Mutagenetix > Incidental Mutations

Incidental Mutation 'R6235:Vsig10l'

504870

Institutional Source

Beutler Lab

Gene Symbol

Vsig10l

Ensembl Gene

ENSMUSG00000070604

Gene Name

V-set and immunoglobulin domain containing 10 like

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R6235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43463151-43472019 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43468972 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 798 (V798E)

Ref Sequence

ENSEMBL: ENSMUSP00000103611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107974] [ENSMUST00000107977] [ENSMUST00000203042] [ENSMUST00000203769]

Predicted Effect

probably benign
Transcript: ENSMUST00000107974

SMART Domains

Protein: ENSMUSP00000103608
Gene: ENSMUSG00000013367

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IG	39	130	1.7e-6	SMART
IGc2	145	202	4.45e-10	SMART
IGc2	229	298	1.69e-10	SMART
low complexity region	323	334	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107977
AA Change: V798E

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103611
Gene: ENSMUSG00000070604
AA Change: V798E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	28	52	N/A	INTRINSIC
IG	183	285	1.92e0	SMART
IG	298	383	2.15e-3	SMART
IGc2	406	465	4.19e-6	SMART
Blast:IG_like	582	649	1e-13	BLAST
transmembrane domain	764	786	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203152

Predicted Effect

probably benign
Transcript: ENSMUST00000203769
AA Change: V696E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144692
Gene: ENSMUSG00000070604
AA Change: V696E

Domain	Start	End	E-Value	Type
IG	81	183	8.1e-3	SMART
IG	196	281	9.2e-6	SMART
IGc2	304	363	1.8e-8	SMART
Blast:IG_like	480	547	9e-14	BLAST
transmembrane domain	662	684	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205247

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

95% (73/77)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	C	12: 113,491,710	F716L	probably benign	Het
Akip1	A	G	7: 109,707,413	M106V	probably benign	Het
Aldh1l1	A	T	6: 90,564,457	I278F	probably benign	Het
Aplnr	A	G	2: 85,137,626	T332A	probably benign	Het
Aqp4	A	G	18: 15,398,113	V197A	probably damaging	Het
Arid4a	A	T	12: 71,069,772		probably null	Het
Baiap2	A	T	11: 119,981,408	N99Y	probably damaging	Het
Ceacam1	A	T	7: 25,471,792		probably null	Het
Cep78	T	C	19: 15,976,486		probably null	Het
Cldn3	T	C	5: 134,986,719	F92S	possibly damaging	Het
Clec16a	C	A	16: 10,694,635	P812Q	probably damaging	Het
Cnga4	T	G	7: 105,407,699	Y336*	probably null	Het
Copg2	A	G	6: 30,816,071	I443T	probably damaging	Het
Crhbp	C	A	13: 95,443,850	A81S	probably damaging	Het
Csad	A	T	15: 102,178,606	V410D	probably damaging	Het
Ctps	G	A	4: 120,558,806	L207F	probably benign	Het
Dab2ip	A	G	2: 35,723,087	E1003G	probably damaging	Het
Ddx31	C	G	2: 28,844,842	A5G	probably benign	Het
Dnah12	A	T	14: 26,854,804	I3004F	probably damaging	Het
Fbxo15	A	G	18: 84,980,904		probably benign	Het
Fbxw28	C	A	9: 109,326,190	W356C	probably damaging	Het
Gimap6	G	T	6: 48,702,457	T215K	probably benign	Het
Gm5346	T	G	8: 43,625,912	N425T	probably benign	Het
Hspa4	C	T	11: 53,262,939	E702K	probably benign	Het
Hunk	A	G	16: 90,432,706	I152V	probably damaging	Het
Itk	T	C	11: 46,336,428	E456G	probably benign	Het
Krt40	G	A	11: 99,543,094	A22V	possibly damaging	Het
Lars2	T	C	9: 123,411,880	V204A	probably damaging	Het
Lipo1	A	G	19: 33,783,563	Y140H	probably damaging	Het
Lrp1	G	A	10: 127,588,177	R809W	probably damaging	Het
Magi3	C	T	3: 104,016,068	G1111D	probably damaging	Het
Mis18bp1	A	T	12: 65,158,408	V47E	probably damaging	Het
Mpdz	T	C	4: 81,385,281	E140G	probably damaging	Het
Myo1d	T	C	11: 80,692,944	I81V	probably benign	Het
Nek10	T	A	14: 14,821,113	Y26*	probably null	Het
Ntng2	C	A	2: 29,227,979	E152D	probably damaging	Het
Olfr1036	T	C	2: 86,075,166	L142P	possibly damaging	Het
Olfr1490	C	A	19: 13,654,781	C117*	probably null	Het
Otud3	A	T	4: 138,901,901	V185D	probably damaging	Het
Parp6	C	T	9: 59,630,815	R248W	probably benign	Het
Pcdhga7	A	G	18: 37,716,430	T497A	probably benign	Het
Ppp1r18	A	G	17: 35,873,877	E140G	probably damaging	Het
Prl3b1	T	C	13: 27,247,945	L151P	probably damaging	Het
Pth1r	C	T	9: 110,722,316	E572K	possibly damaging	Het
Ptprq	T	A	10: 107,635,338	T1401S	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,516	T480A	possibly damaging	Het
Rax	T	A	18: 65,935,161	Q291L	unknown	Het
Reck	T	C	4: 43,937,450	L734P	probably damaging	Het
Rgmb	A	G	17: 15,820,819	F169L	probably damaging	Het
Rhobtb3	T	C	13: 75,892,910	I426M	probably damaging	Het
Ring1	C	A	17: 34,023,306	A76S	probably damaging	Het
Robo3	T	G	9: 37,420,929	Y891S	probably damaging	Het
Rpusd2	A	G	2: 119,034,857	I12V	probably benign	Het
Rragd	T	C	4: 32,995,985	V165A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Ryr1	G	T	7: 29,116,181	Q95K	probably benign	Het
S1pr4	T	A	10: 81,498,882	N253Y	possibly damaging	Het
Scn3a	A	C	2: 65,461,335	V1689G	probably damaging	Het
Sdhb	A	G	4: 140,973,673	N147D	probably damaging	Het
Sdk1	A	T	5: 142,034,426	H913L	possibly damaging	Het
Serpina3i	T	A	12: 104,266,532	M232K	probably damaging	Het
Sipa1l2	A	T	8: 125,474,871	V646E	probably damaging	Het
Slc38a1	A	T	15: 96,578,792	I396N	probably benign	Het
Slc6a13	A	T	6: 121,302,794	E42D	probably benign	Het
Stard9	G	A	2: 120,713,546	V4442M	probably damaging	Het
Sumo3	T	A	10: 77,616,237		probably benign	Het
Syngap1	A	G	17: 26,958,130	I356V	probably benign	Het
Tcam1	C	T	11: 106,284,054	Q112*	probably null	Het
Tdp2	T	A	13: 24,840,395	L225*	probably null	Het
Tmprss7	A	G	16: 45,658,122	V747A	probably benign	Het
Ugt2b34	T	A	5: 86,906,364	Y186F	probably benign	Het
Usp37	G	T	1: 74,475,133	S293*	probably null	Het
Vmn1r36	A	G	6: 66,716,246	I109T	probably benign	Het
Zfp36l1	G	T	12: 80,112,822	C18*	probably null	Het
Zfp959	T	C	17: 55,897,427	Y152H	probably damaging	Het
Zfyve26	A	T	12: 79,249,599	C1949S	probably damaging	Het
Zswim9	T	A	7: 13,261,603	E209V	probably damaging	Het

