Mutagenetix > Incidental Mutation

Incidental Mutation 'R7322:Vezf1'

568229

Institutional Source

Beutler Lab

Gene Symbol

Vezf1

Ensembl Gene

ENSMUSG00000018377

Gene Name

vascular endothelial zinc finger 1

Synonyms

db1

MMRRC Submission

045417-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87959105-87975555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87972410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 439 (I439K)

Ref Sequence

ENSEMBL: ENSMUSP00000018521 (fasta)

Gene Model

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

AlphaFold

Q5SXC4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018521
AA Change: I439K

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000018521
Gene: ENSMUSG00000018377
AA Change: I439K

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 benign
Transcript: ENSMUST00000143052
AA Change: I257K

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114394
Gene: ENSMUSG00000018377
AA Change: I257K

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,067,151 (GRCm39)	V1352D	probably damaging	Het
Adam33	C	T	2: 130,895,614 (GRCm39)	C567Y	probably damaging	Het
Alppl2	C	A	1: 87,015,184 (GRCm39)	G422C	probably benign	Het
Ang	T	A	14: 51,338,868 (GRCm39)	I3K	unknown	Het
Ankrd10	A	T	8: 11,665,841 (GRCm39)	V253E	probably damaging	Het
Arhgef17	T	C	7: 100,527,004 (GRCm39)	I806V	probably benign	Het
Atp10b	T	C	11: 43,103,374 (GRCm39)	L586P	probably damaging	Het
Bdkrb1	T	C	12: 105,570,563 (GRCm39)	V43A	possibly damaging	Het
Brinp3	C	T	1: 146,558,426 (GRCm39)	R117*	probably null	Het
Brwd1	A	T	16: 95,867,319 (GRCm39)	M172K	probably damaging	Het
Bsn	G	A	9: 108,003,620 (GRCm39)	R262*	probably null	Het
Bst2	A	C	8: 71,989,851 (GRCm39)	L74R	probably damaging	Het
C1qa	T	C	4: 136,623,465 (GRCm39)	*246W	probably null	Het
Cadm2	G	A	16: 66,679,734 (GRCm39)	T42M	probably damaging	Het
Ccdc150	A	G	1: 54,299,125 (GRCm39)	T34A	probably benign	Het
Ccdc178	G	A	18: 22,238,606 (GRCm39)	T337M	probably benign	Het
Ccl8	T	C	11: 82,007,408 (GRCm39)	V81A	probably damaging	Het
Dgcr6	A	G	16: 17,888,771 (GRCm39)	T69A	unknown	Het
Dnah10	A	G	5: 124,898,333 (GRCm39)	D3762G	probably benign	Het
Eif3d	T	C	15: 77,845,876 (GRCm39)	T382A	probably benign	Het
Epb41	A	T	4: 131,717,030 (GRCm39)	Y375N	probably damaging	Het
Epb41l1	A	T	2: 156,345,771 (GRCm39)	H258L	probably damaging	Het
Fbn1	A	C	2: 125,321,115 (GRCm39)	I81S	possibly damaging	Het
Fzd5	A	G	1: 64,774,487 (GRCm39)	S425P	probably damaging	Het
Gfra2	T	A	14: 71,205,831 (GRCm39)	V398D	probably benign	Het
Gm3755	A	G	14: 18,620,904 (GRCm39)	L130P		Het
Grin3b	A	G	10: 79,811,529 (GRCm39)	Y705C	probably damaging	Het
Hmcn2	A	G	2: 31,349,093 (GRCm39)	D4944G	probably damaging	Het
Hoxd11	T	C	2: 74,514,355 (GRCm39)	L295P	probably damaging	Het
Ighv1-81	C	A	12: 115,884,287 (GRCm39)	G16C	possibly damaging	Het
Kcna5	T	C	6: 126,510,754 (GRCm39)	D458G	possibly damaging	Het
Klb	A	T	5: 65,540,707 (GRCm39)	E933D	probably benign	Het
Lrp1	A	T	10: 127,381,433 (GRCm39)	M3855K	probably benign	Het
Map3k4	A	T	17: 12,489,833 (GRCm39)	L533I	probably damaging	Het
Mrps6	C	A	16: 91,855,335 (GRCm39)	Y4*	probably null	Het
Nabp1	A	T	1: 51,512,229 (GRCm39)	V105E	probably damaging	Het
Naip6	T	A	13: 100,435,896 (GRCm39)	N876Y	possibly damaging	Het
Nlrp2	T	C	7: 5,311,644 (GRCm39)	S944G	possibly damaging	Het
Nr4a3	A	T	4: 48,083,238 (GRCm39)	E590D	probably benign	Het
Or10h5	A	G	17: 33,434,673 (GRCm39)	I215T	probably damaging	Het
Or1b1	T	C	2: 36,995,603 (GRCm39)	R20G	probably null	Het
Or52ab2	T	A	7: 102,970,494 (GRCm39)	V292E		Het
Or5j1	A	T	2: 86,878,823 (GRCm39)	Y252*	probably null	Het
Or8k22	C	T	2: 86,162,908 (GRCm39)	S264N	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pdzd2	T	C	15: 12,437,248 (GRCm39)	D451G	probably damaging	Het
Pkd2l1	A	G	19: 44,146,129 (GRCm39)	S142P	probably benign	Het
Postn	T	C	3: 54,277,701 (GRCm39)	L232P	probably damaging	Het
Prss8	T	C	7: 127,528,735 (GRCm39)	T33A	probably benign	Het
Ptgr3	A	G	18: 84,113,260 (GRCm39)	Y312C	probably damaging	Het
Rapgef2	A	T	3: 79,053,130 (GRCm39)	M1K	probably null	Het
Rasa3	T	C	8: 13,645,857 (GRCm39)	N161S	possibly damaging	Het
Riox1	G	A	12: 83,997,442 (GRCm39)		probably benign	Het
Rmdn2	A	T	17: 79,929,040 (GRCm39)	K97N	probably damaging	Het
Sgo1	A	G	17: 53,984,085 (GRCm39)	L431P	probably damaging	Het
Slc9a8	T	A	2: 167,293,222 (GRCm39)	V217E	probably damaging	Het
Slco2b1	C	T	7: 99,341,055 (GRCm39)	G21D	not run	Het
Spata31d1d	C	A	13: 59,874,790 (GRCm39)	R915L	probably benign	Het
Stk17b	A	T	1: 53,805,104 (GRCm39)	N152K	probably benign	Het
Syne2	T	A	12: 76,030,798 (GRCm39)	I3634N	probably damaging	Het
Tnfrsf9	A	G	4: 151,018,794 (GRCm39)	D155G	probably damaging	Het
Tnrc6a	T	A	7: 122,770,731 (GRCm39)	D840E	probably benign	Het
Tyk2	G	A	9: 21,021,500 (GRCm39)	S902L	probably benign	Het
Unc119	T	C	11: 78,239,449 (GRCm39)	S235P	probably damaging	Het
Vav1	A	C	17: 57,609,266 (GRCm39)	D394A	probably benign	Het
Zfp335	A	T	2: 164,752,741 (GRCm39)	M1K	probably null	Het
Zfp715	T	C	7: 42,960,562 (GRCm39)	T10A	possibly damaging	Het
Zmynd11	C	T	13: 9,740,445 (GRCm39)	E382K	possibly damaging	Het

