Mutagenetix > Incidental Mutation

Incidental Mutation 'R0674:Vsig10'

218577

Institutional Source

Beutler Lab

Gene Symbol

Vsig10

Ensembl Gene

ENSMUSG00000066894

Gene Name

V-set and immunoglobulin domain containing 10

Synonyms

MMRRC Submission

038859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0674 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

117457331-117493071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 117481911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 367 (T367M)

Ref Sequence

ENSEMBL: ENSMUSP00000107598 (fasta)

Gene Model

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

AlphaFold

D3YX43

Predicted Effect

probably damaging
Transcript: ENSMUST00000086464
AA Change: T340M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083655
Gene: ENSMUSG00000066894
AA Change: T340M

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 damaging
Transcript: ENSMUST00000111967
AA Change: T367M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107598
Gene: ENSMUSG00000066894
AA Change: T367M

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: ENSMUST00000145052

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.3%
20x: 90.4%

Validation Efficiency

97% (124/128)

Allele List at MGI

All alleles(11) : Gene trapped(11)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	A	G	3: 89,657,130 (GRCm39)		probably benign	Het
Adgrl2	A	T	3: 148,543,315 (GRCm39)	M803K	possibly damaging	Het
Atp13a5	T	C	16: 29,067,102 (GRCm39)		probably benign	Het
Atp2a3	T	C	11: 72,872,711 (GRCm39)	I753T	probably damaging	Het
Bace2	G	A	16: 97,237,949 (GRCm39)	V467M	possibly damaging	Het
Bltp1	T	A	3: 37,098,775 (GRCm39)	V1134E	possibly damaging	Het
Ccser2	A	G	14: 36,640,548 (GRCm39)	C11R	possibly damaging	Het
Cd2ap	T	A	17: 43,156,283 (GRCm39)	I85F	possibly damaging	Het
Cd2bp2	C	T	7: 126,794,008 (GRCm39)	E94K	probably damaging	Het
Chrna3	C	A	9: 54,922,456 (GRCm39)	A451S	probably damaging	Het
Cmya5	C	A	13: 93,229,299 (GRCm39)	V1930F	probably damaging	Het
Csmd1	T	C	8: 16,050,550 (GRCm39)	T2229A	probably benign	Het
Csrnp2	A	T	15: 100,385,872 (GRCm39)	L122H	probably damaging	Het
Cyp11b2	G	A	15: 74,727,393 (GRCm39)	P96L	probably damaging	Het
Ddr1	G	T	17: 36,000,561 (GRCm39)	S368*	probably null	Het
E2f1	T	C	2: 154,406,029 (GRCm39)	K115E	probably damaging	Het
Erlec1	A	T	11: 30,885,073 (GRCm39)		probably benign	Het
Fus	T	A	7: 127,571,948 (GRCm39)		probably benign	Het
Gml	G	A	15: 74,685,709 (GRCm39)	T92I	probably damaging	Het
Herc1	T	C	9: 66,408,474 (GRCm39)	S4567P	probably damaging	Het
Iglc2	A	G	16: 19,017,591 (GRCm39)	S5P	probably benign	Het
Itgam	T	C	7: 127,715,390 (GRCm39)	V1028A	possibly damaging	Het
Krt222	T	A	11: 99,127,086 (GRCm39)	N178I	probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Luzp1	C	T	4: 136,270,768 (GRCm39)	T997I	possibly damaging	Het
Maml1	G	T	11: 50,148,885 (GRCm39)	Q952K	probably benign	Het
Map2	A	G	1: 66,452,361 (GRCm39)	E499G	probably damaging	Het
Map4k4	A	T	1: 40,042,975 (GRCm39)	H118L	probably damaging	Het
Myzap	T	C	9: 71,422,426 (GRCm39)	D382G	probably damaging	Het
Naip5	T	C	13: 100,359,707 (GRCm39)	T510A	probably benign	Het
Nek6	G	C	2: 38,448,916 (GRCm39)	G95R	possibly damaging	Het
Nphp3	T	C	9: 103,913,481 (GRCm39)		probably null	Het
Nr1d2	T	C	14: 18,215,086 (GRCm38)	S309G	probably benign	Het
Nrcam	A	T	12: 44,611,105 (GRCm39)	I570F	probably benign	Het
Oas1d	T	C	5: 121,058,049 (GRCm39)	I331T	probably benign	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or4f14	A	T	2: 111,743,018 (GRCm39)	F86I	probably benign	Het
Or51b6	T	C	7: 103,556,462 (GRCm39)	V272A	probably benign	Het
Pex5l	A	T	3: 33,006,765 (GRCm39)	W535R	probably damaging	Het
Pisd	C	T	5: 32,931,781 (GRCm39)	R202H	probably benign	Het
Plxna2	A	G	1: 194,331,783 (GRCm39)	N403S	probably benign	Het
Prdm12	A	G	2: 31,533,924 (GRCm39)	I180M	probably benign	Het
Prpf6	A	G	2: 181,273,767 (GRCm39)	T304A	probably benign	Het
Ptprm	G	A	17: 67,498,336 (GRCm39)	T35I	possibly damaging	Het
Ptx3	T	A	3: 66,132,148 (GRCm39)	I223N	probably damaging	Het
Pygb	G	A	2: 150,657,054 (GRCm39)		probably null	Het
Qrsl1	A	G	10: 43,771,997 (GRCm39)		probably benign	Het
Rad51ap2	T	C	12: 11,508,818 (GRCm39)		probably null	Het
Ralbp1	C	T	17: 66,159,748 (GRCm39)	R505H	probably benign	Het
Rimbp3	T	C	16: 17,030,601 (GRCm39)	S1342P	probably benign	Het
Slc22a14	C	A	9: 119,007,608 (GRCm39)	R267L	probably damaging	Het
Slco6c1	T	A	1: 97,032,498 (GRCm39)		probably benign	Het
Tcp1	T	C	17: 13,142,131 (GRCm39)	I375T	probably damaging	Het
Tiparp	T	C	3: 65,460,586 (GRCm39)	I525T	probably benign	Het
Tjp2	A	G	19: 24,108,680 (GRCm39)	L144P	probably benign	Het
Tssk2	A	G	16: 17,716,930 (GRCm39)	D111G	probably benign	Het
Ttn	T	C	2: 76,775,823 (GRCm39)	T1740A	possibly damaging	Het
Vmn2r102	T	A	17: 19,898,129 (GRCm39)	D381E	probably benign	Het
Wnt11	T	C	7: 98,495,735 (GRCm39)	C80R	probably damaging	Het
Zar1	T	A	5: 72,737,643 (GRCm39)		probably null	Het
Zfp52	A	T	17: 21,782,108 (GRCm39)	H652L	probably damaging	Het
Zpr1	T	A	9: 46,186,747 (GRCm39)	L194Q	probably damaging	Het

