Incidental Mutation 'IGL00706:Ms4a5'
ID10340
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a5
Ensembl Gene ENSMUSG00000054523
Gene Namemembrane-spanning 4-domains, subfamily A, member 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL00706
Quality Score
Status
Chromosome19
Chromosomal Location11273238-11283873 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 11283778 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 6 (V6I)
Ref Sequence ENSEMBL: ENSMUSP00000139805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067673] [ENSMUST00000186937] [ENSMUST00000188267]
Predicted Effect probably benign
Transcript: ENSMUST00000067673
AA Change: V6I

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000066960
Gene: ENSMUSG00000054523
AA Change: V6I

DomainStartEndE-ValueType
Pfam:CD20 49 189 1.6e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181137
Predicted Effect probably benign
Transcript: ENSMUST00000186937
AA Change: V6I

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139805
Gene: ENSMUSG00000054523
AA Change: V6I

DomainStartEndE-ValueType
Pfam:CD20 50 146 4.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188267
AA Change: V6I

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139493
Gene: ENSMUSG00000054523
AA Change: V6I

DomainStartEndE-ValueType
Pfam:CD20 49 100 4.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191110
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. Though this member is not expressed in hematopoietic cells specifically, it may be involved in signal transduction like many of its related family members. The gene encoding this protein is localized to 11q12, among a cluster of family members. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak C A 19: 9,013,730 S4126* probably null Het
Arhgap26 T A 18: 39,286,551 N521K probably damaging Het
Bard1 C T 1: 71,031,426 R633H probably benign Het
Cntn3 C T 6: 102,203,949 V762I probably benign Het
Cyp2e1 T C 7: 140,769,153 I132T probably benign Het
Cyp2t4 T C 7: 27,155,158 I13T probably benign Het
Dhx36 A T 3: 62,496,842 C227S probably damaging Het
Dusp27 T C 1: 166,100,552 E497G probably benign Het
Fetub A G 16: 22,935,696 T138A probably benign Het
Gab3 C T X: 75,005,359 S362N probably benign Het
Gpr158 T C 2: 21,746,773 L501P probably damaging Het
Ifit1bl2 T A 19: 34,618,882 T445S probably benign Het
Kdm5a T A 6: 120,406,636 D779E possibly damaging Het
Rgl3 A G 9: 21,977,239 F425S probably damaging Het
Rnf6 T C 5: 146,211,905 D112G possibly damaging Het
Spink12 G A 18: 44,107,805 C86Y probably damaging Het
Wdr3 G A 3: 100,148,100 probably benign Het
Other mutations in Ms4a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01948:Ms4a5 APN 19 11279353 missense probably damaging 0.99
IGL03341:Ms4a5 APN 19 11279378 missense probably benign 0.03
R0420:Ms4a5 UTSW 19 11283654 missense probably damaging 0.97
R2126:Ms4a5 UTSW 19 11279368 missense probably damaging 1.00
R6457:Ms4a5 UTSW 19 11279282 missense probably benign 0.01
Posted On2012-12-06