Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02701:Vezf1'

304136

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vezf1

Ensembl Gene

ENSMUSG00000018377

Gene Name

vascular endothelial zinc finger 1

Synonyms

db1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02701

Quality Score

Status

Chromosome

Chromosomal Location

88068279-88084729 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 88076221 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 93 (R93*)

Ref Sequence

ENSEMBL: ENSMUSP00000114394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018521] [ENSMUST00000143052]

Predicted Effect

probably null
Transcript: ENSMUST00000018521
AA Change: R275*

SMART Domains

Protein: ENSMUSP00000018521
Gene: ENSMUSG00000018377
AA Change: R275*

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
ZnF_C2H2	74	96	3.83e-2	SMART
low complexity region	137	172	N/A	INTRINSIC
ZnF_C2H2	174	196	6.78e-3	SMART
ZnF_C2H2	202	224	2.99e-4	SMART
ZnF_C2H2	232	255	1.1e-2	SMART
ZnF_C2H2	261	283	3.16e-3	SMART
ZnF_C2H2	287	308	2.61e1	SMART
low complexity region	335	351	N/A	INTRINSIC
low complexity region	368	379	N/A	INTRINSIC
low complexity region	384	397	N/A	INTRINSIC
low complexity region	454	472	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000143052
AA Change: R93*

SMART Domains

Protein: ENSMUSP00000114394
Gene: ENSMUSG00000018377
AA Change: R93*

Domain	Start	End	E-Value	Type
ZnF_C2H2	14	36	2.99e-4	SMART
ZnF_C2H2	44	67	1.1e-2	SMART
ZnF_C2H2	73	101	2.47e1	SMART
ZnF_C2H2	105	126	2.61e1	SMART
low complexity region	153	169	N/A	INTRINSIC
low complexity region	186	197	N/A	INTRINSIC
low complexity region	202	215	N/A	INTRINSIC
low complexity region	272	290	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein (Koyano-Nakagawa et al., 1994 [PubMed 8035792]). See MIM 603971 for general information on zinc finger proteins.[supplied by OMIM, Sep 2008]
PHENOTYPE: Homozygous null mice die at midgestation due to angiogenic remodeling defects and loss of vascular integrity leading to hemorrhaging in the head, heart and trunk. One fifth of heterozygous null embryos show lymphatic hypervascularization associated with hemorrhaging and edema in the jugular region. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	G	5: 5,466,623		probably null	Het
4833423E24Rik	A	G	2: 85,484,169	L480P	probably damaging	Het
Arhgap21	A	G	2: 20,892,091	C125R	probably damaging	Het
Blmh	A	G	11: 76,971,910	D383G	probably benign	Het
Brca1	T	C	11: 101,525,235	E691G	probably damaging	Het
Chrm3	G	A	13: 9,878,464	R179*	probably null	Het
Cnrip1	A	G	11: 17,078,415	T116A	probably benign	Het
Csmd2	T	C	4: 128,496,141	V2223A	probably benign	Het
Dalrd3	T	A	9: 108,572,284	V143D	possibly damaging	Het
Ddx60	A	T	8: 61,979,341	I886L	probably damaging	Het
Dennd4a	T	C	9: 64,897,353	F1325L	possibly damaging	Het
Dnmt3l	A	T	10: 78,055,022	T253S	probably benign	Het
Gde1	T	A	7: 118,698,637	T9S	probably damaging	Het
Ggcx	T	A	6: 72,418,472		probably benign	Het
Gm813	G	A	16: 58,615,807	S51L	probably benign	Het
Hspg2	C	T	4: 137,557,174	A3481V	probably damaging	Het
Igf1r	T	C	7: 68,201,249	Y931H	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,801	S25A	probably damaging	Het
Itga5	A	C	15: 103,347,766	C920G	probably damaging	Het
Kmt5b	A	G	19: 3,796,681	D118G	probably benign	Het
Lrp1b	T	G	2: 41,246,017	N1647T	possibly damaging	Het
Lrrc71	T	C	3: 87,741,772	E363G	probably benign	Het
Mapk1	A	G	16: 17,015,906	Y41C	probably benign	Het
Mib1	T	C	18: 10,747,357	V178A	probably damaging	Het
Olfr1022	A	G	2: 85,869,458	I289V	probably benign	Het
Olfr159	A	G	4: 43,770,366	I215T	probably benign	Het
Olfr472	A	T	7: 107,903,442	T242S	probably benign	Het
Plb1	T	C	5: 32,364,197	V1464A	unknown	Het
Plekhg5	T	C	4: 152,103,022	S82P	probably damaging	Het
Plxna4	T	C	6: 32,517,559	T41A	probably benign	Het
Ppip5k1	A	C	2: 121,316,649		probably null	Het
Rpl14	T	C	9: 120,573,573		probably benign	Het
Slc44a2	T	C	9: 21,347,951	F554L	probably benign	Het
Slco1b2	T	A	6: 141,685,545	V635E	probably benign	Het
Sv2a	T	A	3: 96,187,131	C261S	probably damaging	Het
Thbs2	T	C	17: 14,683,361	I353V	probably benign	Het
Tspan4	G	A	7: 141,492,028	V205M	probably damaging	Het
Wwox	T	A	8: 114,706,368	V258D	probably damaging	Het
Zmynd12	G	T	4: 119,444,755		probably benign	Het

