Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03408:Gzmc'

421662

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gzmc

Ensembl Gene

ENSMUSG00000079186

Gene Name

granzyme C

Synonyms

Ctla5, CCP2, Ctla-5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL03408

Quality Score

Status

Chromosome

Chromosomal Location

56468898-56472113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56471473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 23 (G23R)

Ref Sequence

ENSEMBL: ENSMUSP00000015585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015585]

AlphaFold

P08882

PDB Structure

Structure of GrC [X-RAY DIFFRACTION]
Structure of GrC mutant E192R/E193G [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000015585
AA Change: G23R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000015585
Gene: ENSMUSG00000079186
AA Change: G23R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	20	241	2.05e-80	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate a mature protein product. This product, expressed by activated T cells, may induce apoptosis of target cells. This gene is present in a gene cluster with other members of the granzyme subfamily on chromosome 14. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,303,954 (GRCm39)	F2108I	probably damaging	Het
Aco2	T	C	15: 81,783,424 (GRCm39)		probably null	Het
Ccdc186	T	C	19: 56,787,163 (GRCm39)	K602E	probably benign	Het
Ccdc85a	T	A	11: 28,526,528 (GRCm39)	H360L	probably damaging	Het
Cited2	A	G	10: 17,600,148 (GRCm39)	H152R	possibly damaging	Het
Cluh	C	A	11: 74,556,779 (GRCm39)	R940S	probably benign	Het
Corin	T	A	5: 72,500,304 (GRCm39)	Y432F	probably benign	Het
Creb1	A	G	1: 64,615,491 (GRCm39)		probably null	Het
Dhx15	A	T	5: 52,317,654 (GRCm39)	D568E	probably damaging	Het
Efcab3	T	A	11: 104,601,447 (GRCm39)	S253R	probably benign	Het
Esam	G	T	9: 37,445,949 (GRCm39)	R162S	possibly damaging	Het
Fat3	T	A	9: 15,909,253 (GRCm39)	K2250*	probably null	Het
Fbxl17	G	A	17: 63,387,541 (GRCm39)	R133*	probably null	Het
Idh3a	A	G	9: 54,504,206 (GRCm39)	N189D	probably benign	Het
Il31ra	A	T	13: 112,662,422 (GRCm39)	D462E	probably benign	Het
Inava	T	C	1: 136,142,143 (GRCm39)	Y652C	probably benign	Het
Inpp5j	G	A	11: 3,452,809 (GRCm39)	A147V	possibly damaging	Het
Kalrn	G	A	16: 34,134,546 (GRCm39)	A412V	probably damaging	Het
Lrp1b	A	G	2: 40,748,594 (GRCm39)	V2968A	probably damaging	Het
Morc1	G	A	16: 48,262,775 (GRCm39)	G42R	probably damaging	Het
Notch4	T	C	17: 34,784,542 (GRCm39)	L85P	probably benign	Het
Or4c52	G	A	2: 89,845,915 (GRCm39)	V214M	probably benign	Het
Or5p73	A	T	7: 108,064,554 (GRCm39)	N8Y	probably damaging	Het
Parp4	T	A	14: 56,839,865 (GRCm39)	H524Q	probably damaging	Het
Pole	T	C	5: 110,442,426 (GRCm39)	F285L	probably damaging	Het
Scn9a	A	G	2: 66,357,091 (GRCm39)	M1070T	probably benign	Het
Slc25a32	G	A	15: 38,963,425 (GRCm39)	A132V	probably benign	Het
Sult2a2	T	G	7: 13,472,154 (GRCm39)	I117S	probably damaging	Het
Suv39h2	T	C	2: 3,460,913 (GRCm39)	N183S	probably damaging	Het
Trhr2	G	A	8: 123,085,534 (GRCm39)	T150M	probably damaging	Het
Usp34	T	A	11: 23,396,957 (GRCm39)	F614I	possibly damaging	Het
Vmn2r17	A	G	5: 109,577,238 (GRCm39)		probably benign	Het
Wfdc2	T	A	2: 164,405,283 (GRCm39)	C61*	probably null	Het
Zfp384	T	C	6: 125,012,676 (GRCm39)	S377P	probably damaging	Het
Zfp945	A	T	17: 23,071,511 (GRCm39)	Y150*	probably null	Het

Other mutations in Gzmc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02132:Gzmc	APN	14	56,471,422 (GRCm39)	missense	probably benign	0.03
IGL02552:Gzmc	APN	14	56,472,039 (GRCm39)	start codon destroyed	probably null
IGL02974:Gzmc	APN	14	56,471,451 (GRCm39)	missense	probably damaging	1.00
R0133:Gzmc	UTSW	14	56,469,754 (GRCm39)	missense	possibly damaging	0.90
R0366:Gzmc	UTSW	14	56,470,193 (GRCm39)	nonsense	probably null
R1533:Gzmc	UTSW	14	56,471,376 (GRCm39)	missense	probably damaging	1.00
R1551:Gzmc	UTSW	14	56,470,203 (GRCm39)	missense	probably damaging	1.00
R1634:Gzmc	UTSW	14	56,469,737 (GRCm39)	missense	possibly damaging	0.66
R1686:Gzmc	UTSW	14	56,471,341 (GRCm39)	missense	probably benign	0.00
R2398:Gzmc	UTSW	14	56,470,228 (GRCm39)	missense	possibly damaging	0.93
R4730:Gzmc	UTSW	14	56,469,089 (GRCm39)	missense	probably damaging	1.00
R4971:Gzmc	UTSW	14	56,469,826 (GRCm39)	missense	probably damaging	0.97
R4987:Gzmc	UTSW	14	56,468,997 (GRCm39)	missense	probably damaging	0.99
R5166:Gzmc	UTSW	14	56,471,433 (GRCm39)	missense	probably damaging	1.00
R6237:Gzmc	UTSW	14	56,471,486 (GRCm39)	critical splice acceptor site	probably null
R7494:Gzmc	UTSW	14	56,469,785 (GRCm39)	nonsense	probably null
R7846:Gzmc	UTSW	14	56,469,017 (GRCm39)	missense	probably damaging	1.00
R7849:Gzmc	UTSW	14	56,469,829 (GRCm39)	missense	probably benign
R8183:Gzmc	UTSW	14	56,470,164 (GRCm39)	missense	probably damaging	1.00
R9570:Gzmc	UTSW	14	56,469,042 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02