Incidental Mutation 'IGL01702:Gzmk'
ID104509
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gzmk
Ensembl Gene ENSMUSG00000042385
Gene Namegranzyme K
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01702
Quality Score
Status
Chromosome13
Chromosomal Location113171608-113225908 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 113180550 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 32 (V32I)
Ref Sequence ENSEMBL: ENSMUSP00000114250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038212] [ENSMUST00000122399] [ENSMUST00000140324]
Predicted Effect probably damaging
Transcript: ENSMUST00000038212
AA Change: V32I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044512
Gene: ENSMUSG00000042385
AA Change: V32I

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Tryp_SPc 25 253 2.12e-87 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122399
SMART Domains Protein: ENSMUSP00000113530
Gene: ENSMUSG00000042385

DomainStartEndE-ValueType
Tryp_SPc 1 214 9.28e-70 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000140324
AA Change: V32I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114250
Gene: ENSMUSG00000042385
AA Change: V32I

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Trypsin 26 69 1.2e-18 PFAM
Coding Region Coverage
Validation Efficiency
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7a T C 15: 77,389,686 probably null Het
Asb2 C T 12: 103,335,905 G128E possibly damaging Het
Atp11c A T X: 60,269,903 S683T probably damaging Het
Brinp3 A G 1: 146,751,997 probably benign Het
Cpeb3 A T 19: 37,126,382 M369K possibly damaging Het
Exoc5 A T 14: 49,015,615 C580* probably null Het
Gm9956 A G 10: 56,745,239 Het
Hsf4 T C 8: 105,271,589 I129T probably damaging Het
Igkv1-115 T A 6: 68,161,532 W40R probably damaging Het
Iqub A T 6: 24,500,313 M314K probably benign Het
Krt83 T C 15: 101,491,218 T78A probably benign Het
Med28 T C 5: 45,525,291 S100P probably benign Het
Prx G A 7: 27,519,787 V1238I probably benign Het
Ptprq T C 10: 107,517,866 N2263S probably benign Het
Rab12 A G 17: 66,519,389 F61S probably damaging Het
Serpinb9d T C 13: 33,203,023 F358S probably damaging Het
Slc25a3 A T 10: 91,118,125 Y242N probably damaging Het
Smtnl1 T C 2: 84,818,690 I73M possibly damaging Het
Tnp1 C A 1: 73,015,718 probably benign Het
Trim5 T C 7: 104,279,431 E101G probably damaging Het
Other mutations in Gzmk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00563:Gzmk APN 13 113173124 missense probably benign 0.09
IGL02869:Gzmk APN 13 113172026 missense probably damaging 1.00
R1687:Gzmk UTSW 13 113173928 missense probably benign 0.32
R1813:Gzmk UTSW 13 113172893 missense probably damaging 1.00
R1896:Gzmk UTSW 13 113172893 missense probably damaging 1.00
R2113:Gzmk UTSW 13 113173955 missense probably benign 0.33
R2128:Gzmk UTSW 13 113172014 missense probably damaging 0.99
R2993:Gzmk UTSW 13 113180477 missense probably damaging 1.00
R3936:Gzmk UTSW 13 113173025 missense probably damaging 1.00
R4619:Gzmk UTSW 13 113173123 missense probably damaging 0.99
R4838:Gzmk UTSW 13 113173021 missense probably damaging 1.00
R5131:Gzmk UTSW 13 113173948 missense probably benign
R5892:Gzmk UTSW 13 113173922 critical splice donor site probably null
R6582:Gzmk UTSW 13 113180511 missense probably damaging 1.00
R7491:Gzmk UTSW 13 113172001 missense probably benign 0.36
R8027:Gzmk UTSW 13 113171900 nonsense probably null
X0025:Gzmk UTSW 13 113180833 splice site probably null
Posted On2014-01-21