Mutagenetix > Incidental Mutation

Incidental Mutation 'R0167:Vstm2a'

24236

Institutional Source

Beutler Lab

Gene Symbol

Vstm2a

Ensembl Gene

ENSMUSG00000048834

Gene Name

V-set and transmembrane domain containing 2A

Synonyms

Vstm2, 9330184N17Rik

MMRRC Submission

038443-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0167 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

16207742-16234551 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16208044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 13 (F13I)

Ref Sequence

ENSEMBL: ENSMUSP00000105274 (fasta)

Gene Model

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

AlphaFold

Q8R0A6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109645
AA Change: F13I

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105272
Gene: ENSMUSG00000048834
AA Change: F13I

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: F13I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105274
Gene: ENSMUSG00000048834
AA Change: F13I

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

noncoding transcript
Transcript: ENSMUST00000208440

Predicted Effect

probably benign
Transcript: ENSMUST00000208926

Meta Mutation Damage Score

0.0672

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

95% (58/61)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,806,969 (GRCm39)	F431L	probably damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Bltp3a	C	T	17: 28,099,176 (GRCm39)	T246M	possibly damaging	Het
Bsn	T	C	9: 108,003,185 (GRCm39)	T407A	probably benign	Het
Ccdc96	T	C	5: 36,642,497 (GRCm39)	F168L	probably benign	Het
Cckar	A	T	5: 53,863,795 (GRCm39)	S55R	probably damaging	Het
Cdh5	A	C	8: 104,863,367 (GRCm39)	I426L	possibly damaging	Het
Clcn1	T	C	6: 42,263,770 (GRCm39)	Y24H	probably damaging	Het
Clpx	G	A	9: 65,224,019 (GRCm39)	R271K	possibly damaging	Het
Col6a3	C	T	1: 90,725,895 (GRCm39)	G1978D	probably damaging	Het
Cpne2	T	C	8: 95,295,207 (GRCm39)		probably benign	Het
D630023F18Rik	A	G	1: 65,156,340 (GRCm39)	V51A	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dlk2	C	A	17: 46,613,530 (GRCm39)	R262S	possibly damaging	Het
Dubr	G	T	16: 50,553,007 (GRCm39)		noncoding transcript	Het
Elane	T	A	10: 79,722,933 (GRCm39)		probably null	Het
Eya2	T	G	2: 165,558,032 (GRCm39)	S209R	possibly damaging	Het
Fam171a1	C	T	2: 3,187,469 (GRCm39)	S112L	probably damaging	Het
Fsip2	T	A	2: 82,811,151 (GRCm39)	M2490K	possibly damaging	Het
Galnt14	T	C	17: 73,829,715 (GRCm39)	T277A	probably damaging	Het
Golga1	T	C	2: 38,937,660 (GRCm39)	N128S	probably benign	Het
H1f6	T	C	13: 23,879,886 (GRCm39)	V13A	probably benign	Het
Hdac2	T	C	10: 36,876,368 (GRCm39)	V461A	probably benign	Het
Hey2	A	G	10: 30,716,661 (GRCm39)	V34A	probably benign	Het
Ift22	T	C	5: 136,940,745 (GRCm39)	C137R	probably benign	Het
Lrp2	T	C	2: 69,256,002 (GRCm39)	D4657G	possibly damaging	Het
Lrrn3	T	A	12: 41,504,014 (GRCm39)	Q101L	probably damaging	Het
Med25	A	G	7: 44,532,521 (GRCm39)		probably null	Het
Mup5	T	A	4: 61,752,019 (GRCm39)		probably null	Het
Or51aa5	A	T	7: 103,166,708 (GRCm39)	Y294*	probably null	Het
Or5ac23	A	T	16: 59,149,337 (GRCm39)	C178*	probably null	Het
Or9q2	T	C	19: 13,772,931 (GRCm39)	T15A	probably benign	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Parg	T	C	14: 31,939,693 (GRCm39)		probably null	Het
Prep	A	G	10: 45,034,326 (GRCm39)		probably null	Het
Prss1l	T	A	6: 41,373,195 (GRCm39)		probably benign	Het
Psip1	T	C	4: 83,385,055 (GRCm39)		probably null	Het
Rbbp8	T	A	18: 11,793,979 (GRCm39)	Y30*	probably null	Het
Rhbdd1	T	C	1: 82,320,505 (GRCm39)	V163A	probably benign	Het
Setd2	T	A	9: 110,402,850 (GRCm39)	N1830K	probably damaging	Het
Shc4	T	G	2: 125,564,933 (GRCm39)	N122T	probably benign	Het
Shroom3	T	C	5: 93,096,254 (GRCm39)		probably benign	Het
Snx14	A	T	9: 88,289,469 (GRCm39)	L261Q	probably damaging	Het
St8sia1	A	G	6: 142,859,907 (GRCm39)		probably benign	Het
Thbs2	A	T	17: 14,887,787 (GRCm39)		probably benign	Het
Tpp2	T	C	1: 44,009,648 (GRCm39)	V494A	probably benign	Het
Trdmt1	A	T	2: 13,520,829 (GRCm39)	F358I	probably damaging	Het
Ttn	T	A	2: 76,719,867 (GRCm39)		probably benign	Het
Uggt1	A	G	1: 36,209,278 (GRCm39)		probably null	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Zfp804a	T	G	2: 82,086,860 (GRCm39)	F230V	probably damaging	Het

Other mutations in Vstm2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Vstm2a	APN	11	16,231,874 (GRCm39)	missense	possibly damaging	0.51
popiah	UTSW	11	16,213,041 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TAGTCGCAATCCCCTGTGTCCAAG -3'
(R):5'- CTGAACTCACCCATCATTACCTGGC -3'

Sequencing Primer
(F):5'- GTCCAAGCTACTCTTTGCTATGAG -3'
(R):5'- AGATGTTTCTCGGAAACCTGGC -3'

Posted On

2013-04-16