Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02345:Vash2'

289230

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vash2

Ensembl Gene

ENSMUSG00000037568

Gene Name

vasohibin 2

Synonyms

B130052G07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL02345

Quality Score

Status

Chromosome

Chromosomal Location

190947646-190979296 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 190978215 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 81 (V81A)

Ref Sequence

ENSEMBL: ENSMUSP00000127626 (fasta)

Gene Model

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

AlphaFold

Q8C5G2

Predicted Effect

probably benign
Transcript: ENSMUST00000047409
AA Change: V81A

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036768
Gene: ENSMUSG00000037568
AA Change: V81A

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: V81A

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127626
Gene: ENSMUSG00000037568
AA Change: V81A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192306

Coding Region Coverage

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	T	16: 14,396,351	D177Y	possibly damaging	Het
Casc3	T	C	11: 98,827,564		probably benign	Het
Cnga1	C	T	5: 72,605,272	V300I	probably benign	Het
Dcun1d4	A	G	5: 73,511,152	D41G	probably damaging	Het
Dnm1l	T	C	16: 16,329,894	S181G	possibly damaging	Het
Dyrk1a	T	G	16: 94,671,362	S242A	possibly damaging	Het
Fcgbp	T	A	7: 28,071,643		probably benign	Het
Fibcd1	T	C	2: 31,816,592	Y409C	probably damaging	Het
Fig4	A	T	10: 41,267,774	W230R	probably null	Het
Flt1	T	C	5: 147,582,626	S960G	probably benign	Het
Fyb	A	G	15: 6,619,662	S390G	possibly damaging	Het
Gbx2	T	C	1: 89,928,976	T231A	probably benign	Het
Gm16432	G	A	1: 178,015,188	V60I	possibly damaging	Het
Gm5852	T	A	3: 93,727,748		noncoding transcript	Het
Lmo7	T	C	14: 101,887,473	V456A	probably damaging	Het
Mark3	A	G	12: 111,627,107	N191S	probably damaging	Het
Olfr871	C	A	9: 20,213,018	S223Y	possibly damaging	Het
Pik3c2a	C	T	7: 116,405,891	E381K	probably damaging	Het
Pik3r5	A	G	11: 68,492,726	D457G	probably benign	Het
Plcg2	T	C	8: 117,585,180	S404P	probably damaging	Het
Prr16	T	C	18: 51,303,229	F260S	probably damaging	Het
Psd4	T	C	2: 24,401,823		probably null	Het
Ptgs1	A	G	2: 36,242,971	D327G	probably null	Het
Rgsl1	C	T	1: 153,804,009		probably null	Het
Spg20	T	A	3: 55,117,726		probably null	Het
Sugp1	A	G	8: 70,043,084		probably benign	Het
Tubgcp3	A	T	8: 12,625,056	I713N	probably damaging	Het
Usp19	A	G	9: 108,493,858	T240A	probably benign	Het
Vmn2r41	T	G	7: 8,138,768	N566H	probably damaging	Het
Wdr31	A	G	4: 62,458,846	I42T	possibly damaging	Het
Zfp292	C	T	4: 34,809,244	V1272I	possibly damaging	Het
Zfp638	C	T	6: 83,984,875	R1899C	probably damaging	Het

Other mutations in Vash2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Logical	UTSW	1	190960225	missense	probably benign	0.11
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
R6282:Vash2	UTSW	1	190960225	missense	probably benign	0.11
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

Posted On

2015-04-16