Incidental Mutation 'R0541:Vezf1'
ID 49928
Institutional Source Beutler Lab
Gene Symbol Vezf1
Ensembl Gene ENSMUSG00000018377
Gene Name vascular endothelial zinc finger 1
Synonyms db1
MMRRC Submission 038733-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0541 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 87959105-87975555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87972403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 255 (M255V)
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: M437V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000018521
Gene: ENSMUSG00000018377
AA Change: M437V

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 possibly damaging
Transcript: ENSMUST00000143052
AA Change: M255V

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114394
Gene: ENSMUSG00000018377
AA Change: M255V

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0590 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 96% (64/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,872 (GRCm39) M115V probably benign Het
4933415A04Rik TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,478,227 (GRCm39) probably null Het
Abca7 C T 10: 79,843,185 (GRCm39) A1220V probably benign Het
Adamts19 G A 18: 59,060,372 (GRCm39) probably null Het
Agbl1 G A 7: 76,058,993 (GRCm39) V194M probably benign Het
Arhgap20 G T 9: 51,760,963 (GRCm39) S902I probably damaging Het
Atp11b T G 3: 35,861,093 (GRCm39) D193E probably damaging Het
B3gntl1 A T 11: 121,535,430 (GRCm39) probably benign Het
C2cd2 T C 16: 97,723,496 (GRCm39) E7G possibly damaging Het
Camta2 A G 11: 70,572,447 (GRCm39) L259P probably benign Het
Ccni T C 5: 93,335,563 (GRCm39) N192D probably benign Het
Cgnl1 A G 9: 71,558,535 (GRCm39) I946T possibly damaging Het
Chil3 T C 3: 106,068,548 (GRCm39) probably null Het
Cntn5 A G 9: 9,673,407 (GRCm39) probably benign Het
Cpn2 C T 16: 30,078,169 (GRCm39) G511S possibly damaging Het
Dagla C A 19: 10,232,170 (GRCm39) probably null Het
Dcc T C 18: 71,392,086 (GRCm39) N1440S probably damaging Het
Drosha T A 15: 12,907,474 (GRCm39) N1069K probably benign Het
Edc4 A G 8: 106,616,060 (GRCm39) T812A probably benign Het
Eml4 A G 17: 83,747,471 (GRCm39) I238V probably benign Het
Ep400 T C 5: 110,852,882 (GRCm39) T1288A unknown Het
Fastkd1 A C 2: 69,532,750 (GRCm39) L539R probably damaging Het
Fbln7 G A 2: 128,719,454 (GRCm39) probably benign Het
Fbxo39 A G 11: 72,209,297 (GRCm39) I386V probably benign Het
Gm17430 T C 18: 9,726,267 (GRCm39) K135R probably damaging Het
Gm3646 T A 1: 39,843,483 (GRCm39) T8S unknown Het
Gtsf1 A T 15: 103,329,619 (GRCm39) V100E possibly damaging Het
Helz2 A G 2: 180,876,618 (GRCm39) F1292S possibly damaging Het
Igf2bp3 G A 6: 49,084,401 (GRCm39) probably benign Het
Ip6k2 T G 9: 108,681,826 (GRCm39) D252E probably damaging Het
Iqck T A 7: 118,514,817 (GRCm39) L232Q probably damaging Het
Kif18b A G 11: 102,806,001 (GRCm39) V186A probably damaging Het
Klhl6 T A 16: 19,768,197 (GRCm39) probably null Het
Lao1 C T 4: 118,820,999 (GRCm39) T75I probably benign Het
Lyst T C 13: 13,855,878 (GRCm39) F2400L probably benign Het
Map3k9 A T 12: 81,780,997 (GRCm39) S388T possibly damaging Het
Mmp11 G T 10: 75,762,767 (GRCm39) H229N probably damaging Het
Myh7 T G 14: 55,212,158 (GRCm39) I1529L probably benign Het
Nckap5 G T 1: 126,623,459 (GRCm39) D11E possibly damaging Het
Ncoa1 A T 12: 4,373,033 (GRCm39) F123I probably damaging Het
Nelfb A T 2: 25,093,992 (GRCm39) D385E probably benign Het
Obscn C T 11: 58,972,810 (GRCm39) V2288M probably damaging Het
Or2f1b A G 6: 42,739,154 (GRCm39) H56R probably damaging Het
Or4d6 C T 19: 12,086,884 (GRCm39) V9M possibly damaging Het
Or52x1 A T 7: 104,853,367 (GRCm39) M61K probably damaging Het
Or5b12b A G 19: 12,861,458 (GRCm39) Y71C probably damaging Het
Otog T A 7: 45,918,673 (GRCm39) probably benign Het
Oxa1l A G 14: 54,605,646 (GRCm39) E375G possibly damaging Het
Pan2 T A 10: 128,144,091 (GRCm39) I129K possibly damaging Het
Parp1 A G 1: 180,426,616 (GRCm39) I919M probably benign Het
Pnpla7 T C 2: 24,885,305 (GRCm39) Y174H probably damaging Het
Polr3b T C 10: 84,473,928 (GRCm39) F169S probably damaging Het
Rab10 T C 12: 3,314,743 (GRCm39) D45G probably damaging Het
Reln A G 5: 22,185,107 (GRCm39) S1537P possibly damaging Het
Sema6d T A 2: 124,507,197 (GRCm39) S1045T probably benign Het
Setd2 T C 9: 110,402,741 (GRCm39) V1794A probably damaging Het
Spidr T A 16: 15,733,229 (GRCm39) I589F probably damaging Het
Stmn4 A C 14: 66,595,388 (GRCm39) I165L probably benign Het
Stx5a T C 19: 8,727,301 (GRCm39) M177T probably damaging Het
Tll1 T C 8: 64,491,486 (GRCm39) probably null Het
Tmem192 T C 8: 65,416,912 (GRCm39) Y168H probably damaging Het
Ttc21a C T 9: 119,785,892 (GRCm39) probably benign Het
Ush2a A G 1: 188,446,663 (GRCm39) probably benign Het
Vmn2r25 A G 6: 123,816,786 (GRCm39) F265S probably damaging Het
Vps13a A G 19: 16,681,941 (GRCm39) S1021P probably benign Het
Wfdc16 T C 2: 164,477,773 (GRCm39) E92G possibly damaging Het
Zkscan2 T C 7: 123,079,423 (GRCm39) T845A possibly damaging 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
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
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'- GCTAACCAGGTTGCTCAGGTCTTC -3'
(R):5'- TGTTTACCAAGGCGGTGACGTAG -3'

Sequencing Primer
(F):5'- TTAGAAGCTGCCAACCTGTG -3'
(R):5'- GAAAGGCATACTTTCTACAGGC -3'
Posted On 2013-06-12