Mutagenetix > Incidental Mutation

Incidental Mutation 'R8230:Vsig8'

637086

Institutional Source

Beutler Lab

Gene Symbol

Vsig8

Ensembl Gene

ENSMUSG00000049598

Gene Name

V-set and immunoglobulin domain containing 8

Synonyms

EG240916

MMRRC Submission

067662-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8230 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

172383505-172391284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 172389078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 222 (D222V)

Ref Sequence

ENSEMBL: ENSMUSP00000058008 (fasta)

Gene Model

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

AlphaFold

Q6P3A4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061835
AA Change: D222V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058008
Gene: ENSMUSG00000049598
AA Change: D222V

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

probably damaging
Transcript: ENSMUST00000177086
AA Change: D110V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134997
Gene: ENSMUSG00000049598
AA Change: D110V

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,246,904 (GRCm39)	Y485H	probably benign	Het
Actl7a	T	A	4: 56,743,768 (GRCm39)	H98Q	probably damaging	Het
Adam15	G	A	3: 89,252,917 (GRCm39)	T267I	probably benign	Het
Ankrd17	T	C	5: 90,391,835 (GRCm39)	H1945R	possibly damaging	Het
Baiap3	A	G	17: 25,465,827 (GRCm39)	I585T	probably benign	Het
Bcl6	T	C	16: 23,791,652 (GRCm39)	D234G	probably damaging	Het
Cbx3	T	C	6: 51,452,281 (GRCm39)	V32A	probably damaging	Het
Ccdc127	T	C	13: 74,508,751 (GRCm39)	F50S	unknown	Het
Ccdc15	T	C	9: 37,226,555 (GRCm39)	E473G	probably benign	Het
Clasp2	A	G	9: 113,721,482 (GRCm39)	D763G	possibly damaging	Het
Dab2	T	A	15: 6,451,824 (GRCm39)	F147I	probably damaging	Het
Dcaf1	G	A	9: 106,735,914 (GRCm39)	G954D	probably damaging	Het
Etv1	T	C	12: 38,830,935 (GRCm39)	M1T	probably null	Het
F2r	T	A	13: 95,741,247 (GRCm39)	D96V	possibly damaging	Het
Fancm	A	G	12: 65,149,424 (GRCm39)	D730G	probably benign	Het
Fbf1	T	C	11: 116,037,565 (GRCm39)	I892V	probably benign	Het
Gbp8	T	C	5: 105,198,735 (GRCm39)	N60S	probably benign	Het
Gm12790	T	C	4: 101,825,280 (GRCm39)	I45V	probably benign	Het
Herc1	G	A	9: 66,377,598 (GRCm39)	V3455I	probably damaging	Het
Hic1	T	C	11: 75,056,411 (GRCm39)	D826G	possibly damaging	Het
Hmcn2	A	G	2: 31,234,485 (GRCm39)	Y300C	possibly damaging	Het
Ifit1	A	G	19: 34,625,068 (GRCm39)	Q68R	probably benign	Het
Igdcc4	A	G	9: 65,030,020 (GRCm39)	Y309C	probably damaging	Het
Itpr3	T	C	17: 27,326,711 (GRCm39)		probably null	Het
Kat7	T	C	11: 95,168,415 (GRCm39)	K414E	probably damaging	Het
Lmnb2	A	T	10: 80,740,982 (GRCm39)	L260Q	probably damaging	Het
Mapk1	T	C	16: 16,843,930 (GRCm39)	I215T	noncoding transcript	Het
Ntpcr	G	T	8: 126,464,159 (GRCm39)		probably null	Het
Ntrk3	C	A	7: 77,900,518 (GRCm39)	C607F	probably damaging	Het
Or10ag54	A	T	2: 87,099,545 (GRCm39)	H119L	probably benign	Het
Or56a4	A	G	7: 104,806,631 (GRCm39)	I86T	probably damaging	Het
Or5w13	T	A	2: 87,523,705 (GRCm39)	I174F	probably damaging	Het
Pcdh15	T	C	10: 74,191,707 (GRCm39)	V601A	probably damaging	Het
Plagl2	A	G	2: 153,074,239 (GRCm39)	C221R	probably damaging	Het
Shf	A	G	2: 122,179,968 (GRCm39)	Y195H	probably damaging	Het
Tapbpl	T	A	6: 125,203,684 (GRCm39)	Y332F	probably damaging	Het
Tbx15	G	T	3: 99,259,305 (GRCm39)	C392F	probably damaging	Het
Ubxn7	T	C	16: 32,194,094 (GRCm39)	L222P	probably benign	Het
Xirp2	A	G	2: 67,346,009 (GRCm39)	E2750G	probably damaging	Het
Zfp870	A	G	17: 33,102,663 (GRCm39)	V222A	possibly 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
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
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'- TTCAGCAAGGGGAGTATGGGTC -3'
(R):5'- GCTTCCAGCTGCTCTAAACG -3'

Sequencing Primer
(F):5'- ATGGGTCAGCATTAGAGTGTGC -3'
(R):5'- AGAGTTTATCTGCTATCCAATCCCGG -3'

Posted On

2020-07-13