Mutagenetix > Incidental Mutation

Incidental Mutation 'R4416:Veph1'

326826

Institutional Source

Beutler Lab

Gene Symbol

Veph1

Ensembl Gene

ENSMUSG00000027831

Gene Name

ventricular zone expressed PH domain-containing 1

Synonyms

Veph, 2810471M23Rik

MMRRC Submission

041137-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66053558-66296837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66061185 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 712 (N712K)

Ref Sequence

ENSEMBL: ENSMUSP00000029419 (fasta)

Gene Model

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

AlphaFold

A1A535

Predicted Effect

probably damaging
Transcript: ENSMUST00000029419
AA Change: N712K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029419
Gene: ENSMUSG00000027831
AA Change: N712K

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: 98.5%
10x: 97.1%
20x: 95.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
4933412E24Rik	T	A	15: 60,016,423	E56V	possibly damaging	Het
Adam28	A	G	14: 68,622,082		probably null	Het
Bnc1	G	T	7: 81,968,960	H786N	probably benign	Het
Cav1	T	A	6: 17,339,249	M100K	probably benign	Het
Cdk9	A	G	2: 32,708,072	L273P	probably damaging	Het
Celsr1	A	G	15: 85,927,999	V2065A	probably damaging	Het
Cyp2c54	T	C	19: 40,038,259	Q484R	probably benign	Het
Elfn1	T	C	5: 139,972,194	S318P	possibly damaging	Het
Fam160b1	G	T	19: 57,385,397		probably null	Het
Fbxl6	T	C	15: 76,537,724	E205G	possibly damaging	Het
Frmd6	T	A	12: 70,877,249	Y94N	probably benign	Het
Gdpd1	A	T	11: 87,035,288	V277D	probably benign	Het
Gm1141	G	A	X: 71,939,619	C399Y	possibly damaging	Het
Grik1	C	A	16: 88,051,461	V140L	probably benign	Het
Grpel1	A	G	5: 36,471,272	H175R	probably damaging	Het
Gtdc1	G	T	2: 44,575,590		probably null	Het
Hivep2	A	T	10: 14,129,170	Q504L	probably benign	Het
Icos	A	T	1: 60,994,690	I160L	probably benign	Het
Igsf9b	G	T	9: 27,322,917	C442F	probably damaging	Het
Itga10	T	C	3: 96,658,246	V1062A	possibly damaging	Het
Lrp1b	C	T	2: 40,663,667	V386I	unknown	Het
Lrp2	G	T	2: 69,527,231	F409L	probably benign	Het
Nadk	T	G	4: 155,587,726	Y291*	probably null	Het
Nudt6	A	T	3: 37,405,229		probably null	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr694	G	A	7: 106,689,011	T240I	probably benign	Het
Olfr814	T	C	10: 129,873,957	T267A	probably benign	Het
Olfr974	A	G	9: 39,942,428	H56R	probably damaging	Het
Pds5b	C	T	5: 150,736,396	P275S	probably damaging	Het
Pdzd7	T	A	19: 45,040,580	E117V	probably damaging	Het
Pik3ca	T	C	3: 32,461,530	V784A	probably damaging	Het
Polr3e	T	C	7: 120,939,057		probably null	Het
Rab3gap2	A	T	1: 185,282,347	D1231V	probably benign	Het
Rapgef2	C	A	3: 79,069,057	G1481*	probably null	Het
Rho	G	A	6: 115,935,230	V76I	probably benign	Het
Rrm1	A	G	7: 102,447,801	D96G	probably benign	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Srp9	A	T	1: 182,131,411	M50L	probably benign	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Sult1d1	A	G	5: 87,558,576	F169S	probably damaging	Het
Tmem63c	C	G	12: 87,081,902	T567R	probably benign	Het
Tmf1	G	T	6: 97,178,988	F12L	probably damaging	Het
Ush2a	T	C	1: 188,356,874	I342T	probably damaging	Het
Vti1a	T	G	19: 55,380,948	S91A	probably benign	Het

Other mutations in Veph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00755:Veph1	APN	3	66255010	missense	probably damaging	1.00
IGL01539:Veph1	APN	3	66158075	missense	probably benign	0.00
IGL01746:Veph1	APN	3	66158087	missense	probably benign
IGL02055:Veph1	APN	3	66205627	missense	possibly damaging	0.94
IGL02504:Veph1	APN	3	66172130	missense	probably damaging	1.00
IGL02610:Veph1	APN	3	66172167	missense	probably damaging	1.00
IGL02647:Veph1	APN	3	66159448	splice site	probably benign
IGL03279:Veph1	APN	3	66255022	missense	probably damaging	1.00
R0317:Veph1	UTSW	3	66171975	missense	probably benign
R0318:Veph1	UTSW	3	66057259	missense	probably damaging	1.00
R0418:Veph1	UTSW	3	66255028	nonsense	probably null
R1913:Veph1	UTSW	3	66244555	missense	probably damaging	1.00
R2081:Veph1	UTSW	3	66061102	missense	probably damaging	1.00
R2116:Veph1	UTSW	3	66057189	missense	probably benign	0.06
R3622:Veph1	UTSW	3	66215437	missense	probably benign	0.01
R3623:Veph1	UTSW	3	66215437	missense	probably benign	0.01
R3624:Veph1	UTSW	3	66215437	missense	probably benign	0.01
R3829:Veph1	UTSW	3	66159327	missense	possibly damaging	0.92
R3862:Veph1	UTSW	3	66254892	missense	probably damaging	1.00
R3974:Veph1	UTSW	3	66158227	missense	probably benign
R4209:Veph1	UTSW	3	66244546	missense	probably damaging	1.00
R4361:Veph1	UTSW	3	66159316	missense	probably benign	0.00
R5478:Veph1	UTSW	3	66255022	missense	probably damaging	1.00
R6218:Veph1	UTSW	3	66255060	missense	probably damaging	1.00
R6399:Veph1	UTSW	3	66125891	missense	probably benign	0.03
R6655:Veph1	UTSW	3	66205613	missense	possibly damaging	0.50
R6867:Veph1	UTSW	3	66255037	missense	probably damaging	1.00
R6877:Veph1	UTSW	3	66255084	missense	probably damaging	1.00
R7257:Veph1	UTSW	3	66158282	missense	probably benign	0.00
R7723:Veph1	UTSW	3	66205672	missense	possibly damaging	0.95
R7969:Veph1	UTSW	3	66215475	missense	possibly damaging	0.81
R8174:Veph1	UTSW	3	66263895	missense	probably damaging	1.00
R8526:Veph1	UTSW	3	66159316	missense	probably benign	0.00
R8816:Veph1	UTSW	3	66158225	missense	probably benign
R8946:Veph1	UTSW	3	66263880	critical splice donor site	probably null
R9342:Veph1	UTSW	3	66244538	missense	probably damaging	0.97
R9411:Veph1	UTSW	3	66087817	missense	possibly damaging	0.95
R9461:Veph1	UTSW	3	66121645	missense	probably benign
R9658:Veph1	UTSW	3	66264013	nonsense	probably null
X0025:Veph1	UTSW	3	66244496	missense	probably benign
Z1176:Veph1	UTSW	3	66244488	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAACTCTGTGCTTTAGGATTGTG -3'
(R):5'- GTGTGATCAGGTTGGCAAACTG -3'

Sequencing Primer
(F):5'- ATTGTGGTAGGTTTTGAAGGAAAG -3'
(R):5'- CTTATAGATGCTGTCAGATGCCAG -3'

Posted On

2015-07-07