Incidental Mutation 'R7771:Gzma'
ID 598594
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 045827-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R7771 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 113230359-113237515 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 113234829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 54 (C54Y)
Ref Sequence ENSEMBL: ENSMUSP00000023897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023897] [ENSMUST00000224282]
AlphaFold P11032
Predicted Effect probably damaging
Transcript: ENSMUST00000023897
AA Change: C54Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023897
Gene: ENSMUSG00000023132
AA Change: C54Y

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Tryp_SPc 28 252 1.1e-80 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000224282
AA Change: C51Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (56/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,069,535 (GRCm39) A1287T probably damaging Het
Ahnak A G 19: 8,992,411 (GRCm39) K4565R probably damaging Het
Asb13 A G 13: 3,699,463 (GRCm39) Y221C probably damaging Het
BB014433 C T 8: 15,092,395 (GRCm39) V153M probably damaging Het
Brip1 T C 11: 85,952,850 (GRCm39) E977G probably benign Het
C3 T A 17: 57,522,797 (GRCm39) D1029V probably damaging Het
Ccdc116 T C 16: 16,957,455 (GRCm39) E568G probably benign Het
Cdhr2 T C 13: 54,866,088 (GRCm39) V296A probably damaging Het
Cenpe A G 3: 134,946,702 (GRCm39) probably null Het
Cnot1 A G 8: 96,491,753 (GRCm39) V357A probably damaging Het
Coa3 A T 11: 101,169,641 (GRCm39) M38K possibly damaging Het
Cyp2d26 T C 15: 82,675,947 (GRCm39) N255S probably benign Het
Cysrt1 T C 2: 25,129,237 (GRCm39) S92G probably benign Het
D030056L22Rik A G 19: 18,690,842 (GRCm39) E52G possibly damaging Het
Derl1 T C 15: 57,743,436 (GRCm39) D97G probably damaging Het
Ebf3 A G 7: 136,911,092 (GRCm39) Y141H probably damaging Het
Eci1 T A 17: 24,652,125 (GRCm39) L49* probably null Het
Hydin A G 8: 111,291,717 (GRCm39) N3403S probably damaging Het
Ide T C 19: 37,275,525 (GRCm39) N495D Het
Ighv1-23 T A 12: 114,728,356 (GRCm39) Q22L probably benign Het
Itgb2l A G 16: 96,228,172 (GRCm39) C444R probably damaging Het
Kcnj3 C A 2: 55,336,949 (GRCm39) H272N probably damaging Het
Lrp6 C T 6: 134,439,579 (GRCm39) C1218Y probably damaging Het
Lrrd1 T C 5: 3,916,476 (GRCm39) M831T possibly damaging Het
Map3k11 A G 19: 5,740,636 (GRCm39) E121G probably damaging Het
Mzt1 A T 14: 99,278,012 (GRCm39) I52N probably damaging Het
Or1j11 T C 2: 36,312,156 (GRCm39) S249P possibly damaging Het
Or52z12 A G 7: 103,233,297 (GRCm39) I23V probably benign Het
Or7e166 T A 9: 19,624,767 (GRCm39) F215I probably benign Het
Pcdhb17 A C 18: 37,619,962 (GRCm39) Y584S possibly damaging Het
Per3 A T 4: 151,110,657 (GRCm39) D380E probably damaging Het
Per3 A T 4: 151,125,902 (GRCm39) L139Q probably damaging Het
Pgap6 T C 17: 26,341,047 (GRCm39) Y717H probably damaging Het
Pik3cg T C 12: 32,254,013 (GRCm39) H658R probably benign Het
Pitpnm3 G A 11: 71,952,314 (GRCm39) Q626* probably null Het
Polr3e T C 7: 120,539,801 (GRCm39) V542A probably benign Het
Rgs22 T A 15: 36,050,224 (GRCm39) H866L possibly damaging Het
Rnf150 A G 8: 83,590,832 (GRCm39) E65G probably benign Het
Sema3f C A 9: 107,569,625 (GRCm39) R100L possibly damaging Het
Skic3 A G 13: 76,283,149 (GRCm39) H792R probably benign Het
Smim18 T C 8: 34,232,370 (GRCm39) D83G possibly damaging Het
Snx13 T A 12: 35,174,527 (GRCm39) D685E probably benign Het
Stat5a A C 11: 100,754,045 (GRCm39) N125T probably benign Het
Stk24 T C 14: 121,575,045 (GRCm39) E21G probably damaging Het
Tasor A G 14: 27,189,516 (GRCm39) T923A probably damaging Het
Tlr3 C T 8: 45,856,076 (GRCm39) V35I probably benign Het
Tmprss11b A T 5: 86,809,554 (GRCm39) probably null Het
Trpm2 T C 10: 77,768,013 (GRCm39) I829V probably benign Het
Ttc39a T C 4: 109,288,647 (GRCm39) Y276H probably damaging Het
Vmn2r98 T A 17: 19,287,460 (GRCm39) probably null Het
Wdr73 G A 7: 80,542,975 (GRCm39) A211V probably benign Het
Zc3h4 T C 7: 16,163,824 (GRCm39) V673A unknown Het
Zfp382 A G 7: 29,832,760 (GRCm39) H137R probably damaging Het
Zp2 T G 7: 119,742,865 (GRCm39) D89A probably damaging Het
Zpld2 A T 4: 133,922,754 (GRCm39) N526K probably benign Het
Zranb3 A C 1: 127,960,605 (GRCm39) Y220D probably damaging Het
Zswim8 G A 14: 20,763,048 (GRCm39) V316I 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
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'- CCTTGTGACAAATCTGGGCTTAAC -3'
(R):5'- ATGCCTTGTTCCAGAAATGTGG -3'

Sequencing Primer
(F):5'- AGGCAGGTTGTCAAAGACTTCCC -3'
(R):5'- CCAGAAATGTGGCTTTCTTGAG -3'
Posted On 2019-11-26