Mutagenetix > Incidental Mutation

Incidental Mutation 'R7714:Vash1'

594808

Institutional Source

Beutler Lab

Gene Symbol

Vash1

Ensembl Gene

ENSMUSG00000021256

Gene Name

vasohibin 1

Synonyms

G630009D10Rik, D930046M13Rik

MMRRC Submission

045772-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.320) question?

Stock #

R7714 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86725474-86738865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86738614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 354 (S354P)

Ref Sequence

ENSEMBL: ENSMUSP00000021681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021681]

AlphaFold

Q8C1W1

Predicted Effect

probably benign
Transcript: ENSMUST00000021681
AA Change: S354P

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000021681
Gene: ENSMUSG00000021256
AA Change: S354P

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
low complexity region	19	33	N/A	INTRINSIC
low complexity region	52	67	N/A	INTRINSIC
Pfam:Vasohibin	68	312	3.2e-122	PFAM

Meta Mutation Damage Score

0.0963

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (63/65)

MGI Phenotype

PHENOTYPE: Homozygous null mice have defects in terminating angiogenesis that occurs near wounds. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,167,587 (GRCm39)		probably null	Het
Agrn	C	A	4: 156,279,854 (GRCm39)	D106Y	probably damaging	Het
Arfgap3	A	T	15: 83,192,352 (GRCm39)	Y416N	probably benign	Het
Atp6v0a2	C	T	5: 124,775,533 (GRCm39)	T135M	probably damaging	Het
Bach1	C	A	16: 87,515,736 (GRCm39)	Y92*	probably null	Het
Catsperg1	A	C	7: 28,884,907 (GRCm39)	C905G	probably null	Het
Cbr2	T	C	11: 120,620,628 (GRCm39)	I219V	probably benign	Het
Ccdc3	A	T	2: 5,233,908 (GRCm39)	K244I	probably damaging	Het
Cd226	T	C	18: 89,265,433 (GRCm39)	V237A	probably damaging	Het
Chek2	T	C	5: 110,989,319 (GRCm39)	C81R	probably benign	Het
Col27a1	T	C	4: 63,242,723 (GRCm39)		probably null	Het
Cracdl	T	A	1: 37,663,858 (GRCm39)	Q680L	probably benign	Het
Crybg3	A	T	16: 59,379,236 (GRCm39)	S673T	probably benign	Het
Csmd2	T	A	4: 128,276,743 (GRCm39)	Y848*	probably null	Het
Dgkb	C	A	12: 38,680,592 (GRCm39)	T764K	probably damaging	Het
Dock4	T	A	12: 40,775,648 (GRCm39)	C530*	probably null	Het
Dpyd	A	G	3: 118,597,780 (GRCm39)	K254R	probably benign	Het
Dstyk	C	T	1: 132,384,614 (GRCm39)	P703S	possibly damaging	Het
Ehhadh	A	T	16: 21,585,140 (GRCm39)	I247N	probably damaging	Het
Fer1l5	T	G	1: 36,440,558 (GRCm39)	L597R	probably damaging	Het
Fignl1	T	C	11: 11,752,842 (GRCm39)	E71G	probably damaging	Het
Fnip2	A	C	3: 79,425,421 (GRCm39)	V58G	probably damaging	Het
Gapdhs	A	T	7: 30,431,349 (GRCm39)	I377N	probably damaging	Het
Gcn1	C	T	5: 115,733,359 (GRCm39)	A1059V	probably damaging	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Grik2	A	C	10: 49,295,792 (GRCm39)	I392S	probably damaging	Het
Hoxb3	T	C	11: 96,236,606 (GRCm39)	L228P	probably damaging	Het
Iws1	A	T	18: 32,223,568 (GRCm39)	M659L	probably benign	Het
Kmt2c	A	G	5: 25,580,364 (GRCm39)	C570R	probably benign	Het
Lamc3	T	A	2: 31,812,279 (GRCm39)		probably null	Het
Lipf	G	A	19: 33,943,048 (GRCm39)	G119R	probably damaging	Het
Lrrc37	T	C	11: 103,507,719 (GRCm39)	I1416M	unknown	Het
Magel2	A	T	7: 62,028,130 (GRCm39)	I345L	probably benign	Het
Mdn1	G	A	4: 32,722,360 (GRCm39)	A2381T	possibly damaging	Het
Med12l	T	C	3: 59,001,007 (GRCm39)	V690A	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Mob3b	A	G	4: 35,083,872 (GRCm39)	Y106H	probably damaging	Het
Myo1c	T	C	11: 75,549,519 (GRCm39)	Y166H	probably damaging	Het
Ndst4	A	T	3: 125,364,493 (GRCm39)	H390L	probably benign	Het
Nt5c1b	T	A	12: 10,425,472 (GRCm39)	N280K	probably damaging	Het
Or10aa1	G	A	1: 173,869,900 (GRCm39)	R128H	probably benign	Het
Or5b116	A	T	19: 13,423,252 (GRCm39)	N292I	probably damaging	Het
Otof	A	G	5: 30,527,597 (GRCm39)	F1947L	probably damaging	Het
Pabpc4	G	A	4: 123,189,102 (GRCm39)	A481T	probably benign	Het
Parm1	C	T	5: 91,741,791 (GRCm39)	T53I	possibly damaging	Het
Pilra	C	T	5: 137,833,679 (GRCm39)	R129Q	probably benign	Het
Pkd1	C	T	17: 24,769,250 (GRCm39)	A5V	unknown	Het
Pmch	T	C	10: 87,927,242 (GRCm39)	S82P	probably benign	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Rad51c	T	C	11: 87,292,276 (GRCm39)	S180G	probably benign	Het
Rassf8	A	C	6: 145,760,973 (GRCm39)	T100P	probably damaging	Het
Rnpepl1	A	G	1: 92,844,890 (GRCm39)	E394G	probably damaging	Het
Rufy2	T	A	10: 62,838,772 (GRCm39)	V418E	probably benign	Het
Sdad1	A	T	5: 92,450,538 (GRCm39)	V199D	probably damaging	Het
Sptbn4	A	T	7: 27,063,761 (GRCm39)	S2227T	probably benign	Het
Tac4	A	G	11: 95,156,116 (GRCm39)	M66V	probably benign	Het
Tas2r126	T	C	6: 42,412,031 (GRCm39)	V188A	probably benign	Het
Tcerg1	T	C	18: 42,694,000 (GRCm39)	V707A	possibly damaging	Het
Tmem273	A	G	14: 32,527,129 (GRCm39)	E32G	possibly damaging	Het
Trav13d-4	G	A	14: 53,995,355 (GRCm39)	G103D	probably damaging	Het
Trav8d-1	A	G	14: 53,016,380 (GRCm39)	S89G	probably benign	Het
Ttll4	C	T	1: 74,718,572 (GRCm39)	S141L	probably benign	Het
Vmn2r40	T	A	7: 8,911,116 (GRCm39)	I726F		Het
Vmn2r53	A	C	7: 12,340,418 (GRCm39)	N18K	probably damaging	Het
Wnt6	T	C	1: 74,823,422 (GRCm39)	F253S	probably damaging	Het
Zfp599	A	G	9: 22,161,811 (GRCm39)	I118T	probably benign	Het

