Incidental Mutation 'R0965:Gzma'
ID 81616
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 039094-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R0965 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 113230359-113237515 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113234868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 38 (P38L)
Ref Sequence ENSEMBL: ENSMUSP00000153593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023897] [ENSMUST00000224282]
AlphaFold P11032
Predicted Effect probably damaging
Transcript: ENSMUST00000023897
AA Change: P41L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023897
Gene: ENSMUSG00000023132
AA Change: P41L

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: P38L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.1%
  • 20x: 94.5%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 AGAGGAGGAGGAGGAGGAGG AGAGGAGGAGGAGGAGG 4: 129,886,209 (GRCm39) probably benign Het
Amacr C T 15: 10,984,891 (GRCm39) R170C probably damaging Het
Bcl2 A T 1: 106,640,021 (GRCm39) L197Q probably benign Het
Brd1 G A 15: 88,601,231 (GRCm39) R468W probably damaging Het
Esco1 A G 18: 10,567,570 (GRCm39) F821L probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Mcc A G 18: 44,857,593 (GRCm39) L174P probably benign Het
Med19 A G 2: 84,508,793 (GRCm39) E2G probably damaging Het
Muc5b C T 7: 141,417,539 (GRCm39) T3495I possibly damaging Het
Nfatc4 T C 14: 56,064,043 (GRCm39) S107P probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or9g4b A G 2: 85,616,643 (GRCm39) S263G probably damaging Het
Phf11c T A 14: 59,618,931 (GRCm39) I285F probably damaging Het
Prkdc T C 16: 15,647,580 (GRCm39) V3668A probably benign Het
Rbm20 T C 19: 53,847,832 (GRCm39) F1126S probably damaging Het
Slc7a5 T C 8: 122,633,840 (GRCm39) E169G probably benign Het
Slco1b2 C A 6: 141,631,322 (GRCm39) T652K probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Tmem119 A C 5: 113,933,480 (GRCm39) V107G probably damaging Het
Ttn C A 2: 76,629,915 (GRCm39) G14205V probably damaging Het
Zc3h11a T C 1: 133,573,541 (GRCm39) N33S possibly damaging Het
Other mutations in Gzma
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:Gzma APN 13 113,230,418 (GRCm39) utr 3 prime probably benign
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
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'- AAGGCAGGTTGTCAAAGACTTCCC -3'
(R):5'- TTGCATAATCACCAGCAGCTCCTC -3'

Sequencing Primer
(F):5'- TCCATGTGTTAGCGAGATATAGTC -3'
(R):5'- TATAGCAACCACTGCTGGTGC -3'
Posted On 2013-11-08