Mutagenetix > Incidental Mutation

Incidental Mutation 'R1411:Gvin-ps3'

200806

Institutional Source

Beutler Lab

Gene Symbol

Gvin-ps3

Ensembl Gene

ENSMUSG00000095649

Gene Name

GTPase, very large interferon inducible, pseudogene 3

Synonyms

Gm8979, Gm21884

MMRRC Submission

039467-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R1411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105674938-105678355 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105682686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 190 (A190T)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176647

Predicted Effect

probably benign
Transcript: ENSMUST00000180034
AA Change: A190T

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137556
Gene: ENSMUSG00000095649
AA Change: A190T

Domain	Start	End	E-Value	Type
low complexity region	104	116	N/A	INTRINSIC
low complexity region	414	425	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183386

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	T	A	8: 71,914,374 (GRCm39)	I85F	probably damaging	Het
Acp4	A	G	7: 43,906,267 (GRCm39)		probably benign	Het
Baz1b	T	C	5: 135,259,177 (GRCm39)	F1080L	possibly damaging	Het
Cbx5	A	T	15: 103,121,547 (GRCm39)	M30K	probably benign	Het
Cdc73	A	G	1: 143,485,252 (GRCm39)		probably benign	Het
Cdcp1	A	T	9: 123,019,177 (GRCm39)	L34Q	probably damaging	Het
Chd8	C	T	14: 52,462,103 (GRCm39)	V738I	probably benign	Het
Cpeb2	T	G	5: 43,391,113 (GRCm39)		probably benign	Het
Cyp2c67	T	A	19: 39,627,035 (GRCm39)	D265V	probably damaging	Het
Cyp2j11	A	G	4: 96,233,453 (GRCm39)	I81T	probably benign	Het
Dbx2	T	C	15: 95,530,262 (GRCm39)	E235G	probably damaging	Het
Dgkq	C	A	5: 108,798,228 (GRCm39)	V677F	probably damaging	Het
Ercc5	A	G	1: 44,217,441 (GRCm39)	N928S	probably damaging	Het
Flt1	C	T	5: 147,517,126 (GRCm39)	V1054M	probably damaging	Het
Flywch1	T	C	17: 23,974,798 (GRCm39)	D614G	probably damaging	Het
Frmd3	T	C	4: 74,071,858 (GRCm39)	F247L	probably damaging	Het
Gm1527	A	G	3: 28,968,632 (GRCm39)	N228S	probably benign	Het
Gpld1	T	A	13: 25,146,791 (GRCm39)	L251Q	probably damaging	Het
Gzma	C	T	13: 113,232,742 (GRCm39)	V117I	probably benign	Het
Hydin	C	A	8: 111,301,663 (GRCm39)	T3798K	probably benign	Het
Il1rapl1	T	A	X: 85,790,904 (GRCm39)	S679C	possibly damaging	Het
Lrrc8c	G	A	5: 105,756,045 (GRCm39)	A607T	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Mfsd4b4	A	T	10: 39,768,136 (GRCm39)	M319K	probably damaging	Het
Mroh2b	A	C	15: 4,947,799 (GRCm39)	H538P	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nup188	A	G	2: 30,233,807 (GRCm39)	T1733A	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Ofcc1	A	G	13: 40,296,263 (GRCm39)	S524P	probably benign	Het
Or6x1	C	T	9: 40,098,435 (GRCm39)	T8I	possibly damaging	Het
Padi4	C	T	4: 140,479,914 (GRCm39)	S413N	probably damaging	Het
Pdzrn4	A	G	15: 92,668,894 (GRCm39)	*1015W	probably null	Het
Pkhd1	G	A	1: 20,444,120 (GRCm39)	P2314L	probably damaging	Het
Serpinb9c	C	G	13: 33,335,817 (GRCm39)	V212L	probably benign	Het
Slc25a23	A	G	17: 57,366,622 (GRCm39)	F18L	probably damaging	Het
Smarca4	C	A	9: 21,570,251 (GRCm39)	N751K	probably damaging	Het
Tfip11	G	T	5: 112,480,899 (GRCm39)	V292L	probably benign	Het
Tnrc18	T	C	5: 142,751,702 (GRCm39)	K1201R	unknown	Het
Vmn1r199	T	C	13: 22,567,671 (GRCm39)	F322L	probably benign	Het
Vmn1r201	T	C	13: 22,658,849 (GRCm39)	V21A	probably benign	Het
Vmn2r108	A	T	17: 20,683,107 (GRCm39)	I699K	probably damaging	Het
Vmn2r117	T	C	17: 23,679,527 (GRCm39)	N566D	probably damaging	Het
Wdr12	A	T	1: 60,127,231 (GRCm39)	D141E	probably benign	Het
Zfp974	A	G	7: 27,610,634 (GRCm39)	S364P	probably benign	Het

Other mutations in Gvin-ps3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Gvin-ps3	APN	7	105,681,008 (GRCm39)	exon	noncoding transcript
IGL01125:Gvin-ps3	APN	7	105,682,021 (GRCm39)	missense	unknown	0.00
IGL01392:Gvin-ps3	APN	7	105,682,962 (GRCm39)	missense	probably benign	0.01
R1184:Gvin-ps3	UTSW	7	105,683,159 (GRCm39)	missense	probably benign	0.03
R2198:Gvin-ps3	UTSW	7	105,682,758 (GRCm39)	missense	probably benign	0.00
R2311:Gvin-ps3	UTSW	7	105,682,797 (GRCm39)	missense	probably damaging	0.99
R2380:Gvin-ps3	UTSW	7	105,681,374 (GRCm39)	missense	possibly damaging	0.86
R3825:Gvin-ps3	UTSW	7	105,682,780 (GRCm39)	missense	possibly damaging	0.92
R4397:Gvin-ps3	UTSW	7	105,682,130 (GRCm39)	exon	noncoding transcript
R4693:Gvin-ps3	UTSW	7	105,681,585 (GRCm39)	exon	noncoding transcript
R4787:Gvin-ps3	UTSW	7	105,681,041 (GRCm39)	exon	noncoding transcript
R4840:Gvin-ps3	UTSW	7	105,680,627 (GRCm39)	exon	noncoding transcript
R4972:Gvin-ps3	UTSW	7	105,682,521 (GRCm39)	exon	noncoding transcript
R5221:Gvin-ps3	UTSW	7	105,683,181 (GRCm39)	exon	noncoding transcript
R5296:Gvin-ps3	UTSW	7	105,681,055 (GRCm39)	exon	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- GCCTGTCTGTTTTGACCCATACCAG -3'
(R):5'- CTGAGACAAGCAATGGAGATCCCTG -3'

Sequencing Primer
(F):5'- CGCCTTTAACCAAGGAAGTTG -3'
(R):5'- AGATCCCTGAGGAGTGCTG -3'

Posted On

2014-05-23