Other mutations in Vash1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00478:Vash1	APN	12	86,727,042 (GRCm39)	missense	possibly damaging	0.94
R2289:Vash1	UTSW	12	86,726,952 (GRCm39)	missense	probably damaging	0.98
R3015:Vash1	UTSW	12	86,732,194 (GRCm39)	missense	probably benign	0.01
R4896:Vash1	UTSW	12	86,726,916 (GRCm39)	missense	probably benign	0.04
R5471:Vash1	UTSW	12	86,735,902 (GRCm39)	missense	possibly damaging	0.78
R5540:Vash1	UTSW	12	86,726,831 (GRCm39)	small deletion	probably benign
R6684:Vash1	UTSW	12	86,735,683 (GRCm39)	missense	probably damaging	0.99
R7767:Vash1	UTSW	12	86,733,767 (GRCm39)	missense	probably damaging	0.98
R7976:Vash1	UTSW	12	86,726,758 (GRCm39)	start gained	probably benign
R8411:Vash1	UTSW	12	86,726,952 (GRCm39)	missense	possibly damaging	0.93
R8692:Vash1	UTSW	12	86,735,863 (GRCm39)	missense	possibly damaging	0.80
R9495:Vash1	UTSW	12	86,738,663 (GRCm39)	missense	probably damaging	1.00
R9549:Vash1	UTSW	12	86,735,870 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CACTGGTTCCACAAACACTG -3'
(R):5'- CAAAGTTAGGGGCTTGGCTTC -3'

Sequencing Primer
(F):5'- ACACTGCCCACACTCTCTG -3'
(R):5'- CAAGTCACTTGGGGCTGAATG -3'

Posted On

2019-11-12