Incidental Mutation 'R5131:Gzmk'
ID 395018
Institutional Source Beutler Lab
Gene Symbol Gzmk
Ensembl Gene ENSMUSG00000042385
Gene Name granzyme K
Synonyms
MMRRC Submission 042719-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5131 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 113308164-113317499 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 113310482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 73 (A73E)
Ref Sequence ENSEMBL: ENSMUSP00000113530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038212] [ENSMUST00000122399] [ENSMUST00000140324]
AlphaFold O35205
Predicted Effect probably benign
Transcript: ENSMUST00000038212
AA Change: A112E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044512
Gene: ENSMUSG00000042385
AA Change: A112E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Tryp_SPc 25 253 2.12e-87 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122399
AA Change: A73E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113530
Gene: ENSMUSG00000042385
AA Change: A73E

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: 99.2%
  • 3x: 98.6%
  • 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.] 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C T 4: 40,163,797 (GRCm39) P17S probably benign Het
Arhgap35 A G 7: 16,245,112 (GRCm39) probably null Het
Brd3 A T 2: 27,343,427 (GRCm39) N480K probably benign Het
Ccnk T C 12: 108,168,890 (GRCm39) probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh1 T C 8: 107,390,430 (GRCm39) V590A possibly damaging Het
Cert1 A G 13: 96,751,343 (GRCm39) D331G probably damaging Het
Cic TCCCCC TCCCCCCCC 7: 24,991,095 (GRCm39) probably benign Het
Cmklr2 T A 1: 63,222,840 (GRCm39) S132C probably damaging Het
Cyp4a12a T A 4: 115,185,017 (GRCm39) D399E possibly damaging Het
Dnah11 A C 12: 117,918,486 (GRCm39) Y3482D probably damaging Het
Gtf3c3 A T 1: 54,458,657 (GRCm39) probably null Het
Hnrnpul1 A G 7: 25,426,219 (GRCm39) V444A probably benign Het
Lgr4 T C 2: 109,842,678 (GRCm39) S864P probably benign Het
Lrp2 A T 2: 69,260,686 (GRCm39) V4515E possibly damaging Het
Map3k19 A T 1: 127,751,427 (GRCm39) N641K possibly damaging Het
Mesp2 A G 7: 79,461,475 (GRCm39) T267A possibly damaging Het
Mipep T C 14: 61,140,823 (GRCm39) L682P probably damaging Het
Nalcn G T 14: 123,753,182 (GRCm39) T268K probably damaging Het
Ncam2 T C 16: 81,234,550 (GRCm39) V135A probably benign Het
Ndufaf6 G T 4: 11,060,931 (GRCm39) T215K probably damaging Het
Nr1h4 T C 10: 89,319,317 (GRCm39) D183G probably damaging Het
Pate9 C T 9: 36,446,242 (GRCm39) A57T possibly damaging Het
Pax2 G T 19: 44,749,394 (GRCm39) V41L probably damaging Het
Pde4dip T A 3: 97,616,830 (GRCm39) N1804I probably damaging Het
Phtf2 A T 5: 20,979,050 (GRCm39) V526E probably damaging Het
Ppp1ca G A 19: 4,244,895 (GRCm39) C291Y probably damaging Het
Prag1 G T 8: 36,607,123 (GRCm39) G955C probably damaging Het
Psap T A 10: 60,135,736 (GRCm39) V394E possibly damaging Het
Rap1b C T 10: 117,660,516 (GRCm39) V14I probably damaging Het
Rnf181 G A 6: 72,337,811 (GRCm39) probably null Het
Rsbn1l G A 5: 21,101,243 (GRCm39) R766C possibly damaging Het
Rusc2 C T 4: 43,414,948 (GRCm39) P85S probably benign Het
Rxfp1 T C 3: 79,559,471 (GRCm39) probably null Het
Serpinb6a T A 13: 34,102,855 (GRCm39) M202L probably benign Het
Snd1 T C 6: 28,885,049 (GRCm39) F800S probably damaging Het
Tbc1d2b G A 9: 90,091,812 (GRCm39) T830I probably damaging Het
Tmem209 A T 6: 30,497,166 (GRCm39) N183K probably benign Het
Tmtc3 T C 10: 100,284,841 (GRCm39) D598G probably damaging Het
Ube3b A G 5: 114,545,607 (GRCm39) D622G probably damaging Het
Zbtb43 A T 2: 33,344,778 (GRCm39) M112K 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
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'- CTTTCAGGAGAGGGTATGGGATAAC -3'
(R):5'- TTGGTCCTCCATGCAAGTGG -3'

Sequencing Primer
(F):5'- TGGGATAACGTGATCCTTCATAG -3'
(R):5'- ATGCAAGTGGCTCTGCATC -3'
Posted On 2016-06-21