Mutagenetix > Incidental Mutation

Incidental Mutation 'R5323:Vsig8'

404942

Institutional Source

Beutler Lab

Gene Symbol

Vsig8

Ensembl Gene

ENSMUSG00000049598

Gene Name

V-set and immunoglobulin domain containing 8

Synonyms

EG240916

MMRRC Submission

042906-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172383505-172391284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172388244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 71 (S71G)

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: S183G

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000058008
Gene: ENSMUSG00000049598
AA Change: S183G

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: S71G

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134997
Gene: ENSMUSG00000049598
AA Change: S71G

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	A	7: 82,206,269 (GRCm39)	C784S	probably damaging	Het
Ahnak2	A	T	12: 112,745,989 (GRCm39)		probably benign	Het
Apon	A	G	10: 128,090,907 (GRCm39)	E195G	probably damaging	Het
Atxn10	A	G	15: 85,275,944 (GRCm39)	I334V	probably benign	Het
Camsap1	G	T	2: 25,855,823 (GRCm39)	A145E	probably damaging	Het
Capns1	G	T	7: 29,887,147 (GRCm39)	F243L	possibly damaging	Het
Catsper2	A	T	2: 121,237,216 (GRCm39)	I228N	probably damaging	Het
Ceacam14	A	T	7: 17,549,402 (GRCm39)	*264C	probably null	Het
Cel	A	C	2: 28,450,530 (GRCm39)	V165G	probably damaging	Het
Cldnd1	T	A	16: 58,550,016 (GRCm39)	D66E	possibly damaging	Het
Cntnap5b	T	A	1: 100,311,275 (GRCm39)	C589*	probably null	Het
Dnah3	T	A	7: 119,620,234 (GRCm39)	H1554L	probably damaging	Het
Fbxw25	T	A	9: 109,492,573 (GRCm39)	M55L	probably benign	Het
Fn1	T	C	1: 71,636,591 (GRCm39)	H2187R	probably benign	Het
Fsip2	A	G	2: 82,818,489 (GRCm39)	T4741A	possibly damaging	Het
Gabpa	T	A	16: 84,653,934 (GRCm39)	I272N	possibly damaging	Het
Ganab	T	C	19: 8,886,049 (GRCm39)	S212P	probably benign	Het
Ggt1	A	G	10: 75,421,495 (GRCm39)		probably null	Het
Hpgds	T	C	6: 65,109,169 (GRCm39)	T81A	probably benign	Het
Insr	G	A	8: 3,252,902 (GRCm39)	T419I	probably benign	Het
Itgb7	A	G	15: 102,140,059 (GRCm39)		probably benign	Het
Kcnt1	A	G	2: 25,799,289 (GRCm39)	I951V	possibly damaging	Het
Lrrc4c	T	A	2: 97,460,498 (GRCm39)	C375S	probably damaging	Het
Muc17	G	T	5: 137,175,537 (GRCm39)	C44*	probably null	Het
Mycbpap	A	T	11: 94,394,330 (GRCm39)	D313E	probably benign	Het
Neo1	A	G	9: 58,813,931 (GRCm39)		probably null	Het
Ntsr2	C	T	12: 16,709,934 (GRCm39)	S405F	probably benign	Het
Nup153	G	A	13: 46,870,682 (GRCm39)	P21S	probably benign	Het
Obscn	T	A	11: 58,887,703 (GRCm39)	E7705D	probably benign	Het
Ogn	A	G	13: 49,762,817 (GRCm39)	D53G	probably benign	Het
Or10d5j	A	T	9: 39,868,125 (GRCm39)	Y35*	probably null	Het
Or14j10	A	T	17: 37,935,046 (GRCm39)	I160K	probably benign	Het
Or5k8	G	A	16: 58,645,066 (GRCm39)	T2I	probably benign	Het
Or5p5	T	C	7: 107,413,883 (GRCm39)	F33L	possibly damaging	Het
Or9i1b	A	T	19: 13,896,980 (GRCm39)	I199F	possibly damaging	Het
Pde6a	G	A	18: 61,365,983 (GRCm39)	R236H	possibly damaging	Het
Pigk	T	A	3: 152,443,837 (GRCm39)	M85K	probably damaging	Het
Pirb	A	C	7: 3,719,598 (GRCm39)	I516S	possibly damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Pum2	T	A	12: 8,794,706 (GRCm39)	I737N	probably damaging	Het
Recql5	A	T	11: 115,818,215 (GRCm39)	C159S	probably damaging	Het
Rxrg	A	G	1: 167,452,573 (GRCm39)	N125S	probably benign	Het
Sgip1	C	A	4: 102,823,477 (GRCm39)	N699K	probably damaging	Het
Shprh	G	A	10: 11,046,041 (GRCm39)		probably null	Het
Smcp	C	T	3: 92,491,454 (GRCm39)	G131D	unknown	Het
St8sia6	A	G	2: 13,798,188 (GRCm39)	L23P	possibly damaging	Het
Stk32c	T	A	7: 138,699,276 (GRCm39)	T335S	probably benign	Het
Stox1	G	A	10: 62,499,812 (GRCm39)	A916V	possibly damaging	Het
Syk	A	T	13: 52,785,753 (GRCm39)	T297S	probably benign	Het
Tert	G	T	13: 73,796,490 (GRCm39)	A1074S	probably benign	Het
Tex9	A	T	9: 72,385,187 (GRCm39)	D135E	probably damaging	Het
Tmem132a	G	A	19: 10,841,371 (GRCm39)	H318Y	possibly damaging	Het
Ttn	A	G	2: 76,738,249 (GRCm39)	S4097P	probably benign	Het
Ush2a	A	T	1: 188,553,874 (GRCm39)		probably null	Het
Usp36	A	T	11: 118,156,020 (GRCm39)	S586T	probably benign	Het
Zfp318	G	A	17: 46,697,662 (GRCm39)	D173N	probably damaging	Het
Zfp638	T	A	6: 83,939,076 (GRCm39)	S936T	probably damaging	Het
Zic2	A	G	14: 122,713,728 (GRCm39)	Y214C	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGAGTCAAGTGCAGATTGGC -3'
(R):5'- AAATGAGCAGCCTCTCACCG -3'

Sequencing Primer
(F):5'- CAGATTGGCTGCTGTGAGCC -3'
(R):5'- AGCCTCTCACCGGGGTAC -3'

Posted On

2016-07-22