Mutagenetix > Incidental Mutation

Incidental Mutation 'R1689:Vsig10'

189563

Institutional Source

Beutler Lab

Gene Symbol

Vsig10

Ensembl Gene

ENSMUSG00000066894

Gene Name

V-set and immunoglobulin domain containing 10

Synonyms

MMRRC Submission

039722-MU

Accession Numbers

Genbank: NM_001033311; MGI: 2448533

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1689 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117319083-117355005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117352760 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 544 (D544G)

Ref Sequence

ENSEMBL: ENSMUSP00000107598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031309] [ENSMUST00000086464] [ENSMUST00000111967]

AlphaFold

D3YX43

Predicted Effect

probably benign
Transcript: ENSMUST00000031309

SMART Domains

Protein: ENSMUSP00000031309
Gene: ENSMUSG00000029364

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Blast:WD40	17	54	5e-17	BLAST
WD40	81	139	3.57e0	SMART
WD40	142	182	1.43e-9	SMART
WD40	186	225	1.59e-7	SMART
WD40	228	267	7.16e-10	SMART
WD40	270	321	6.53e-4	SMART
WD40	324	361	6.42e-1	SMART
SOCS	360	403	5.56e-17	SMART
SOCS_box	366	402	1.16e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086464
AA Change: D517G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000083655
Gene: ENSMUSG00000066894
AA Change: D517G

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
IG	23	114	4.03e-8	SMART
IG	132	214	9.49e-5	SMART
Pfam:Ig_2	215	300	2.6e-2	PFAM
Pfam:Ig_3	216	284	3.5e-4	PFAM
IGc2	313	384	1.12e-6	SMART
transmembrane domain	403	425	N/A	INTRINSIC
coiled coil region	446	481	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111967
AA Change: D544G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107598
Gene: ENSMUSG00000066894
AA Change: D544G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	50	141	4.03e-8	SMART
IG	159	241	9.49e-5	SMART
Blast:IG_like	248	327	2e-33	BLAST
IGc2	340	411	1.12e-6	SMART
transmembrane domain	430	452	N/A	INTRINSIC
coiled coil region	473	508	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147182

SMART Domains

Protein: ENSMUSP00000125808
Gene: ENSMUSG00000066894

Domain	Start	End	E-Value	Type
Blast:IG_like	1	41	3e-14	BLAST
IGc2	54	125	1.12e-6	SMART
transmembrane domain	144	166	N/A	INTRINSIC
coiled coil region	187	222	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

Allele List at MGI

All alleles(11) : Gene trapped(11)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,120,403	K896R	probably benign	Het
Adcy9	A	T	16: 4,297,562		probably null	Het
Adgre1	T	C	17: 57,449,921	F726S	probably benign	Het
Ahctf1	A	T	1: 179,768,383	S148T	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,780,688	A289D	probably benign	Het
Amotl1	T	C	9: 14,593,222	Y230C	probably damaging	Het
Armc6	A	T	8: 70,229,537	S65R	probably benign	Het
Atad2b	T	A	12: 5,034,575	Y1440*	probably null	Het
Atf6b	T	A	17: 34,650,302	D164E	probably damaging	Het
B020004J07Rik	T	A	4: 101,837,179	K169I	possibly damaging	Het
B4galt6	C	T	18: 20,706,496	S127N	probably benign	Het
Bcl11a	A	T	11: 24,163,167	Y170F	probably damaging	Het
Bcl11a	A	T	11: 24,164,406	D583V	possibly damaging	Het
Btnl1	T	A	17: 34,381,208	Y228*	probably null	Het
C130060K24Rik	A	G	6: 65,381,607	N105S	possibly damaging	Het
Cav2	A	G	6: 17,281,422	H21R	probably benign	Het
Celsr2	T	A	3: 108,407,304	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,188,873		probably null	Het
Cysltr2	T	C	14: 73,030,030	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dgkh	A	T	14: 78,618,544	M363K	possibly damaging	Het
Eml5	C	T	12: 98,830,935	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,725,476	T425A	probably damaging	Het
Ephx2	T	A	14: 66,087,026	K373*	probably null	Het
F5	G	C	1: 164,198,917	R1686P	probably damaging	Het
Fbxw10	A	T	11: 62,860,036	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,077,617	S443G	probably damaging	Het
Fdft1	T	C	14: 63,156,689	E191G	probably benign	Het
Fgd2	A	G	17: 29,363,722	E26G	probably benign	Het
Gabra4	T	C	5: 71,633,542		probably null	Het
Gc	A	G	5: 89,441,200		probably null	Het
Heatr1	T	A	13: 12,424,625	D1361E	probably benign	Het
Hid1	A	G	11: 115,360,357	F118L	probably damaging	Het
Igsf8	G	T	1: 172,318,937	G564W	probably damaging	Het
Il12rb2	A	G	6: 67,336,760	V4A	probably benign	Het
Irak3	T	C	10: 120,146,552	E335G	probably damaging	Het
Itgb8	T	G	12: 119,170,820	Q504P	probably benign	Het
Kbtbd12	A	T	6: 88,618,585	Y88N	probably damaging	Het
Klk1b5	T	C	7: 44,220,545	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,084,753	I135N	probably damaging	Het
Lrp2	G	T	2: 69,503,529	T1456K	probably benign	Het
Mrgprd	C	A	7: 145,321,717	Y108*	probably null	Het
Muc6	C	T	7: 141,647,998	G742D	probably damaging	Het
Nalcn	T	A	14: 123,285,254	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,226,082	Y126C	probably damaging	Het
Olfr125	T	C	17: 37,835,604	S202P	possibly damaging	Het
Olfr356	A	G	2: 36,937,977	N286S	probably damaging	Het
Olfr867	A	T	9: 20,055,126	N112K	possibly damaging	Het
Pacs1	G	T	19: 5,272,615		probably benign	Het
Pappa2	A	G	1: 158,957,398	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,171,239	G176D	probably damaging	Het
Ptpra	T	C	2: 130,503,492	F5L	probably benign	Het
Ralgapa1	A	G	12: 55,676,767	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Senp2	T	A	16: 22,026,666	Y217N	probably damaging	Het
Sned1	C	T	1: 93,283,372	R1061C	probably damaging	Het
Spag16	C	T	1: 70,461,118	T535I	probably benign	Het
Supt20	T	A	3: 54,712,162	L355*	probably null	Het
Tmem132b	A	G	5: 125,787,614	H928R	possibly damaging	Het
Tpo	A	T	12: 30,098,246	L552H	probably damaging	Het
Tsfm	A	T	10: 127,028,455	N130K	probably damaging	Het
Usp48	T	A	4: 137,656,107		probably null	Het
Vsig10l	C	T	7: 43,465,368	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,445,596	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,734,191	D60V	probably damaging	Het

