Mutagenetix > Incidental Mutation

Incidental Mutation 'R2116:Veph1'

233118

Institutional Source

Beutler Lab

Gene Symbol

Veph1

Ensembl Gene

ENSMUSG00000027831

Gene Name

ventricular zone expressed PH domain-containing 1

Synonyms

2810471M23Rik, Veph

MMRRC Submission

040120-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2116 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65960979-66204258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 65964610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 806 (N806K)

Ref Sequence

ENSEMBL: ENSMUSP00000029419 (fasta)

Gene Model

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

AlphaFold

A1A535

Predicted Effect

probably benign
Transcript: ENSMUST00000029419
AA Change: N806K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029419
Gene: ENSMUSG00000027831
AA Change: N806K

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: 97.5%
20x: 95.9%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	G	15: 94,253,243 (GRCm39)	C377R	probably damaging	Het
Adgrv1	T	C	13: 81,677,132 (GRCm39)	K1180E	probably benign	Het
Ankle1	A	G	8: 71,860,562 (GRCm39)	T340A	probably benign	Het
Armc2	A	T	10: 41,839,663 (GRCm39)	L434Q	probably damaging	Het
Ash1l	C	T	3: 88,890,571 (GRCm39)	L817F	probably benign	Het
Atm	C	T	9: 53,412,269 (GRCm39)	E960K	probably benign	Het
Bend5	G	T	4: 111,272,436 (GRCm39)	R22L	probably benign	Het
Cacng6	C	T	7: 3,479,020 (GRCm39)	T133I	probably damaging	Het
Cep120	G	A	18: 53,873,208 (GRCm39)	T41I	probably damaging	Het
Ciz1	T	C	2: 32,257,477 (GRCm39)	L174P	probably damaging	Het
Cmah	G	A	13: 24,612,880 (GRCm39)	D26N	probably benign	Het
Cnot1	A	C	8: 96,452,781 (GRCm39)	D2098E	probably damaging	Het
Cnot10	A	C	9: 114,455,504 (GRCm39)	S207R	probably damaging	Het
Col14a1	A	G	15: 55,271,160 (GRCm39)	T638A	unknown	Het
Coro1a	T	C	7: 126,301,194 (GRCm39)	E102G	probably damaging	Het
Ddx27	A	C	2: 166,869,684 (GRCm39)	D373A	probably benign	Het
Defb38	A	T	8: 19,073,483 (GRCm39)	Y63*	probably null	Het
Dhx37	A	G	5: 125,498,166 (GRCm39)	V681A	probably damaging	Het
Dmxl1	T	A	18: 50,011,884 (GRCm39)	L1347H	probably damaging	Het
Dnmt3l	C	A	10: 77,899,130 (GRCm39)	L110I	probably damaging	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gfus	A	G	15: 75,797,991 (GRCm39)	F223S	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm12790	G	A	4: 101,824,848 (GRCm39)	T140I	possibly damaging	Het
Golga3	A	T	5: 110,335,261 (GRCm39)	M192L	probably damaging	Het
H2-T22	A	T	17: 36,349,949 (GRCm39)		probably null	Het
Hectd2	C	A	19: 36,591,824 (GRCm39)	T675K	probably damaging	Het
Hinfp	T	C	9: 44,210,912 (GRCm39)	N116S	probably damaging	Het
Hoatz	A	G	9: 51,012,384 (GRCm39)	S79P	possibly damaging	Het
Hs6st3	T	A	14: 120,106,699 (GRCm39)	L369Q	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ipo7	T	A	7: 109,650,325 (GRCm39)	Y792N	probably damaging	Het
Jak1	A	T	4: 101,036,872 (GRCm39)	I256N	probably damaging	Het
Kcnd2	T	A	6: 21,216,431 (GRCm39)	L45Q	probably damaging	Het
Klhl3	A	T	13: 58,166,805 (GRCm39)	V342E	probably damaging	Het
Krt28	A	C	11: 99,255,943 (GRCm39)	S439A	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lrch1	G	A	14: 75,022,971 (GRCm39)	P634L	probably damaging	Het
Lrp1	C	T	10: 127,412,362 (GRCm39)	W1314*	probably null	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Lyst	A	G	13: 13,810,286 (GRCm39)	E652G	probably damaging	Het
Mageb3	A	G	2: 121,785,033 (GRCm39)	V223A	probably damaging	Het
