Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Vsig2'

19106

Institutional Source

Beutler Lab

Gene Symbol

Vsig2

Ensembl Gene

ENSMUSG00000001943

Gene Name

V-set and immunoglobulin domain containing 2

Synonyms

2210413P10Rik, CTX, CTM, 1190004B15Rik

MMRRC Submission

038308-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R0013 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37450551-37455501 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 37453872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002008] [ENSMUST00000002011] [ENSMUST00000065668] [ENSMUST00000213699] [ENSMUST00000215271] [ENSMUST00000215957]

AlphaFold

Q9Z109

Predicted Effect

probably benign
Transcript: ENSMUST00000002008

SMART Domains

Protein: ENSMUSP00000002008
Gene: ENSMUSG00000001943

Domain	Start	End	E-Value	Type
IGv	41	124	4.03e-8	SMART
IGc2	158	225	1.06e-7	SMART
transmembrane domain	243	265	N/A	INTRINSIC
low complexity region	315	326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000002011

SMART Domains

Protein: ENSMUSP00000002011
Gene: ENSMUSG00000001946

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
IG	39	153	4.82e-6	SMART
IGc2	168	234	1.17e-4	SMART
transmembrane domain	252	274	N/A	INTRINSIC
low complexity region	319	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000065668

SMART Domains

Protein: ENSMUSP00000070113
Gene: ENSMUSG00000053310

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
IQ	25	47	1.92e-3	SMART
low complexity region	52	77	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213502

Predicted Effect

probably benign
Transcript: ENSMUST00000213699

Predicted Effect

probably benign
Transcript: ENSMUST00000215271

Predicted Effect

probably benign
Transcript: ENSMUST00000215957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215710

Coding Region Coverage

1x: 79.5%
3x: 71.1%
10x: 47.6%
20x: 27.2%

Validation Efficiency

94% (77/82)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	A	T	18: 80,172,960 (GRCm39)	V483D	probably damaging	Het
Agl	A	T	3: 116,570,257 (GRCm39)	C911*	probably null	Het
Arap2	G	A	5: 62,840,827 (GRCm39)	L680F	probably damaging	Het
C2cd3	T	A	7: 100,065,269 (GRCm39)	L685H	probably damaging	Het
Dhx33	A	T	11: 70,884,461 (GRCm39)	F448L	probably damaging	Het
Dnmbp	G	A	19: 43,890,670 (GRCm39)	P366S	probably benign	Het
Elmod1	G	A	9: 53,820,185 (GRCm39)		probably benign	Het
Galnt18	T	C	7: 111,153,664 (GRCm39)	N320S	probably damaging	Het
Glp2r	C	A	11: 67,600,538 (GRCm39)	G437V	possibly damaging	Het
Gm9936	A	G	5: 114,995,408 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Ints11	T	C	4: 155,971,625 (GRCm39)	F315S	probably damaging	Het
Itga11	A	T	9: 62,683,895 (GRCm39)	N1059Y	possibly damaging	Het
Kdm5d	A	T	Y: 941,715 (GRCm39)	K1305N	probably benign	Homo
Mboat7	A	G	7: 3,686,821 (GRCm39)	S340P	probably damaging	Het
Mex3c	G	A	18: 73,723,622 (GRCm39)	A572T	probably benign	Het
Myo9a	A	T	9: 59,767,489 (GRCm39)		probably benign	Het
Myog	T	A	1: 134,217,973 (GRCm39)	H60Q	probably damaging	Het
Pgm5	A	C	19: 24,710,904 (GRCm39)		probably null	Het
Plb1	T	A	5: 32,506,959 (GRCm39)		probably benign	Het
Ppm1e	A	G	11: 87,139,884 (GRCm39)		probably benign	Het
Prss46	G	T	9: 110,679,123 (GRCm39)	S108I	probably damaging	Het
Ptma	C	T	1: 86,457,498 (GRCm39)		probably benign	Het
Ptprc	T	C	1: 138,041,297 (GRCm39)		probably null	Het
Rrn3	T	A	16: 13,630,977 (GRCm39)	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,239,231 (GRCm39)		probably benign	Het
Sis	A	G	3: 72,817,809 (GRCm39)	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,598,745 (GRCm39)	M1450V	probably benign	Het
Tppp	A	G	13: 74,169,479 (GRCm39)	K73R	possibly damaging	Het
Tut4	T	A	4: 108,388,152 (GRCm39)		probably benign	Het
Uba7	A	T	9: 107,855,448 (GRCm39)	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931 (GRCm39)	L171P	possibly damaging	Het
Zfp839	T	A	12: 110,834,820 (GRCm39)	S692T	possibly damaging	Het

Other mutations in Vsig2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02096:Vsig2	APN	9	37,451,251 (GRCm39)	missense	probably damaging	0.97
IGL03023:Vsig2	APN	9	37,453,708 (GRCm39)	missense	probably damaging	1.00
R0013:Vsig2	UTSW	9	37,453,872 (GRCm39)	splice site	probably benign
R0412:Vsig2	UTSW	9	37,453,986 (GRCm39)	missense	probably damaging	1.00
R3422:Vsig2	UTSW	9	37,452,775 (GRCm39)	missense	possibly damaging	0.70
R6917:Vsig2	UTSW	9	37,452,745 (GRCm39)	missense	probably benign	0.02
R8155:Vsig2	UTSW	9	37,455,329 (GRCm39)	missense	possibly damaging	0.54
R8290:Vsig2	UTSW	9	37,451,264 (GRCm39)	missense	probably benign	0.07
R9524:Vsig2	UTSW	9	37,455,335 (GRCm39)	missense	probably benign	0.00
R9682:Vsig2	UTSW	9	37,451,771 (GRCm39)	missense	probably benign	0.39
RF023:Vsig2	UTSW	9	37,450,559 (GRCm39)	splice site	probably null

Posted On

2013-03-25