Incidental Mutation 'IGL00330:Ms4a6c'
ID5684
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: 0.050) question?
Stock #IGL00330
Quality Score
Status
Chromosome19
Chromosomal Location11469366-11482192 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 11478312 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 162 (Y162H)
Ref Sequence ENSEMBL: ENSMUSP00000132425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165310]
Predicted Effect probably benign
Transcript: ENSMUST00000165310
AA Change: Y162H

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000132425
Gene: ENSMUSG00000079419
AA Change: Y162H

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik T G 1: 193,174,779 D146E probably benign Het
Alpi A T 1: 87,099,720 L308Q probably damaging Het
Bhmt2 A T 13: 93,666,771 probably benign Het
Bsn T C 9: 108,115,340 E1071G probably damaging Het
Car3 A T 3: 14,868,379 N128Y probably benign Het
Cdkl2 C T 5: 92,017,377 probably null Het
Cul9 T C 17: 46,510,841 probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fam208b A G 13: 3,574,832 F1706S probably benign Het
Gm5771 T C 6: 41,394,773 L51P probably damaging Het
Gpr149 T G 3: 62,530,673 I688L probably damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Kif19a G A 11: 114,779,585 G107D probably damaging Het
Loxhd1 A C 18: 77,395,450 R1242S probably damaging Het
Msrb2 G T 2: 19,371,699 R6L unknown Het
Mum1l1 A G X: 139,235,694 D327G probably damaging Het
Myh2 A G 11: 67,193,440 N1630D probably benign Het
Myrf A G 19: 10,224,513 V200A probably benign Het
Ncor2 A G 5: 125,042,743 probably null Het
Nrg1 T A 8: 31,818,089 Q621L probably damaging Het
Olfr1350 A T 7: 6,570,668 I226F possibly damaging Het
Olfr745 G A 14: 50,643,168 A296T probably benign Het
Pfkp A G 13: 6,619,550 F211S probably damaging Het
Prame T C X: 135,614,509 N273S probably benign Het
Rnh1 G A 7: 141,166,731 A49V possibly damaging Het
Serhl C T 15: 83,104,373 S167F probably benign Het
Skint1 T C 4: 112,021,580 probably null Het
Taar7b A C 10: 24,000,842 I302L probably benign Het
Zfp106 G A 2: 120,539,497 P15S probably benign Het
Zfp385b T C 2: 77,476,778 Q167R probably damaging Het
Zfp800 T A 6: 28,243,038 T643S probably benign Het
Other mutations in Ms4a6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02053:Ms4a6c APN 19 11478222 missense probably benign 0.31
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 On2012-04-20