Mutagenetix > Incidental Mutation

Incidental Mutation 'R3624:Veph1'

269304

Institutional Source

Beutler Lab

Gene Symbol

Veph1

Ensembl Gene

ENSMUSG00000027831

Gene Name

ventricular zone expressed PH domain-containing 1

Synonyms

2810471M23Rik, Veph

MMRRC Submission

040678-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3624 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65960979-66204258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66122858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 224 (V224I)

Ref Sequence

ENSEMBL: ENSMUSP00000029419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029419] [ENSMUST00000029421]

AlphaFold

A1A535

Predicted Effect

probably benign
Transcript: ENSMUST00000029419
AA Change: V224I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000029419
Gene: ENSMUSG00000027831
AA Change: V224I

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

probably benign
Transcript: ENSMUST00000029421

SMART Domains

Protein: ENSMUSP00000029421
Gene: ENSMUSG00000027832

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	123	144	N/A	INTRINSIC
PTX	175	381	5.82e-89	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182521

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adcy2	T	C	13: 68,790,650 (GRCm39)	T905A	probably damaging	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Anks1	T	C	17: 28,205,262 (GRCm39)	F274L	probably damaging	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Coch	A	G	12: 51,649,609 (GRCm39)	I307V	probably benign	Het
Colec11	T	C	12: 28,644,907 (GRCm39)	M196V	probably benign	Het
Cyp2c54	A	G	19: 40,058,688 (GRCm39)	I248T	probably benign	Het
D17H6S53E	A	G	17: 35,346,512 (GRCm39)	E141G	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Elp1	C	T	4: 56,798,708 (GRCm39)	V85M	possibly damaging	Het
Emilin3	T	C	2: 160,750,177 (GRCm39)	D477G	possibly damaging	Het
Esp4	A	G	17: 40,913,484 (GRCm39)	K117R	unknown	Het
Fam186b	A	G	15: 99,178,396 (GRCm39)	L310S	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
H2-T3	T	C	17: 36,500,957 (GRCm39)	T20A	possibly damaging	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Irs2	C	T	8: 11,057,643 (GRCm39)	G263D	probably damaging	Het
Itih3	A	G	14: 30,636,700 (GRCm39)	Y38H	probably damaging	Het
Kif21a	A	G	15: 90,849,798 (GRCm39)	V35A	probably damaging	Het
Klhl14	A	T	18: 21,690,953 (GRCm39)	V499D	probably damaging	Het
Kmt2d	T	C	15: 98,740,783 (GRCm39)		probably benign	Het
Loxl4	A	G	19: 42,596,015 (GRCm39)	V146A	probably benign	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Mga	A	G	2: 119,772,245 (GRCm39)	T1702A	probably damaging	Het
Midn	A	G	10: 79,986,144 (GRCm39)	D78G	probably benign	Het
Mlh3	C	T	12: 85,315,169 (GRCm39)	C339Y	probably damaging	Het
Mog	T	C	17: 37,323,338 (GRCm39)	H200R	possibly damaging	Het
Nadk2	T	A	15: 9,084,303 (GRCm39)	W139R	probably damaging	Het
Nsd3	A	G	8: 26,152,835 (GRCm39)	T392A	probably damaging	Het
Pbld2	T	C	10: 62,897,470 (GRCm39)	L57P	probably damaging	Het
Racgap1	T	A	15: 99,540,772 (GRCm39)	N26I	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rspry1	A	G	8: 95,376,405 (GRCm39)	D309G	probably damaging	Het
Sgcz	T	C	8: 38,420,201 (GRCm39)	E17G	probably damaging	Het
Slc16a10	A	G	10: 40,017,890 (GRCm39)	V48A	probably benign	Het
Smad1	A	G	8: 80,066,327 (GRCm39)	V450A	probably benign	Het
Smad9	C	T	3: 54,696,705 (GRCm39)	R257W	probably damaging	Het
Snrpb	C	A	2: 130,017,299 (GRCm39)	R73L	probably null	Het
Spag11a	A	G	8: 19,209,417 (GRCm39)	D69G	probably benign	Het
Sptbn1	T	C	11: 30,090,593 (GRCm39)	H559R	probably damaging	Het
Strn3	T	C	12: 51,707,999 (GRCm39)	Y132C	possibly damaging	Het
Tasor2	T	C	13: 3,645,556 (GRCm39)	T98A	probably benign	Het
Tgm6	T	A	2: 129,993,681 (GRCm39)	V640E	possibly damaging	Het
Trim54	G	A	5: 31,294,320 (GRCm39)	V319M	possibly damaging	Het
Trpm1	A	G	7: 63,894,601 (GRCm39)	Y951C	probably damaging	Het
Ube3a	T	A	7: 58,921,860 (GRCm39)	N77K	probably damaging	Het
Uhrf1	C	T	17: 56,624,023 (GRCm39)	T482I	probably damaging	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn1r88	A	C	7: 12,911,790 (GRCm39)	M49L	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Zfp60	T	A	7: 27,448,753 (GRCm39)	F474I	probably benign	Het
Zkscan8	C	T	13: 21,704,946 (GRCm39)	R259Q	probably damaging	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
R2081:Veph1	UTSW	3	65,968,523 (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
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'- TCCCTTGGACCAAGTCTCATA -3'
(R):5'- AAAGTCACTGCTGTTGCCTT -3'

Sequencing Primer
(F):5'- ATGCACACATCCATACCTCTTATG -3'
(R):5'- AAGTCACTGCTGTTGCCTTTATTTTG -3'

Posted On

2015-02-19