Incidental Mutation 'IGL01468:Gzmb'
ID 88158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gzmb
Ensembl Gene ENSMUSG00000015437
Gene Name granzyme B
Synonyms GZB, Ctla1, Ctla-1, CCP1, CCP-1/C11
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL01468
Quality Score
Status
Chromosome 14
Chromosomal Location 56496295-56499717 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56497772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 156 (Y156C)
Ref Sequence ENSEMBL: ENSMUSP00000015581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015581]
AlphaFold P04187
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: 79,839,711 (GRCm39) V781I probably benign Het
Aldh5a1 G T 13: 25,095,536 (GRCm39) probably benign Het
Arhgap12 T C 18: 6,057,576 (GRCm39) T435A probably benign Het
Atrnl1 G A 19: 57,688,144 (GRCm39) V870I probably benign Het
Cerkl A T 2: 79,173,559 (GRCm39) probably null Het
Cntnap2 T A 6: 47,248,305 (GRCm39) L13* probably null Het
Cr2 G A 1: 194,850,843 (GRCm39) P208S probably damaging Het
Dapk1 A G 13: 60,908,612 (GRCm39) D1075G probably benign Het
Dhx57 T A 17: 80,563,039 (GRCm39) K863* probably null Het
Dnaaf5 C A 5: 139,137,235 (GRCm39) probably null Het
Fbxw7 T A 3: 84,879,806 (GRCm39) I336K probably benign Het
Ftcd A G 10: 76,420,421 (GRCm39) D385G probably benign Het
Gm10153 T C 7: 141,743,778 (GRCm39) S117G unknown Het
Herc3 T A 6: 58,831,880 (GRCm39) D83E probably benign Het
Kif2b A G 11: 91,467,191 (GRCm39) V364A probably damaging Het
Mknk2 A G 10: 80,503,498 (GRCm39) probably benign Het
Or7a36 A T 10: 78,819,696 (GRCm39) Q24L probably damaging Het
Pgm1 A T 4: 99,819,367 (GRCm39) N197I possibly damaging Het
Prss39 C T 1: 34,538,481 (GRCm39) probably benign Het
Shroom3 T C 5: 93,088,201 (GRCm39) V236A probably damaging Het
Slc17a8 C T 10: 89,427,883 (GRCm39) probably null Het
Slc24a3 A G 2: 145,455,500 (GRCm39) Y463C probably benign Het
Slc4a7 A G 14: 14,737,480 (GRCm38) E149G probably damaging Het
Synj1 G A 16: 90,807,060 (GRCm39) probably benign Het
Tas2r138 T A 6: 40,589,410 (GRCm39) M279L probably benign Het
Terb1 A G 8: 105,208,799 (GRCm39) probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Trmt5 C T 12: 73,327,878 (GRCm39) V442I probably benign Het
Tsc2 T C 17: 24,840,071 (GRCm39) I383V possibly damaging Het
Uchl4 A G 9: 64,142,998 (GRCm39) T160A possibly damaging Het
Vmn2r3 A T 3: 64,182,382 (GRCm39) M439K possibly damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Vmn2r52 A T 7: 9,892,868 (GRCm39) L757Q probably damaging Het
Zfp518a T C 19: 40,904,475 (GRCm39) V1468A probably benign Het
Zxdc A T 6: 90,350,761 (GRCm39) E404V probably damaging Het
Other mutations in Gzmb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Gzmb APN 14 56,497,653 (GRCm39) missense probably benign 0.18
IGL03150:Gzmb APN 14 56,497,839 (GRCm39) missense probably benign 0.00
R4832:Gzmb UTSW 14 56,497,679 (GRCm39) missense probably damaging 1.00
R6928:Gzmb UTSW 14 56,497,734 (GRCm39) missense probably benign 0.00
R7292:Gzmb UTSW 14 56,499,576 (GRCm39) missense probably benign 0.23
R8701:Gzmb UTSW 14 56,497,817 (GRCm39) missense probably benign 0.19
R9103:Gzmb UTSW 14 56,498,622 (GRCm39) missense probably benign 0.00
R9126:Gzmb UTSW 14 56,497,845 (GRCm39) missense probably benign 0.01
R9147:Gzmb UTSW 14 56,496,964 (GRCm39) missense possibly damaging 0.88
R9407:Gzmb UTSW 14 56,497,712 (GRCm39) missense probably benign 0.00
X0024:Gzmb UTSW 14 56,496,951 (GRCm39) missense probably benign 0.00
Posted On 2013-11-18