Other mutations in Vsig10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Vsig10	APN	5	117338414	missense	probably benign	0.00
IGL00340:Vsig10	APN	5	117351587	missense	probably benign	0.03
IGL01082:Vsig10	APN	5	117334905	missense	probably benign	0.33
IGL01285:Vsig10	APN	5	117324889	missense	probably benign	0.43
IGL01790:Vsig10	APN	5	117338314	missense	probably damaging	1.00
IGL03004:Vsig10	APN	5	117325075	missense	probably damaging	1.00
D3080:Vsig10	UTSW	5	117343819	missense	probably damaging	1.00
R0101:Vsig10	UTSW	5	117335069	critical splice donor site	probably null
R0403:Vsig10	UTSW	5	117338461	missense	probably benign	0.05
R0674:Vsig10	UTSW	5	117343846	missense	probably damaging	1.00
R1437:Vsig10	UTSW	5	117351570	missense	probably damaging	0.96
R1710:Vsig10	UTSW	5	117351654	missense	probably benign
R1765:Vsig10	UTSW	5	117318815	unclassified	probably benign
R4422:Vsig10	UTSW	5	117324921	missense	probably benign	0.00
R4541:Vsig10	UTSW	5	117352816	utr 3 prime	probably benign
R4909:Vsig10	UTSW	5	117338243	missense	probably benign	0.31
R4999:Vsig10	UTSW	5	117343975	missense	probably damaging	1.00
R5855:Vsig10	UTSW	5	117338270	missense	probably damaging	1.00
R5866:Vsig10	UTSW	5	117352749	critical splice acceptor site	probably null
R6214:Vsig10	UTSW	5	117343924	missense	probably damaging	1.00
R6418:Vsig10	UTSW	5	117348296	missense	probably benign	0.03
R6505:Vsig10	UTSW	5	117351759	missense	possibly damaging	0.95
R6854:Vsig10	UTSW	5	117338407	missense	probably benign	0.36
R7121:Vsig10	UTSW	5	117343902	missense	probably damaging	1.00
R7596:Vsig10	UTSW	5	117334783	missense	possibly damaging	0.46
R8066:Vsig10	UTSW	5	117351784	missense	probably benign	0.00
R8335:Vsig10	UTSW	5	117348370	missense	probably damaging	1.00
R8787:Vsig10	UTSW	5	117334916	missense	probably benign	0.18
R9026:Vsig10	UTSW	5	117338258	missense	probably benign	0.00
R9257:Vsig10	UTSW	5	117325066	missense	probably benign	0.29
R9386:Vsig10	UTSW	5	117325075	missense	probably damaging	1.00
R9474:Vsig10	UTSW	5	117325039	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTTGGGTCCCACCTCATGGACTG -3'
(R):5'- AAGAGATGCTGTGCCTGTGCTG -3'

Sequencing Primer
(F):5'- tgggaagtggaagcggg -3'
(R):5'- TGCAGAGACCCCAGCAG -3'

Posted On

2014-05-14