Mutagenetix > Incidental Mutation

Incidental Mutation 'R2081:Veph1'

229460

Institutional Source

Beutler Lab

Gene Symbol

Veph1

Ensembl Gene

ENSMUSG00000027831

Gene Name

ventricular zone expressed PH domain-containing 1

Synonyms

2810471M23Rik, Veph

MMRRC Submission

040086-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2081 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65960979-66204258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65968523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 740 (Y740C)

Ref Sequence

ENSEMBL: ENSMUSP00000029419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029419]

AlphaFold

A1A535

Predicted Effect

probably damaging
Transcript: ENSMUST00000029419
AA Change: Y740C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029419
Gene: ENSMUSG00000027831
AA Change: Y740C

Domain	Start	End	E-Value	Type
low complexity region	59	76	N/A	INTRINSIC
Blast:PH	586	626	1e-5	BLAST
PH	717	821	1.44e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107837

SMART Domains

Protein: ENSMUSP00000103468
Gene: ENSMUSG00000027831

Domain	Start	End	E-Value	Type
Blast:PH	6	46	6e-6	BLAST
PH	137	241	6.5e-17	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a disruption in this gene appear normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,211,085 (GRCm39)	T28A	possibly damaging	Het
Actl11	G	A	9: 107,807,396 (GRCm39)	G573D	probably benign	Het
Adam39	T	A	8: 41,279,879 (GRCm39)	*757K	probably null	Het
Agpat4	T	C	17: 12,370,771 (GRCm39)	I38T	possibly damaging	Het
Ap3d1	A	C	10: 80,568,770 (GRCm39)	I36S	probably damaging	Het
Arhgap45	T	C	10: 79,863,508 (GRCm39)	F784L	probably damaging	Het
Atg5lrt	T	C	10: 95,972,601 (GRCm39)	I46T	possibly damaging	Het
Atp10b	T	A	11: 43,092,955 (GRCm39)	I430N	probably damaging	Het
Atrip	T	A	9: 108,901,807 (GRCm39)		probably null	Het
C2cd4b	G	T	9: 67,667,859 (GRCm39)	R285L	probably damaging	Het
Camta1	T	C	4: 151,228,699 (GRCm39)	E711G	probably benign	Het
Clcn6	T	C	4: 148,095,525 (GRCm39)	Y685C	probably damaging	Het
Col18a1	T	A	10: 76,890,019 (GRCm39)	D1447V	probably damaging	Het
Crispld1	T	A	1: 17,832,403 (GRCm39)	V463D	probably damaging	Het
Crybg2	T	G	4: 133,816,131 (GRCm39)	F1612V	possibly damaging	Het
Dclk1	T	C	3: 55,429,346 (GRCm39)		probably null	Het
Ddx46	G	T	13: 55,821,829 (GRCm39)	V834L	probably benign	Het
Dnah10	A	G	5: 124,852,045 (GRCm39)	D1734G	possibly damaging	Het
Dpep1	T	C	8: 123,926,117 (GRCm39)	V152A	probably damaging	Het
Ect2l	T	C	10: 18,041,275 (GRCm39)	E301G	probably damaging	Het
Elf3	C	T	1: 135,184,814 (GRCm39)	C124Y	probably benign	Het
Eno2	A	G	6: 124,740,088 (GRCm39)	V316A	probably damaging	Het
Erap1	A	G	13: 74,823,426 (GRCm39)	E820G	possibly damaging	Het
