Mutagenetix > Incidental Mutation

Incidental Mutation 'R9399:Gzme'

711019

Institutional Source

Beutler Lab

Gene Symbol

Gzme

Ensembl Gene

ENSMUSG00000022156

Gene Name

granzyme E

Synonyms

Ctla-6, CCP3, Ctla6, MCSP-2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R9399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56355083-56358082 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56355796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 172 (D172V)

Ref Sequence

ENSEMBL: ENSMUSP00000086978 (fasta)

Gene Model

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

AlphaFold

P08884

Predicted Effect

probably damaging
Transcript: ENSMUST00000089549
AA Change: D172V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086978
Gene: ENSMUSG00000022156
AA Change: D172V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	C	14: 32,384,615 (GRCm39)	L450R	probably damaging	Het
4933427I04Rik	T	A	4: 123,754,413 (GRCm39)	L109*	probably null	Het
Amotl2	T	C	9: 102,606,531 (GRCm39)	L576P	probably damaging	Het
Ankrd11	T	C	8: 123,618,179 (GRCm39)	N1891S	probably benign	Het
Arap2	T	A	5: 62,763,455 (GRCm39)	H1563L	possibly damaging	Het
Astn2	T	C	4: 65,664,588 (GRCm39)	T732A	possibly damaging	Het
Atp2b2	A	G	6: 113,780,713 (GRCm39)	I312T	probably benign	Het
Bcl9	C	T	3: 97,113,289 (GRCm39)	M1055I	probably benign	Het
Carm1	A	G	9: 21,486,791 (GRCm39)	N180D	possibly damaging	Het
Cd180	A	T	13: 102,842,021 (GRCm39)	T356S	probably benign	Het
Cdh18	A	C	15: 23,173,899 (GRCm39)	T38P	probably damaging	Het
Cdk7	G	T	13: 100,840,988 (GRCm39)	P308Q	probably damaging	Het
Chd5	C	T	4: 152,468,592 (GRCm39)	A1715V	probably benign	Het
Clptm1	A	T	7: 19,367,842 (GRCm39)	V590D	probably damaging	Het
Col18a1	C	T	10: 76,916,584 (GRCm39)	G364R	unknown	Het
Ddhd1	C	T	14: 45,895,117 (GRCm39)	G118R	possibly damaging	Het
Fgfr4	C	T	13: 55,304,293 (GRCm39)	T111M	probably damaging	Het
Fndc8	A	T	11: 82,788,739 (GRCm39)	T190S	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Glra3	T	A	8: 56,542,079 (GRCm39)	I274N	probably damaging	Het
Gpsm2	G	A	3: 108,590,090 (GRCm39)	R499*	probably null	Het
Ift88	T	A	14: 57,717,385 (GRCm39)	D536E	probably benign	Het
Itih3	T	C	14: 30,643,335 (GRCm39)	T151A	probably benign	Het
Kctd7	T	C	5: 130,177,033 (GRCm39)	Y95H	probably damaging	Het
Lipe	A	T	7: 25,097,227 (GRCm39)	C239S	probably benign	Het
Lpcat3	T	C	6: 124,640,283 (GRCm39)	S38P	probably benign	Het
Mical2	C	T	7: 111,946,082 (GRCm39)	R1015C	probably damaging	Het
Midn	C	T	10: 79,992,210 (GRCm39)	R421*	probably null	Het
Mmp17	A	T	5: 129,671,686 (GRCm39)	K79*	probably null	Het
Or8b39	A	G	9: 37,997,020 (GRCm39)	H296R	probably benign	Het
Or8k16	G	C	2: 85,520,395 (GRCm39)	L207F	probably damaging	Het
Pla2r1	A	G	2: 60,282,744 (GRCm39)		probably null	Het
Ppp1r3a	A	G	6: 14,755,010 (GRCm39)	V79A	probably damaging	Het
Prkd3	G	T	17: 79,264,719 (GRCm39)	P633H	probably damaging	Het
Prss40	T	A	1: 34,591,794 (GRCm39)	S294C	probably damaging	Het
Raph1	T	A	1: 60,565,154 (GRCm39)	Q111L	probably benign	Het
Rufy3	A	T	5: 88,797,725 (GRCm39)	N634I	possibly damaging	Het
Sel1l3	A	C	5: 53,265,486 (GRCm39)	V1102G	probably benign	Het
Sh2b1	AGCTCAGCC	AGCTCAGCCCCGGGGACCCGCTCAGCC	7: 126,066,750 (GRCm39)		probably benign	Het
Sh2b1	GG	GGCACCAGCTCAGCCCCGCG	7: 126,066,762 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGGACCAGCTCAGCCACG	GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG	7: 126,066,744 (GRCm39)		probably benign	Het
Slc25a23	C	A	17: 57,360,930 (GRCm39)	G165C	probably damaging	Het
Spata31e1	T	A	13: 49,940,175 (GRCm39)	T512S	possibly damaging	Het
Sytl2	T	A	7: 90,041,658 (GRCm39)	D585E	probably benign	Het
Ttc14	A	G	3: 33,858,856 (GRCm39)	T372A	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r82	T	A	10: 79,214,768 (GRCm39)	Y250*	probably null	Het
Vmn2r92	T	A	17: 18,389,137 (GRCm39)	S484T	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
IGL02995:Gzme	APN	14	56,356,166 (GRCm39)	missense	probably damaging	1.00
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
R9452:Gzme	UTSW	14	56,355,854 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTGAAATGAGGCTTGAGGG -3'
(R):5'- TCAAAGAGTCTCAGGCTAGCAG -3'

Sequencing Primer
(F):5'- GAGGGTTTTGCCATTCTCACAC -3'
(R):5'- CTTCCCTATCAGCTGGAGAGTAAG -3'

Posted On

2022-04-18