Mutagenetix > Incidental Mutations

Incidental Mutation 'R1687:Gzmk'

189451

Institutional Source

Beutler Lab

Gene Symbol

Gzmk

Ensembl Gene

ENSMUSG00000042385

Gene Name

granzyme K

Synonyms

MMRRC Submission

039720-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113171608-113225908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113173928 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 119 (I119L)

Ref Sequence

ENSEMBL: ENSMUSP00000044512 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000038212
AA Change: I119L

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044512
Gene: ENSMUSG00000042385
AA Change: I119L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000122399
AA Change: I80L

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113530
Gene: ENSMUSG00000042385
AA Change: I80L

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,293,888	F931I	probably benign	Het
Alox15	T	A	11: 70,349,918	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,537	V268D	probably benign	Het
Armc9	A	G	1: 86,156,955	M1V	probably null	Het
BB287469	A	G	12: 87,819,718	D133G	unknown	Het
Brca1	C	T	11: 101,489,840	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,736,759	V138A	probably benign	Het
Camsap1	A	G	2: 25,939,615	F699S	probably damaging	Het
Ccm2	A	G	11: 6,585,118	R67G	probably damaging	Het
Cdk16	G	A	X: 20,696,659		probably null	Het
Cep85	T	C	4: 134,148,013	H546R	probably benign	Het
Cfap54	T	C	10: 92,932,640	D207G	probably damaging	Het
Cldn9	G	T	17: 23,683,076	R192S	probably benign	Het
Crybb3	A	G	5: 113,079,767	S63P	probably damaging	Het
Cux1	A	G	5: 136,312,669	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 32,910,407		probably benign	Het
Dnah3	A	T	7: 120,045,786		probably null	Het
Eml6	G	A	11: 29,833,187	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,617,366	V610A	probably benign	Het
Fam234a	T	C	17: 26,215,308	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,227,106	V154I	probably benign	Het
Frem2	A	T	3: 53,653,952	W1045R	probably benign	Het
Fubp1	A	G	3: 152,228,201		probably benign	Het
Gja3	T	A	14: 57,036,876	N13I	probably damaging	Het
Gpr20	C	A	15: 73,695,902	V213L	probably benign	Het
Grk5	T	C	19: 61,076,783	I295T	probably damaging	Het
Gucy1b1	A	G	3: 82,038,042	F430L	probably damaging	Het
Hadh	T	C	3: 131,245,249	I153V	probably benign	Het
Hsfy2	T	C	1: 56,636,853	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,775,824	I560T	probably benign	Het
Igdcc4	T	C	9: 65,131,663	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,632,872	D216G	probably benign	Het
Klc2	G	A	19: 5,111,654	P303S	probably damaging	Het
Lama5	C	T	2: 180,194,066	V1192I	probably benign	Het
Mon2	A	G	10: 123,026,124	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,672,478	L96Q	probably damaging	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,520,585	I726T	probably damaging	Het
Ndnf	A	T	6: 65,703,423	T229S	probably benign	Het
Npas3	A	T	12: 54,048,875		probably null	Het
Nrap	C	T	19: 56,355,529	E729K	probably damaging	Het
Nsun2	T	A	13: 69,627,597	F387I	probably damaging	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 164,044,306	T452M	probably benign	Het
Pcdh10	T	C	3: 45,380,015	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,700,019	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,884,704		probably benign	Het
Pkp2	T	C	16: 16,268,709		probably null	Het
Ppard	A	G	17: 28,297,180	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,290,533	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,270,279	T287A	probably damaging	Het
Sema4b	T	C	7: 80,219,262	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,982,157	I640N	probably damaging	Het
Smurf2	C	A	11: 106,836,070		probably null	Het
Spag5	T	C	11: 78,304,929	V354A	probably benign	Het
Sptb	T	C	12: 76,603,699	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,981,250	L22F	probably benign	Het
Sugp2	T	C	8: 70,242,634	S86P	probably damaging	Het
Tnk1	T	C	11: 69,856,473	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,939,626	I541F	possibly damaging	Het
Trim36	G	T	18: 46,188,657	H108N	possibly damaging	Het
Ttn	T	C	2: 76,870,907		probably benign	Het
Usp28	T	A	9: 49,024,017	S89R	probably benign	Het
Vmn2r121	T	C	X: 124,132,791	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,940,818	Y630F	probably benign	Het
Washc2	T	A	6: 116,256,712	S900T	probably benign	Het
Wdr72	A	G	9: 74,210,199	N731S	probably benign	Het
Xrra1	T	A	7: 99,876,244	F123L	probably damaging	Het
Zfp648	A	G	1: 154,204,242	D49G	probably benign	Het

Other mutations in Gzmk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Gzmk	APN	13	113173124	missense	probably benign	0.09
IGL01702:Gzmk	APN	13	113180550	missense	probably damaging	1.00
IGL02869:Gzmk	APN	13	113172026	missense	probably damaging	1.00
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
R8145:Gzmk	UTSW	13	113171896	missense	probably damaging	1.00
X0025:Gzmk	UTSW	13	113180833	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCTCCATTTGGACTGGACAAAG -3'
(R):5'- AAGGTCAGGCCATCACCGTGTTAC -3'

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

Posted On

2014-05-14