Mutagenetix > Incidental Mutation

Incidental Mutation 'R2289:Vash1'

244226

Institutional Source

Beutler Lab

Gene Symbol

Vash1

Ensembl Gene

ENSMUSG00000021256

Gene Name

vasohibin 1

Synonyms

G630009D10Rik, D930046M13Rik

MMRRC Submission

040288-MU

Accession Numbers

Essential gene?

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

Stock #

R2289 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86725474-86738865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 86726952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 64 (R64P)

Ref Sequence

ENSEMBL: ENSMUSP00000021681 (fasta)

Gene Model

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

AlphaFold

Q8C1W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000021681
AA Change: R64P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021681
Gene: ENSMUSG00000021256
AA Change: R64P

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp12a	G	A	14: 56,610,719 (GRCm39)	V288I	possibly damaging	Het
Cntn6	C	T	6: 104,545,989 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cplx3	T	A	9: 57,520,941 (GRCm39)	E220V	possibly damaging	Het
Cracdl	T	C	1: 37,651,342 (GRCm39)	K1175R	possibly damaging	Het
Dcaf10	T	A	4: 45,359,816 (GRCm39)	W244R	probably damaging	Het
Dixdc1	A	G	9: 50,595,172 (GRCm39)		probably null	Het
Dlg4	T	A	11: 69,917,752 (GRCm39)	Y12N	probably damaging	Het
Fsd1l	T	A	4: 53,696,931 (GRCm39)	Y442N	possibly damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hcrt	C	A	11: 100,652,745 (GRCm39)	A90S	probably damaging	Het
Itga6	T	A	2: 71,648,873 (GRCm39)	V119D	probably damaging	Het
Klrh1	T	C	6: 129,745,140 (GRCm39)	N152S	probably null	Het
Lmtk2	T	A	5: 144,112,924 (GRCm39)	S1215T	possibly damaging	Het
Loxl2	G	A	14: 69,930,524 (GRCm39)	E763K	probably benign	Het
Mcrip1	T	C	11: 120,435,530 (GRCm39)	E35G	probably damaging	Het
Nle1	T	A	11: 82,793,879 (GRCm39)	I386F	probably benign	Het
Nqo1	T	C	8: 108,119,630 (GRCm39)	I8V	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Pax8	T	C	2: 24,330,752 (GRCm39)	D227G	probably benign	Het
Phf14	T	C	6: 12,047,845 (GRCm39)	C885R	probably damaging	Het
Rhobtb3	A	C	13: 76,059,046 (GRCm39)	C251G	probably damaging	Het
Samd13	C	T	3: 146,368,446 (GRCm39)	A49T	probably damaging	Het
Snrpa1	T	A	7: 65,713,586 (GRCm39)	V101E	probably benign	Het
Styx	A	G	14: 45,592,404 (GRCm39)	E20G	possibly damaging	Het
Thoc1	T	C	18: 9,984,488 (GRCm39)	Y325H	probably damaging	Het
Tmem163	T	A	1: 127,423,477 (GRCm39)	T262S	possibly damaging	Het
Tsr1	T	G	11: 74,790,111 (GRCm39)	L102R	probably damaging	Het
Vps13b	A	C	15: 35,572,251 (GRCm39)	D956A	probably damaging	Het
Vrk1	G	A	12: 106,024,120 (GRCm39)	G199S	probably damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp870	A	T	17: 33,102,334 (GRCm39)	S333T	probably benign	Het
Zranb1	T	C	7: 132,551,768 (GRCm39)	Y140H	probably damaging	Het
Zscan4b	A	G	7: 10,635,789 (GRCm39)		probably null	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
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
R7714:Vash1	UTSW	12	86,738,614 (GRCm39)	missense	probably benign	0.02
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'- CCCCGTTGAGGATTTAGGGATG -3'
(R):5'- AGGTCAATAAAACCCATCTTCACTG -3'

Sequencing Primer
(F):5'- TGAGGATTTAGGGATGCCAGG -3'
(R):5'- ATAAAACCCATCTTCACTGTGCCTG -3'

Posted On

2014-10-30