Mutagenetix > Incidental Mutation

Incidental Mutation 'R6921:Gvin2'

539642

Institutional Source

Beutler Lab

Gene Symbol

Gvin2

Ensembl Gene

ENSMUSG00000078606

Gene Name

GTPase, very large interferon inducible, family member 2

Synonyms

Gm4070

MMRRC Submission

045006-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6921 (G1)

Quality Score

150.008

Status

Not validated

Chromosome

Chromosomal Location

105544346-105603174 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 105551187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 622 (Q622*)

Ref Sequence

ENSEMBL: ENSMUSP00000135898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106766] [ENSMUST00000176467] [ENSMUST00000176994]

AlphaFold

Q80SU7

Predicted Effect

probably null
Transcript: ENSMUST00000106766
AA Change: Q622*

SMART Domains

Protein: ENSMUSP00000102377
Gene: ENSMUSG00000078606
AA Change: Q622*

Domain	Start	End	E-Value	Type
low complexity region	104	116	N/A	INTRINSIC
low complexity region	122	135	N/A	INTRINSIC
Blast:PGAM	860	1554	7e-61	BLAST
coiled coil region	1625	1656	N/A	INTRINSIC
low complexity region	1769	1781	N/A	INTRINSIC
coiled coil region	1851	1877	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176467
AA Change: Q622*

SMART Domains

Protein: ENSMUSP00000135898
Gene: ENSMUSG00000078606
AA Change: Q622*

Domain	Start	End	E-Value	Type
low complexity region	104	116	N/A	INTRINSIC
low complexity region	122	135	N/A	INTRINSIC
Blast:PGAM	860	1554	7e-61	BLAST
coiled coil region	1625	1656	N/A	INTRINSIC
low complexity region	1769	1781	N/A	INTRINSIC
coiled coil region	1851	1877	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176994

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 96.4%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,166,019 (GRCm39)	H118Q	probably damaging	Het
Adgrl3	T	G	5: 81,796,560 (GRCm39)	V623G	probably damaging	Het
B9d2	A	G	7: 25,385,442 (GRCm39)	D84G	probably damaging	Het
Clec1a	A	T	6: 129,405,827 (GRCm39)	L268H	probably damaging	Het
Copa	A	T	1: 171,939,491 (GRCm39)	N576I	possibly damaging	Het
Cyp11b1	T	C	15: 74,712,798 (GRCm39)	T88A	probably benign	Het
Dis3l2	T	C	1: 86,785,063 (GRCm39)	I318T	probably benign	Het
Dmtf1	T	C	5: 9,180,654 (GRCm39)		probably benign	Het
Dnah17	C	A	11: 117,932,310 (GRCm39)	A3639S	probably damaging	Het
Dnajc8	T	A	4: 132,272,031 (GRCm39)	I89N	probably damaging	Het
Dync2h1	T	A	9: 7,102,549 (GRCm39)	H377L	probably benign	Het
Erfe	T	A	1: 91,298,054 (GRCm39)	I212N	probably benign	Het
Fam117b	A	G	1: 59,992,094 (GRCm39)	T248A	probably damaging	Het
Fbxo10	A	T	4: 45,044,849 (GRCm39)	N595K	probably damaging	Het
Fzd10	T	A	5: 128,678,646 (GRCm39)	M122K	probably damaging	Het
Gpr15	C	T	16: 58,538,144 (GRCm39)	R315H	probably benign	Het
H6pd	T	C	4: 150,066,508 (GRCm39)	D626G	probably damaging	Het
Hexd	A	G	11: 121,113,107 (GRCm39)	D514G	probably damaging	Het
Hoxd4	T	C	2: 74,558,836 (GRCm39)	S220P	possibly damaging	Het
Invs	A	G	4: 48,396,260 (GRCm39)	H311R	possibly damaging	Het
Ip6k1	A	G	9: 107,901,634 (GRCm39)	T70A	probably damaging	Het
Lipt2	T	C	7: 99,809,578 (GRCm39)	C222R	probably damaging	Het
Lrrc3	T	A	10: 77,736,866 (GRCm39)	D190V	probably damaging	Het
Marchf10	T	C	11: 105,280,603 (GRCm39)	T561A	probably benign	Het
Mcm10	G	A	2: 5,005,746 (GRCm39)	T463I	probably benign	Het
Mideas	A	G	12: 84,203,233 (GRCm39)	S890P	probably damaging	Het
Mmel1	T	C	4: 154,966,134 (GRCm39)	L52P	probably damaging	Het
Nipbl	T	C	15: 8,332,969 (GRCm39)	N2218S	probably benign	Het
Nr4a3	C	T	4: 48,051,486 (GRCm39)	P80L	probably benign	Het
Nrip1	C	T	16: 76,089,476 (GRCm39)	G694R	possibly damaging	Het
Oit3	A	T	10: 59,271,767 (GRCm39)	C197S	probably damaging	Het
Or5al1	C	T	2: 85,990,196 (GRCm39)	V173M	probably benign	Het
Or8b1b	A	G	9: 38,375,543 (GRCm39)	I69V	probably benign	Het
Otol1	A	G	3: 69,935,433 (GRCm39)	E475G	possibly damaging	Het
Pes1	T	C	11: 3,923,330 (GRCm39)	F168L	probably damaging	Het
Plch1	C	T	3: 63,615,155 (GRCm39)	R780H	possibly damaging	Het
Pxdn	C	G	12: 30,065,504 (GRCm39)	P1275A	probably damaging	Het
Sgcz	T	C	8: 37,993,443 (GRCm39)	E218G	probably damaging	Het
Slc27a5	A	T	7: 12,725,135 (GRCm39)	N437K	probably damaging	Het
Sult2b1	A	G	7: 45,384,612 (GRCm39)	S155P	probably damaging	Het
Tgfbrap1	T	C	1: 43,091,056 (GRCm39)	M690V	probably benign	Het
Tmem151a	A	T	19: 5,133,119 (GRCm39)	L29Q	probably damaging	Het
Tmprss2	A	G	16: 97,369,637 (GRCm39)	I379T	probably damaging	Het
Vmn1r168	T	A	7: 23,240,323 (GRCm39)	V60E	probably damaging	Het
Vmn2r73	A	C	7: 85,507,446 (GRCm39)	V622G	probably benign	Het
Wdr72	A	G	9: 74,117,928 (GRCm39)	H880R	probably benign	Het
Zfhx3	A	G	8: 109,678,024 (GRCm39)	T3025A	possibly damaging	Het

