Incidental Mutation 'R8420:Gzma'
ID 653160
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 067773-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R8420 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 113230359-113237515 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113237464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 8 (R8W)
Ref Sequence ENSEMBL: ENSMUSP00000023897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023897] [ENSMUST00000224282]
AlphaFold P11032
Predicted Effect probably benign
Transcript: ENSMUST00000023897
AA Change: R8W

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023897
Gene: ENSMUSG00000023132
AA Change: R8W

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Tryp_SPc 28 252 1.1e-80 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224282
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,937,746 (GRCm39) S11P unknown Het
Adrb2 T C 18: 62,312,004 (GRCm39) T274A probably damaging Het
Aph1b A G 9: 66,701,503 (GRCm39) S45P probably damaging Het
Atp9b A T 18: 80,887,806 (GRCm39) D321E Het
C1qbp A G 11: 70,869,543 (GRCm39) V180A possibly damaging Het
C4b G T 17: 34,953,513 (GRCm39) A990D probably damaging Het
Ccdc80 T A 16: 44,915,612 (GRCm39) S123T possibly damaging Het
Cdh18 A C 15: 23,474,138 (GRCm39) E669D possibly damaging Het
Ceacam3 T A 7: 16,895,608 (GRCm39) V526D Het
Cenpf C T 1: 189,404,782 (GRCm39) C349Y probably damaging Het
Dmrt2 T C 19: 25,655,379 (GRCm39) V326A probably damaging Het
Dock9 T C 14: 121,783,454 (GRCm39) Q2023R probably damaging Het
Exd2 A G 12: 80,522,771 (GRCm39) R77G probably benign Het
Exph5 A T 9: 53,287,148 (GRCm39) K1410* probably null Het
Eya2 A G 2: 165,608,988 (GRCm39) T443A probably damaging Het
Fam135a G A 1: 24,067,569 (GRCm39) T1100M probably benign Het
Foxp2 G T 6: 15,403,866 (GRCm39) R381L unknown Het
Grm7 T G 6: 111,057,315 (GRCm39) V305G probably benign Het
H6pd T C 4: 150,066,133 (GRCm39) E759G probably benign Het
Ift27 A G 15: 78,048,391 (GRCm39) V154A probably benign Het
Kif1a A T 1: 92,950,141 (GRCm39) S1429T probably benign Het
Lrrn1 T A 6: 107,546,294 (GRCm39) D697E probably benign Het
Mcrs1 A T 15: 99,141,575 (GRCm39) I387N probably damaging Het
Muc16 T C 9: 18,448,807 (GRCm39) T7675A probably damaging Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nid1 C A 13: 13,612,416 (GRCm39) L44I possibly damaging Het
Or2f2 A T 6: 42,767,644 (GRCm39) T224S possibly damaging Het
Or4m1 T C 14: 50,558,233 (GRCm39) T20A probably benign Het
Or5h27 A G 16: 59,006,117 (GRCm39) I243T unknown Het
Or8k1 T A 2: 86,047,457 (GRCm39) E199V probably damaging Het
Pde11a C T 2: 75,889,354 (GRCm39) D707N probably damaging Het
Pigf A T 17: 87,327,910 (GRCm39) L119* probably null Het
Pkd1l1 A T 11: 8,820,277 (GRCm39) C1679* probably null Het
Prnp A G 2: 131,778,669 (GRCm39) N107S probably benign Het
Ptgfr C T 3: 151,541,053 (GRCm39) V152M possibly damaging Het
Rap2b A G 3: 61,271,805 (GRCm39) probably benign Het
Rtn4 A G 11: 29,657,300 (GRCm39) T485A probably damaging Het
Sec23b A G 2: 144,401,234 (GRCm39) T32A probably benign Het
Skint5 A T 4: 113,437,679 (GRCm39) probably null Het
Slc13a5 A G 11: 72,148,210 (GRCm39) L275P probably damaging Het
Slc20a1 C T 2: 129,041,784 (GRCm39) A49V probably damaging Het
Slc35g2 A G 9: 100,435,224 (GRCm39) I149T probably benign Het
Syk T A 13: 52,778,763 (GRCm39) I283K probably benign Het
Taf7l2 T C 10: 115,948,440 (GRCm39) Y362C probably benign Het
Tnfsf13b G A 8: 10,056,795 (GRCm39) probably benign Het
Ubr1 A G 2: 120,701,476 (GRCm39) V1592A probably benign Het
Vopp1 T C 6: 57,739,379 (GRCm39) *123W probably null Het
Xpo4 T A 14: 57,841,913 (GRCm39) Q467H probably damaging Het
Zdhhc22 A C 12: 87,035,143 (GRCm39) V103G possibly damaging Het
Zfp868 A G 8: 70,064,160 (GRCm39) S392P 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
R4389:Gzma UTSW 13 113,234,922 (GRCm39) splice site probably null
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
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'- ATGCTAAGTGTTCCCAGGC -3'
(R):5'- GGAGGCTACAAACCTCCATCTC -3'

Sequencing Primer
(F):5'- CTAAGTGTTCCCAGGCTTTGAG -3'
(R):5'- CAGCACTACTGCAGGTGAG -3'
Posted On 2020-10-20