Other mutations in Vsig10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Vsig10	APN	5	117,476,479 (GRCm39)	missense	probably benign	0.00
IGL00340:Vsig10	APN	5	117,489,652 (GRCm39)	missense	probably benign	0.03
IGL01082:Vsig10	APN	5	117,472,970 (GRCm39)	missense	probably benign	0.33
IGL01285:Vsig10	APN	5	117,462,954 (GRCm39)	missense	probably benign	0.43
IGL01790:Vsig10	APN	5	117,476,379 (GRCm39)	missense	probably damaging	1.00
IGL03004:Vsig10	APN	5	117,463,140 (GRCm39)	missense	probably damaging	1.00
D3080:Vsig10	UTSW	5	117,481,884 (GRCm39)	missense	probably damaging	1.00
R0101:Vsig10	UTSW	5	117,473,134 (GRCm39)	critical splice donor site	probably null
R0403:Vsig10	UTSW	5	117,476,526 (GRCm39)	missense	probably benign	0.05
R1437:Vsig10	UTSW	5	117,489,635 (GRCm39)	missense	probably damaging	0.96
R1689:Vsig10	UTSW	5	117,490,825 (GRCm39)	missense	probably benign	0.00
R1710:Vsig10	UTSW	5	117,489,719 (GRCm39)	missense	probably benign
R1765:Vsig10	UTSW	5	117,456,880 (GRCm39)	unclassified	probably benign
R4422:Vsig10	UTSW	5	117,462,986 (GRCm39)	missense	probably benign	0.00
R4541:Vsig10	UTSW	5	117,490,881 (GRCm39)	utr 3 prime	probably benign
R4909:Vsig10	UTSW	5	117,476,308 (GRCm39)	missense	probably benign	0.31
R4999:Vsig10	UTSW	5	117,482,040 (GRCm39)	missense	probably damaging	1.00
R5855:Vsig10	UTSW	5	117,476,335 (GRCm39)	missense	probably damaging	1.00
R5866:Vsig10	UTSW	5	117,490,814 (GRCm39)	critical splice acceptor site	probably null
R6214:Vsig10	UTSW	5	117,481,989 (GRCm39)	missense	probably damaging	1.00
R6418:Vsig10	UTSW	5	117,486,361 (GRCm39)	missense	probably benign	0.03
R6505:Vsig10	UTSW	5	117,489,824 (GRCm39)	missense	possibly damaging	0.95
R6854:Vsig10	UTSW	5	117,476,472 (GRCm39)	missense	probably benign	0.36
R7121:Vsig10	UTSW	5	117,481,967 (GRCm39)	missense	probably damaging	1.00
R7596:Vsig10	UTSW	5	117,472,848 (GRCm39)	missense	possibly damaging	0.46
R8066:Vsig10	UTSW	5	117,489,849 (GRCm39)	missense	probably benign	0.00
R8335:Vsig10	UTSW	5	117,486,435 (GRCm39)	missense	probably damaging	1.00
R8787:Vsig10	UTSW	5	117,472,981 (GRCm39)	missense	probably benign	0.18
R9026:Vsig10	UTSW	5	117,476,323 (GRCm39)	missense	probably benign	0.00
R9257:Vsig10	UTSW	5	117,463,131 (GRCm39)	missense	probably benign	0.29
R9386:Vsig10	UTSW	5	117,463,140 (GRCm39)	missense	probably damaging	1.00
R9474:Vsig10	UTSW	5	117,463,104 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAGCAGTGTAACAGTGTTCGGTG -3'
(R):5'- AAGGCTCTTAACCTTTGGGGCCAC -3'

Sequencing Primer
(F):5'- ctttccttgtgcctcagtttc -3'
(R):5'- TTTGGGGCCACCCAGAG -3'

Posted On

2014-08-18