Incidental Mutation 'IGL02053:Ms4a6c'
ID185129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a6c
Ensembl Gene ENSMUSG00000079419
Gene Namemembrane-spanning 4-domains, subfamily A, member 6C
Synonyms2210417N07Rik, 2200009H22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL02053
Quality Score
Status
Chromosome19
Chromosomal Location11469366-11482192 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 11478222 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 132 (I132V)
Ref Sequence ENSEMBL: ENSMUSP00000132425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165310]
Predicted Effect probably benign
Transcript: ENSMUST00000165310
AA Change: I132V

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132425
Gene: ENSMUSG00000079419
AA Change: I132V

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik T C 6: 129,326,762 Q80R probably benign Het
Adgrf5 T C 17: 43,450,167 S918P possibly damaging Het
AY358078 G T 14: 51,805,552 E232D unknown Het
Baz1b C A 5: 135,242,466 P1301Q probably benign Het
Btn2a2 T C 13: 23,478,820 D311G probably damaging Het
Cept1 A T 3: 106,533,396 L149Q probably damaging Het
Col6a4 T A 9: 106,063,095 D1212V possibly damaging Het
Cyp2j8 T C 4: 96,470,654 I343V probably damaging Het
Dapk2 A G 9: 66,220,745 I102V probably benign Het
Dntt A G 19: 41,046,274 T321A probably benign Het
Ezh1 T C 11: 101,199,943 probably benign Het
Fam189a1 C T 7: 64,819,842 G53R probably damaging Het
Fbxw5 T C 2: 25,503,441 V18A probably damaging Het
Fgd5 T A 6: 92,053,244 C1109S probably benign Het
Ncoa3 T C 2: 166,054,834 L515P probably damaging Het
Nfic A G 10: 81,420,551 V115A probably damaging Het
P4ha2 A G 11: 54,117,587 T207A probably benign Het
Pde10a G T 17: 8,974,769 V732L probably damaging Het
Pfas A T 11: 68,992,953 L626Q probably damaging Het
Plekha6 A G 1: 133,272,492 N270D probably damaging Het
Prdm10 T C 9: 31,360,848 S977P probably benign Het
Ptprm A G 17: 66,693,841 L1073P probably damaging Het
Rai14 A C 15: 10,633,156 H49Q probably benign Het
Ros1 T A 10: 52,162,720 I394F probably damaging Het
Sec14l1 C T 11: 117,156,912 probably benign Het
Sema5a A G 15: 32,550,267 I151V probably benign Het
Tet2 T A 3: 133,488,523 N50I possibly damaging Het
Tubal3 A C 13: 3,933,159 D313A probably damaging Het
Usp45 A G 4: 21,824,553 N483S probably benign Het
Other mutations in Ms4a6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Ms4a6c APN 19 11478312 missense probably benign 0.08
IGL02651:Ms4a6c APN 19 11478305 missense possibly damaging 0.46
IGL02941:Ms4a6c APN 19 11471102 utr 5 prime probably benign
R0962:Ms4a6c UTSW 19 11471142 missense probably benign 0.01
R5434:Ms4a6c UTSW 19 11471224 missense probably benign 0.01
R5592:Ms4a6c UTSW 19 11480277 intron probably benign
R5592:Ms4a6c UTSW 19 11481132 intron probably benign
R5594:Ms4a6c UTSW 19 11478173 missense probably benign 0.38
R5945:Ms4a6c UTSW 19 11480499 intron probably benign
R6214:Ms4a6c UTSW 19 11471136 missense possibly damaging 0.86
R7349:Ms4a6c UTSW 19 11478191 missense probably damaging 1.00
R7484:Ms4a6c UTSW 19 11472529 critical splice donor site probably null
Posted On2014-05-07