Incidental Mutation 'IGL01468:Gzmb'
ID88158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gzmb
Ensembl Gene ENSMUSG00000015437
Gene Namegranzyme B
SynonymsCtla1, Ctla-1, CCP1, GZB, CCP-1/C11
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL01468
Quality Score
Status
Chromosome14
Chromosomal Location56258838-56262260 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 56260315 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 156 (Y156C)
Ref Sequence ENSEMBL: ENSMUSP00000015581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015581]
Predicted Effect probably benign
Transcript: ENSMUST00000015581
AA Change: Y156C

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000015581
Gene: ENSMUSG00000015437
AA Change: Y156C

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 20 240 9.1e-87 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Mice lacking a functional copy of this gene exhibit impaired immune cell-mediated cytolysis. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for a null allele show impaired CTL and NK cell cytolysis, and enhanced clearance of allogeneic and syngeneic tumor cells. Homozygotes for another null allele have defective CTL cytolysis and show impaired clearance of allogeneic tumor cells only if the selection cassette is retained. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G A 10: 80,003,877 V781I probably benign Het
Aldh5a1 G T 13: 24,911,553 probably benign Het
Arhgap12 T C 18: 6,057,576 T435A probably benign Het
Atrnl1 G A 19: 57,699,712 V870I probably benign Het
Cerkl A T 2: 79,343,215 probably null Het
Cntnap2 T A 6: 47,271,371 L13* probably null Het
Cr2 G A 1: 195,168,535 P208S probably damaging Het
Dapk1 A G 13: 60,760,798 D1075G probably benign Het
Dhx57 T A 17: 80,255,610 K863* probably null Het
Dnaaf5 C A 5: 139,151,480 probably null Het
Fbxw7 T A 3: 84,972,499 I336K probably benign Het
Ftcd A G 10: 76,584,587 D385G probably benign Het
Gm10153 T C 7: 142,190,041 S117G unknown Het
Herc3 T A 6: 58,854,895 D83E probably benign Het
Kif2b A G 11: 91,576,365 V364A probably damaging Het
Mknk2 A G 10: 80,667,664 probably benign Het
Olfr1352 A T 10: 78,983,862 Q24L probably damaging Het
Pgm2 A T 4: 99,962,170 N197I possibly damaging Het
Prss39 C T 1: 34,499,400 probably benign Het
Shroom3 T C 5: 92,940,342 V236A probably damaging Het
Slc17a8 C T 10: 89,592,021 probably null Het
Slc24a3 A G 2: 145,613,580 Y463C probably benign Het
Slc4a7 A G 14: 14,737,480 E149G probably damaging Het
Synj1 G A 16: 91,010,172 probably benign Het
Tas2r138 T A 6: 40,612,476 M279L probably benign Het
Terb1 A G 8: 104,482,167 probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Trmt5 C T 12: 73,281,104 V442I probably benign Het
Tsc2 T C 17: 24,621,097 I383V possibly damaging Het
Uchl4 A G 9: 64,235,716 T160A possibly damaging Het
Vmn2r3 A T 3: 64,274,961 M439K possibly damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Vmn2r52 A T 7: 10,158,941 L757Q probably damaging Het
Zfp518a T C 19: 40,916,031 V1468A probably benign Het
Zxdc A T 6: 90,373,779 E404V probably damaging Het
Other mutations in Gzmb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Gzmb APN 14 56260196 missense probably benign 0.18
IGL03150:Gzmb APN 14 56260382 missense probably benign 0.00
R4832:Gzmb UTSW 14 56260222 missense probably damaging 1.00
R6928:Gzmb UTSW 14 56260277 missense probably benign 0.00
R7292:Gzmb UTSW 14 56262119 missense probably benign 0.23
R8701:Gzmb UTSW 14 56260360 missense probably benign 0.19
X0024:Gzmb UTSW 14 56259494 missense probably benign 0.00
Posted On2013-11-18