Incidental Mutation 'IGL01448:Vezt'
ID 84522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vezt
Ensembl Gene ENSMUSG00000036099
Gene Name vezatin, adherens junctions transmembrane protein
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01448
Quality Score
Status
Chromosome 10
Chromosomal Location 93797384-93871661 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93832719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 231 (I231F)
Ref Sequence ENSEMBL: ENSMUSP00000121727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047711] [ENSMUST00000118077] [ENSMUST00000118205] [ENSMUST00000119818] [ENSMUST00000123201] [ENSMUST00000141241] [ENSMUST00000150704] [ENSMUST00000150344]
AlphaFold Q3ZK22
Predicted Effect probably damaging
Transcript: ENSMUST00000047711
AA Change: I231F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037955
Gene: ENSMUSG00000036099
AA Change: I231F

DomainStartEndE-ValueType
low complexity region 100 117 N/A INTRINSIC
Pfam:Vezatin 149 440 1.6e-60 PFAM
low complexity region 566 581 N/A INTRINSIC
low complexity region 702 715 N/A INTRINSIC
low complexity region 764 779 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118077
AA Change: I231F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113983
Gene: ENSMUSG00000036099
AA Change: I231F

DomainStartEndE-ValueType
low complexity region 100 117 N/A INTRINSIC
Pfam:Vezatin 149 440 9.2e-61 PFAM
low complexity region 566 581 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118205
AA Change: I231F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113321
Gene: ENSMUSG00000036099
AA Change: I231F

DomainStartEndE-ValueType
low complexity region 100 117 N/A INTRINSIC
Pfam:Vezatin 149 440 1e-60 PFAM
low complexity region 566 581 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119818
AA Change: I231F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113715
Gene: ENSMUSG00000036099
AA Change: I231F

DomainStartEndE-ValueType
low complexity region 100 117 N/A INTRINSIC
Pfam:Vezatin 150 442 1e-93 PFAM
low complexity region 570 585 N/A INTRINSIC
low complexity region 706 719 N/A INTRINSIC
low complexity region 768 783 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123201
SMART Domains Protein: ENSMUSP00000114550
Gene: ENSMUSG00000036099

DomainStartEndE-ValueType
low complexity region 100 117 N/A INTRINSIC
Pfam:Vezatin 120 190 2.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132735
Predicted Effect probably damaging
Transcript: ENSMUST00000141241
AA Change: I41F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123575
Gene: ENSMUSG00000036099
AA Change: I41F

DomainStartEndE-ValueType
Pfam:Vezatin 1 97 1.2e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000150704
AA Change: I231F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121727
Gene: ENSMUSG00000036099
AA Change: I231F

DomainStartEndE-ValueType
low complexity region 100 117 N/A INTRINSIC
Pfam:Vezatin 149 256 1.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150344
SMART Domains Protein: ENSMUSP00000122561
Gene: ENSMUSG00000036099