Evpl	A	T	11: 116,125,092 (GRCm39)	H123Q	probably damaging	Het
Fat2	T	A	11: 55,200,503 (GRCm39)	Y857F	possibly damaging	Het
Fbrsl1	T	A	5: 110,519,491 (GRCm39)		probably null	Het
Fbxw7	A	G	3: 84,881,820 (GRCm39)	D432G	probably damaging	Het
Flt1	A	T	5: 147,576,232 (GRCm39)	L592Q	probably damaging	Het
Gm14496	T	A	2: 181,642,272 (GRCm39)	C648S	probably damaging	Het
Gm5150	A	T	3: 16,045,109 (GRCm39)	S39T	probably benign	Het
Gse1	C	A	8: 121,293,219 (GRCm39)	P177Q	probably damaging	Het
Heatr4	G	A	12: 84,027,096 (GRCm39)	R54W	probably damaging	Het
Hpgd	C	A	8: 56,760,677 (GRCm39)	Q125K	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Mast2	A	T	4: 116,187,671 (GRCm39)		probably null	Het
Mfsd11	A	G	11: 116,752,381 (GRCm39)	T177A	possibly damaging	Het
Mlx	T	C	11: 100,978,257 (GRCm39)	S36P	probably benign	Het
Mlxipl	T	A	5: 135,142,492 (GRCm39)	V102D	probably damaging	Het
Mms22l	T	C	4: 24,536,150 (GRCm39)	Y540H	probably damaging	Het
Msc	T	C	1: 14,825,941 (GRCm39)	D11G	probably benign	Het
Muc4	C	G	16: 32,574,020 (GRCm39)	S699R	probably benign	Het
Nckap1l	T	C	15: 103,405,881 (GRCm39)	S1106P	probably damaging	Het
Obscn	T	C	11: 58,925,008 (GRCm39)	E5703G	possibly damaging	Het
Or2ag1	A	G	7: 106,313,405 (GRCm39)	M161T	probably benign	Het
Pabpn1	A	G	14: 55,133,115 (GRCm39)	K38E	probably damaging	Het
Padi3	A	T	4: 140,526,290 (GRCm39)	L141Q	probably damaging	Het
Pakap	G	A	4: 57,855,927 (GRCm39)	E419K	possibly damaging	Het
Pde3b	A	G	7: 114,122,657 (GRCm39)	N742D	probably benign	Het
Pex1	T	A	5: 3,674,132 (GRCm39)		probably null	Het
Pkd2	T	C	5: 104,608,077 (GRCm39)	V192A	probably benign	Het
Ppp6r2	T	A	15: 89,166,332 (GRCm39)	M750K	probably benign	Het
Prdm15	A	T	16: 97,604,980 (GRCm39)	Y783*	probably null	Het
Prox2	T	A	12: 85,141,782 (GRCm39)	Q140H	probably damaging	Het
Psg27	A	T	7: 18,290,883 (GRCm39)	I440K	probably damaging	Het
Pzp	A	G	6: 128,496,383 (GRCm39)	M283T	probably benign	Het
Sec23a	G	A	12: 59,045,067 (GRCm39)	Q192*	probably null	Het
Sh2b1	A	G	7: 126,071,862 (GRCm39)	S108P	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tkfc	G	A	19: 10,574,742 (GRCm39)	A166V	probably damaging	Het
Tomm70a	T	C	16: 56,961,121 (GRCm39)	V358A	probably damaging	Het
Trim47	A	G	11: 115,997,239 (GRCm39)	F505S	probably damaging	Het
Tti2	T	C	8: 31,641,337 (GRCm39)	F154L	possibly damaging	Het
Ubap2l	C	T	3: 89,946,271 (GRCm39)	G111D	possibly damaging	Het
Usp9y	A	T	Y: 1,381,277 (GRCm39)	I848N	possibly damaging	Het
Vmn2r114	T	A	17: 23,510,083 (GRCm39)	H799L	possibly damaging	Het
Wdr31	T	A	4: 62,374,180 (GRCm39)	M270L	probably benign	Het
Zfp26	A	G	9: 20,347,913 (GRCm39)	S884P	probably benign	Het
Zswim6	T	A	13: 107,909,930 (GRCm39)		noncoding transcript	Het