Other mutations in Vsig10l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Vsig10l	APN	7	43465254	missense	probably damaging	1.00
IGL01390:Vsig10l	APN	7	43466465	missense	probably damaging	0.97
IGL02401:Vsig10l	APN	7	43464044	missense	probably damaging	1.00
IGL02404:Vsig10l	APN	7	43463747	missense	possibly damaging	0.85
IGL02514:Vsig10l	APN	7	43463914	missense	probably benign	0.02
IGL02636:Vsig10l	APN	7	43463578	missense	possibly damaging	0.53
IGL02805:Vsig10l	APN	7	43465242	missense	probably damaging	1.00
IGL02823:Vsig10l	APN	7	43466464	missense	probably damaging	1.00
IGL02827:Vsig10l	APN	7	43464869	missense	probably damaging	1.00
R0111:Vsig10l	UTSW	7	43468101	missense	probably damaging	0.97
R0394:Vsig10l	UTSW	7	43465455	missense	probably damaging	0.97
R0465:Vsig10l	UTSW	7	43467442	missense	probably damaging	1.00
R0632:Vsig10l	UTSW	7	43464137	missense	probably damaging	0.97
R1689:Vsig10l	UTSW	7	43465368	missense	possibly damaging	0.93
R1991:Vsig10l	UTSW	7	43467468	missense	possibly damaging	0.89
R2103:Vsig10l	UTSW	7	43467468	missense	possibly damaging	0.89
R2358:Vsig10l	UTSW	7	43468761	missense	probably benign	0.00
R3015:Vsig10l	UTSW	7	43467457	missense	possibly damaging	0.73
R4024:Vsig10l	UTSW	7	43468086	missense	probably benign	0.33
R4031:Vsig10l	UTSW	7	43465374	missense	probably damaging	1.00
R4807:Vsig10l	UTSW	7	43463749	missense	possibly damaging	0.53
R5020:Vsig10l	UTSW	7	43465317	nonsense	probably null
R5261:Vsig10l	UTSW	7	43470850	missense	probably damaging	1.00
R5317:Vsig10l	UTSW	7	43464823	missense	probably damaging	1.00
R5426:Vsig10l	UTSW	7	43464823	missense	probably damaging	0.97
R5656:Vsig10l	UTSW	7	43464151	nonsense	probably null
R5842:Vsig10l	UTSW	7	43468972	missense	probably benign	0.15
R6012:Vsig10l	UTSW	7	43468015	missense	probably damaging	1.00
R6309:Vsig10l	UTSW	7	43470973	splice site	probably null
R6994:Vsig10l	UTSW	7	43465067	missense	possibly damaging	0.71
R7250:Vsig10l	UTSW	7	43463675	missense	probably benign
R7397:Vsig10l	UTSW	7	43468007	missense	probably damaging	1.00
R7767:Vsig10l	UTSW	7	43463717	missense	probably damaging	0.96
R7956:Vsig10l	UTSW	7	43468070	missense	probably benign
R8086:Vsig10l	UTSW	7	43465452	missense	possibly damaging	0.92
R8139:Vsig10l	UTSW	7	43463729	missense	probably benign	0.00
R8297:Vsig10l	UTSW	7	43464107	missense	possibly damaging	0.50
R8341:Vsig10l	UTSW	7	43463954	missense	probably damaging	1.00
R8519:Vsig10l	UTSW	7	43464902	missense	probably benign	0.33
X0028:Vsig10l	UTSW	7	43463364	utr 3 prime	probably benign
X0067:Vsig10l	UTSW	7	43467490	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCGTTACCCAGGTAAGAG -3'
(R):5'- AGAAGCTACTTGTCCCGCAC -3'

Sequencing Primer
(F):5'- ATGCAACTGGGGCCAACTG -3'
(R):5'- TACTTGTCCCGCACAGTGG -3'

Posted On

2018-02-28