Incidental Mutation 'IGL00687:Ms4a4c'
ID10338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a4c
Ensembl Gene ENSMUSG00000024675
Gene Namemembrane-spanning 4-domains, subfamily A, member 4C
Synonyms5830413L19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.031) question?
Stock #IGL00687
Quality Score
Status
Chromosome19
Chromosomal Location11404770-11427246 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 11421318 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 167 (S167P)
Ref Sequence ENSEMBL: ENSMUSP00000072512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072729] [ENSMUST00000119366] [ENSMUST00000153546]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072729
AA Change: S167P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072512
Gene: ENSMUSG00000024675
AA Change: S167P

DomainStartEndE-ValueType
Pfam:CD20 43 142 1.7e-20 PFAM
transmembrane domain 147 169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119366
SMART Domains Protein: ENSMUSP00000113130
Gene: ENSMUSG00000024675

DomainStartEndE-ValueType
Pfam:CD20 35 179 3.9e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153546
SMART Domains Protein: ENSMUSP00000118694
Gene: ENSMUSG00000024675

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v0a1 T A 11: 101,030,505 probably null Het
Cpb2 A G 14: 75,275,093 I315M possibly damaging Het
Dnah11 T A 12: 117,922,004 probably benign Het
G3bp2 T C 5: 92,065,848 E150G probably damaging Het
Ibsp A G 5: 104,310,068 E157G probably benign Het
Pkhd1 T C 1: 20,524,070 N1273S probably benign Het
Rap1gap2 T A 11: 74,416,259 D337V probably benign Het
Slc35f3 T C 8: 126,382,164 F151L probably benign Het
Unc5d A T 8: 28,715,813 probably benign Het
Zfp711 G A X: 112,624,811 R284Q probably damaging Het
Other mutations in Ms4a4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Ms4a4c APN 19 11419036 missense probably damaging 1.00
IGL01142:Ms4a4c APN 19 11426250 missense probably benign
IGL03128:Ms4a4c APN 19 11417641 critical splice acceptor site probably null
IGL02980:Ms4a4c UTSW 19 11416383 missense probably benign 0.01
R0012:Ms4a4c UTSW 19 11418980 unclassified probably benign
R3852:Ms4a4c UTSW 19 11416395 missense probably benign 0.32
R4421:Ms4a4c UTSW 19 11416375 missense probably damaging 1.00
R5209:Ms4a4c UTSW 19 11416438 missense probably damaging 1.00
R6183:Ms4a4c UTSW 19 11426229 missense possibly damaging 0.59
R6439:Ms4a4c UTSW 19 11421312 missense probably benign 0.00
R6967:Ms4a4c UTSW 19 11414827 missense probably benign
Posted On2012-12-06