Incidental Mutation 'R9242:Gzmm'
ID 701054
Institutional Source Beutler Lab
Gene Symbol Gzmm
Ensembl Gene ENSMUSG00000054206
Gene Name granzyme M (lymphocyte met-ase 1)
Synonyms Lmet1
MMRRC Submission 068988-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R9242 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 79524854-79531095 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79530354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 175 (D175V)
Ref Sequence ENSEMBL: ENSMUSP00000020549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020549]
AlphaFold O08643
Predicted Effect probably damaging
Transcript: ENSMUST00000020549
AA Change: D175V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020549
Gene: ENSMUSG00000054206
AA Change: D175V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 26 251 4.6e-74 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (49/49)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 C A 5: 8,949,677 (GRCm39) T79K probably damaging Het
Ackr3 G T 1: 90,142,558 (GRCm39) G339V probably damaging Het
Agpat4 G T 17: 12,429,186 (GRCm39) R146L probably damaging Het
Ampd1 C T 3: 102,998,936 (GRCm39) R364C probably damaging Het
Atrnl1 A G 19: 57,645,660 (GRCm39) T507A probably benign Het
Cand2 C G 6: 115,768,923 (GRCm39) R578G probably benign Het
Capg C T 6: 72,532,869 (GRCm39) P111L probably damaging Het
Carm1 C T 9: 21,494,350 (GRCm39) T289I probably damaging Het
Ccr6 A G 17: 8,474,965 (GRCm39) I57V probably benign Het
Cdk5rap2 T C 4: 70,255,583 (GRCm39) I434V possibly damaging Het
Chrdl2 C T 7: 99,655,743 (GRCm39) probably benign Het
Cntnap5a A G 1: 116,220,109 (GRCm39) T640A probably benign Het
Ctsd T C 7: 141,937,280 (GRCm39) probably null Het
D17H6S53E G T 17: 35,346,536 (GRCm39) R149L possibly damaging Het
Dync1i1 A G 6: 5,769,706 (GRCm39) T77A probably benign Het
Emc2 T C 15: 43,358,639 (GRCm39) M100T probably benign Het
Esrra A G 19: 6,889,863 (GRCm39) V290A probably benign Het
Fbl T C 7: 27,876,620 (GRCm39) I207T probably benign Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Gcc1 T A 6: 28,420,375 (GRCm39) N314I possibly damaging Het
Heatr1 G A 13: 12,448,806 (GRCm39) M1840I probably benign Het
Helz T C 11: 107,523,153 (GRCm39) L779P probably damaging Het
Impg1 T A 9: 80,289,064 (GRCm39) N331I probably damaging Het
Inmt C T 6: 55,150,270 (GRCm39) probably null Het
Inpp5a C T 7: 139,061,634 (GRCm39) T102M probably damaging Het
Lamc3 A G 2: 31,788,323 (GRCm39) Y161C probably benign Het
Lpin2 A G 17: 71,553,966 (GRCm39) *932W probably null Het
Lrp3 C T 7: 34,901,934 (GRCm39) R649H probably benign Het
Madd G A 2: 90,973,949 (GRCm39) T1464I probably damaging Het
Nceh1 C A 3: 27,293,777 (GRCm39) Y178* probably null Het
Or5ae2 A T 7: 84,506,086 (GRCm39) K172* probably null Het
Or5b96 T A 19: 12,867,989 (GRCm39) probably benign Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Ptchd4 A T 17: 42,627,604 (GRCm39) R22* probably null Het
Ptpru C T 4: 131,530,341 (GRCm39) G560S probably damaging Het
Ralgapb G T 2: 158,277,386 (GRCm39) R250L probably benign Het
Rcor1 T A 12: 111,076,228 (GRCm39) Y395* probably null Het
Slc35f6 G T 5: 30,805,410 (GRCm39) probably benign Het
Slc40a1 A G 1: 45,950,129 (GRCm39) V441A probably benign Het
Slc6a13 T A 6: 121,295,228 (GRCm39) F77Y probably damaging Het
Slc6a15 T A 10: 103,229,406 (GRCm39) C148* probably null Het
Sox10 T C 15: 79,040,640 (GRCm39) Y300C probably damaging Het
Tomm70a T A 16: 56,958,383 (GRCm39) probably benign Het
Tor4a A G 2: 25,085,537 (GRCm39) V122A probably benign Het
Tpi1 T C 6: 124,791,138 (GRCm39) Q33R probably benign Het
Unk T C 11: 115,940,184 (GRCm39) V179A probably benign Het
Ush2a G T 1: 188,365,787 (GRCm39) G2214C probably damaging Het
Vmn1r159 T A 7: 22,542,912 (GRCm39) Y40F probably benign Het
Wbp2nl T C 15: 82,192,748 (GRCm39) V144A probably benign Het
Wdpcp A G 11: 21,835,040 (GRCm39) E681G probably benign 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
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
Z1177:Gzmm UTSW 10 79,530,840 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AGTAGCCTGGCTTCTATCTGC -3'
(R):5'- GAATGTTAGTCCCACCCTCC -3'

Sequencing Primer
(F):5'- CTGTCCCCACAGCTAGATAGACG -3'
(R):5'- CTTCCACTCCCCAGGGTG -3'
Posted On 2022-03-25