39) V1144A possibly damaging Het
Sap25 T C 5: 137,640,632 (GRCm39) F171L possibly damaging Het
Senp5 A G 16: 31,808,897 (GRCm39) L92P probably benign Het
Sfmbt1 T C 14: 30,537,494 (GRCm39) S736P probably damaging Het
Tacr1 T C 6: 82,469,622 (GRCm39) S169P probably damaging Het
Tbc1d21 A T 9: 58,270,384 (GRCm39) Y130* probably null Het
Tle2 G A 10: 81,422,723 (GRCm39) G428D probably damaging Het
Tmem117 T A 15: 94,992,442 (GRCm39) N367K probably damaging Het
Tmem210 A G 2: 25,179,101 (GRCm39) T130A possibly damaging Het
Ttn T G 2: 76,680,368 (GRCm39) probably benign Het
Ttyh1 T C 7: 4,127,678 (GRCm39) L122P probably damaging Het
Vmn2r60 T C 7: 41,845,010 (GRCm39) F791S probably damaging Het
Vps13d A T 4: 144,891,129 (GRCm39) N575K probably benign Het
Vps8 T C 16: 21,336,086 (GRCm39) V746A probably damaging Het
Wdfy3 A T 5: 102,044,341 (GRCm39) M1888K probably benign Het
Zfp595 T C 13: 67,469,017 (GRCm39) D3G probably benign Het
Other mutations in Ms4a6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Ms4a6c APN 19 11,455,676 (GRCm39) missense probably benign 0.08
IGL02053:Ms4a6c APN 19 11,455,586 (GRCm39) missense probably benign 0.31
IGL02941:Ms4a6c APN 19 11,448,466 (GRCm39) utr 5 prime probably benign
R0962:Ms4a6c UTSW 19 11,448,506 (GRCm39) missense probably benign 0.01
R5434:Ms4a6c UTSW 19 11,448,588 (GRCm39) missense probably benign 0.01
R5592:Ms4a6c UTSW 19 11,458,496 (GRCm39) intron probably benign
R5592:Ms4a6c UTSW 19 11,457,641 (GRCm39) intron probably benign
R5594:Ms4a6c UTSW 19 11,455,537 (GRCm39) missense probably benign 0.38
R5945:Ms4a6c UTSW 19 11,457,863 (GRCm39) intron probably benign
R6214:Ms4a6c UTSW 19 11,448,500 (GRCm39) missense possibly damaging 0.86
R7349:Ms4a6c UTSW 19 11,455,555 (GRCm39) missense probably damaging 1.00
R7484:Ms4a6c UTSW 19 11,449,893 (GRCm39) critical splice donor site probably null
R8293:Ms4a6c UTSW 19 11,455,660 (GRCm39) missense probably benign
R9442:Ms4a6c UTSW 19 11,449,851 (GRCm39) missense probably benign 0.31
Posted On 2015-04-16