Mutagenetix > Incidental Mutation

Incidental Mutation 'R5892:Gzmk'

457261

Institutional Source

Beutler Lab

Gene Symbol

Gzmk

Ensembl Gene

ENSMUSG00000042385

Gene Name

granzyme K

Synonyms

MMRRC Submission

044093-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5892 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113308164-113317499 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 113310456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038212] [ENSMUST00000122399] [ENSMUST00000140324]

AlphaFold

O35205

Predicted Effect

probably null
Transcript: ENSMUST00000038212

SMART Domains

Protein: ENSMUSP00000044512
Gene: ENSMUSG00000042385

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Tryp_SPc	25	253	2.12e-87	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000122399

SMART Domains

Protein: ENSMUSP00000113530
Gene: ENSMUSG00000042385

Domain	Start	End	E-Value	Type
Tryp_SPc	1	214	9.28e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140324

SMART Domains

Protein: ENSMUSP00000114250
Gene: ENSMUSG00000042385

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Trypsin	26	69	1.2e-18	PFAM

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

98% (56/57)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	G	T	5: 100,127,124 (GRCm39)		probably benign	Het
Abcb11	C	T	2: 69,091,844 (GRCm39)	A893T	probably damaging	Het
Adtrp	A	T	13: 41,981,682 (GRCm39)	N30K	probably benign	Het
Alms1	T	A	6: 85,597,885 (GRCm39)	S904T	probably damaging	Het
Cep170	T	A	1: 176,582,953 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,946,994 (GRCm39)	V145A	probably damaging	Het
Dclre1a	T	C	19: 56,535,572 (GRCm39)	E4G	probably benign	Het
Depdc1a	G	C	3: 159,232,306 (GRCm39)	A686P	probably damaging	Het
Dnah7b	T	C	1: 46,376,753 (GRCm39)		probably null	Het
Enox1	A	G	14: 77,723,457 (GRCm39)		probably benign	Het
Fam107b	A	G	2: 3,779,601 (GRCm39)	E268G	probably damaging	Het
Fer1l6	A	G	15: 58,435,917 (GRCm39)	S437G	probably benign	Het
Flnb	C	A	14: 7,907,183 (GRCm38)	T1252K	probably damaging	Het
Fubp1	A	G	3: 151,923,951 (GRCm39)		probably benign	Het
Gm20402	G	A	3: 52,176,370 (GRCm39)	A50T	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Ino80	A	T	2: 119,270,028 (GRCm39)		probably benign	Het
Ints8	T	C	4: 11,223,813 (GRCm39)	T677A	probably damaging	Het
Kat6a	A	G	8: 23,428,305 (GRCm39)	E1220G	probably damaging	Het
Lrfn5	A	G	12: 61,890,204 (GRCm39)	T498A	probably damaging	Het
Lrp2	T	A	2: 69,273,120 (GRCm39)	T4043S	probably benign	Het
Malrd1	A	G	2: 15,619,078 (GRCm39)	N314S	probably benign	Het
Mfsd1	A	G	3: 67,497,162 (GRCm39)		probably null	Het
Muc1	C	T	3: 89,138,300 (GRCm39)	P381S	probably benign	Het
Myh2	A	T	11: 67,076,002 (GRCm39)	K730*	probably null	Het
Nat3	T	A	8: 68,000,590 (GRCm39)	N156K	probably benign	Het
Nelfe	T	C	17: 35,073,645 (GRCm39)		probably benign	Het
Nlrp1a	A	T	11: 70,990,471 (GRCm39)	L927Q	probably damaging	Het
P4ha2	A	G	11: 54,011,014 (GRCm39)	Y343C	probably damaging	Het
Pclo	A	T	5: 14,571,185 (GRCm39)	Q190L	probably damaging	Het
Pde8a	A	G	7: 80,945,439 (GRCm39)	N183S	probably damaging	Het
Plekha2	C	T	8: 25,542,381 (GRCm39)	V278I	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plxnb1	T	C	9: 108,940,775 (GRCm39)	L1550P	probably damaging	Het
Ppox	C	T	1: 171,105,034 (GRCm39)	V385I	probably damaging	Het
Prdm16	T	C	4: 154,407,716 (GRCm39)	D1170G	possibly damaging	Het
Prmt5	A	T	14: 54,747,368 (GRCm39)	S470T	probably damaging	Het
Robo2	T	A	16: 73,692,668 (GRCm39)		probably benign	Het
Siglecg	G	A	7: 43,061,628 (GRCm39)		probably benign	Het
Slc30a5	T	C	13: 100,949,810 (GRCm39)	N367S	probably damaging	Het
Tex29	C	T	8: 11,904,288 (GRCm39)		probably benign	Het
Tmem117	T	A	15: 94,536,020 (GRCm39)	V18E	probably damaging	Het
Tmtc2	C	T	10: 105,249,366 (GRCm39)	M122I	probably benign	Het
Tpr	T	A	1: 150,283,151 (GRCm39)	N287K	probably benign	Het
Unc93b1	A	T	19: 3,993,632 (GRCm39)	D358V	probably damaging	Het
Vrk2	A	T	11: 26,484,372 (GRCm39)		probably benign	Het
Wdr24	A	T	17: 26,046,960 (GRCm39)	Q671L	probably benign	Het
Zfp110	C	T	7: 12,582,405 (GRCm39)	T351I	probably benign	Het
Zfp963	T	C	8: 70,196,027 (GRCm39)	D142G	probably benign	Het

Other mutations in Gzmk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AGCATTTCCTGTGGATCCTTG -3'
(R):5'- TCAGGCCATCACCGTGTTAC -3'

Sequencing Primer
(F):5'- ACCTGTTGCTCTTCTATATAGTGAG -3'
(R):5'- ATCACCGTGTTACCTCCATTTTC -3'

Posted On

2017-02-15