Other mutations in Vezf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00531:Vezf1	APN	11	88073494	missense	probably benign	0.14
IGL00576:Vezf1	APN	11	88073644	nonsense	probably null
IGL02683:Vezf1	APN	11	88076327	missense	probably benign	0.36
IGL02700:Vezf1	APN	11	88073303	missense	probably damaging	0.97
R0541:Vezf1	UTSW	11	88081577	missense	possibly damaging	0.77
R0591:Vezf1	UTSW	11	88068435	critical splice donor site	probably benign
R0592:Vezf1	UTSW	11	88068435	critical splice donor site	probably benign
R0725:Vezf1	UTSW	11	88073330	missense	probably benign	0.04
R0758:Vezf1	UTSW	11	88068435	critical splice donor site	probably benign
R0803:Vezf1	UTSW	11	88068435	critical splice donor site	probably benign
R0853:Vezf1	UTSW	11	88068435	critical splice donor site	probably benign
R0854:Vezf1	UTSW	11	88068435	critical splice donor site	probably benign
R1491:Vezf1	UTSW	11	88073747	missense	probably damaging	1.00
R1605:Vezf1	UTSW	11	88076299	missense	possibly damaging	0.75
R1781:Vezf1	UTSW	11	88081621	missense	probably benign	0.28
R3898:Vezf1	UTSW	11	88076173	missense	probably benign
R4656:Vezf1	UTSW	11	88074667	missense	probably damaging	1.00
R4868:Vezf1	UTSW	11	88074694	missense	probably damaging	1.00
R5946:Vezf1	UTSW	11	88073734	nonsense	probably null
R6190:Vezf1	UTSW	11	88076186	missense	probably benign	0.02
R6258:Vezf1	UTSW	11	88081500	missense	probably damaging	1.00
R6260:Vezf1	UTSW	11	88081500	missense	probably damaging	1.00
R6452:Vezf1	UTSW	11	88081670	missense	possibly damaging	0.66
R6680:Vezf1	UTSW	11	88081584	missense	probably benign	0.23
R6983:Vezf1	UTSW	11	88073319	missense	possibly damaging	0.88
R7086:Vezf1	UTSW	11	88078538	missense	probably benign	0.00
R7322:Vezf1	UTSW	11	88081584	missense	possibly damaging	0.68
R7443:Vezf1	UTSW	11	88074663	missense	probably damaging	1.00
X0019:Vezf1	UTSW	11	88068435	critical splice donor site	probably benign
X0067:Vezf1	UTSW	11	88081728	missense	probably benign	0.24

Posted On

2015-04-16