Mutagenetix > Incidental Mutations

Incidental Mutation 'R0280:Vsig8'

37435

Institutional Source

Beutler Lab

Gene Symbol

Vsig8

Ensembl Gene

ENSMUSG00000049598

Gene Name

V-set and immunoglobulin domain containing 8

Synonyms

EG240916

MMRRC Submission

038502-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0280 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

172555938-172563717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172561538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 119 (D119G)

Ref Sequence

ENSEMBL: ENSMUSP00000134997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061835] [ENSMUST00000177086]

AlphaFold

Q6P3A4

Predicted Effect

probably benign
Transcript: ENSMUST00000061835
AA Change: D231G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000058008
Gene: ENSMUSG00000049598
AA Change: D231G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	29	142	1.22e-7	SMART
IGc2	157	245	3.3e-4	SMART
transmembrane domain	264	286	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169111

Predicted Effect

probably benign
Transcript: ENSMUST00000177086
AA Change: D119G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134997
Gene: ENSMUSG00000049598
AA Change: D119G

Domain	Start	End	E-Value	Type
Blast:IG_like	1	30	5e-11	BLAST
IGc2	45	133	3.3e-4	SMART
transmembrane domain	152	174	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
Ankrd16	T	G	2: 11,781,501	V187G	probably damaging	Het
AU019823	T	C	9: 50,609,379	T123A	probably damaging	Het
Ccdc110	A	T	8: 45,943,450	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,558,663	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,008,715	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Crocc	T	C	4: 141,028,426	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,271,602	V494E	probably damaging	Het
Drg1	A	T	11: 3,256,537		probably null	Het
Dscam	T	C	16: 97,039,006	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 28,184,312	Y198H	probably damaging	Het
Esr1	A	G	10: 4,856,951	D289G	probably benign	Het
Esr1	G	T	10: 4,939,289	V396F	probably damaging	Het
Evi5l	T	C	8: 4,193,133	V339A	probably damaging	Het
Fat4	A	T	3: 38,890,816	Q1286L	probably benign	Het
Frem1	T	C	4: 82,969,444	H1118R	probably damaging	Het
Fuk	A	T	8: 110,894,748	V188D	probably damaging	Het
Fut9	C	T	4: 25,619,852	D321N	probably benign	Het
Gaa	T	G	11: 119,284,547	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,544,680		probably null	Het
Kidins220	A	G	12: 25,010,141	T767A	probably damaging	Het
Kif7	A	G	7: 79,698,823	S1257P	probably benign	Het
Ltn1	A	G	16: 87,397,838	L1391P	probably damaging	Het
Mast3	A	G	8: 70,783,795	Y681H	probably damaging	Het
Mast3	A	G	8: 70,787,920	V291A	possibly damaging	Het
Metrn	C	T	17: 25,795,135	R239H	probably benign	Het
Mphosph10	C	A	7: 64,376,703	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,586,461	T433I	probably benign	Het
Mtmr2	A	G	9: 13,799,249	K365E	probably damaging	Het
Nanog	A	G	6: 122,713,398	D229G	probably damaging	Het
Npepps	T	C	11: 97,241,014	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,551,936		probably benign	Het
Olfr1279	T	C	2: 111,307,072	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,607,034	E357G	probably damaging	Het
Polb	A	T	8: 22,640,392	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,162,775	S74T	probably benign	Het
Raet1d	T	A	10: 22,370,883	C37S	probably damaging	Het
Reln	G	A	5: 22,227,513		probably benign	Het
Rps6kc1	T	C	1: 190,809,000	S369G	probably damaging	Het
Sgf29	A	G	7: 126,671,571	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,706,017	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,896,822	L188*	probably null	Het
Slc9a3	T	A	13: 74,159,424	I445N	probably damaging	Het
Sufu	A	T	19: 46,450,673		probably benign	Het
Tomm40	G	A	7: 19,713,751	T118I	probably damaging	Het
Ttc25	A	T	11: 100,550,265	K107N	probably damaging	Het
Ttn	C	T	2: 76,740,479	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,340,139	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het

Other mutations in Vsig8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Vsig8	APN	1	172561589	missense	probably damaging	0.98
IGL02413:Vsig8	APN	1	172560376	missense	probably damaging	1.00
IGL03172:Vsig8	APN	1	172560349	missense	probably damaging	1.00
R0042:Vsig8	UTSW	1	172560358	missense	possibly damaging	0.76
R0042:Vsig8	UTSW	1	172560358	missense	possibly damaging	0.76
R1615:Vsig8	UTSW	1	172559713	missense	probably damaging	1.00
R2078:Vsig8	UTSW	1	172563289	missense	probably benign	0.24
R4425:Vsig8	UTSW	1	172563147	missense	probably damaging	1.00
R4547:Vsig8	UTSW	1	172560596	missense	probably benign	0.01
R4822:Vsig8	UTSW	1	172559638	missense	probably damaging	1.00
R4890:Vsig8	UTSW	1	172561575	missense	probably benign	0.00
R5323:Vsig8	UTSW	1	172560677	missense	probably benign	0.39
R5430:Vsig8	UTSW	1	172559629	missense	probably damaging	1.00
R6527:Vsig8	UTSW	1	172560358	missense	possibly damaging	0.76
R6766:Vsig8	UTSW	1	172560576	missense	probably benign	0.00
R7276:Vsig8	UTSW	1	172563283	nonsense	probably null
R8230:Vsig8	UTSW	1	172561511	missense	probably damaging	1.00
R9072:Vsig8	UTSW	1	172560773	missense	possibly damaging	0.90
X0062:Vsig8	UTSW	1	172560258	missense	possibly damaging	0.61
Z1177:Vsig8	UTSW	1	172563150	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCATCACTGGCATGAGAGGATTAGAG -3'
(R):5'- GAGTTTATCTGCTATCCAATCCCGGAC -3'

Sequencing Primer
(F):5'- atcaccacaatcaaagaataacaaag -3'
(R):5'- CAATCCCGGACCACCAC -3'

Posted On

2013-05-23