Mutagenetix > Incidental Mutation

Incidental Mutation 'R8942:Vezf1'

681055

Institutional Source

Beutler Lab

Gene Symbol

Vezf1

Ensembl Gene

ENSMUSG00000018377

Gene Name

vascular endothelial zinc finger 1

Synonyms

db1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8942 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87959105-87975555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87972553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 305 (T305A)

Ref Sequence

ENSEMBL: ENSMUSP00000114394 (fasta)

Gene Model

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

AlphaFold

Q5SXC4

Predicted Effect

probably benign
Transcript: ENSMUST00000018521
AA Change: T487A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000018521
Gene: ENSMUSG00000018377
AA Change: T487A

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: T305A

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114394
Gene: ENSMUSG00000018377
AA Change: T305A

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: 99.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,790,732 (GRCm39)	D833E	probably damaging	Het
Adgrl3	A	T	5: 81,796,568 (GRCm39)	I626L	probably benign	Het
AI182371	A	C	2: 34,990,622 (GRCm39)	L25R	probably damaging	Het
Atp2b2	G	T	6: 113,790,991 (GRCm39)	Q138K	probably benign	Het
Atp8b5	T	C	4: 43,353,658 (GRCm39)	F491L	probably damaging	Het
Bcap29	T	A	12: 31,684,353 (GRCm39)	M1L	probably damaging	Het
C1qtnf7	A	G	5: 43,773,583 (GRCm39)	D294G	probably benign	Het
Ccdc170	C	T	10: 4,484,044 (GRCm39)	A290V	probably benign	Het
Cfhr2	A	T	1: 139,741,292 (GRCm39)	L228I	probably benign	Het
Clip4	T	A	17: 72,170,768 (GRCm39)	V645D	probably benign	Het
Cyp4a31	C	T	4: 115,426,918 (GRCm39)	R173W	possibly damaging	Het
Dis3l	T	C	9: 64,214,875 (GRCm39)	K898R	probably benign	Het
Efr3b	G	T	12: 4,032,091 (GRCm39)	H172Q	possibly damaging	Het
Eipr1	A	T	12: 28,917,053 (GRCm39)	N374Y	probably damaging	Het
Exoc3l4	A	T	12: 111,392,002 (GRCm39)	E414D	possibly damaging	Het
Exoc3l4	G	T	12: 111,392,003 (GRCm39)	V415L	probably benign	Het
Faap100	G	T	11: 120,267,856 (GRCm39)	H306N	possibly damaging	Het
Gapvd1	T	C	2: 34,619,134 (GRCm39)	T80A	probably benign	Het
Gen1	A	G	12: 11,292,287 (GRCm39)	S501P	probably benign	Het
Gm10643	A	G	8: 84,790,799 (GRCm39)		probably benign	Het
Hecw1	A	T	13: 14,481,395 (GRCm39)	V445D	probably benign	Het
Hells	CT	C	19: 38,942,045 (GRCm39)		probably null	Het
Hnrnpr	T	G	4: 136,059,791 (GRCm39)	D197E	possibly damaging	Het
Hspb1	G	A	5: 135,916,928 (GRCm39)	V6M	probably damaging	Het
Iglon5	A	G	7: 43,126,315 (GRCm39)	V196A	probably benign	Het
Ints2	T	C	11: 86,103,720 (GRCm39)	T1142A	probably benign	Het
Katnip	T	G	7: 125,449,975 (GRCm39)	L1013R	probably damaging	Het
Kcnq2	T	A	2: 180,724,244 (GRCm39)	D587V	probably damaging	Het
Lmln	C	T	16: 32,901,330 (GRCm39)	P242L	probably damaging	Het
Mapt	G	A	11: 104,173,307 (GRCm39)		probably null	Het
Mrgpre	T	C	7: 143,335,002 (GRCm39)	Y167C		Het
Mtx2	A	T	2: 74,699,696 (GRCm39)	I156F	probably benign	Het
Nipbl	A	T	15: 8,381,104 (GRCm39)	S563T	probably benign	Het
Nmbr	C	T	10: 14,646,197 (GRCm39)	S357L	probably benign	Het
Or10ak14	A	T	4: 118,611,594 (GRCm39)	I49N	possibly damaging	Het
Or4e1	A	C	14: 52,700,692 (GRCm39)	I258S	probably damaging	Het
Or4f14	T	A	2: 111,743,207 (GRCm39)	I23F	probably benign	Het
Or4f60	T	C	2: 111,902,802 (GRCm39)	N42S	probably damaging	Het
Or4k15b	A	C	14: 50,272,602 (GRCm39)	L86R	probably damaging	Het
Or4p4	C	T	2: 88,483,308 (GRCm39)	L271F	possibly damaging	Het
Pctp	A	G	11: 89,875,554 (GRCm39)	M203T	possibly damaging	Het
Pip4k2c	A	G	10: 127,036,084 (GRCm39)	V261A	probably benign	Het
Pm20d1	G	T	1: 131,739,785 (GRCm39)	V378F	possibly damaging	Het
Ppcdc	C	T	9: 57,342,265 (GRCm39)	R19H	probably benign	Het
Pramel26	T	C	4: 143,536,861 (GRCm39)	N490S	probably benign	Het
Sdk1	A	G	5: 142,082,598 (GRCm39)	E1332G	probably damaging	Het
Sgce	G	T	6: 4,730,027 (GRCm39)	L66M	probably benign	Het
Sycp2l	G	T	13: 41,277,522 (GRCm39)		probably null	Het
Tars1	G	T	15: 11,384,183 (GRCm39)	H695N	probably benign	Het
Tdo2	A	G	3: 81,876,851 (GRCm39)	V107A	probably benign	Het
Tmem131l	A	T	3: 83,805,793 (GRCm39)	M1550K	possibly damaging	Het
Ttf2	A	C	3: 100,869,042 (GRCm39)	S431R	probably benign	Het
Unc80	A	G	1: 66,512,468 (GRCm39)	D126G	possibly damaging	Het
Usp17lb	C	T	7: 104,490,583 (GRCm39)	V115I	possibly damaging	Het
Vmn1r45	A	T	6: 89,910,876 (GRCm39)	N31K	probably benign	Het
Wdr59	T	C	8: 112,211,808 (GRCm39)	K380E	probably benign	Het
Xylt1	T	A	7: 117,233,971 (GRCm39)	Y499*	probably null	Het
Zfp777	T	C	6: 48,006,125 (GRCm39)	E467G	probably benign	Het
Zkscan4	C	A	13: 21,668,680 (GRCm39)	P406Q	probably benign	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
R7443:Vezf1	UTSW	11	87,965,489 (GRCm39)	missense	probably damaging	1.00
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'- TCACAGTGGCAGCTGCAATG -3'
(R):5'- AAACCTCCCAATTTCATAGTCTGC -3'

Sequencing Primer
(F):5'- GTCCAGTAAATGTCTCAAGTGCAG -3'
(R):5'- CTGCTTTTTGCTTTAATCAACTAAGG -3'

Posted On

2021-08-31