Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02552:Gzmc'

298134

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: 0.056) question?

Stock #

IGL02552

Quality Score

Status

Chromosome

Chromosomal Location

56468898-56472113 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 56472039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

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 null
Transcript: ENSMUST00000015585
AA Change: M1V

SMART Domains

Protein: ENSMUSP00000015585
Gene: ENSMUSG00000079186
AA Change: M1V

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,208,145 (GRCm39)	L178S	probably damaging	Het
Abca12	A	G	1: 71,333,906 (GRCm39)	Y1199H	probably damaging	Het
Abcc9	T	C	6: 142,551,645 (GRCm39)	D1221G	possibly damaging	Het
Apc	T	A	18: 34,446,035 (GRCm39)	M977K	possibly damaging	Het
Arhgap30	T	A	1: 171,235,324 (GRCm39)	L566Q	probably damaging	Het
Arhgap40	T	A	2: 158,388,721 (GRCm39)	W552R	probably benign	Het
Astn1	C	T	1: 158,332,965 (GRCm39)	S349F	possibly damaging	Het
Bard1	T	C	1: 71,104,815 (GRCm39)		probably benign	Het
Batf2	T	A	19: 6,221,537 (GRCm39)	Y116N	probably benign	Het
Bltp3b	T	A	10: 89,642,605 (GRCm39)	L10*	probably null	Het
Cbx6	T	C	15: 79,713,094 (GRCm39)	H111R	probably damaging	Het
Cd44	T	A	2: 102,679,076 (GRCm39)	N242I	probably benign	Het
Cdnf	C	T	2: 3,525,012 (GRCm39)	Q184*	probably null	Het
Chd2	C	A	7: 73,097,068 (GRCm39)		probably benign	Het
Cmtm6	G	A	9: 114,566,374 (GRCm39)	V88M	probably damaging	Het
Col24a1	C	A	3: 145,179,962 (GRCm39)	S1151R	possibly damaging	Het
Csta2	A	G	16: 36,073,459 (GRCm39)	E15G	probably damaging	Het
Degs1l	T	A	1: 180,882,463 (GRCm39)	V75E	possibly damaging	Het
Dnajc2	T	C	5: 21,988,061 (GRCm39)	D6G	probably damaging	Het
Eif3a	G	A	19: 60,751,664 (GRCm39)		probably benign	Het
Fbn1	C	A	2: 125,254,633 (GRCm39)	C210F	possibly damaging	Het
Fmn2	T	A	1: 174,523,286 (GRCm39)	D1380E	probably damaging	Het
Fry	A	T	5: 150,304,375 (GRCm39)	K588N	probably damaging	Het
Gm18856	G	A	13: 14,139,805 (GRCm39)		probably benign	Het
Gpr37	G	T	6: 25,688,686 (GRCm39)	T137K	probably benign	Het
Htr5a	T	C	5: 28,047,958 (GRCm39)	V171A	probably benign	Het
Ints6l	T	C	X: 55,500,557 (GRCm39)		probably benign	Het
Kcnma1	C	T	14: 23,436,327 (GRCm39)		probably null	Het
Krt35	C	T	11: 99,983,899 (GRCm39)	G367D	probably benign	Het
Nlrp1b	C	T	11: 71,063,057 (GRCm39)	V668I	possibly damaging	Het
Nlrp1b	C	T	11: 71,072,878 (GRCm39)	V322I	possibly damaging	Het
Ntf3	T	C	6: 126,078,823 (GRCm39)	N228D	probably damaging	Het
Nup133	G	A	8: 124,655,994 (GRCm39)	R496W	possibly damaging	Het
Or4c10	T	C	2: 89,760,903 (GRCm39)	V250A	probably benign	Het
Or51i1	C	A	7: 103,671,463 (GRCm39)	G21W	probably damaging	Het
Pah	C	T	10: 87,414,707 (GRCm39)		probably benign	Het
Pan2	G	T	10: 128,154,896 (GRCm39)	W1112L	probably damaging	Het
Pkn3	G	A	2: 29,970,879 (GRCm39)	R209Q	probably damaging	Het
Plaa	C	T	4: 94,470,717 (GRCm39)		probably null	Het
Qprt	C	T	7: 126,708,027 (GRCm39)	A135T	probably damaging	Het
Rbbp6	T	G	7: 122,582,204 (GRCm39)	S108A	probably damaging	Het
Smg1	T	A	7: 117,795,117 (GRCm39)		probably benign	Het
Spink5	T	A	18: 44,125,235 (GRCm39)	C368S	possibly damaging	Het
Sptan1	T	A	2: 29,908,486 (GRCm39)	I1734N	probably damaging	Het
Stk38l	C	T	6: 146,669,031 (GRCm39)	L170F	probably damaging	Het
Tesmin	C	T	19: 3,452,483 (GRCm39)		probably benign	Het
Tjp1	A	T	7: 64,949,530 (GRCm39)	C1697*	probably null	Het
Tmco4	T	C	4: 138,785,690 (GRCm39)	S587P	probably benign	Het
Tmem208	G	A	8: 106,055,329 (GRCm39)		probably null	Het
Trim30d	T	C	7: 104,121,623 (GRCm39)	Q224R	probably damaging	Het
Trpm7	T	A	2: 126,682,699 (GRCm39)	D390V	probably damaging	Het
Uba7	A	G	9: 107,858,589 (GRCm39)	I807V	probably benign	Het
Utp18	C	A	11: 93,759,160 (GRCm39)	C438F	probably damaging	Het
Vps13d	T	C	4: 144,899,707 (GRCm39)	K191E	possibly damaging	Het
Wdr27	A	G	17: 15,146,453 (GRCm39)	S181P	probably damaging	Het
Zfp462	T	C	4: 55,010,613 (GRCm39)	Y860H	probably damaging	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
IGL02974:Gzmc	APN	14	56,471,451 (GRCm39)	missense	probably damaging	1.00
IGL03408:Gzmc	APN	14	56,471,473 (GRCm39)	missense	probably damaging	0.98
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

2015-04-16