Mutagenetix > Incidental Mutations

Incidental Mutation 'R6282:Vash2'

507983

Institutional Source

Beutler Lab

Gene Symbol

Vash2

Ensembl Gene

ENSMUSG00000037568

Gene Name

vasohibin 2

Synonyms

B130052G07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R6282 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

190947646-190979296 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 190960225 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 251 (Y251C)

Ref Sequence

ENSEMBL: ENSMUSP00000127626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047409] [ENSMUST00000166139]

Predicted Effect

probably benign
Transcript: ENSMUST00000047409
AA Change: Y251C

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036768
Gene: ENSMUSG00000037568
AA Change: Y251C

Domain	Start	End	E-Value	Type
Pfam:Vasohibin	45	291	7e-124	PFAM
low complexity region	312	329	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166139
AA Change: Y251C

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127626
Gene: ENSMUSG00000037568
AA Change: Y251C

Domain	Start	End	E-Value	Type
low complexity region	35	46	N/A	INTRINSIC
Pfam:Vasohibin	47	291	1.1e-124	PFAM
low complexity region	312	329	N/A	INTRINSIC

Meta Mutation Damage Score

0.0788

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (45/46)

MGI Phenotype

PHENOTYPE: Homozygous null mice have defects in initiating angiogenesis in response to skin wounding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,800,769	L185Q	possibly damaging	Het
Abca6	A	T	11: 110,208,824	C966S	probably damaging	Het
Atp13a4	A	T	16: 29,434,004	I708N	probably benign	Het
Axin1	C	G	17: 26,143,037	D118E	probably damaging	Het
Bace2	A	T	16: 97,415,097	I297F	probably damaging	Het
C87499	T	C	4: 88,630,054	E38G	probably damaging	Het
Ccdc30	T	A	4: 119,324,017	D649V	probably damaging	Het
Cd180	G	A	13: 102,693,757	A20T	possibly damaging	Het
Cdk18	T	C	1: 132,120,020	D112G	probably damaging	Het
Cuedc1	A	G	11: 88,183,402	N254S	probably damaging	Het
Dnah7a	T	C	1: 53,503,601	H2470R	probably damaging	Het
Drap1	G	A	19: 5,424,436		probably null	Het
Fam196b	A	G	11: 34,402,819	D287G	possibly damaging	Het
Fbxo5	T	A	10: 5,801,216	K257M	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm12790	A	G	4: 101,967,516	V185A	possibly damaging	Het
Gm7361	A	G	5: 26,260,413	N136S	probably benign	Het
Il10ra	C	A	9: 45,260,405	C255F	probably damaging	Het
Itgam	A	T	7: 128,084,942	T340S	probably benign	Het
Ktn1	A	T	14: 47,663,971	N62I	probably damaging	Het
Ldb2	A	G	5: 44,532,665	L204P	probably damaging	Het
Map2k4	T	C	11: 65,707,016	T90A	possibly damaging	Het
Mettl3	A	T	14: 52,297,971	D287E	probably benign	Het
Mier2	A	G	10: 79,544,742	F278S	probably damaging	Het
Mis18bp1	A	G	12: 65,149,163	M609T	probably benign	Het
Myo1d	A	T	11: 80,557,512	V929D	probably damaging	Het
Naprt	A	T	15: 75,891,979	M364K	probably benign	Het
Nod2	T	A	8: 88,670,460	C833S	probably benign	Het
Nrip3	C	T	7: 109,763,479		probably null	Het
Ntsr2	A	G	12: 16,658,425	Y320C	probably damaging	Het
Olfr1178	C	A	2: 88,391,533	C95*	probably null	Het
Olfr555	G	A	7: 102,659,647	M275I	probably benign	Het
Olfr761	G	A	17: 37,952,424	S200F	possibly damaging	Het
Osbpl3	A	T	6: 50,348,083		probably null	Het
Pcdhb3	C	T	18: 37,301,646	R222C	probably damaging	Het
Pik3cd	G	T	4: 149,659,743	R184S	probably benign	Het
Rad50	A	T	11: 53,669,770		probably null	Het
Rad51ap2	A	T	12: 11,457,559	H494L	probably benign	Het
Rbm25	T	C	12: 83,676,089	M762T	probably damaging	Het
Sars	G	T	3: 108,428,274	S338*	probably null	Het
Usp35	T	C	7: 97,325,948	E6G	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20	T	A	12: 110,797,009		probably benign	Het
Wfdc1	G	A	8: 119,679,407	C87Y	probably damaging	Het
Zfp985	T	A	4: 147,583,348	H224Q	probably benign	Het

Other mutations in Vash2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02345:Vash2	APN	1	190978215	missense	probably benign	0.15
R0507:Vash2	UTSW	1	190966918	splice site	probably benign
R2265:Vash2	UTSW	1	190950213	missense	probably damaging	0.97
R3615:Vash2	UTSW	1	190970419	missense	probably damaging	1.00
R3616:Vash2	UTSW	1	190970419	missense	probably damaging	1.00
R4610:Vash2	UTSW	1	190960301	missense	probably benign	0.04
R4844:Vash2	UTSW	1	190978494	utr 5 prime	probably benign
R5569:Vash2	UTSW	1	190960291	missense	possibly damaging	0.65
R6312:Vash2	UTSW	1	190958683	missense	probably benign	0.29
R6468:Vash2	UTSW	1	190978287	missense	probably damaging	1.00
R7362:Vash2	UTSW	1	190960299	missense	probably damaging	1.00
X0021:Vash2	UTSW	1	190960444	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGAAGGAAGCTCCCACAC -3'
(R):5'- TTGAGCGGTTCCCTATCAGC -3'

Sequencing Primer
(F):5'- AGCTCCCACACAGCAGGG -3'
(R):5'- CAGGAAACTACTTTCACCATGTCGTG -3'

Posted On

2018-03-15