Mutagenetix > Incidental Mutation

Incidental Mutation 'R6190:Vezf1'

502491

Institutional Source

Beutler Lab

Gene Symbol

Vezf1

Ensembl Gene

ENSMUSG00000018377

Gene Name

vascular endothelial zinc finger 1

Synonyms

db1

MMRRC Submission

044330-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6190 (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 C at 87967012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 81 (M81T)

Ref Sequence

ENSEMBL: ENSMUSP00000114394 (fasta)

Gene Model

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

AlphaFold

Q5SXC4

Predicted Effect

probably benign
Transcript: ENSMUST00000018521

SMART Domains

Protein: ENSMUSP00000018521
Gene: ENSMUSG00000018377

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: M81T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000114394
Gene: ENSMUSG00000018377
AA Change: M81T

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: 99.6%
20x: 98.8%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,423,472 (GRCm39)	L224Q	probably damaging	Het
Abcc5	A	G	16: 20,211,529 (GRCm39)	M478T	probably benign	Het
Acot10	T	C	15: 20,665,871 (GRCm39)	D290G	possibly damaging	Het
Actr3b	A	G	5: 26,036,688 (GRCm39)	Q167R	probably benign	Het
Actr8	C	T	14: 29,713,674 (GRCm39)	R565*	probably null	Het
Adcy7	C	T	8: 89,052,358 (GRCm39)		probably null	Het
Adgrb3	C	T	1: 25,459,728 (GRCm39)	V576I	probably benign	Het
Adgrv1	T	A	13: 81,607,882 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,672,898 (GRCm39)		probably null	Het
Ak2	A	G	4: 128,892,976 (GRCm39)	D45G	probably damaging	Het
Ak9	C	G	10: 41,298,403 (GRCm39)	Q1489E	unknown	Het
Ak9	A	T	10: 41,298,404 (GRCm39)	Q1489L	unknown	Het
Akap12	C	A	10: 4,306,268 (GRCm39)	S1026Y	possibly damaging	Het
Ankhd1	T	G	18: 36,744,862 (GRCm39)	S601A	possibly damaging	Het
Apba2	A	T	7: 64,389,628 (GRCm39)	E508V	probably damaging	Het
Arhgap18	A	G	10: 26,722,031 (GRCm39)	M1V	probably null	Het
Arhgef10l	G	A	4: 140,270,073 (GRCm39)	T865M	possibly damaging	Het
Bdh1	T	A	16: 31,268,715 (GRCm39)	V150D	probably damaging	Het
Becn1	A	G	11: 101,186,200 (GRCm39)	C135R	probably damaging	Het
C2cd4d	A	G	3: 94,271,226 (GRCm39)	D164G	probably benign	Het
Cacna1e	C	A	1: 154,362,316 (GRCm39)	V424F	possibly damaging	Het
Capn7	C	A	14: 31,085,560 (GRCm39)	T511K	probably benign	Het
Cdc5l	G	A	17: 45,718,943 (GRCm39)	P558S	probably benign	Het
Cep170	T	A	1: 176,609,975 (GRCm39)	H112L	probably damaging	Het
Cfap61	C	T	2: 145,789,053 (GRCm39)	T19M	probably benign	Het
Clca3a1	A	G	3: 144,463,821 (GRCm39)	V152A	probably benign	Het
Cnot10	G	T	9: 114,461,791 (GRCm39)	T24K	probably damaging	Het
Cntnap5b	T	A	1: 100,306,800 (GRCm39)	I839N	possibly damaging	Het
Cyp4f13	A	T	17: 33,148,847 (GRCm39)	D299E	probably damaging	Het
Dclk1	A	G	3: 55,395,232 (GRCm39)	E128G	probably damaging	Het
Dennd1b	T	C	1: 139,061,413 (GRCm39)	I365T	probably damaging	Het
Dgcr8	T	C	16: 18,102,274 (GRCm39)	T3A	probably damaging	Het
Dld	A	C	12: 31,394,847 (GRCm39)	I58S	probably damaging	Het
Dlg5	T	A	14: 24,240,506 (GRCm39)	R248S	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Faf1	C	T	4: 109,719,012 (GRCm39)	L373F	probably damaging	Het
Fam171b	C	T	2: 83,707,042 (GRCm39)	T304I	probably benign	Het
Fcgrt	A	T	7: 44,751,622 (GRCm39)		probably null	Het
Gimap9	T	C	6: 48,655,285 (GRCm39)	W291R	probably damaging	Het
Gm4847	G	A	1: 166,457,892 (GRCm39)	A487V	probably damaging	Het
Gria4	T	A	9: 4,420,199 (GRCm39)	I888F	probably benign	Het
Hapln2	T	A	3: 87,930,600 (GRCm39)	I224F	probably damaging	Het
Herc1	T	G	9: 66,283,663 (GRCm39)	L332R	possibly damaging	Het