DomainStartEndE-ValueType
low complexity region 120 137 N/A INTRINSIC
transmembrane domain 180 202 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a transmembrane protein that is essential for the formation of adherens junctions. It is required for both the pre-implantation morphogenesis of a blastocyst and for the implantation process. The encoded protein is also a component of the ankle-link complex in cochlear hair cells, where it may effect resilience to sound trauma. It is also thought to be involved in dendritic spine morphogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a null allele develop to the blastocyst stage inducing a decidual response but die at implantation. Only about half of blastocysts are able to hatch upon in vitro culture and mutant outgrowths show severe defects in intercellular adhesion and signs of cellular degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,247,767 (GRCm39) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,779 (GRCm39) probably benign Het
2610303G11Rik T A 9: 98,068,762 (GRCm39) noncoding transcript Het
4931414P19Rik T C 14: 54,823,417 (GRCm39) D320G possibly damaging Het
Adamts6 G A 13: 104,433,672 (GRCm39) E34K probably damaging Het
Alms1 T A 6: 85,654,881 (GRCm39) N3142K possibly damaging Het
Anapc7 G A 5: 122,566,276 (GRCm39) A62T probably damaging Het
Atp8b3 G A 10: 80,356,256 (GRCm39) P1152L probably benign Het
Cc2d2a C T 5: 43,841,527 (GRCm39) T181I possibly damaging Het
Celsr2 A G 3: 108,300,555 (GRCm39) L2835P probably damaging Het
Ctns A T 11: 73,079,548 (GRCm39) V99D possibly damaging Het
Dchs1 T C 7: 105,421,134 (GRCm39) R429G probably damaging Het
Ddx11 T C 17: 66,441,132 (GRCm39) V218A probably damaging Het
Eftud2 G A 11: 102,756,389 (GRCm39) probably benign Het
Erich1 G T 8: 14,128,853 (GRCm39) T29N possibly damaging Het
Exosc8 T C 3: 54,636,686 (GRCm39) E215G probably damaging Het
Fam184a G T 10: 53,575,045 (GRCm39) A188E probably benign Het
Fign A G 2: 63,810,032 (GRCm39) S413P probably damaging Het
Fkbp6 A G 5: 135,378,550 (GRCm39) S33P probably damaging Het
Glb1 A G 9: 114,279,745 (GRCm39) probably benign Het
H2-Q1 T C 17: 35,542,437 (GRCm39) probably benign Het
Helz2 T C 2: 180,875,770 (GRCm39) T1575A probably damaging Het
Il18r1 A G 1: 40,513,890 (GRCm39) E32G probably damaging Het
Ints5 C T 19: 8,872,851 (GRCm39) P270L possibly damaging Het
Itga7 G T 10: 128,785,337 (GRCm39) E847* probably null Het
Kcns3 A C 12: 11,141,644 (GRCm39) S352A possibly damaging Het
Kiz A G 2: 146,705,721 (GRCm39) K94E probably benign Het
Lin7b C T 7: 45,018,624 (GRCm39) V12M probably damaging Het
Myo18b A T 5: 112,959,570 (GRCm39) I1409N probably damaging Het
Myo5b A G 18: 74,777,161 (GRCm39) H407R probably damaging Het
Nelfa T C 5: 34,056,146 (GRCm39) T506A probably damaging Het
Or10p21 A G 10: 128,847,729 (GRCm39) T192A probably damaging Het
Or4d5 A T 9: 40,012,378 (GRCm39) M136K probably damaging Het
Or5p72 T A 7: 108,022,235 (GRCm39) Y152* probably null Het
Or6c69 A G 10: 129,748,114 (GRCm39) I11T possibly damaging Het
Pclo A C 5: 14,726,408 (GRCm39) probably benign Het
Pes1 G A 11: 3,927,979 (GRCm39) E544K possibly damaging Het
Rabgap1l A G 1: 160,568,315 (GRCm39) probably benign Het
Rapgef2 T C 3: 78,976,244 (GRCm39) M1521V probably benign Het
Rapgef2 C T 3: 79,011,269 (GRCm39) probably null Het
Reln A G 5: 22,245,403 (GRCm39) V735A probably benign Het
Slc2a4 A G 11: 69,835,902 (GRCm39) S316P possibly damaging Het
Smarce1 C T 11: 99,101,013 (GRCm39) G373E possibly damaging Het
Spata31d1a T A 13: 59,849,373 (GRCm39) R918S probably benign Het
St3gal4 T C 9: 34,963,627 (GRCm39) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm39) probably null Het
Stxbp5l T C 16: 37,036,341 (GRCm39) I425V probably damaging Het
Tcaf2 T C 6: 42,607,262 (GRCm39) T231A probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tnks A G 8: 35,307,136 (GRCm39) Y1138H probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zbed3 A G 13: 95,473,142 (GRCm39) K189E possibly damaging Het
Zfp512b T C 2: 181,229,578 (GRCm39) T625A possibly damaging Het
Zfp827 A T 8: 79,787,362 (GRCm39) Q176L possibly damaging Het
Other mutations in Vezt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Vezt APN 10 93,832,859 (GRCm39) missense probably benign 0.00
IGL02014:Vezt APN 10 93,832,811 (GRCm39) missense probably benign 0.35
IGL03072:Vezt APN 10 93,809,895 (GRCm39) missense probably damaging 1.00
R0542:Vezt UTSW 10 93,842,958 (GRCm39) critical splice acceptor site probably null
R1633:Vezt UTSW 10 93,820,138 (GRCm39) missense probably damaging 1.00
R1757:Vezt UTSW 10 93,806,425 (GRCm39) missense probably benign
R1808:Vezt UTSW 10 93,826,026 (GRCm39) missense probably damaging 1.00
R4296:Vezt UTSW 10 93,809,793 (GRCm39) small deletion probably benign
R4972:Vezt UTSW 10 93,836,212 (GRCm39) critical splice donor site probably null
R5079:Vezt UTSW 10 93,856,486 (GRCm39) splice site probably null
R5137:Vezt UTSW 10 93,806,372 (GRCm39) missense probably benign 0.00
R5319:Vezt UTSW 10 93,806,193 (GRCm39) missense probably benign
R5743:Vezt UTSW 10 93,832,957 (GRCm39) missense probably benign 0.01
R6002:Vezt UTSW 10 93,836,336 (GRCm39) missense probably damaging 1.00
R6281:Vezt UTSW 10 93,809,808 (GRCm39) missense probably benign 0.04
R6652:Vezt UTSW 10 93,806,141 (GRCm39) missense probably damaging 1.00
R6681:Vezt UTSW 10 93,832,859 (GRCm39) missense probably benign 0.00
R6914:Vezt UTSW 10 93,806,313 (GRCm39) missense probably benign
R7100:Vezt UTSW 10 93,832,795 (GRCm39) missense probably benign 0.13
R7131:Vezt UTSW 10 93,806,409 (GRCm39) nonsense probably null
R7743:Vezt UTSW 10 93,816,286 (GRCm39) missense probably damaging 1.00
R8137:Vezt UTSW 10 93,775,154 (GRCm39) missense
R8393:Vezt UTSW 10 93,832,704 (GRCm39) missense probably damaging 1.00
R9006:Vezt UTSW 10 93,809,874 (GRCm39) missense probably benign
R9043:Vezt UTSW 10 93,820,027 (GRCm39) missense probably damaging 0.99
R9453:Vezt UTSW 10 93,832,856 (GRCm39) nonsense probably null
R9753:Vezt UTSW 10 93,806,183 (GRCm39) missense probably benign 0.00
Posted On 2013-11-11