Incidental Mutation 'R4389:Gzma'
ID 326340
Institutional Source Beutler Lab
Gene Symbol Gzma
Ensembl Gene ENSMUSG00000023132
Gene Name granzyme A
Synonyms Ctla3, Hf, Hanukah factor, H factor, BLT esterase, TSP1, Ctla-3, SE1, TSP-1, serine esterase 1
MMRRC Submission 041126-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R4389 (G1)
Quality Score 137
Status Validated
Chromosome 13
Chromosomal Location 113230359-113237515 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 113234922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023897] [ENSMUST00000224282]
AlphaFold P11032
Predicted Effect probably null
Transcript: ENSMUST00000023897
SMART Domains Protein: ENSMUSP00000023897
Gene: ENSMUSG00000023132

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Tryp_SPc 28 252 1.1e-80 SMART
Predicted Effect probably null
Transcript: ENSMUST00000224282
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.6%
  • 20x: 92.6%
Validation Efficiency 87% (26/30)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show normal T/NK cell-mediated cytotoxicity, recovery from LCM virus or L. monocytogenes infection, and control of syngeneic tumor growth. Homozygotes for a different null allele show defective CTL cytolysis and increased tumor burden upon challenge with RMAS cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,247,878 (GRCm39) T2542P probably damaging Het
Adprm C T 11: 66,929,019 (GRCm39) R324K probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cd209b A G 8: 3,975,960 (GRCm39) L67P probably damaging Het
Cfap54 T A 10: 92,803,362 (GRCm39) K1560M probably benign Het
Ctps1 T C 4: 120,415,987 (GRCm39) D212G probably damaging Het
Ercc6 T A 14: 32,296,865 (GRCm39) L1285* probably null Het
Kng2 T C 16: 22,843,618 (GRCm39) I120M possibly damaging Het
Lhx3 C T 2: 26,091,102 (GRCm39) probably benign Het
Mtfr1l T C 4: 134,259,953 (GRCm39) probably benign Het
Ndufb4 T C 16: 37,468,032 (GRCm39) N126S probably benign Het
Nlrp4e A G 7: 23,020,652 (GRCm39) I380V probably benign Het
Nptn A G 9: 58,551,055 (GRCm39) K361E probably damaging Het
Or5an1c A G 19: 12,218,503 (GRCm39) V174A probably damaging Het
Orc2 T C 1: 58,514,020 (GRCm39) D332G probably benign Het
Pcdha4 T C 18: 37,087,842 (GRCm39) V675A probably benign Het
Rpl7a-ps3 G A 15: 36,308,429 (GRCm39) noncoding transcript Het
Slc13a1 A T 6: 24,092,397 (GRCm39) probably null Het
Tec A G 5: 72,939,350 (GRCm39) Y222H probably benign Het
Ttll2 T A 17: 7,618,599 (GRCm39) R443* probably null Het
Vmn1r66 A T 7: 10,008,715 (GRCm39) L106* probably null Het
Zfp189 A G 4: 49,529,934 (GRCm39) R346G probably damaging Het
Other mutations in Gzma
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:Gzma APN 13 113,230,418 (GRCm39) utr 3 prime probably benign
R0965:Gzma UTSW 13 113,234,868 (GRCm39) missense probably damaging 1.00
R1411:Gzma UTSW 13 113,232,742 (GRCm39) missense probably benign 0.13
R1597:Gzma UTSW 13 113,232,331 (GRCm39) missense probably damaging 1.00
R1838:Gzma UTSW 13 113,232,518 (GRCm39) missense probably damaging 0.99
R1950:Gzma UTSW 13 113,230,463 (GRCm39) missense probably damaging 1.00
R4153:Gzma UTSW 13 113,232,802 (GRCm39) missense possibly damaging 0.92
R5370:Gzma UTSW 13 113,232,329 (GRCm39) missense probably damaging 1.00
R5643:Gzma UTSW 13 113,234,794 (GRCm39) missense probably damaging 1.00
R5644:Gzma UTSW 13 113,234,794 (GRCm39) missense probably damaging 1.00
R7771:Gzma UTSW 13 113,234,829 (GRCm39) missense probably damaging 1.00
R7798:Gzma UTSW 13 113,232,858 (GRCm39) missense probably benign 0.06
R8420:Gzma UTSW 13 113,237,464 (GRCm39) missense probably benign 0.00
R9079:Gzma UTSW 13 113,232,858 (GRCm39) missense probably benign 0.02
R9165:Gzma UTSW 13 113,237,455 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GGCAGGTTGTCAAAGACTTCC -3'
(R):5'- GCCCAAAAGGGTCAAGACTTAG -3'

Sequencing Primer
(F):5'- TCCATGTGTTAGCGAGATATAGTC -3'
(R):5'- CTTAGGGTGAGACTTCAGGACTAC -3'
Posted On 2015-07-06