Incidental Mutation 'R8027:Gzmk'
ID 617783
Institutional Source Beutler Lab
Gene Symbol Gzmk
Ensembl Gene ENSMUSG00000042385
Gene Name granzyme K
Synonyms
MMRRC Submission 067466-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8027 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 113308164-113317499 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 113308434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 256 (K256*)
Ref Sequence ENSEMBL: ENSMUSP00000044512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038212] [ENSMUST00000122399] [ENSMUST00000140324]
AlphaFold O35205
Predicted Effect probably null
Transcript: ENSMUST00000038212
AA Change: K256*
SMART Domains Protein: ENSMUSP00000044512
Gene: ENSMUSG00000042385
AA Change: K256*

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Tryp_SPc 25 253 2.12e-87 SMART
Predicted Effect probably null
Transcript: ENSMUST00000122399
AA Change: K217*
SMART Domains Protein: ENSMUSP00000113530
Gene: ENSMUSG00000042385
AA Change: K217*

DomainStartEndE-ValueType
Tryp_SPc 1 214 9.28e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140324
SMART Domains Protein: ENSMUSP00000114250
Gene: ENSMUSG00000042385

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Trypsin 26 69 1.2e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (47/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 C T 3: 40,888,158 (GRCm39) T334I probably benign Het
Adam5 T C 8: 25,272,574 (GRCm39) N527S probably damaging Het
Aldh5a1 A T 13: 25,110,093 (GRCm39) Y147* probably null Het
Astn2 A C 4: 65,459,208 (GRCm39) V1121G possibly damaging Het
Atr T A 9: 95,747,809 (GRCm39) Y364N probably damaging Het
Bmpr2 T A 1: 59,906,962 (GRCm39) L685H probably damaging Het
C2cd5 A G 6: 143,024,046 (GRCm39) L248P possibly damaging Het
Calcoco2 A T 11: 95,991,241 (GRCm39) probably benign Het
Cog1 T C 11: 113,543,215 (GRCm39) L241P probably damaging Het
Fam107a A T 14: 8,298,813 (GRCm38) probably benign Het
Fam161a A T 11: 22,970,125 (GRCm39) K101M probably damaging Het
Fancd2 C T 6: 113,523,583 (GRCm39) T240I probably damaging Het
Fbxl8 C T 8: 105,994,758 (GRCm39) T90I probably benign Het
Fndc3a A G 14: 72,790,983 (GRCm39) V998A probably benign Het
Fut1 G A 7: 45,268,289 (GRCm39) G81E probably damaging Het
Gapdh A G 6: 125,139,331 (GRCm39) V285A probably benign Het
Gm5591 T C 7: 38,221,722 (GRCm39) T116A probably damaging Het
Grhl2 A G 15: 37,279,727 (GRCm39) E145G probably benign Het
Grik1 T G 16: 87,732,893 (GRCm39) T660P Het
Hsp90b1 A G 10: 86,532,594 (GRCm39) S361P probably damaging Het
Inpp5f T C 7: 128,292,397 (GRCm39) S645P probably damaging Het
Izumo1 T C 7: 45,275,678 (GRCm39) V329A probably benign Het
Leng8 CT C 7: 4,145,855 (GRCm39) probably null Het
Lrba T A 3: 86,325,219 (GRCm39) D1892E probably benign Het
Lztr1 T C 16: 17,329,976 (GRCm39) S101P probably damaging Het
Mark4 T C 7: 19,181,164 (GRCm39) D145G possibly damaging Het
Nudt9 T A 5: 104,212,793 (GRCm39) probably benign Het
Or55b10 T A 7: 102,143,629 (GRCm39) I118F probably damaging Het
Pcdhb9 T C 18: 37,536,069 (GRCm39) S688P possibly damaging Het
Prpf40a A G 2: 53,081,150 (GRCm39) M17T probably benign Het
Psg29 G A 7: 16,942,565 (GRCm39) V189M possibly damaging Het
Ptprm T C 17: 67,251,200 (GRCm39) Y559C probably damaging Het
Rimoc1 T C 15: 4,015,694 (GRCm39) Q290R probably benign Het
Scn10a T C 9: 119,462,856 (GRCm39) Y1060C probably damaging Het
Sh3pxd2b C T 11: 32,372,210 (GRCm39) T459M probably benign Het
Skint4 G T 4: 112,015,182 (GRCm39) probably null Het
Skint8 T A 4: 111,785,936 (GRCm39) D127E probably benign Het
Slc13a2 T A 11: 78,295,582 (GRCm39) M95L probably benign Het
Slc5a2 A G 7: 127,869,718 (GRCm39) M384V probably damaging Het
Timd5 T C 11: 46,428,744 (GRCm39) I222T probably benign Het
Tmem198 A T 1: 75,456,706 (GRCm39) probably benign Het
Ttn A G 2: 76,727,060 (GRCm39) I5835T unknown Het
Tulp3 T C 6: 128,311,436 (GRCm39) D73G probably benign Het
Ube2e2 A C 14: 18,574,317 (GRCm38) W195G possibly damaging Het
Utp25 A G 1: 192,800,530 (GRCm39) V430A probably benign Het
Wwp2 C A 8: 108,282,109 (GRCm39) H768N 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
R2993:Gzmk UTSW 13 113,317,011 (GRCm39) missense probably damaging 1.00
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
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'- GTTTCTTGACATCCATGCAGAC -3'
(R):5'- GCTTGTCGCTAAGTATCTGCC -3'

Sequencing Primer
(F):5'- AGCATGGCTCCCTAACTAAATG -3'
(R):5'- GTCGCTAAGTATCTGCCCATTTTC -3'
Posted On 2020-01-23