Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01024:Vstm2a'

53899

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vstm2a

Ensembl Gene

ENSMUSG00000048834

Gene Name

V-set and transmembrane domain containing 2A

Synonyms

Vstm2, 9330184N17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01024

Quality Score

Status

Chromosome

Chromosomal Location

16207742-16234551 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16231874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 223 (V223D)

Ref Sequence

ENSEMBL: ENSMUSP00000105272 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109645] [ENSMUST00000109647]

AlphaFold

Q8R0A6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109645
AA Change: V223D

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105272
Gene: ENSMUSG00000048834
AA Change: V223D

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	33	149	1.32e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109647

SMART Domains

Protein: ENSMUSP00000105274
Gene: ENSMUSG00000048834

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	33	149	1.32e-12	SMART
low complexity region	266	280	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208440

Predicted Effect

probably benign
Transcript: ENSMUST00000208926

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,767,040 (GRCm39)	V209A	probably benign	Het
Abca6	T	A	11: 110,087,968 (GRCm39)	Y1053F	probably benign	Het
Acot12	C	T	13: 91,929,330 (GRCm39)	Q386*	probably null	Het
Adamts16	A	G	13: 70,943,603 (GRCm39)	V336A	probably benign	Het
Ankrd49	A	G	9: 14,694,099 (GRCm39)	F23L	probably damaging	Het
Aspm	A	T	1: 139,405,862 (GRCm39)	H1583L	possibly damaging	Het
Atp6v0a1	A	G	11: 100,939,265 (GRCm39)	I677V	probably benign	Het
Brinp1	A	T	4: 68,680,731 (GRCm39)	W600R	probably damaging	Het
Ccdc185	T	C	1: 182,574,988 (GRCm39)	E567G	possibly damaging	Het
Clip2	T	C	5: 134,539,066 (GRCm39)	D445G	probably damaging	Het
Elp5	T	C	11: 69,859,248 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,570 (GRCm39)	M1V	probably null	Het
Gtf2a1l	A	G	17: 88,978,719 (GRCm39)	K40R	probably damaging	Het
Hdc	A	G	2: 126,445,766 (GRCm39)	V246A	probably benign	Het
Hectd2	T	A	19: 36,583,793 (GRCm39)	F479L	probably damaging	Het
Hipk1	G	T	3: 103,667,952 (GRCm39)	N538K	probably benign	Het
Kif27	T	A	13: 58,436,015 (GRCm39)	E1259D	possibly damaging	Het
Klhdc2	T	A	12: 69,352,610 (GRCm39)	N256K	probably benign	Het
Krt71	C	T	15: 101,645,109 (GRCm39)	A401T	probably damaging	Het
Mapk3	A	T	7: 126,363,946 (GRCm39)	K312*	probably null	Het
Med12l	G	T	3: 58,980,762 (GRCm39)	S365I	probably damaging	Het
Mgam	A	G	6: 40,619,944 (GRCm39)	K11R	probably benign	Het
Nox3	A	T	17: 3,733,290 (GRCm39)	I187N	probably damaging	Het
Nudcd1	T	A	15: 44,284,222 (GRCm39)	M55L	probably benign	Het
Or1a1b	A	T	11: 74,097,481 (GRCm39)	L187Q	probably damaging	Het
Or4f59	A	T	2: 111,872,716 (GRCm39)	F220L	probably benign	Het
Or8b57	A	G	9: 40,004,029 (GRCm39)	S78P	probably damaging	Het
Pard6g	T	C	18: 80,123,037 (GRCm39)		probably benign	Het
Pbrm1	G	A	14: 30,774,217 (GRCm39)	R461H	probably damaging	Het
Ppm1f	C	A	16: 16,741,633 (GRCm39)	T369K	probably benign	Het
Ppp1r16b	C	T	2: 158,582,736 (GRCm39)		probably benign	Het
Pramel29	A	T	4: 143,935,045 (GRCm39)	I232K	possibly damaging	Het
Prom2	T	C	2: 127,383,059 (GRCm39)	N61S	probably benign	Het
Psmc2	T	C	5: 22,006,196 (GRCm39)		probably benign	Het
Psme2	A	G	14: 55,825,893 (GRCm39)		probably benign	Het
Ptprc	T	C	1: 138,008,650 (GRCm39)	H655R	probably damaging	Het
Pxdn	A	C	12: 30,037,098 (GRCm39)	N292T	probably damaging	Het
Rapgef2	T	C	3: 78,977,445 (GRCm39)	I1301V	probably benign	Het
Rnase11	T	C	14: 51,287,321 (GRCm39)	I78V	probably benign	Het
Rpl41	A	G	10: 128,384,246 (GRCm39)		probably benign	Het
Sgf29	G	A	7: 126,264,103 (GRCm39)	R56Q	possibly damaging	Het
Sis	A	G	3: 72,819,209 (GRCm39)	L1449S	probably damaging	Het
Slc34a2	T	A	5: 53,224,972 (GRCm39)	V371D	possibly damaging	Het
Son	C	A	16: 91,452,798 (GRCm39)	T515K	probably damaging	Het
Tbx15	A	T	3: 99,223,562 (GRCm39)	D250V	probably damaging	Het
Thoc2l	T	G	5: 104,669,612 (GRCm39)	V1378G	probably benign	Het
Tmem171	T	A	13: 98,823,026 (GRCm39)		probably null	Het
Ugt2b36	C	T	5: 87,228,728 (GRCm39)		probably null	Het
Vill	G	A	9: 118,899,418 (GRCm39)		probably null	Het
Vmn2r22	A	G	6: 123,615,012 (GRCm39)	F193L	probably damaging	Het
Vmn2r95	C	T	17: 18,672,590 (GRCm39)		probably benign	Het

