Mutagenetix > Incidental Mutation

Incidental Mutation 'R2265:Vash2'

244040

Institutional Source

Beutler Lab

Gene Symbol

Vash2

Ensembl Gene

ENSMUSG00000037568

Gene Name

vasohibin 2

Synonyms

B130052G07Rik

MMRRC Submission

040265-MU

Accession Numbers

Essential gene?

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

Stock #

R2265 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

190947646-190979296 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 190950213 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 347 (N347D)

Ref Sequence

ENSEMBL: ENSMUSP00000127626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027947] [ENSMUST00000047409] [ENSMUST00000066632] [ENSMUST00000110899] [ENSMUST00000123384] [ENSMUST00000166139]

AlphaFold

Q8C5G2

Predicted Effect

probably benign
Transcript: ENSMUST00000027947

SMART Domains

Protein: ENSMUSP00000027947
Gene: ENSMUSG00000026634

Domain	Start	End	E-Value	Type
Pfam:Exo_endo_phos	148	511	2.4e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000047409
AA Change: N347D

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036768
Gene: ENSMUSG00000037568
AA Change: N347D

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: ENSMUST00000066632

SMART Domains

Protein: ENSMUSP00000064556
Gene: ENSMUSG00000026634

Domain	Start	End	E-Value	Type
Pfam:Exo_endo_phos	170	533	9.9e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110899

SMART Domains

Protein: ENSMUSP00000106524
Gene: ENSMUSG00000026634

Domain	Start	End	E-Value	Type
Pfam:Exo_endo_phos	148	511	2.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123384

SMART Domains

Protein: ENSMUSP00000117912
Gene: ENSMUSG00000026634

Domain	Start	End	E-Value	Type
Pfam:Exo_endo_phos	1	207	4.4e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144693

Predicted Effect

probably damaging
Transcript: ENSMUST00000166139
AA Change: N347D

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127626
Gene: ENSMUSG00000037568
AA Change: N347D

