Incidental Mutation 'IGL01300:Gzmb'
ID 75228
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 # IGL01300
Quality Score
Chromosome 14
Chromosomal Location 56496295-56499717 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56497653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 196 (R196C)
Ref Sequence ENSEMBL: ENSMUSP00000015581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015581]
AlphaFold P04187
Predicted Effect probably benign
Transcript: ENSMUST00000015581
AA Change: R196C

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000015581
Gene: ENSMUSG00000015437
AA Change: R196C

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa8 A G 14: 33,821,700 (GRCm39) D300G probably benign Het
Cacna1g T C 11: 94,324,738 (GRCm39) H1161R probably benign Het
Col14a1 G A 15: 55,331,372 (GRCm39) R1471Q unknown Het
Gm14496 A T 2: 181,642,753 (GRCm39) E808V probably damaging Het
Gm1968 T C 16: 29,781,038 (GRCm39) noncoding transcript Het
Hkdc1 A G 10: 62,231,040 (GRCm39) probably benign Het
Itgal T A 7: 126,913,290 (GRCm39) V629E probably damaging Het
Jak2 T A 19: 29,287,083 (GRCm39) Y1050N probably damaging Het
Lrrc69 C T 4: 14,773,663 (GRCm39) probably benign Het
Mmd T C 11: 90,140,537 (GRCm39) M1T probably null Het
Myh6 A G 14: 55,200,548 (GRCm39) V191A possibly damaging Het
Mynn A G 3: 30,667,755 (GRCm39) N485S probably damaging Het
Naa30 C T 14: 49,410,714 (GRCm39) T214M probably damaging Het
Ncoa3 A T 2: 165,910,381 (GRCm39) T1265S probably benign Het
Or10al2 C A 17: 37,983,778 (GRCm39) T288K probably damaging Het
Or1j10 T C 2: 36,267,054 (GRCm39) S89P probably benign Het
Prex1 A G 2: 166,480,327 (GRCm39) C138R possibly damaging Het
Prom2 A T 2: 127,377,009 (GRCm39) L535H probably benign Het
Pros1 T C 16: 62,734,174 (GRCm39) F327L possibly damaging Het
Ros1 A G 10: 51,977,809 (GRCm39) M1479T probably benign Het
Scn9a G A 2: 66,318,397 (GRCm39) Q1465* probably null Het
Serpinb3b A G 1: 107,083,573 (GRCm39) probably benign Het
Sipa1l3 G A 7: 29,099,253 (GRCm39) Q339* probably null Het
Slc34a2 A C 5: 53,225,469 (GRCm39) probably null Het
Smc3 T A 19: 53,630,283 (GRCm39) probably benign Het
Tmem30a A G 9: 79,682,382 (GRCm39) probably null Het
Trappc11 A T 8: 47,954,903 (GRCm39) D878E probably benign Het
Trrap C T 5: 144,741,628 (GRCm39) T1325M probably damaging Het
Ttc12 A T 9: 49,359,222 (GRCm39) probably benign Het
Vmn1r237 T A 17: 21,534,337 (GRCm39) I20N probably damaging Het
Vmn2r115 T A 17: 23,578,755 (GRCm39) S743T probably damaging Het
Vmn2r74 A G 7: 85,606,414 (GRCm39) Y311H probably benign Het
Vnn3 T A 10: 23,740,263 (GRCm39) F189I possibly damaging Het
Other mutations in Gzmb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01468:Gzmb APN 14 56,497,772 (GRCm39) missense probably benign 0.03
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 2013-10-07