Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02995:Gzme'

407099

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gzme

Ensembl Gene

ENSMUSG00000022156

Gene Name

granzyme E

Synonyms

Ctla-6, CCP3, Ctla6, MCSP-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL02995

Quality Score

Status

Chromosome

Chromosomal Location

56355083-56358082 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56356166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 111 (M111L)

Ref Sequence

ENSEMBL: ENSMUSP00000086978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089549]

AlphaFold

P08884

Predicted Effect

probably damaging
Transcript: ENSMUST00000089549
AA Change: M111L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000086978
Gene: ENSMUSG00000022156
AA Change: M111L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	20	241	9.48e-76	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,470,456 (GRCm39)	V175A	probably benign	Het
Adam19	G	A	11: 46,027,176 (GRCm39)	R603Q	probably benign	Het
Adam25	T	C	8: 41,206,760 (GRCm39)	S9P	probably benign	Het
Akr1e1	T	A	13: 4,647,477 (GRCm39)		probably benign	Het
Ano8	C	T	8: 71,935,761 (GRCm39)	V286I	possibly damaging	Het
Baz1a	C	T	12: 54,947,232 (GRCm39)	R1139H	probably damaging	Het
Brca2	T	A	5: 150,452,953 (GRCm39)	L29H	probably damaging	Het
Btaf1	T	C	19: 36,958,535 (GRCm39)		probably benign	Het
C8b	T	A	4: 104,658,525 (GRCm39)		probably benign	Het
Cep295	A	T	9: 15,244,608 (GRCm39)	S1283T	probably damaging	Het
Cyp1a2	T	C	9: 57,584,511 (GRCm39)	*514W	probably null	Het
D2hgdh	G	T	1: 93,757,558 (GRCm39)	D158Y	probably damaging	Het
Dennd1b	G	A	1: 139,008,980 (GRCm39)	V228M	probably damaging	Het
Fgd6	T	A	10: 93,881,342 (GRCm39)	L732*	probably null	Het
Gm21969	G	A	4: 139,335,009 (GRCm39)	G348S	probably benign	Het
Gprc6a	C	T	10: 51,502,895 (GRCm39)	V323M	probably damaging	Het
Iars2	G	T	1: 185,035,498 (GRCm39)	Q581K	probably benign	Het
Klra17	A	T	6: 129,845,647 (GRCm39)		probably null	Het
Klra5	A	T	6: 129,883,577 (GRCm39)	D93E	possibly damaging	Het
Lats2	T	C	14: 57,937,805 (GRCm39)	Y228C	probably damaging	Het
Lrrn3	T	C	12: 41,502,216 (GRCm39)	I700M	probably damaging	Het
Ltb	A	T	17: 35,414,348 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,923,279 (GRCm39)		probably benign	Het
Or10a3	T	A	7: 108,480,198 (GRCm39)	E205V	probably damaging	Het
Or11l3	A	G	11: 58,516,107 (GRCm39)	M255T	possibly damaging	Het
Or12d13	A	T	17: 37,647,600 (GRCm39)	H174Q	probably damaging	Het
Or1e35	G	A	11: 73,798,045 (GRCm39)	T91M	possibly damaging	Het
Or1j17	C	T	2: 36,578,644 (GRCm39)	P210L	possibly damaging	Het
Pgap1	A	C	1: 54,532,509 (GRCm39)	I670S	probably benign	Het
Plxna4	A	T	6: 32,493,530 (GRCm39)	I362N	probably damaging	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Prr27	T	C	5: 87,990,675 (GRCm39)	S96P	probably benign	Het
Psip1	T	A	4: 83,381,954 (GRCm39)		probably benign	Het
Rgs3	T	A	4: 62,544,084 (GRCm39)	H285Q	possibly damaging	Het
Ror1	T	C	4: 100,191,722 (GRCm39)		probably benign	Het
Rps6ka5	C	A	12: 100,540,258 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,404,105 (GRCm39)	Y533N	probably benign	Het
Snx6	T	C	12: 54,842,295 (GRCm39)		probably benign	Het
Tbc1d9	T	A	8: 83,995,688 (GRCm39)		probably null	Het
Tek	T	C	4: 94,627,877 (GRCm39)		probably benign	Het
Tor2a	T	A	2: 32,651,509 (GRCm39)	H241Q	possibly damaging	Het
Wnt5a	A	T	14: 28,244,871 (GRCm39)	I353F	probably benign	Het

Other mutations in Gzme

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01501:Gzme	APN	14	56,356,858 (GRCm39)	missense	probably damaging	1.00
IGL02282:Gzme	APN	14	56,355,826 (GRCm39)	missense	probably damaging	1.00
IGL02488:Gzme	APN	14	56,355,849 (GRCm39)	missense	probably benign	0.00
R0711:Gzme	UTSW	14	56,355,196 (GRCm39)	missense	probably damaging	0.97
R1483:Gzme	UTSW	14	56,356,169 (GRCm39)	missense	probably damaging	1.00
R1765:Gzme	UTSW	14	56,355,871 (GRCm39)	missense	probably damaging	1.00
R4827:Gzme	UTSW	14	56,356,755 (GRCm39)	missense	probably null	0.92
R5327:Gzme	UTSW	14	56,355,224 (GRCm39)	missense	probably benign	0.01
R5328:Gzme	UTSW	14	56,355,224 (GRCm39)	missense	probably benign	0.01
R5440:Gzme	UTSW	14	56,355,910 (GRCm39)	missense	possibly damaging	0.52
R6081:Gzme	UTSW	14	56,355,764 (GRCm39)	missense	possibly damaging	0.46
R6573:Gzme	UTSW	14	56,356,283 (GRCm39)	missense	probably benign	0.03
R7525:Gzme	UTSW	14	56,356,790 (GRCm39)	missense	probably benign	0.00
R9246:Gzme	UTSW	14	56,356,198 (GRCm39)	missense	probably benign	0.01
R9399:Gzme	UTSW	14	56,355,796 (GRCm39)	missense	probably damaging	0.99
R9452:Gzme	UTSW	14	56,355,854 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02