Incidental Mutation 'IGL03150:Gzmb'
ID411055
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: 0.079) question?
Stock #IGL03150
Quality Score
Status
Chromosome14
Chromosomal Location56258838-56262260 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 56260382 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 134 (V134I)
Ref Sequence ENSEMBL: ENSMUSP00000015581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015581]
Predicted Effect probably benign
Transcript: ENSMUST00000015581
AA Change: V134I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000015581
Gene: ENSMUSG00000015437
AA Change: V134I

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,948,066 S1387P probably damaging Het
Aadat C T 8: 60,543,562 S399L probably damaging Het
C530008M17Rik G A 5: 76,867,250 E57K probably damaging Het
Ccdc36 G T 9: 108,404,956 T511K probably damaging Het
Corin T C 5: 72,302,858 D886G probably damaging Het
Eif2ak3 A T 6: 70,892,436 K702N possibly damaging Het
Ercc6 G T 14: 32,558,574 M709I probably damaging Het
Foxa1 T A 12: 57,542,296 E379D probably benign Het
Fscb C T 12: 64,472,430 G754D unknown Het
Muc5b A G 7: 141,865,509 T4010A possibly damaging Het
Necab3 A G 2: 154,554,742 Y55H probably damaging Het
Nova1 T C 12: 46,700,672 N274S possibly damaging Het
Nup54 C A 5: 92,428,164 G156V probably damaging Het
Obscn A T 11: 59,051,723 C4317S probably damaging Het
Papln T A 12: 83,782,984 W960R probably damaging Het
Pax4 C A 6: 28,444,339 G239W probably null Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Ptprj A G 2: 90,460,611 S502P probably damaging Het
Slit3 A G 11: 35,508,257 R150G possibly damaging Het
Srgap2 A T 1: 131,310,600 V658E probably damaging Het
Taar7e A T 10: 24,037,630 D6V probably benign Het
Trim25 T C 11: 89,000,005 C173R probably damaging Het
Trmt1l T C 1: 151,453,892 S529P probably benign Het
Ubn2 C T 6: 38,463,714 P174S probably benign Het
Ubox5 A G 2: 130,600,140 V209A probably benign Het
Vmn2r72 A G 7: 85,751,176 F222L probably damaging Het
Xpot C T 10: 121,609,186 A374T probably benign Het
Zfp451 A G 1: 33,777,454 C472R probably damaging Het
Zfp777 A G 6: 48,044,125 W232R probably damaging Het
Other mutations in Gzmb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Gzmb APN 14 56260196 missense probably benign 0.18
IGL01468:Gzmb APN 14 56260315 missense probably benign 0.03
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 On2016-08-02