Mutagenetix > Incidental Mutation

Incidental Mutation 'R5440:Gzme'

428603

Institutional Source

Beutler Lab

Gene Symbol

Gzme

Ensembl Gene

ENSMUSG00000022156

Gene Name

granzyme E

Synonyms

Ctla-6, CCP3, Ctla6, MCSP-2

MMRRC Submission

043005-MU

Accession Numbers

Essential gene?

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

Stock #

R5440 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56355083-56358082 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56355910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 134 (N134I)

Ref Sequence

ENSEMBL: ENSMUSP00000086978 (fasta)

Gene Model

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

AlphaFold

P08884

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089549
AA Change: N134I

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000086978
Gene: ENSMUSG00000022156
AA Change: N134I

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc	G	T	18: 34,354,213 (GRCm39)		probably benign	Het
Apol11b	T	A	15: 77,519,793 (GRCm39)	K96*	probably null	Het
Arhgap35	C	T	7: 16,296,849 (GRCm39)	G739S	probably damaging	Het
Atp6v0a4	A	C	6: 38,069,752 (GRCm39)	F47V	probably damaging	Het
Bcl9	G	A	3: 97,117,881 (GRCm39)	P271L	probably benign	Het
Cd109	T	C	9: 78,587,446 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,521,645 (GRCm39)	I2771F	probably benign	Het
Col6a1	A	G	10: 76,559,288 (GRCm39)	V116A	probably damaging	Het
Cpsf2	C	G	12: 101,963,138 (GRCm39)	L401V	probably benign	Het
Cwf19l2	G	A	9: 3,475,549 (GRCm39)	E829K	probably damaging	Het
D7Ertd443e	G	A	7: 133,951,004 (GRCm39)	T223I	probably damaging	Het
Dtx4	G	A	19: 12,469,681 (GRCm39)	R149C	probably damaging	Het
Fam186b	C	T	15: 99,171,734 (GRCm39)	A838T	possibly damaging	Het
Fzd4	G	T	7: 89,057,326 (GRCm39)	E458*	probably null	Het
Gm17669	C	T	18: 67,695,526 (GRCm39)	P24S	possibly damaging	Het
Grin2b	C	T	6: 135,713,304 (GRCm39)	G859D	probably damaging	Het
Gucy2e	T	C	11: 69,114,472 (GRCm39)	Y1019C	probably damaging	Het
Havcr1	A	T	11: 46,643,197 (GRCm39)	Y39F	probably damaging	Het
Hint3	A	T	10: 30,494,347 (GRCm39)	M1K	probably null	Het
Hspa4l	A	G	3: 40,736,008 (GRCm39)	K543R	probably damaging	Het
Ifna9	A	G	4: 88,510,048 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lipo2	A	G	19: 33,698,258 (GRCm39)	I373T	probably benign	Het
Myo5c	T	A	9: 75,165,407 (GRCm39)	I405N	possibly damaging	Het
Or10a49	T	C	7: 108,467,833 (GRCm39)	H176R	probably damaging	Het
P2rx1	A	G	11: 72,899,329 (GRCm39)	M108V	probably benign	Het
Pcsk2	T	A	2: 143,388,463 (GRCm39)	V18E	probably benign	Het
Pigr	A	T	1: 130,777,359 (GRCm39)		probably null	Het
Pkp1	A	T	1: 135,810,230 (GRCm39)	C447S	probably benign	Het
Prom1	T	A	5: 44,215,988 (GRCm39)	I96F	probably benign	Het
Prpf4b	T	C	13: 35,068,076 (GRCm39)		probably benign	Het
Ropn1	C	A	16: 34,491,542 (GRCm39)	D102E	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Sphk1	T	G	11: 116,425,714 (GRCm39)	V17G	possibly damaging	Het
Syngr1	A	G	15: 79,982,219 (GRCm39)	N2S	probably benign	Het
Syt9	T	G	7: 107,101,330 (GRCm39)	S359A	possibly damaging	Het
Terb1	T	C	8: 105,215,131 (GRCm39)	I282V	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Ttn	A	T	2: 76,739,600 (GRCm39)	D3646E	probably benign	Het
Ube2d1	A	G	10: 71,091,682 (GRCm39)	W141R	probably damaging	Het
Vmn2r41	T	A	7: 8,141,362 (GRCm39)	I701F	probably damaging	Het
Zfp770	T	C	2: 114,026,596 (GRCm39)	D491G	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
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

Predicted Primers

PCR Primer
(F):5'- AAATGCTTGAACTCTCACCTTG -3'
(R):5'- CTTCTTGGTGCAGGGTGAAC -3'

Sequencing Primer
(F):5'- CTTCAAGTCTCCAGCACAAATCTCTG -3'
(R):5'- GGGTGAACCTCCCCCTC -3'

Posted On

2016-09-01