Incidental Mutation 'R5079:Vezt'
ID 387037
Institutional Source Beutler Lab
Gene Symbol Vezt
Ensembl Gene ENSMUSG00000036099
Gene Name vezatin, adherens junctions transmembrane protein
Synonyms
MMRRC Submission 042668-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5079 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 93797384-93871661 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 93856486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047711] [ENSMUST00000118077] [ENSMUST00000118205] [ENSMUST00000119818] [ENSMUST00000123201] [ENSMUST00000150344] [ENSMUST00000150704]
AlphaFold Q3ZK22
Predicted Effect probably benign
Transcript: ENSMUST00000047711
SMART Domains Protein: ENSMUSP00000037955
Gene: ENSMUSG00000036099

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 benign
Transcript: ENSMUST00000118077
SMART Domains Protein: ENSMUSP00000113983
Gene: ENSMUSG00000036099

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 benign
Transcript: ENSMUST00000118205
SMART Domains Protein: ENSMUSP00000113321
Gene: ENSMUSG00000036099

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 benign
Transcript: ENSMUST00000119818
SMART Domains Protein: ENSMUSP00000113715
Gene: ENSMUSG00000036099

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 null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154267
Predicted Effect probably benign
Transcript: ENSMUST00000150704
SMART Domains Protein: ENSMUSP00000121727
Gene: ENSMUSG00000036099

DomainStartEndE-ValueType
low complexity region 100 117 N/A INTRINSIC
Pfam:Vezatin 149 256 1.7e-18 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.6%
Validation Efficiency 90% (63/70)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,885,196 (GRCm39) S221G probably benign Het
Abca9 A T 11: 110,036,395 (GRCm39) F571L possibly damaging Het
Agbl4 T A 4: 111,423,826 (GRCm39) M284K possibly damaging Het
Ankrd16 A G 2: 11,783,710 (GRCm39) D104G probably damaging Het
Bpifc T C 10: 85,817,168 (GRCm39) D230G probably damaging Het
Casc3 C T 11: 98,701,252 (GRCm39) probably benign Het
Catsperd T C 17: 56,965,153 (GRCm39) probably null Het
Cpxm2 C T 7: 131,756,014 (GRCm39) probably null Het
Crisp1 A T 17: 40,619,867 (GRCm39) probably null Het
Crybg2 T C 4: 133,801,564 (GRCm39) I908T possibly damaging Het
Csn3 T C 5: 88,077,626 (GRCm39) V44A possibly damaging Het
Dipk1c A T 18: 84,748,702 (GRCm39) H100L probably benign Het
Dop1a T A 9: 86,369,474 (GRCm39) D102E probably damaging Het
Etfdh T C 3: 79,525,705 (GRCm39) Y111C probably damaging Het
Fat3 T C 9: 15,910,423 (GRCm39) S1860G probably benign Het
Gba2 G T 4: 43,568,640 (GRCm39) probably benign Het
Ggta1 A G 2: 35,312,249 (GRCm39) I43T possibly damaging Het
Glb1l2 T C 9: 26,682,405 (GRCm39) I149V probably benign Het
Gm5084 T A 13: 60,360,639 (GRCm39) noncoding transcript Het
Gm5591 G T 7: 38,221,560 (GRCm39) P170T probably benign Het
Gucy2d A T 7: 98,107,475 (GRCm39) probably null Het
Itpr3 T C 17: 27,317,397 (GRCm39) F851L probably damaging Het
Kat2b T A 17: 53,970,666 (GRCm39) I684N probably damaging Het
Klra17 C A 6: 129,849,159 (GRCm39) K138N possibly damaging Het
Lrrc4 T A 6: 28,830,769 (GRCm39) H282L possibly damaging Het
Lyst T C 13: 13,931,938 (GRCm39) I3522T probably benign Het
Man2c1 A G 9: 57,044,000 (GRCm39) T312A probably damaging Het
Mapkbp1 A G 2: 119,844,214 (GRCm39) R313G probably damaging Het
N4bp2 G A 5: 65,969,320 (GRCm39) G1361R probably damaging Het
Nbas A T 12: 13,424,712 (GRCm39) I984F probably damaging Het
Ncor1 T A 11: 62,236,063 (GRCm39) Q579L possibly damaging Het
Nme9 A G 9: 99,341,755 (GRCm39) Y35C probably damaging Het
Or5w13 C A 2: 87,523,552 (GRCm39) V225F probably damaging Het
Ormdl1 T C 1: 53,348,093 (GRCm39) V145A probably damaging Het
Paxbp1 C A 16: 90,822,034 (GRCm39) probably null Het
Pcnx1 C A 12: 82,025,863 (GRCm39) S1530* probably null Het
Pogk A G 1: 166,226,733 (GRCm39) W473R probably damaging Het
Pot1b A T 17: 55,976,801 (GRCm39) S374T probably benign Het
Rcn1 A G 2: 105,229,402 (GRCm39) F50S probably damaging Het
Rcvrn T A 11: 67,593,767 (GRCm39) I186N probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ror1 T A 4: 100,298,619 (GRCm39) I664N probably damaging Het
Sall2 G T 14: 52,552,211 (GRCm39) A326E probably damaging Het
Sh2d6 G A 6: 72,496,833 (GRCm39) P66S probably benign Het
Slc6a20b T A 9: 123,427,563 (GRCm39) S449C probably damaging Het
Slc9a3 A T 13: 74,312,406 (GRCm39) N668Y probably damaging Het
Slco1a8 A C 6: 141,918,073 (GRCm39) I601R probably benign Het
Sorcs2 T G 5: 36,200,796 (GRCm39) K584T probably damaging Het
Stam T C 2: 14,079,350 (GRCm39) M8T probably benign Het
Styk1 G A 6: 131,278,676 (GRCm39) P333S probably damaging Het
Sycp1 A G 3: 102,786,116 (GRCm39) C589R possibly damaging Het
Tas2r123 A G 6: 132,824,681 (GRCm39) I193V probably benign Het
Tnks1bp1 C A 2: 84,892,970 (GRCm39) Q304K probably damaging Het
Traf3ip2 T C 10: 39,502,473 (GRCm39) L207P probably damaging Het
Usp49 A G 17: 47,984,146 (GRCm39) S384G possibly damaging Het
Vmn1r87 C A 7: 12,866,253 (GRCm39) M11I probably benign Het
Vmn2r39 A G 7: 9,026,489 (GRCm39) V504A probably benign Het
Wapl G A 14: 34,446,714 (GRCm39) A607T probably damaging Het
Zfp638 A G 6: 83,906,438 (GRCm39) N201S probably benign Het
Other mutations in Vezt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Vezt APN 10 93,832,719 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCCTTTCAACTCTTAAAGCACTTG -3'
(R):5'- GCTTAGTAATGACAGACACGC -3'

Sequencing Primer
(F):5'- ATCATAGGCTAGTATCCTGCAAG -3'
(R):5'- TTAGTAATGACAGACACGCCCTCC -3'
Posted On 2016-06-06