Incidental Mutation 'R4656:Vezf1'
ID 352454
Institutional Source Beutler Lab
Gene Symbol Vezf1
Ensembl Gene ENSMUSG00000018377
Gene Name vascular endothelial zinc finger 1
Synonyms db1
MMRRC Submission 041916-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4656 (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 87965493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 245 (D245G)
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: D245G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000018521
Gene: ENSMUSG00000018377
AA Change: D245G

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 probably damaging
Transcript: ENSMUST00000143052
AA Change: D57G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114394
Gene: ENSMUSG00000018377
AA Change: D57G

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 0.1965 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 96% (80/83)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik G A 5: 88,112,534 (GRCm39) probably benign Het
4931406B18Rik T A 7: 43,150,565 (GRCm39) H69L probably benign Het
Ace2 T C X: 162,936,110 (GRCm39) S84P probably benign Het
Adgb A C 10: 10,281,050 (GRCm39) N656K probably damaging Het
Ago3 G T 4: 126,257,545 (GRCm39) Y495* probably null Het
Ahnak G A 19: 8,982,219 (GRCm39) V1168M possibly damaging Het
Armc10 A G 5: 21,866,548 (GRCm39) R271G probably benign Het
Atp4a T G 7: 30,419,373 (GRCm39) probably benign Het
Casp1 C T 9: 5,304,324 (GRCm39) P333S probably damaging Het
Ceacam9 C T 7: 16,457,574 (GRCm39) A34V probably benign Het
Ces1b C G 8: 93,784,042 (GRCm39) E488Q probably damaging Het
Ces2h A T 8: 105,741,271 (GRCm39) T88S possibly damaging Het
Cfap410 G A 10: 77,817,450 (GRCm39) R59H probably benign Het
Col2a1 C T 15: 97,874,057 (GRCm39) G1375D unknown Het
Cyp1a1 T C 9: 57,609,893 (GRCm39) F436L probably damaging Het
Dcaf7 T C 11: 105,944,624 (GRCm39) V269A probably damaging Het
Disp2 T C 2: 118,621,044 (GRCm39) L592P probably damaging Het
Eda2r T A X: 96,385,239 (GRCm39) Q171L probably damaging Het
Egln2 A G 7: 26,858,618 (GRCm39) V408A probably benign Het
Gabpb2 A G 3: 95,096,252 (GRCm39) L325P probably damaging Het
Gigyf1 C A 5: 137,523,477 (GRCm39) Y936* probably null Het
Gm14149 A T 2: 151,072,684 (GRCm39) noncoding transcript Het
Gnl2 C T 4: 124,934,790 (GRCm39) Q149* probably null Het
Gpr107 C T 2: 31,104,261 (GRCm39) T522M probably damaging Het
Grpr T A X: 162,297,992 (GRCm39) S351C probably damaging Het
Gsdma T C 11: 98,563,907 (GRCm39) L287P probably damaging Het
Herc1 A G 9: 66,301,993 (GRCm39) T652A probably damaging Het
Ifi204 C A 1: 173,587,927 (GRCm39) probably benign Het
Irx2 T C 13: 72,779,417 (GRCm39) S234P probably damaging Het
Itgal T A 7: 126,921,725 (GRCm39) D808E probably damaging Het
Krt13 C A 11: 100,010,189 (GRCm39) R264L probably damaging Het
Marchf1 T A 8: 66,839,071 (GRCm39) L38I probably benign Het
Megf9 T C 4: 70,367,004 (GRCm39) H326R probably damaging Het
Mif4gd G T 11: 115,499,163 (GRCm39) probably benign Het
Mroh9 A T 1: 162,893,593 (GRCm39) M194K probably damaging Het
Nhlrc3 A G 3: 53,370,501 (GRCm39) S22P probably damaging Het
Nipal2 A T 15: 34,577,714 (GRCm39) probably null Het
Nr1h4 A G 10: 89,334,115 (GRCm39) S78P probably benign Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Olfr908 A T 9: 38,427,852 (GRCm39) N175Y probably damaging Het
Or1e30 A T 11: 73,678,337 (GRCm39) D191V probably damaging Het
Or52d13 C T 7: 103,109,695 (GRCm39) R235Q probably benign Het
Pdzd2 A G 15: 12,385,797 (GRCm39) V991A probably benign Het
Pex1 G A 5: 3,654,880 (GRCm39) probably null Het
Plch1 G T 3: 63,611,598 (GRCm39) A859E probably damaging Het
Pramel32 T C 4: 88,548,202 (GRCm39) T68A probably benign Het
Ranbp2 A G 10: 58,289,244 (GRCm39) K84R possibly damaging Het
Rbm14 T C 19: 4,861,463 (GRCm39) Y25C probably damaging Het
Rmi2 A G 16: 10,653,186 (GRCm39) D78G probably damaging Het
Serpina3k C A 12: 104,311,532 (GRCm39) T370K probably damaging Het
Shc2 A T 10: 79,457,003 (GRCm39) L538M probably damaging Het
Skint1 A G 4: 111,878,674 (GRCm39) K202R probably damaging Het
Slc22a29 C A 19: 8,195,664 (GRCm39) S125I possibly damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Slco4c1 A T 1: 96,768,970 (GRCm39) D297E probably benign Het
Slco6d1 T C 1: 98,350,928 (GRCm39) F136S probably benign Het
Smg1 A T 7: 117,812,174 (GRCm39) V39E probably benign Het
Spns1 G T 7: 125,973,474 (GRCm39) probably benign Het
Spsb1 A G 4: 149,990,867 (GRCm39) probably null Het
Sspo T G 6: 48,431,010 (GRCm39) I631S possibly damaging Het
Syne2 T C 12: 76,078,147 (GRCm39) L4694P probably damaging Het
Taf5l T C 8: 124,724,844 (GRCm39) E325G probably benign Het
Tars1 A T 15: 11,394,350 (GRCm39) S96T probably damaging Het
Tdrd12 T C 7: 35,184,679 (GRCm39) K745E probably damaging Het
Tenm3 A G 8: 48,746,761 (GRCm39) Y1015H probably damaging Het
Trpv3 T A 11: 73,186,240 (GRCm39) M677K probably damaging Het
Txlnb A T 10: 17,691,024 (GRCm39) K191N probably damaging Het
Ubr1 A G 2: 120,756,494 (GRCm39) V711A probably benign Het
Uqcrb T C 13: 67,049,603 (GRCm39) T41A probably benign Het
Usp6nl A G 2: 6,445,973 (GRCm39) Y627C probably damaging Het
Vmn2r66 A G 7: 84,661,204 (GRCm39) W9R possibly damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Wdr35 T A 12: 9,066,619 (GRCm39) M749K probably benign Het
Wrn A T 8: 33,826,019 (GRCm39) probably null Het
Zfy1 T G Y: 729,626 (GRCm39) T339P unknown 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
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
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'- GACACAGTGGTAGTTATTCCTCG -3'
(R):5'- ACTCCAATCAGTGACTTGAAGAC -3'

Sequencing Primer
(F):5'- ACAGTGGTAGTTATTCCTCGTATTAG -3'
(R):5'- CCAATCAGTGACTTGAAGACTATTC -3'
Posted On 2015-10-08