Mutagenetix > Incidental Mutation

Incidental Mutation 'R3895:Gvin-ps6'

310496

Institutional Source

Beutler Lab

Gene Symbol

Gvin-ps6

Ensembl Gene

ENSMUSG00000053541

Gene Name

GTPase, very large interferon inducible, pseudogene 6

Synonyms

Gm4759

MMRRC Submission

040806-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R3895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106017055-106023676 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106022621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 127 (H127L)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000066023
AA Change: H127L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071028
Gene: ENSMUSG00000053541
AA Change: H127L

Domain	Start	End	E-Value	Type
low complexity region	200	212	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183414

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	C	2: 127,814,445 (GRCm39)		probably benign	Het
C6	T	C	15: 4,837,952 (GRCm39)	V854A	probably benign	Het
Ccnd1	T	C	7: 144,491,631 (GRCm39)	E136G	probably damaging	Het
CK137956	A	T	4: 127,840,441 (GRCm39)	F422I	probably benign	Het
Csta1	T	C	16: 35,951,402 (GRCm39)	T7A	probably benign	Het
Dock8	A	G	19: 25,028,865 (GRCm39)	E23G	probably benign	Het
Fbxo8	A	T	8: 57,044,556 (GRCm39)	R286S	probably damaging	Het
Gm12258	T	G	11: 58,749,375 (GRCm39)	Y183*	probably null	Het
Hectd3	A	G	4: 116,853,286 (GRCm39)	D171G	probably damaging	Het
Hoxd11	C	T	2: 74,513,136 (GRCm39)	R134W	probably damaging	Het
Ighg2c	T	C	12: 113,251,278 (GRCm39)	T246A	unknown	Het
Ints6	T	C	14: 62,934,060 (GRCm39)	I816V	probably damaging	Het
Lrp4	G	A	2: 91,304,294 (GRCm39)	G158S	probably damaging	Het
Mast1	G	A	8: 85,662,352 (GRCm39)	P52L	probably damaging	Het
Med13l	A	G	5: 118,899,388 (GRCm39)	D2148G	probably null	Het
Med24	A	G	11: 98,597,214 (GRCm39)	S889P	probably benign	Het
Mgam	T	A	6: 40,736,054 (GRCm39)	M851K	probably damaging	Het
Mkln1	T	A	6: 31,484,602 (GRCm39)	L710H	probably damaging	Het
Morf4l1	A	T	9: 89,976,501 (GRCm39)	F276I	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myt1	T	A	2: 181,461,863 (GRCm39)	S574R	probably damaging	Het
Nol11	C	A	11: 107,059,173 (GRCm39)	V644F	probably damaging	Het
Nusap1	C	A	2: 119,458,172 (GRCm39)	Q103K	possibly damaging	Het
Ovgp1	A	G	3: 105,893,912 (GRCm39)		probably benign	Het
Pcdh9	C	T	14: 94,124,974 (GRCm39)	V399M	probably damaging	Het
Plekhh1	T	C	12: 79,102,006 (GRCm39)	S359P	probably benign	Het
Prg4	G	C	1: 150,330,510 (GRCm39)		probably benign	Het
Ptpn14	C	T	1: 189,582,743 (GRCm39)	A530V	probably benign	Het
Rho	A	G	6: 115,910,863 (GRCm39)	Y136C	probably damaging	Het
Rps3	C	T	7: 99,129,103 (GRCm39)	R173H	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sall2	T	C	14: 52,551,504 (GRCm39)	N564D	probably damaging	Het
Sart3	G	A	5: 113,890,488 (GRCm39)	R452*	probably null	Het
Sbf2	T	C	7: 110,046,298 (GRCm39)	I300V	probably damaging	Het
Sgo2b	A	T	8: 64,381,767 (GRCm39)	V355E	possibly damaging	Het
Slc22a5	T	C	11: 53,756,651 (GRCm39)	K553R	possibly damaging	Het
Syne1	A	G	10: 5,355,456 (GRCm39)	V375A	probably damaging	Het
Trafd1	T	C	5: 121,516,804 (GRCm39)	E28G	probably benign	Het
Tsc2	T	C	17: 24,818,786 (GRCm39)	K1292R	probably damaging	Het
Twnk	A	G	19: 44,995,890 (GRCm39)	T108A	probably damaging	Het
Unc13c	A	T	9: 73,840,805 (GRCm39)	H15Q	probably benign	Het
Vps16	T	C	2: 130,280,596 (GRCm39)	S208P	possibly damaging	Het

Other mutations in Gvin-ps6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02487:Gvin-ps6	APN	7	106,022,471 (GRCm39)	exon	noncoding transcript
IGL03052:Gvin-ps6	UTSW	7	106,022,902 (GRCm39)	exon	noncoding transcript
IGL03138:Gvin-ps6	UTSW	7	106,023,650 (GRCm39)	exon	noncoding transcript
R0371:Gvin-ps6	UTSW	7	106,021,986 (GRCm39)	missense	unknown
R1238:Gvin-ps6	UTSW	7	106,022,264 (GRCm39)	missense	probably damaging	1.00
R2000:Gvin-ps6	UTSW	7	106,022,438 (GRCm39)	missense	probably benign	0.45
R4740:Gvin-ps6	UTSW	7	106,022,782 (GRCm39)	exon	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- AGTTGCATTCTGGCAGGATG -3'
(R):5'- GTTCAGCAAAGTATAGCTATGTGC -3'

Sequencing Primer
(F):5'- GGCAGGATGTTACTGAATATGAATC -3'
(R):5'- GCTATGTGCTCCTGGCC -3'

Posted On

2015-04-17