Incidental Mutation 'R0042:Gzmm'
ID 18561
Institutional Source Beutler Lab
Gene Symbol Gzmm
Ensembl Gene ENSMUSG00000054206
Gene Name granzyme M (lymphocyte met-ase 1)
Synonyms Lmet1
MMRRC Submission 038336-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R0042 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 79524854-79531095 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79530399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 190 (I190T)
Ref Sequence ENSEMBL: ENSMUSP00000020549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020549]
AlphaFold O08643
Predicted Effect probably benign
Transcript: ENSMUST00000020549
AA Change: I190T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020549
Gene: ENSMUSG00000054206
AA Change: I190T

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 26 251 4.6e-74 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151213
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 81.9%
  • 3x: 73.7%
  • 10x: 53.7%
  • 20x: 34.5%
Validation Efficiency 94% (58/62)
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of a family of cytotoxic lymphocyte serine proteases called granzymes, which are expressed by cytotoxic T lymphocytes and natural killer cells. This protein belongs to a subfamily of granzymes that cleave after methionine residues. Natural killer cell development, homeostasis and cytotoxicity are normal in mice deficient for this gene, but they demonstrate increased susceptibility to murine cytomegalovirus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-in allele display normal immune homeostasis, normal NK cell cytotoxicity and a normal response to ectromelia virus infection, but show a transient but significant increase in susceptibility to infection with the murine cytomegalovirus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,059,245 (GRCm39) probably benign Het
Adgrf3 A G 5: 30,402,426 (GRCm39) L534P probably damaging Het
Ank2 T C 3: 126,730,280 (GRCm39) D3568G probably damaging Het
Atr T A 9: 95,809,409 (GRCm39) probably benign Het
Ccnb2 A G 9: 70,326,335 (GRCm39) V34A probably benign Het
Dmxl1 C A 18: 49,997,102 (GRCm39) T466K probably benign Het
Eya1 T C 1: 14,254,713 (GRCm39) D373G probably damaging Het
Fam120a A G 13: 49,087,490 (GRCm39) V290A probably damaging Het
Gpr179 C T 11: 97,225,757 (GRCm39) V2133I probably benign Het
Grb10 G T 11: 11,886,798 (GRCm39) H435Q probably damaging Het
H2-Q3 A G 17: 35,578,823 (GRCm39) noncoding transcript Het
Hspb7 A G 4: 141,151,245 (GRCm39) E129G probably damaging Het
Il17ra T C 6: 120,449,086 (GRCm39) probably benign Het
Itgb3 A G 11: 104,557,966 (GRCm39) T787A possibly damaging Het
Krt4 T G 15: 101,831,187 (GRCm39) probably benign Het
Lgsn C T 1: 31,229,534 (GRCm39) T85I probably benign Het
Metap1 C T 3: 138,177,918 (GRCm39) V217I probably benign Het
Mib2 A T 4: 155,743,897 (GRCm39) C48* probably null Het
Mroh4 T A 15: 74,482,154 (GRCm39) I768F probably damaging Het
Npas3 T A 12: 54,095,624 (GRCm39) D361E probably damaging Het
P4hb G A 11: 120,459,092 (GRCm39) R134C probably damaging Het
Prr35 C A 17: 26,166,956 (GRCm39) E194* probably null Het
Rbl1 A G 2: 157,017,624 (GRCm39) probably benign Het
Rdh10 T A 1: 16,178,260 (GRCm39) probably benign Het
Spata31 A T 13: 65,070,377 (GRCm39) I842L probably benign Het
Stk32b A C 5: 37,874,092 (GRCm39) D13E probably benign Het
Svep1 T C 4: 58,123,192 (GRCm39) D708G possibly damaging Het
Taar6 T C 10: 23,861,021 (GRCm39) D175G probably benign Het
Tmod4 T C 3: 95,037,099 (GRCm39) D164G possibly damaging Het
Ttc23l A C 15: 10,551,627 (GRCm39) L33W probably damaging Het
Ttc39d T C 17: 80,523,379 (GRCm39) Y13H probably benign Het
Utp18 G T 11: 93,766,684 (GRCm39) T309K probably damaging Het
Vps11 G T 9: 44,267,588 (GRCm39) Y341* probably null Het
Vsig8 T C 1: 172,387,925 (GRCm39) V5A possibly damaging Het
Other mutations in Gzmm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Gzmm APN 10 79,530,896 (GRCm39) missense probably benign 0.18
IGL02967:Gzmm APN 10 79,530,897 (GRCm39) missense possibly damaging 0.88
IGL03162:Gzmm APN 10 79,528,790 (GRCm39) missense probably damaging 1.00
R0042:Gzmm UTSW 10 79,530,399 (GRCm39) missense probably benign
R4804:Gzmm UTSW 10 79,530,890 (GRCm39) missense probably benign 0.00
R5340:Gzmm UTSW 10 79,530,907 (GRCm39) missense probably benign 0.11
R8881:Gzmm UTSW 10 79,530,819 (GRCm39) critical splice acceptor site probably null
R9242:Gzmm UTSW 10 79,530,354 (GRCm39) missense probably damaging 0.98
Z1177:Gzmm UTSW 10 79,530,840 (GRCm39) frame shift probably null
Posted On 2013-03-25