Mutagenetix > Incidental Mutation

Incidental Mutation 'R7443:Vezf1'

577110

Institutional Source

Beutler Lab

Gene Symbol

Vezf1

Ensembl Gene

ENSMUSG00000018377

Gene Name

vascular endothelial zinc finger 1

Synonyms

db1

MMRRC Submission

045519-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87959105-87975555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87965489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 244 (P244T)

Ref Sequence

ENSEMBL: ENSMUSP00000018521 (fasta)

Gene Model

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

AlphaFold

Q5SXC4

Predicted Effect

probably damaging
Transcript: ENSMUST00000018521
AA Change: P244T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000018521
Gene: ENSMUSG00000018377
AA Change: P244T

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 damaging
Transcript: ENSMUST00000143052
AA Change: P56T

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

SMART Domains

Protein: ENSMUSP00000114394
Gene: ENSMUSG00000018377
AA Change: P56T

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: 100.0%
10x: 99.8%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,452,951 (GRCm39)	I162T	probably damaging	Het
Acaca	G	A	11: 84,206,619 (GRCm39)	S1493N	probably benign	Het
Arf2	T	A	11: 103,859,976 (GRCm39)	M18K	probably benign	Het
Bag5	A	G	12: 111,677,161 (GRCm39)	S221P	probably damaging	Het
Bcr	T	C	10: 74,978,968 (GRCm39)		probably null	Het
Btg2	T	A	1: 134,005,433 (GRCm39)	K51*	probably null	Het
Chrne	A	G	11: 70,509,092 (GRCm39)	V130A	probably benign	Het
Cracd	T	C	5: 77,004,485 (GRCm39)	V282A	unknown	Het
Cubn	T	A	2: 13,460,320 (GRCm39)	D714V	probably damaging	Het
Cyp4a29	A	T	4: 115,105,756 (GRCm39)	I153F	probably damaging	Het
Dph7	C	A	2: 24,852,505 (GRCm39)	H5Q	probably benign	Het
Epha6	T	C	16: 59,595,988 (GRCm39)	N901S	possibly damaging	Het
Exosc9	C	A	3: 36,607,990 (GRCm39)	P66Q	probably damaging	Het
Foxn3	T	C	12: 99,355,038 (GRCm39)	D42G	possibly damaging	Het
Gbp11	A	G	5: 105,478,816 (GRCm39)		probably null	Het
Gm3264	A	T	14: 16,058,304 (GRCm39)	Y37F	probably damaging	Het
H2-M10.2	T	A	17: 36,596,945 (GRCm39)	I44F	probably benign	Het
Hemgn	A	T	4: 46,396,145 (GRCm39)	F364I	probably damaging	Het
Hnf4a	A	G	2: 163,400,932 (GRCm39)	I184V	probably benign	Het
Ighe	G	T	12: 113,235,785 (GRCm39)	C180*	probably null	Het
Iigp1c	A	T	18: 60,379,122 (GRCm39)	N219I	probably benign	Het
Klk1b22	T	A	7: 43,765,534 (GRCm39)	I162K	probably benign	Het
Lmo3	C	T	6: 138,354,220 (GRCm39)	A104T	probably damaging	Het
Lsm14a	A	G	7: 34,053,263 (GRCm39)	V263A	probably benign	Het
Ltbp1	T	C	17: 75,671,432 (GRCm39)	Y1538H	probably damaging	Het
Ly6g6g	T	C	15: 74,647,249 (GRCm39)	E32G		Het
Map9	A	G	3: 82,278,663 (GRCm39)	E221G	possibly damaging	Het
Mccc2	G	A	13: 100,130,144 (GRCm39)	A71V	possibly damaging	Het
Mdc1	T	A	17: 36,161,712 (GRCm39)	V875E	probably damaging	Het
Mier2	A	T	10: 79,376,289 (GRCm39)	I212N	unknown	Het
