Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03023:Vsig2'

408043

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vsig2

Ensembl Gene

ENSMUSG00000001943

Gene Name

V-set and immunoglobulin domain containing 2

Synonyms

2210413P10Rik, CTX, CTM, 1190004B15Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03023

Quality Score

Status

Chromosome

Chromosomal Location

37450551-37455501 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37453708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 136 (Y136C)

Ref Sequence

ENSEMBL: ENSMUSP00000150115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002008] [ENSMUST00000002011] [ENSMUST00000065668] [ENSMUST00000213699] [ENSMUST00000215957] [ENSMUST00000215271] [ENSMUST00000214142]

AlphaFold

Q9Z109

Predicted Effect

probably damaging
Transcript: ENSMUST00000002008
AA Change: Y216C

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

SMART Domains

Protein: ENSMUSP00000002008
Gene: ENSMUSG00000001943
AA Change: Y216C

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: ENSMUST00000131832

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213502

Predicted Effect

probably damaging
Transcript: ENSMUST00000213699
AA Change: Y22C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215710

Predicted Effect

probably benign
Transcript: ENSMUST00000215957

Predicted Effect

probably damaging
Transcript: ENSMUST00000215271
AA Change: Y136C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000214142

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	G	3: 40,859,419 (GRCm39)	D28G	probably damaging	Het
Btaf1	C	T	19: 36,987,415 (GRCm39)	R1746C	possibly damaging	Het
Comp	T	C	8: 70,831,260 (GRCm39)		probably benign	Het
Cspg4b	A	G	13: 113,488,275 (GRCm39)	D99G	probably benign	Het
Cyp2d9	A	G	15: 82,339,719 (GRCm39)	T313A	probably damaging	Het
Cyp3a59	T	A	5: 146,022,660 (GRCm39)	D55E	probably benign	Het
Dysf	A	G	6: 84,169,989 (GRCm39)	Y1790C	probably damaging	Het
Fmo3	A	C	1: 162,786,034 (GRCm39)	F319V	probably benign	Het
Frem2	A	T	3: 53,563,049 (GRCm39)	V486D	probably benign	Het
Gucy2c	A	T	6: 136,679,794 (GRCm39)		probably null	Het
Hdac7	A	T	15: 97,695,838 (GRCm39)	Y674N	probably damaging	Het
Inpp5a	G	A	7: 139,105,702 (GRCm39)		probably null	Het
Jup	T	C	11: 100,271,518 (GRCm39)		probably benign	Het
Krt84	T	C	15: 101,436,880 (GRCm39)	T385A	possibly damaging	Het
Nbeal1	T	C	1: 60,292,572 (GRCm39)	Y1075H	probably damaging	Het
Nphp4	A	G	4: 152,608,692 (GRCm39)		probably null	Het
Or10ak11	A	T	4: 118,687,449 (GRCm39)	F63I	probably damaging	Het
Or12d17	A	G	17: 37,777,885 (GRCm39)	T263A	probably benign	Het
Or4p7	G	A	2: 88,221,687 (GRCm39)	C32Y	probably damaging	Het
Psmc4	T	A	7: 27,742,285 (GRCm39)	I264L	possibly damaging	Het
Rwdd4a	T	C	8: 47,995,803 (GRCm39)	V61A	probably benign	Het
Setx	A	G	2: 29,035,914 (GRCm39)	T800A	probably benign	Het
Vmn1r74	T	C	7: 11,581,257 (GRCm39)	C186R	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
R0013:Vsig2	UTSW	9	37,453,872 (GRCm39)	splice site	probably benign
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

2016-08-02