Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Vstm2a'

49331

Institutional Source

Beutler Lab

Gene Symbol

Vstm2a

Ensembl Gene

ENSMUSG00000048834

Gene Name

V-set and transmembrane domain containing 2A

Synonyms

9330184N17Rik, Vstm2

MMRRC Submission

038725-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16257724-16427310 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16263041 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 142 (A142V)

Ref Sequence

ENSEMBL: ENSMUSP00000105272 (fasta)

Gene Model

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

AlphaFold

Q8R0A6

Predicted Effect

probably damaging
Transcript: ENSMUST00000109645
AA Change: A142V

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

SMART Domains

Protein: ENSMUSP00000105272
Gene: ENSMUSG00000048834
AA Change: A142V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109647
AA Change: A142V

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105274
Gene: ENSMUSG00000048834
AA Change: A142V

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

unknown
Transcript: ENSMUST00000208926
AA Change: A123V

Meta Mutation Damage Score

0.1668

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,531,763		probably benign	Het
Abcb1b	A	T	5: 8,864,113		probably null	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Arpp21	A	G	9: 112,126,505	V522A	probably benign	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
Fam83a	T	A	15: 58,009,811	N345K	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm13089	G	T	4: 143,698,020	C284*	probably null	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hid1	A	T	11: 115,348,809	I765N	probably damaging	Het
Hmmr	A	G	11: 40,709,989	V518A	unknown	Het
Itgb6	A	G	2: 60,669,197	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Morc2b	G	C	17: 33,135,932	Y955*	probably null	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neil3	A	T	8: 53,638,775		probably null	Het
Nrg1	T	C	8: 31,831,245		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,372,774	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ttll6	G	A	11: 96,154,756	A600T	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Wfs1	T	A	5: 36,973,722		probably benign	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	Het

Other mutations in Vstm2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Vstm2a	APN	11	16281874	missense	possibly damaging	0.51
popiah	UTSW	11	16263041	missense	probably damaging	1.00
R0167:Vstm2a	UTSW	11	16258044	missense	probably damaging	0.99
R0314:Vstm2a	UTSW	11	16368388	splice site	probably benign
R0480:Vstm2a	UTSW	11	16263240	missense	probably damaging	1.00
R0613:Vstm2a	UTSW	11	16263140	missense	probably damaging	1.00
R0788:Vstm2a	UTSW	11	16259968	missense	probably damaging	1.00
R1750:Vstm2a	UTSW	11	16263166	missense	possibly damaging	0.49
R1934:Vstm2a	UTSW	11	16409734	missense	unknown
R2066:Vstm2a	UTSW	11	16261483	missense	probably benign	0.09
R2101:Vstm2a	UTSW	11	16263191	missense	probably benign	0.19
R2251:Vstm2a	UTSW	11	16368273	missense	probably benign	0.00
R4084:Vstm2a	UTSW	11	16263098	missense	probably damaging	1.00
R4093:Vstm2a	UTSW	11	16259884	missense	probably damaging	0.98
R4745:Vstm2a	UTSW	11	16263061	missense	probably damaging	1.00
R4978:Vstm2a	UTSW	11	16261460	missense	possibly damaging	0.82
R5533:Vstm2a	UTSW	11	16263125	missense	possibly damaging	0.49
R5873:Vstm2a	UTSW	11	16258044	missense	probably damaging	0.99
R5894:Vstm2a	UTSW	11	16261483	missense	probably benign	0.09
R7094:Vstm2a	UTSW	11	16257990	unclassified	probably benign
R7753:Vstm2a	UTSW	11	16263040	missense	probably damaging	1.00
R8313:Vstm2a	UTSW	11	16281898	missense	probably damaging	1.00
R8336:Vstm2a	UTSW	11	16257801	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CACTCTGGCACTGCTAAAATTGCAC -3'
(R):5'- ATGCTACTGAACCGAGCTTTGGG -3'

Sequencing Primer
(F):5'- ACTTATGACCTCTCAAGTAGGC -3'
(R):5'- ACCGAGCTTTGGGTAGCAG -3'

Posted On

2013-06-12