Mutagenetix > Incidental Mutation

Incidental Mutation 'R0042:Vsig8'

15748

Institutional Source

Beutler Lab

Gene Symbol

Vsig8

Ensembl Gene

ENSMUSG00000049598

Gene Name

V-set and immunoglobulin domain containing 8

Synonyms

EG240916

MMRRC Submission

038336-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0042 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

172383505-172391284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 172387925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 5 (V5A)

Ref Sequence

ENSEMBL: ENSMUSP00000134997 (fasta)

Gene Model

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

AlphaFold

Q6P3A4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061835
AA Change: V117A

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000058008
Gene: ENSMUSG00000049598
AA Change: V117A

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

possibly damaging
Transcript: ENSMUST00000177086
AA Change: V5A

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134997
Gene: ENSMUSG00000049598
AA Change: V5A

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

0.0796

Coding Region Coverage

1x: 81.9%
3x: 73.7%
10x: 53.7%
20x: 34.5%

Validation Efficiency

94% (58/62)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,059,245 (GRCm39)		probably benign	Het
Adgrf3	A	G	5: 30,402,426 (GRCm39)	L534P	probably damaging	Het
Ank2	T	C	3: 126,730,280 (GRCm39)	D3568G	probably damaging	Het
Atr	T	A	9: 95,809,409 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,326,335 (GRCm39)	V34A	probably benign	Het
Dmxl1	C	A	18: 49,997,102 (GRCm39)	T466K	probably benign	Het
Eya1	T	C	1: 14,254,713 (GRCm39)	D373G	probably damaging	Het
Fam120a	A	G	13: 49,087,490 (GRCm39)	V290A	probably damaging	Het
Gpr179	C	T	11: 97,225,757 (GRCm39)	V2133I	probably benign	Het
Grb10	G	T	11: 11,886,798 (GRCm39)	H435Q	probably damaging	Het
Gzmm	T	C	10: 79,530,399 (GRCm39)	I190T	probably benign	Het
H2-Q3	A	G	17: 35,578,823 (GRCm39)		noncoding transcript	Het
Hspb7	A	G	4: 141,151,245 (GRCm39)	E129G	probably damaging	Het
Il17ra	T	C	6: 120,449,086 (GRCm39)		probably benign	Het
Itgb3	A	G	11: 104,557,966 (GRCm39)	T787A	possibly damaging	Het
Krt4	T	G	15: 101,831,187 (GRCm39)		probably benign	Het
Lgsn	C	T	1: 31,229,534 (GRCm39)	T85I	probably benign	Het
Metap1	C	T	3: 138,177,918 (GRCm39)	V217I	probably benign	Het
Mib2	A	T	4: 155,743,897 (GRCm39)	C48*	probably null	Het
Mroh4	T	A	15: 74,482,154 (GRCm39)	I768F	probably damaging	Het
Npas3	T	A	12: 54,095,624 (GRCm39)	D361E	probably damaging	Het
P4hb	G	A	11: 120,459,092 (GRCm39)	R134C	probably damaging	Het
Prr35	C	A	17: 26,166,956 (GRCm39)	E194*	probably null	Het
Rbl1	A	G	2: 157,017,624 (GRCm39)		probably benign	Het
Rdh10	T	A	1: 16,178,260 (GRCm39)		probably benign	Het
Spata31	A	T	13: 65,070,377 (GRCm39)	I842L	probably benign	Het
Stk32b	A	C	5: 37,874,092 (GRCm39)	D13E	probably benign	Het
Svep1	T	C	4: 58,123,192 (GRCm39)	D708G	possibly damaging	Het
Taar6	T	C	10: 23,861,021 (GRCm39)	D175G	probably benign	Het
Tmod4	T	C	3: 95,037,099 (GRCm39)	D164G	possibly damaging	Het
Ttc23l	A	C	15: 10,551,627 (GRCm39)	L33W	probably damaging	Het
Ttc39d	T	C	17: 80,523,379 (GRCm39)	Y13H	probably benign	Het
Utp18	G	T	11: 93,766,684 (GRCm39)	T309K	probably damaging	Het
Vps11	G	T	9: 44,267,588 (GRCm39)	Y341*	probably null	Het

Other mutations in Vsig8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Vsig8	APN	1	172,389,156 (GRCm39)	missense	probably damaging	0.98
IGL02413:Vsig8	APN	1	172,387,943 (GRCm39)	missense	probably damaging	1.00
IGL03172:Vsig8	APN	1	172,387,916 (GRCm39)	missense	probably damaging	1.00
R0042:Vsig8	UTSW	1	172,387,925 (GRCm39)	missense	possibly damaging	0.76
R0280:Vsig8	UTSW	1	172,389,105 (GRCm39)	missense	probably benign	0.00
R1615:Vsig8	UTSW	1	172,387,280 (GRCm39)	missense	probably damaging	1.00
R2078:Vsig8	UTSW	1	172,390,856 (GRCm39)	missense	probably benign	0.24
R4425:Vsig8	UTSW	1	172,390,714 (GRCm39)	missense	probably damaging	1.00
R4547:Vsig8	UTSW	1	172,388,163 (GRCm39)	missense	probably benign	0.01
R4822:Vsig8	UTSW	1	172,387,205 (GRCm39)	missense	probably damaging	1.00
R4890:Vsig8	UTSW	1	172,389,142 (GRCm39)	missense	probably benign	0.00
R5323:Vsig8	UTSW	1	172,388,244 (GRCm39)	missense	probably benign	0.39
R5430:Vsig8	UTSW	1	172,387,196 (GRCm39)	missense	probably damaging	1.00
R6527:Vsig8	UTSW	1	172,387,925 (GRCm39)	missense	possibly damaging	0.76
R6766:Vsig8	UTSW	1	172,388,143 (GRCm39)	missense	probably benign	0.00
R7276:Vsig8	UTSW	1	172,390,850 (GRCm39)	nonsense	probably null
R8230:Vsig8	UTSW	1	172,389,078 (GRCm39)	missense	probably damaging	1.00
R9072:Vsig8	UTSW	1	172,388,340 (GRCm39)	missense	possibly damaging	0.90
X0062:Vsig8	UTSW	1	172,387,825 (GRCm39)	missense	possibly damaging	0.61
Z1177:Vsig8	UTSW	1	172,390,717 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-21