Other mutations in Vezf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00531:Vezf1	APN	11	87,964,320 (GRCm39)	missense	probably benign	0.14
IGL00576:Vezf1	APN	11	87,964,470 (GRCm39)	nonsense	probably null
IGL02683:Vezf1	APN	11	87,967,153 (GRCm39)	missense	probably benign	0.36
IGL02700:Vezf1	APN	11	87,964,129 (GRCm39)	missense	probably damaging	0.97
IGL02701:Vezf1	APN	11	87,967,047 (GRCm39)	nonsense	probably null
R0541:Vezf1	UTSW	11	87,972,403 (GRCm39)	missense	possibly damaging	0.77
R0591:Vezf1	UTSW	11	88,068,435 (GRCm38)	critical splice donor site	probably benign
R0592:Vezf1	UTSW	11	88,068,435 (GRCm38)	critical splice donor site	probably benign
R0725:Vezf1	UTSW	11	87,964,156 (GRCm39)	missense	probably benign	0.04
R0758:Vezf1	UTSW	11	88,068,435 (GRCm38)	critical splice donor site	probably benign
R0803:Vezf1	UTSW	11	88,068,435 (GRCm38)	critical splice donor site	probably benign
R0853:Vezf1	UTSW	11	88,068,435 (GRCm38)	critical splice donor site	probably benign
R0854:Vezf1	UTSW	11	88,068,435 (GRCm38)	critical splice donor site	probably benign
R1491:Vezf1	UTSW	11	87,964,573 (GRCm39)	missense	probably damaging	1.00
R1605:Vezf1	UTSW	11	87,967,125 (GRCm39)	missense	possibly damaging	0.75
R1781:Vezf1	UTSW	11	87,972,447 (GRCm39)	missense	probably benign	0.28
R3898:Vezf1	UTSW	11	87,966,999 (GRCm39)	missense	probably benign
R4656:Vezf1	UTSW	11	87,965,493 (GRCm39)	missense	probably damaging	1.00
R4868:Vezf1	UTSW	11	87,965,520 (GRCm39)	missense	probably damaging	1.00
R5946:Vezf1	UTSW	11	87,964,560 (GRCm39)	nonsense	probably null
R6190:Vezf1	UTSW	11	87,967,012 (GRCm39)	missense	probably benign	0.02
R6258:Vezf1	UTSW	11	87,972,326 (GRCm39)	missense	probably damaging	1.00
R6260:Vezf1	UTSW	11	87,972,326 (GRCm39)	missense	probably damaging	1.00
R6452:Vezf1	UTSW	11	87,972,496 (GRCm39)	missense	possibly damaging	0.66
R6680:Vezf1	UTSW	11	87,972,410 (GRCm39)	missense	probably benign	0.23
R6983:Vezf1	UTSW	11	87,964,145 (GRCm39)	missense	possibly damaging	0.88
R7086:Vezf1	UTSW	11	87,969,364 (GRCm39)	missense	probably benign	0.00
R7443:Vezf1	UTSW	11	87,965,489 (GRCm39)	missense	probably damaging	1.00
R8942:Vezf1	UTSW	11	87,972,553 (GRCm39)	missense	probably benign	0.11
R9006:Vezf1	UTSW	11	87,965,542 (GRCm39)	missense	probably damaging	1.00
X0019:Vezf1	UTSW	11	88,068,435 (GRCm38)	critical splice donor site	probably benign
X0067:Vezf1	UTSW	11	87,972,554 (GRCm39)	missense	probably benign	0.24
Z1176:Vezf1	UTSW	11	87,965,548 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTTTGAGAGTCTAAAGTCCCC -3'
(R):5'- ATTGAGAGGGGCAGCTAATGTC -3'

Sequencing Primer
(F):5'- TTAGAAGCTGCCAACCTGTG -3'
(R):5'- CAGCTAATGTCATAGGAGTGGGC -3'

Posted On

2019-06-26