Other mutations in Vstm2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
popiah	UTSW	11	16,213,041 (GRCm39)	missense	probably damaging	1.00
R0167:Vstm2a	UTSW	11	16,208,044 (GRCm39)	missense	probably damaging	0.99
R0314:Vstm2a	UTSW	11	16,318,388 (GRCm39)	splice site	probably benign
R0480:Vstm2a	UTSW	11	16,213,240 (GRCm39)	missense	probably damaging	1.00
R0533:Vstm2a	UTSW	11	16,213,041 (GRCm39)	missense	probably damaging	1.00
R0613:Vstm2a	UTSW	11	16,213,140 (GRCm39)	missense	probably damaging	1.00
R0788:Vstm2a	UTSW	11	16,209,968 (GRCm39)	missense	probably damaging	1.00
R1750:Vstm2a	UTSW	11	16,213,166 (GRCm39)	missense	possibly damaging	0.49
R1934:Vstm2a	UTSW	11	16,359,734 (GRCm39)	missense	unknown
R2066:Vstm2a	UTSW	11	16,211,483 (GRCm39)	missense	probably benign	0.09
R2101:Vstm2a	UTSW	11	16,213,191 (GRCm39)	missense	probably benign	0.19
R2251:Vstm2a	UTSW	11	16,318,273 (GRCm39)	missense	probably benign	0.00
R4084:Vstm2a	UTSW	11	16,213,098 (GRCm39)	missense	probably damaging	1.00
R4093:Vstm2a	UTSW	11	16,209,884 (GRCm39)	missense	probably damaging	0.98
R4745:Vstm2a	UTSW	11	16,213,061 (GRCm39)	missense	probably damaging	1.00
R4978:Vstm2a	UTSW	11	16,211,460 (GRCm39)	missense	possibly damaging	0.82
R5533:Vstm2a	UTSW	11	16,213,125 (GRCm39)	missense	possibly damaging	0.49
R5873:Vstm2a	UTSW	11	16,208,044 (GRCm39)	missense	probably damaging	0.99
R5894:Vstm2a	UTSW	11	16,211,483 (GRCm39)	missense	probably benign	0.09
R7094:Vstm2a	UTSW	11	16,207,990 (GRCm39)	unclassified	probably benign
R7753:Vstm2a	UTSW	11	16,213,040 (GRCm39)	missense	probably damaging	1.00
R8313:Vstm2a	UTSW	11	16,231,898 (GRCm39)	missense	probably damaging	1.00
R8336:Vstm2a	UTSW	11	16,207,801 (GRCm39)	unclassified	probably benign

Posted On

2013-06-28