Other mutations in Veph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00755:Veph1	APN	3	66,162,431 (GRCm39)	missense	probably damaging	1.00
IGL01539:Veph1	APN	3	66,065,496 (GRCm39)	missense	probably benign	0.00
IGL01746:Veph1	APN	3	66,065,508 (GRCm39)	missense	probably benign
IGL02055:Veph1	APN	3	66,113,048 (GRCm39)	missense	possibly damaging	0.94
IGL02504:Veph1	APN	3	66,079,551 (GRCm39)	missense	probably damaging	1.00
IGL02610:Veph1	APN	3	66,079,588 (GRCm39)	missense	probably damaging	1.00
IGL02647:Veph1	APN	3	66,066,869 (GRCm39)	splice site	probably benign
IGL03279:Veph1	APN	3	66,162,443 (GRCm39)	missense	probably damaging	1.00
R0317:Veph1	UTSW	3	66,079,396 (GRCm39)	missense	probably benign
R0318:Veph1	UTSW	3	65,964,680 (GRCm39)	missense	probably damaging	1.00
R0418:Veph1	UTSW	3	66,162,449 (GRCm39)	nonsense	probably null
R1913:Veph1	UTSW	3	66,151,976 (GRCm39)	missense	probably damaging	1.00
R2116:Veph1	UTSW	3	65,964,610 (GRCm39)	missense	probably benign	0.06
R3622:Veph1	UTSW	3	66,122,858 (GRCm39)	missense	probably benign	0.01
R3623:Veph1	UTSW	3	66,122,858 (GRCm39)	missense	probably benign	0.01
R3624:Veph1	UTSW	3	66,122,858 (GRCm39)	missense	probably benign	0.01
R3829:Veph1	UTSW	3	66,066,748 (GRCm39)	missense	possibly damaging	0.92
R3862:Veph1	UTSW	3	66,162,313 (GRCm39)	missense	probably damaging	1.00
R3974:Veph1	UTSW	3	66,065,648 (GRCm39)	missense	probably benign
R4209:Veph1	UTSW	3	66,151,967 (GRCm39)	missense	probably damaging	1.00
R4361:Veph1	UTSW	3	66,066,737 (GRCm39)	missense	probably benign	0.00
R4416:Veph1	UTSW	3	65,968,606 (GRCm39)	missense	probably damaging	0.99
R5478:Veph1	UTSW	3	66,162,443 (GRCm39)	missense	probably damaging	1.00
R6218:Veph1	UTSW	3	66,162,481 (GRCm39)	missense	probably damaging	1.00
R6399:Veph1	UTSW	3	66,033,312 (GRCm39)	missense	probably benign	0.03
R6655:Veph1	UTSW	3	66,113,034 (GRCm39)	missense	possibly damaging	0.50
R6867:Veph1	UTSW	3	66,162,458 (GRCm39)	missense	probably damaging	1.00
R6877:Veph1	UTSW	3	66,162,505 (GRCm39)	missense	probably damaging	1.00
R7257:Veph1	UTSW	3	66,065,703 (GRCm39)	missense	probably benign	0.00
R7723:Veph1	UTSW	3	66,113,093 (GRCm39)	missense	possibly damaging	0.95
R7969:Veph1	UTSW	3	66,122,896 (GRCm39)	missense	possibly damaging	0.81
R8174:Veph1	UTSW	3	66,171,316 (GRCm39)	missense	probably damaging	1.00
R8526:Veph1	UTSW	3	66,066,737 (GRCm39)	missense	probably benign	0.00
R8816:Veph1	UTSW	3	66,065,646 (GRCm39)	missense	probably benign
R8946:Veph1	UTSW	3	66,171,301 (GRCm39)	critical splice donor site	probably null
R9342:Veph1	UTSW	3	66,151,959 (GRCm39)	missense	probably damaging	0.97
R9411:Veph1	UTSW	3	65,995,238 (GRCm39)	missense	possibly damaging	0.95
R9461:Veph1	UTSW	3	66,029,066 (GRCm39)	missense	probably benign
R9658:Veph1	UTSW	3	66,171,434 (GRCm39)	nonsense	probably null
X0025:Veph1	UTSW	3	66,151,917 (GRCm39)	missense	probably benign
Z1176:Veph1	UTSW	3	66,151,909 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAGTCTGATGCAGAGTTGTG -3'
(R):5'- TGTTTCAGACGTGCTCTCCG -3'

Sequencing Primer
(F):5'- GATAGGCTTAAGTATGAGGCATTC -3'
(R):5'- CTCCGGGATCTGGTTCATTTTACAG -3'

Posted On

2014-09-17