Mitd1	T	C	1: 37,920,117 (GRCm39)	T164A	probably benign	Het
Myh1	T	C	11: 67,111,331 (GRCm39)	I1590T	probably benign	Het
Mylk2	T	G	2: 152,753,346 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,829,652 (GRCm39)	V118E	probably benign	Het
Nynrin	G	A	14: 56,108,873 (GRCm39)	V1327I	probably benign	Het
Oas1c	C	A	5: 120,943,484 (GRCm39)	K218N	probably damaging	Het
Or11g24	A	G	14: 50,662,507 (GRCm39)	D177G	probably damaging	Het
Or13a18	A	G	7: 140,190,961 (GRCm39)	N286S	probably damaging	Het
Or1e23	A	T	11: 73,407,674 (GRCm39)	V117D	possibly damaging	Het
Or4a80	T	A	2: 89,582,285 (GRCm39)	M296L	probably benign	Het
Or5g26	T	A	2: 85,493,912 (GRCm39)	I289F	probably damaging	Het
Or5h17	T	A	16: 58,820,353 (GRCm39)	F102I	probably damaging	Het
Otoa	A	T	7: 120,731,633 (GRCm39)	M618L	probably benign	Het
P3r3urf	G	A	4: 116,030,664 (GRCm39)	G23R	probably benign	Het
Plcg2	A	T	8: 118,231,028 (GRCm39)	T37S	probably benign	Het
Plekhg4	T	C	8: 106,107,499 (GRCm39)	L1010P	probably damaging	Het
Plxnb1	T	C	9: 108,943,675 (GRCm39)	F1921L	probably damaging	Het
Prss47	T	A	13: 65,197,303 (GRCm39)	K144N	probably damaging	Het
Rapgef2	T	C	3: 78,988,531 (GRCm39)	K953E	probably damaging	Het
Rasip1	T	A	7: 45,288,148 (GRCm39)	I909N	probably damaging	Het
Rps5	A	G	7: 12,656,922 (GRCm39)	T8A	probably benign	Het
Rsbn1l	T	C	5: 21,132,621 (GRCm39)	K213E	possibly damaging	Het
Serpinb5	T	C	1: 106,809,700 (GRCm39)	F369L	probably benign	Het
Slc4a5	T	C	6: 83,241,297 (GRCm39)	V306A	probably benign	Het
Sox13	T	C	1: 133,312,369 (GRCm39)	Y465C	probably damaging	Het
Sox13	C	A	1: 133,312,311 (GRCm39)	K484N	probably damaging	Het
Stx3	A	G	19: 11,769,208 (GRCm39)	I39T	possibly damaging	Het
Tbc1d5	T	C	17: 51,273,763 (GRCm39)	Y116C	probably damaging	Het
Tcp11l1	T	A	2: 104,514,480 (GRCm39)	Q429L	probably benign	Het
Tns3	G	A	11: 8,401,442 (GRCm39)	T952I	probably benign	Het
Trib3	T	C	2: 152,181,692 (GRCm39)	H176R	possibly damaging	Het
Trim12a	A	G	7: 103,950,049 (GRCm39)	Y297H	probably damaging	Het
Unc13a	A	G	8: 72,083,603 (GRCm39)	V1577A	probably damaging	Het
Vmn1r121	T	A	7: 20,831,945 (GRCm39)	D165V	probably damaging	Het
Vmn2r117	T	A	17: 23,679,107 (GRCm39)	I706F	probably benign	Het
Vmn2r117	C	T	17: 23,679,319 (GRCm39)	C635Y	probably damaging	Het
Vmn2r13	T	A	5: 109,339,909 (GRCm39)	H22L	probably benign	Het
Vmn2r87	A	T	10: 130,308,588 (GRCm39)	M550K	probably damaging	Het
Wdr6	A	G	9: 108,451,489 (GRCm39)	L798P	probably damaging	Het
Wtap	C	T	17: 13,199,821 (GRCm39)	G54D	probably benign	Het
Zfp827	A	G	8: 79,917,047 (GRCm39)	S541G		Het
Zkscan3	A	T	13: 21,572,608 (GRCm39)	Y341*	probably null	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
R7322:Vezf1	UTSW	11	87,972,410 (GRCm39)	missense	possibly damaging	0.68
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'- ACACAGTGGTAGTTATTCCTCG -3'
(R):5'- ACTCCAATCAGTGACTTGAAGAC -3'

Sequencing Primer
(F):5'- ACAGTGGTAGTTATTCCTCGTATTAG -3'
(R):5'- CCAATCAGTGACTTGAAGACTATTC -3'

Posted On

2019-10-07