|Institutional Source||Beutler Lab|
|Gene Name||granzyme M (lymphocyte met-ase 1)|
|Is this an essential gene?||Probably non essential (E-score: 0.066)|
|Stock #||R4804 (G1)|
|Chromosomal Location||79689020-79695261 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 79695056 bp|
|Amino Acid Change||Threonine to Serine at position 231 (T231S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020549 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020549]|
|Predicted Effect||probably benign
AA Change: T231S
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: T231S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (78/79)|
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||
|Other mutations in Gzmm||
(F):5'- ATCTGGGCCTAGAGCAAAGG -3'
(R):5'- TTATTGGTCCTCAGAGGCACAC -3'
(F):5'- CTAGAGCAAAGGCCCTGG -3'
(R):5'- GCACACCTAGTCCCTTCCCAG -3'