Incidental Mutation 'R0592:Vezf1'
ID 56029
Institutional Source Beutler Lab
Gene Symbol Vezf1
Ensembl Gene ENSMUSG00000018377
Gene Name vascular endothelial zinc finger 1
Synonyms db1
MMRRC Submission 038782-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0592 (G1)
Quality Score 187
Status Not validated
Chromosome 11
Chromosomal Location 87959105-87975555 bp(+) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) A to T at 88068435 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000018521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018521]
AlphaFold Q5SXC4
Predicted Effect probably benign
Transcript: ENSMUST00000018521
SMART Domains Protein: ENSMUSP00000018521
Gene: ENSMUSG00000018377

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000152627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156149
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (35/35)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2a GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC 19: 6,295,037 (GRCm39) probably benign Het
Bbs7 A T 3: 36,664,446 (GRCm39) V53D probably benign Het
Bglap T A 3: 88,290,962 (GRCm39) I90F probably benign Het
C2cd4b G A 9: 67,667,973 (GRCm39) R323H probably damaging Het
Cdh5 T A 8: 104,857,534 (GRCm39) probably null Het
Cdh8 T A 8: 100,006,110 (GRCm39) D159V probably damaging Het
Dnah7a A G 1: 53,495,771 (GRCm39) Y3229H possibly damaging Het
Dzip1 T C 14: 119,139,551 (GRCm39) E381G probably damaging Het
Elmod1 A G 9: 53,833,390 (GRCm39) probably benign Het
Exosc10 T C 4: 148,665,570 (GRCm39) S811P probably benign Het
Fhl3 A G 4: 124,599,470 (GRCm39) Y15C probably benign Het
Gstz1 G A 12: 87,210,495 (GRCm39) S126N probably benign Het
Hey2 C A 10: 30,709,953 (GRCm39) A267S probably benign Het
Iqce A T 5: 140,671,862 (GRCm39) probably null Het
Katnal2 A T 18: 77,090,256 (GRCm39) probably null Het
Kdm2b G A 5: 123,099,197 (GRCm39) probably benign Het
Mov10l1 A G 15: 88,882,969 (GRCm39) probably null Het
Numa1 A G 7: 101,663,104 (GRCm39) T724A probably benign Het
Oas3 A G 5: 120,909,214 (GRCm39) F244S probably damaging Het
Or2d2 G A 7: 106,728,550 (GRCm39) L17F probably benign Het
Or5b117 T C 19: 13,431,069 (GRCm39) I271V probably benign Het
Rab37 T G 11: 115,051,349 (GRCm39) probably benign Het
Riox2 T C 16: 59,309,942 (GRCm39) probably benign Het
Ryr3 A G 2: 112,508,826 (GRCm39) S3358P probably damaging Het
Sash1 T A 10: 8,605,546 (GRCm39) H948L probably benign Het
Serpinb6e T A 13: 34,025,057 (GRCm39) N78I probably damaging Het
Slc25a47 G A 12: 108,820,184 (GRCm39) V63M probably damaging Het
Slc9b1 A T 3: 135,099,835 (GRCm39) probably benign Het
Strip2 T A 6: 29,931,209 (GRCm39) S387T probably benign Het
Tcaf3 T C 6: 42,573,777 (GRCm39) N145S probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Trmu T C 15: 85,781,027 (GRCm39) probably benign Het
Vmn2r116 C T 17: 23,605,889 (GRCm39) T267I probably damaging Het
Whrn C A 4: 63,333,804 (GRCm39) A450S probably damaging Het
Ypel1 A G 16: 16,925,083 (GRCm39) S30P probably benign Het
Other mutations in Vezf1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCCCGGAGGTTACCGGAAGTGG -3'
(R):5'- TGGCGGCGAAGCCAGAGATACC -3'

Sequencing Primer
(F):5'- GCTGCCATGTTGAGGAgc -3'
(R):5'- AGGGTCAGAAAGTCAACACAC -3'
Posted On 2013-07-11