Incidental Mutation 'R2993:Gzmk'
ID 257978
Institutional Source Beutler Lab
Gene Symbol Gzmk
Ensembl Gene ENSMUSG00000042385
Gene Name granzyme K
Synonyms
MMRRC Submission 040528-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2993 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 113308164-113317499 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113317011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 56 (I56T)
Ref Sequence ENSEMBL: ENSMUSP00000114250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038212] [ENSMUST00000122399] [ENSMUST00000140324]
AlphaFold O35205
Predicted Effect probably damaging
Transcript: ENSMUST00000038212
AA Change: I56T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044512
Gene: ENSMUSG00000042385
AA Change: I56T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Tryp_SPc 25 253 2.12e-87 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122399
AA Change: I17T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113530
Gene: ENSMUSG00000042385
AA Change: I17T

DomainStartEndE-ValueType
Tryp_SPc 1 214 9.28e-70 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000140324
AA Change: I56T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114250
Gene: ENSMUSG00000042385
AA Change: I56T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Trypsin 26 69 1.2e-18 PFAM
Meta Mutation Damage Score 0.8899 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (34/34)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. 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 lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik A G 3: 124,372,184 (GRCm39) W67R probably damaging Het
Abca16 T C 7: 120,134,384 (GRCm39) V1377A probably damaging Het
Adarb2 A C 13: 8,763,752 (GRCm39) I550L probably benign Het
Afdn T C 17: 14,111,262 (GRCm39) probably null Het
Ago1 G T 4: 126,333,839 (GRCm39) probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cdc7 G A 5: 107,121,764 (GRCm39) V226I probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cyp4a31 G A 4: 115,427,017 (GRCm39) V206I probably benign Het
Ddx47 G T 6: 134,995,944 (GRCm39) R120L probably damaging Het
Dnah7a G A 1: 53,542,713 (GRCm39) L2486F probably damaging Het
Eif3d A G 15: 77,845,905 (GRCm39) I372T possibly damaging Het
Eogt A T 6: 97,095,915 (GRCm39) probably null Het
Epb42 G A 2: 120,859,525 (GRCm39) probably benign Het
Fbxl2 T C 9: 113,818,484 (GRCm39) E159G possibly damaging Het
Gabrb2 T C 11: 42,488,476 (GRCm39) V314A probably damaging Het
Gpr15lg T A 14: 36,829,402 (GRCm39) H27L probably benign Het
Gtf2h3 T C 5: 124,721,997 (GRCm39) F32L probably benign Het
Katnbl1 G T 2: 112,238,963 (GRCm39) probably null Het
Klhdc4 G C 8: 122,533,320 (GRCm39) S118* probably null Het
Klrb1-ps1 A T 6: 129,097,992 (GRCm39) K73N probably benign Het
Lrp1 T C 10: 127,446,250 (GRCm39) D98G probably damaging Het
Lrrfip1 C A 1: 91,032,956 (GRCm39) D313E probably damaging Het
Misp3 A G 8: 84,738,213 (GRCm39) L34P probably damaging Het
Mmp21 C T 7: 133,280,715 (GRCm39) R85H probably damaging Het
Mrpl16 A G 19: 11,751,895 (GRCm39) I218M possibly damaging Het
Mtmr4 T A 11: 87,495,823 (GRCm39) V553D probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Spata31e2 A T 1: 26,724,909 (GRCm39) D90E possibly damaging Het
Vmn1r224 T A 17: 20,639,472 (GRCm39) S16R probably damaging Het
Vmn2r55 C T 7: 12,418,882 (GRCm39) A13T probably damaging Het
Zer1 A G 2: 29,991,909 (GRCm39) V637A probably damaging Het
Other mutations in Gzmk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00563:Gzmk APN 13 113,309,658 (GRCm39) missense probably benign 0.09
IGL01702:Gzmk APN 13 113,317,084 (GRCm39) missense probably damaging 1.00
IGL02869:Gzmk APN 13 113,308,560 (GRCm39) missense probably damaging 1.00
R1687:Gzmk UTSW 13 113,310,462 (GRCm39) missense probably benign 0.32
R1813:Gzmk UTSW 13 113,309,427 (GRCm39) missense probably damaging 1.00
R1896:Gzmk UTSW 13 113,309,427 (GRCm39) missense probably damaging 1.00
R2113:Gzmk UTSW 13 113,310,489 (GRCm39) missense probably benign 0.33
R2128:Gzmk UTSW 13 113,308,548 (GRCm39) missense probably damaging 0.99
R3936:Gzmk UTSW 13 113,309,559 (GRCm39) missense probably damaging 1.00
R4619:Gzmk UTSW 13 113,309,657 (GRCm39) missense probably damaging 0.99
R4838:Gzmk UTSW 13 113,309,555 (GRCm39) missense probably damaging 1.00
R5131:Gzmk UTSW 13 113,310,482 (GRCm39) missense probably benign
R5892:Gzmk UTSW 13 113,310,456 (GRCm39) critical splice donor site probably null
R6582:Gzmk UTSW 13 113,317,045 (GRCm39) missense probably damaging 1.00
R7491:Gzmk UTSW 13 113,308,535 (GRCm39) missense probably benign 0.36
R8027:Gzmk UTSW 13 113,308,434 (GRCm39) nonsense probably null
R8145:Gzmk UTSW 13 113,308,430 (GRCm39) missense probably damaging 1.00
X0025:Gzmk UTSW 13 113,317,367 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- AATTTCAGTTGCTTGCGGTC -3'
(R):5'- CTGCTATCAGAGGAACGAGATG -3'

Sequencing Primer
(F):5'- CAGTTGCTTGCGGTCCACTG -3'
(R):5'- ACGAGATGTCACTGCTGGATC -3'
Posted On 2015-01-11