Mutagenetix > Incidental Mutation

Incidental Mutation 'R0788:Vstm2a'

76359

Institutional Source

Beutler Lab

Gene Symbol

Vstm2a

Ensembl Gene

ENSMUSG00000048834

Gene Name

V-set and transmembrane domain containing 2A

Synonyms

Vstm2, 9330184N17Rik

MMRRC Submission

038968-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16207742-16234551 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16209968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 65 (F65L)

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: F65L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105272
Gene: ENSMUSG00000048834
AA Change: F65L

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: F65L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105274
Gene: ENSMUSG00000048834
AA Change: F65L

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: F46L

Meta Mutation Damage Score

0.2226

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.0%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,610,468 (GRCm39)	Y380*	probably null	Het
4931406B18Rik	C	A	7: 43,148,623 (GRCm39)	S196I	probably damaging	Het
Ablim2	T	C	5: 36,015,245 (GRCm39)	S519P	probably benign	Het
Adnp2	A	C	18: 80,173,219 (GRCm39)	C397G	probably benign	Het
Aldh1l2	A	G	10: 83,352,028 (GRCm39)	S156P	probably damaging	Het
Bcl2l15	G	T	3: 103,740,794 (GRCm39)		probably null	Het
Brd9	T	A	13: 74,092,986 (GRCm39)		probably benign	Het
Cars2	A	C	8: 11,579,672 (GRCm39)	I262R	possibly damaging	Het
Ccdc106	T	C	7: 5,060,533 (GRCm39)		probably benign	Het
Cdh3	G	A	8: 107,268,047 (GRCm39)	V361M	probably benign	Het
Cdhr1	A	C	14: 36,809,332 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,225,468 (GRCm39)	I559T	possibly damaging	Het
Cdkn2aip	T	A	8: 48,166,798 (GRCm39)	Q3L	possibly damaging	Het
Chd1	G	T	17: 15,927,376 (GRCm39)	V10F	possibly damaging	Het
Col4a4	G	A	1: 82,502,717 (GRCm39)	P356S	unknown	Het
Col6a4	T	C	9: 105,949,197 (GRCm39)	K813E	probably benign	Het
Cttnbp2	G	A	6: 18,423,834 (GRCm39)	T830I	probably damaging	Het
Cyp2t4	A	G	7: 26,854,588 (GRCm39)	M23V	probably null	Het
Cyp3a16	T	C	5: 145,401,886 (GRCm39)	K59E	probably benign	Het
Dpysl5	G	A	5: 30,946,185 (GRCm39)		probably null	Het
E130308A19Rik	T	A	4: 59,719,847 (GRCm39)	Y460N	possibly damaging	Het
Ear6	T	A	14: 52,091,487 (GRCm39)	C11*	probably null	Het
Fat1	C	T	8: 45,477,020 (GRCm39)	T1999M	probably benign	Het
Gsdmd	T	A	15: 75,736,103 (GRCm39)	C77*	probably null	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,880,425 (GRCm39)		probably benign	Het
Kif28	A	T	1: 179,532,788 (GRCm39)		probably benign	Het
Krt6b	A	G	15: 101,585,954 (GRCm39)	I373T	probably damaging	Het
Lgr5	T	C	10: 115,288,902 (GRCm39)	T509A	probably damaging	Het
Mapkbp1	C	T	2: 119,854,482 (GRCm39)	P1354S	probably benign	Het
Nat10	A	G	2: 103,573,460 (GRCm39)	S346P	probably damaging	Het
Ncoa2	T	C	1: 13,237,113 (GRCm39)		probably benign	Het
Necap1	C	T	6: 122,858,495 (GRCm39)	R113W	probably damaging	Het
Or1l4	T	A	2: 37,092,035 (GRCm39)	Y261N	possibly damaging	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Per1	G	A	11: 68,992,185 (GRCm39)		probably benign	Het
Polb	T	C	8: 23,132,354 (GRCm39)	D130G	probably null	Het
Ppcs	T	C	4: 119,279,375 (GRCm39)	N59S	probably damaging	Het
Ppp2ca	A	G	11: 52,003,969 (GRCm39)	E42G	possibly damaging	Het
Ptprf	T	C	4: 118,083,663 (GRCm39)	T807A	probably damaging	Het
Rapgef2	A	C	3: 79,006,502 (GRCm39)	F284V	possibly damaging	Het
Sestd1	A	T	2: 77,022,060 (GRCm39)	F544I	probably damaging	Het
Slfn3	G	A	11: 83,103,662 (GRCm39)	G178S	possibly damaging	Het
Supt6	G	A	11: 78,098,598 (GRCm39)		probably benign	Het
Tas2r109	T	A	6: 132,957,264 (GRCm39)	Q222L	probably benign	Het
Tekt4	A	C	17: 25,691,021 (GRCm39)	D109A	probably damaging	Het
Tob2	C	A	15: 81,735,903 (GRCm39)	R22L	probably damaging	Het
Ttn	T	G	2: 76,653,282 (GRCm39)	E178D	possibly damaging	Het
Ube2u	C	A	4: 100,371,937 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,332,812 (GRCm39)		probably benign	Het
Zfp57	A	G	17: 37,317,092 (GRCm39)		probably benign	Het
Znrf3	G	T	11: 5,231,320 (GRCm39)	P731Q	probably benign	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
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
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'- TGATTTAGGCACTACACCAAGAGCAAG -3'
(R):5'- AAAGTCTCCCTCAGATCCTGCGAC -3'

Sequencing Primer
(F):5'- TTCTCCAGGAAAGAGACATTGGC -3'
(R):5'- CTGTCACTAGGACAAATTCAACCTTG -3'

Posted On

2013-10-16