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578C19Rik	A	G	X: 18,423,687	S179P	possibly damaging	Het
A830018L16Rik	T	C	1: 11,972,104		probably null	Het
Aadac	T	A	3: 60,037,316	D136E	probably damaging	Het
Abca16	A	G	7: 120,431,160	D165G	probably benign	Het
Adam24	T	A	8: 40,680,071	S193T	possibly damaging	Het
Adra2b	T	C	2: 127,363,871	S103P	probably damaging	Het
Agrn	C	T	4: 156,179,218	G173R	probably damaging	Het
Alg11	T	A	8: 22,065,614	V255E	probably benign	Het
Aox1	C	A	1: 58,081,520	D857E	probably damaging	Het
Apob	T	C	12: 8,015,475	F4115S	possibly damaging	Het
Bdkrb2	A	G	12: 105,592,225	T242A	probably benign	Het
Cdca7	T	C	2: 72,482,490	L190P	probably benign	Het
Cenpe	A	G	3: 135,261,636	T2180A	probably benign	Het
Cep41	T	A	6: 30,660,916	I126F	possibly damaging	Het
Col16a1	C	A	4: 130,052,918	H111Q	probably benign	Het
Cops3	T	C	11: 59,827,890	T193A	probably benign	Het
Dbr1	G	A	9: 99,579,410	V153M	probably damaging	Het
Ddx4	A	G	13: 112,621,276	Y290H	probably benign	Het
Dgkb	T	A	12: 38,190,108	S461R	possibly damaging	Het
Dnajc28	T	C	16: 91,616,312	N372S	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549		probably benign	Het
Dock3	C	A	9: 106,941,326	V1190F	probably damaging	Het
Exosc1	A	G	19: 41,931,418	S54P	probably damaging	Het
Fbxw22	C	T	9: 109,383,994	R295K	probably benign	Het
Foxo1	T	C	3: 52,345,912	S499P	probably benign	Het
Heatr5a	T	C	12: 51,893,745	D1444G	possibly damaging	Het
Hspa2	T	G	12: 76,406,188	I552S	probably benign	Het
Imp4	T	A	1: 34,443,847	I173N	probably damaging	Het
Itgal	A	G	7: 127,306,701	I352V	possibly damaging	Het
Kcnh6	G	A	11: 106,033,817	R816Q	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Kcnip3	G	T	2: 127,465,061	A173D	probably benign	Het
Kir3dl1	A	G	X: 136,525,035	R53G	probably benign	Het
Klhl31	A	G	9: 77,650,158	D52G	possibly damaging	Het
Klk1b21	T	C	7: 44,104,439	I49T	possibly damaging	Het
Lama2	T	A	10: 26,992,936	I2838F	probably damaging	Het
Lilrb4a	T	A	10: 51,491,537	Y58*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Mpdz	A	G	4: 81,383,391	S266P	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mroh7	T	C	4: 106,720,927	N185D	probably benign	Het
Mybphl	A	G	3: 108,365,001	E2G	probably damaging	Het
Mycbp2	T	C	14: 103,262,749	D937G	probably benign	Het
Myo18b	A	G	5: 112,782,673	M1799T	probably damaging	Het
Nr4a2	T	A	2: 57,112,006	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,820,460	N58K	probably benign	Het
Olfr1066	T	C	2: 86,456,214	Y19C	possibly damaging	Het
Olfr1278	A	G	2: 111,293,179	T304A	probably benign	Het
Olfr1330	A	T	4: 118,893,874	R264W	probably damaging	Het
Olfr164	A	G	16: 19,286,555	Y63H	probably damaging	Het
Olfr583	G	A	7: 103,052,137	V280I	probably benign	Het
Olfr659	T	C	7: 104,670,860	F53L	probably benign	Het
Ovch2	A	T	7: 107,784,575	M521K	probably damaging	Het
P2ry13	T	C	3: 59,210,028	M110V	probably damaging	Het
P2ry14	T	C	3: 59,115,571	N165S	probably damaging	Het
Pcdhb19	A	T	18: 37,497,683	H177L	probably damaging	Het
Phf8	T	C	X: 151,572,601	L520S	possibly damaging	Het
Pjvk	T	G	2: 76,657,453	S230A	possibly damaging	Het
Plch2	T	C	4: 154,993,004	E423G	probably benign	Het
Rad9b	T	C	5: 122,351,342	Y41C	probably damaging	Het
Ranbp3l	A	T	15: 9,057,113	I286F	probably damaging	Het
Rtel1	T	A	2: 181,354,368	V739D	probably damaging	Het
Slc35a3	T	C	3: 116,673,636	K325E	possibly damaging	Het
Spag17	C	A	3: 100,061,866		probably null	Het
Spg11	A	T	2: 122,108,307	C389S	possibly damaging	Het
Srsf4	T	C	4: 131,897,682	V130A	probably damaging	Het
Taar8b	T	C	10: 24,091,372	N308S	probably damaging	Het
Tas2r117	T	A	6: 132,803,225	C109S	probably benign	Het
Tlr5	T	A	1: 182,975,035	S635T	possibly damaging	Het
Ttc21a	G	T	9: 119,959,008	C833F	possibly damaging	Het
Vcp	G	A	4: 42,980,833	A759V	possibly damaging	Het
Vmn2r18	T	C	5: 151,586,662	E82G	probably damaging	Het
Vps13c	T	C	9: 67,920,947	V1461A	possibly damaging	Het
Zfp616	T	C	11: 74,085,463	Y853H	possibly damaging	Het

Other mutations in Vash2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02345:Vash2	APN	1	190978215	missense	probably benign	0.15
Logical	UTSW	1	190960225	missense	probably benign	0.11
R0507:Vash2	UTSW	1	190966918	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- AGTGAGGGAGTCAGTCAACC -3'
(R):5'- TTAGCTAACCACACTGCAGG -3'

Sequencing Primer
(F):5'- AGTCAGTCAACCCAGGGCTTTG -3'
(R):5'- TAACCACACTGCAGGCCCTTG -3'

Posted On

2014-10-16