Hmgxb4	T	C	8: 75,749,927 (GRCm39)	V481A	probably benign	Het
Htr1d	T	C	4: 136,170,109 (GRCm39)	S113P	probably damaging	Het
Ift81	T	C	5: 122,689,163 (GRCm39)	Q651R	probably benign	Het
Il17ra	T	C	6: 120,452,234 (GRCm39)	S199P	probably damaging	Het
Itih2	T	C	2: 10,103,318 (GRCm39)	N723S	probably benign	Het
Jak1	A	T	4: 101,032,325 (GRCm39)	V427E	probably damaging	Het
Krt23	C	T	11: 99,376,584 (GRCm39)	D191N	probably damaging	Het
Lingo1	T	A	9: 56,526,934 (GRCm39)	I552F	possibly damaging	Het
Llgl2	G	A	11: 115,737,812 (GRCm39)	R199Q	probably benign	Het
Lrrc37a	G	T	11: 103,392,042 (GRCm39)	Q1128K	possibly damaging	Het
Lrrc74a	T	C	12: 86,783,263 (GRCm39)	V36A	probably benign	Het
M1ap	T	A	6: 82,980,877 (GRCm39)	D254E	possibly damaging	Het
Mal2	C	T	15: 54,434,794 (GRCm39)		probably benign	Het
Mbnl2	A	G	14: 120,622,833 (GRCm39)	T124A	probably benign	Het
Nfatc1	A	G	18: 80,755,885 (GRCm39)	S33P	probably benign	Het
Nfkbid	A	G	7: 30,125,162 (GRCm39)	N253S	probably damaging	Het
Ngfr	T	A	11: 95,465,267 (GRCm39)	I194F	probably benign	Het
Nhsl1	A	G	10: 18,345,789 (GRCm39)		probably benign	Het
Nol9	T	A	4: 152,125,691 (GRCm39)	I214N	possibly damaging	Het
Or1o3	A	G	17: 37,573,635 (GRCm39)	S307P	probably benign	Het
Or5p56	T	C	7: 107,590,307 (GRCm39)	L245P	probably damaging	Het
Or8k3	T	A	2: 86,058,578 (GRCm39)	T246S	possibly damaging	Het
Pax3	C	T	1: 78,169,186 (GRCm39)	S160N	possibly damaging	Het
Pde3b	A	G	7: 114,122,267 (GRCm39)		probably null	Het
Pde5a	A	C	3: 122,522,956 (GRCm39)	E21A	probably benign	Het
Plcxd1	A	G	5: 110,250,469 (GRCm39)	E270G	probably damaging	Het
Plxna1	T	A	6: 89,333,586 (GRCm39)	K348*	probably null	Het
Pramel34	A	T	5: 93,785,937 (GRCm39)	N114K	probably benign	Het
Prb1b	T	A	6: 132,289,692 (GRCm39)	H44L	unknown	Het
Psg21	G	T	7: 18,388,926 (GRCm39)	D55E	possibly damaging	Het
Rasa1	C	A	13: 85,381,814 (GRCm39)	A493S	probably benign	Het
Raver2	A	G	4: 100,990,814 (GRCm39)	I396V	probably benign	Het
Rpa2	A	G	4: 132,502,331 (GRCm39)	K138E	probably benign	Het
Rsad1	T	C	11: 94,439,062 (GRCm39)	N133D	probably damaging	Het
Rusc1	T	C	3: 88,999,188 (GRCm39)	D198G	probably benign	Het
Samsn1	A	T	16: 75,667,803 (GRCm39)	Y258N	probably damaging	Het
Scap	A	G	9: 110,203,135 (GRCm39)	N270D	probably benign	Het
Shisal2a	A	T	4: 108,225,052 (GRCm39)	I170N	probably damaging	Het
Smpd4	T	C	16: 17,449,877 (GRCm39)	Y200H	probably damaging	Het
Steap2	A	G	5: 5,725,881 (GRCm39)	V381A	probably damaging	Het
Syk	C	T	13: 52,765,089 (GRCm39)	T72I	probably damaging	Het
Tbc1d14	T	C	5: 36,729,228 (GRCm39)	D66G	possibly damaging	Het
Tcp11	A	G	17: 28,290,691 (GRCm39)	Y223H	probably benign	Het
Timm9	A	G	12: 71,173,124 (GRCm39)	S8P	probably benign	Het
Tmpo	T	C	10: 91,000,069 (GRCm39)		probably null	Het
Vipr1	T	A	9: 121,493,719 (GRCm39)	W257R	probably damaging	Het
Vmn1r237	G	A	17: 21,534,556 (GRCm39)	G93D	probably damaging	Het
Vmn2r6	A	G	3: 64,445,424 (GRCm39)	V678A	probably benign	Het
Vmn2r85	T	C	10: 130,261,330 (GRCm39)	T336A	possibly damaging	Het
Xpnpep3	C	A	15: 81,322,300 (GRCm39)	D296E	probably benign	Het
Zfp35	C	A	18: 24,137,118 (GRCm39)	H487Q	probably benign	Het
Zfp606	A	T	7: 12,227,928 (GRCm39)	Y625F	probably damaging	Het
Zfp677	A	G	17: 21,617,530 (GRCm39)	T196A	possibly damaging	Het
Zmym1	T	C	4: 126,941,677 (GRCm39)	I904V	probably 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
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
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'- AGTGTGGGCCTCATCTTTTCAC -3'
(R):5'- GCTGATGCCTTGTTTGCAC -3'

Sequencing Primer
(F):5'- ATGTTTTCTTCCTCCAAATAGAAGCC -3'
(R):5'- TTGCACGTGTTACAGTTGATAC -3'

Posted On

2018-02-27