Other mutations in Gvin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Gvin2	APN	7	105,546,009 (GRCm39)	missense	possibly damaging	0.52
IGL02657:Gvin2	APN	7	105,545,972 (GRCm39)	missense	probably damaging	1.00
R0755:Gvin2	UTSW	7	105,545,892 (GRCm39)	missense	possibly damaging	0.81
R6913:Gvin2	UTSW	7	105,551,187 (GRCm39)	nonsense	probably null
R6914:Gvin2	UTSW	7	105,551,187 (GRCm39)	nonsense	probably null
R6941:Gvin2	UTSW	7	105,551,187 (GRCm39)	nonsense	probably null
R6943:Gvin2	UTSW	7	105,551,187 (GRCm39)	nonsense	probably null
R6944:Gvin2	UTSW	7	105,551,187 (GRCm39)	nonsense	probably null
R6945:Gvin2	UTSW	7	105,551,187 (GRCm39)	nonsense	probably null
R7208:Gvin2	UTSW	7	105,551,386 (GRCm39)	missense	possibly damaging	0.58
R7400:Gvin2	UTSW	7	105,551,247 (GRCm39)	missense	probably benign
R8477:Gvin2	UTSW	7	105,548,133 (GRCm39)	missense	possibly damaging	0.66
R8493:Gvin2	UTSW	7	105,548,088 (GRCm39)	missense	probably benign	0.09
R8880:Gvin2	UTSW	7	105,551,120 (GRCm39)	missense	probably benign	0.00
R9176:Gvin2	UTSW	7	105,551,262 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GGTGACCTCATATGTAGCCG -3'
(R):5'- GGAGGTTTCTGATCCTGAAGAAC -3'

Sequencing Primer
(F):5'- GACCTCATATGTAGCCGTTCTTTCTG -3'
(R):5'- GTTTCTGATCCTGAAGAACAACTTAC -3'

Posted On

2018-11-06