Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Veph1'

503830

Institutional Source

Beutler Lab

Gene Symbol

Veph1

Ensembl Gene

ENSMUSG00000027831

Gene Name

ventricular zone expressed PH domain-containing 1

Synonyms

Veph, 2810471M23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66053558-66296837 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66255060 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 59 (E59G)

Ref Sequence

ENSEMBL: ENSMUSP00000029419 (fasta)

Gene Model

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

AlphaFold

A1A535

Predicted Effect

probably damaging
Transcript: ENSMUST00000029419
AA Change: E59G

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

SMART Domains

Protein: ENSMUSP00000029419
Gene: ENSMUSG00000027831
AA Change: E59G

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: ENSMUST00000182815

Meta Mutation Damage Score

0.7629

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,837,904	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 49,019,307	N766K	probably benign	Het
Adam15	A	C	3: 89,343,883	I505S	probably benign	Het
Apc2	T	C	10: 80,306,420	M391T	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bclaf1	A	G	10: 20,334,628	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,239,060	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,747,928		probably null	Het
Ddhd1	A	G	14: 45,614,176	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,523,672	S469T	probably benign	Het
Dzip3	A	T	16: 48,958,465	M323K	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,409	A10T	possibly damaging	Het
Eci2	T	A	13: 34,993,065		probably null	Het
Fam109b	T	A	15: 82,343,716	H145Q	probably benign	Het
Fam227b	A	T	2: 126,126,962	V64E	probably damaging	Het
Galnt2	A	G	8: 124,343,315	I524V	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm14548	A	T	7: 3,894,032	S602T	possibly damaging	Het
Gm3443	T	A	19: 21,555,746	S25T	probably damaging	Het
Gpr22	T	A	12: 31,711,617	K14*	probably null	Het
Grip1	T	C	10: 119,986,346	S405P	possibly damaging	Het
Helz2	C	A	2: 181,232,294	V2136L	probably benign	Het
Helz2	T	C	2: 181,235,945	H1020R	probably damaging	Het
Il1f5	G	A	2: 24,277,490		probably benign	Het
Iqsec1	T	A	6: 90,689,635	S607C	probably damaging	Het
Klhl2	A	T	8: 64,752,767	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,292,747	I595V	unknown	Het
Large2	T	C	2: 92,370,636	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,082,159	Y122H	probably damaging	Het
Map1b	A	T	13: 99,433,206	D1002E	unknown	Het
Mink1	C	T	11: 70,598,894	T59I	possibly damaging	Het
Mrvi1	G	A	7: 110,876,905	T819M	probably benign	Het
Myo7b	T	C	18: 31,959,454	N2097D	probably benign	Het
Nbea	C	A	3: 55,628,484	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,436,093	V490E	probably damaging	Het
Olfr1230	G	T	2: 89,296,962	H103N	probably damaging	Het
Olfr131	A	G	17: 38,082,729	M83T	probably damaging	Het
Olfr1318	T	C	2: 112,156,356	I135T	probably damaging	Het
Olfr1369-ps1	G	A	13: 21,116,231	E180K	probably damaging	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pdcl3	T	C	1: 38,988,071		probably null	Het
Pkp1	T	C	1: 135,879,908	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,591,564	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,431	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,208,811	Y712H	probably damaging	Het
Prune2	T	C	19: 17,121,562	S1477P	probably benign	Het
Psma5	A	G	3: 108,279,802	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,270,456	A284P	probably benign	Het
Samsn1	G	A	16: 75,945,274		noncoding transcript	Het
Scel	A	G	14: 103,572,042	T273A	probably benign	Het
Slc22a5	T	A	11: 53,891,618		probably benign	Het
Slc25a37	A	T	14: 69,249,504	M110K	possibly damaging	Het
Slc6a2	A	T	8: 92,981,981	M242L	probably benign	Het
Slc8a3	C	A	12: 81,199,567	W904L	probably benign	Het
Ss18l1	G	A	2: 180,055,112	V109I	probably benign	Het
Tbx5	C	T	5: 119,853,598	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,052,913	L244F	probably damaging	Het
Tmem107	T	A	11: 69,071,415	V66E	probably damaging	Het
Tnr	T	C	1: 159,888,314	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,470,807	V340A	possibly damaging	Het
Vmn1r234	T	A	17: 21,229,721	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,464	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,998,073	E620G	probably benign	Het
Zfp418	A	G	7: 7,182,628	H530R	possibly damaging	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
R4416:Veph1	UTSW	3	66061185	missense	probably damaging	0.99
R5478:Veph1	UTSW	3	66255022	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'- CACTGACATACCTGTAAGATGCAAC -3'
(R):5'- ACGTCACTGGACCTTGTGTG -3'

Sequencing Primer
(F):5'- TGCAACTCATGATATCAGAGGC -3'
(R):5'- CACTGGACCTTGTGTGTATTTTC -3'

Posted On

2018-02-27