Map1b	G	T	13: 99,567,152 (GRCm39)	S1856R	unknown	Het
Mecom	T	A	3: 30,019,607 (GRCm39)	Q759L	probably damaging	Het
Mfsd6	T	A	1: 52,700,134 (GRCm39)	R671S	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mta2	T	C	19: 8,920,880 (GRCm39)	I27T	probably damaging	Het
Ndufab1	A	G	7: 121,700,987 (GRCm39)	L20P	probably benign	Het
Nfatc2ip	T	A	7: 125,984,280 (GRCm39)	Y371F	probably damaging	Het
Nhlrc1	A	C	13: 47,167,661 (GRCm39)	S199A	probably benign	Het
Nipa1	G	T	7: 55,635,273 (GRCm39)	N113K	possibly damaging	Het
Nlgn1	T	A	3: 26,187,414 (GRCm39)	N157I	probably damaging	Het
Nlrp1a	T	A	11: 71,005,326 (GRCm39)	K630*	probably null	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Nr1i3	T	A	1: 171,046,163 (GRCm39)	L181Q	probably damaging	Het
Nrxn1	A	T	17: 91,011,705 (GRCm39)	I308K	probably damaging	Het
Nup50l	A	T	6: 96,141,841 (GRCm39)	V401E	probably damaging	Het
Or14a256	T	C	7: 86,265,286 (GRCm39)	D189G	probably benign	Het
Or52z15	T	C	7: 103,332,519 (GRCm39)	I188T	probably damaging	Het
Or5al7	A	T	2: 85,993,073 (GRCm39)	Y73*	probably null	Het
Or8g50	T	A	9: 39,648,600 (GRCm39)	M163K	probably damaging	Het
Osgin2	G	A	4: 16,008,648 (GRCm39)	T51M	probably damaging	Het
Pkd1l2	T	A	8: 117,757,461 (GRCm39)	T1526S	possibly damaging	Het
Pkhd1l1	G	T	15: 44,432,878 (GRCm39)	A3378S	probably damaging	Het
Plg	A	T	17: 12,603,364 (GRCm39)	D90V	probably damaging	Het
Plppr3	A	T	10: 79,701,572 (GRCm39)	D423E	probably benign	Het
Prpf8	T	C	11: 75,378,547 (GRCm39)	V66A	possibly damaging	Het
Psg19	A	T	7: 18,528,180 (GRCm39)	Y188N	probably damaging	Het
Ptgs1	C	A	2: 36,127,708 (GRCm39)	S89*	probably null	Het
Ptx3	T	A	3: 66,132,187 (GRCm39)	I236N	probably damaging	Het
Pygm	A	G	19: 6,436,438 (GRCm39)	N100S	probably damaging	Het
Reps1	A	G	10: 18,000,668 (GRCm39)	E760G	probably damaging	Het
Rgs7	T	A	1: 174,918,639 (GRCm39)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,693,295 (GRCm39)	M629L	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Sctr	A	T	1: 119,959,312 (GRCm39)	D70V	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Spty2d1	C	T	7: 46,645,933 (GRCm39)	G570D	probably damaging	Het
Stx1b	T	C	7: 127,410,077 (GRCm39)	E153G	probably damaging	Het
Synm	G	A	7: 67,383,343 (GRCm39)	R1440W	probably benign	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tgfb1i1	G	A	7: 127,851,977 (GRCm39)	R353H	probably damaging	Het
Thbs3	T	C	3: 89,126,699 (GRCm39)	F271S	probably damaging	Het
Tlr5	T	C	1: 182,803,194 (GRCm39)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Tmem221	T	C	8: 72,010,472 (GRCm39)	Y133C	probably damaging	Het
Tmem229b-ps	A	G	10: 53,351,552 (GRCm39)		noncoding transcript	Het
Tnxb	T	C	17: 34,891,201 (GRCm39)	C515R	probably damaging	Het
Trp53rka	T	A	2: 165,333,415 (GRCm39)	N158I	probably damaging	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Usp31	C	T	7: 121,247,919 (GRCm39)	V1175M	probably benign	Het
Vmn1r223	G	T	13: 23,433,832 (GRCm39)	C142F	probably damaging	Het
Vmn2r80	A	T	10: 79,030,558 (GRCm39)	S795C	probably benign	Het
Wdr41	A	G	13: 95,151,537 (GRCm39)		probably null	Het
Zfp617	A	T	8: 72,686,009 (GRCm39)	H113L	probably benign	Het
Zfp715	T	A	7: 42,947,370 (GRCm39)	R863S	possibly 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
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'- TGAAACCCAATAGCGCCATGG -3'
(R):5'- TGGGAAATTCCAAGAGCCAGTG -3'

Sequencing Primer
(F):5'- CAATAGCGCCATGGTGGGTTC -3'
(R):5'- AGGAGCGAACTCATGATCTTTCC -3'

Posted On

2014-09-18