Incidental Mutation 'IGL00592:Antxr1'
ID8972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Antxr1
Ensembl Gene ENSMUSG00000033420
Gene Nameanthrax toxin receptor 1
Synonyms2310008J16Rik, Tem8, 2810405N18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00592
Quality Score
Status
Chromosome6
Chromosomal Location87133853-87335821 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 87288802 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 110 (V110F)
Ref Sequence ENSEMBL: ENSMUSP00000145105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042025] [ENSMUST00000204805] [ENSMUST00000205033]
Predicted Effect probably damaging
Transcript: ENSMUST00000042025
AA Change: V110F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045634
Gene: ENSMUSG00000033420
AA Change: V110F

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
VWA 40 218 8.08e-18 SMART
low complexity region 304 313 N/A INTRINSIC
transmembrane domain 319 341 N/A INTRINSIC
low complexity region 351 363 N/A INTRINSIC
Pfam:Ant_C 394 486 5.9e-51 PFAM
low complexity region 501 561 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000203131
AA Change: V33F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203563
Predicted Effect probably damaging
Transcript: ENSMUST00000204805
AA Change: V110F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145105
Gene: ENSMUSG00000033420
AA Change: V110F

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
VWA 40 218 8.08e-18 SMART
low complexity region 304 313 N/A INTRINSIC
transmembrane domain 319 341 N/A INTRINSIC
low complexity region 351 363 N/A INTRINSIC
Pfam:Ant_C 394 482 8.5e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205033
AA Change: V110F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144911
Gene: ENSMUSG00000033420
AA Change: V110F

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
VWA 40 218 5.2e-20 SMART
low complexity region 304 313 N/A INTRINSIC
transmembrane domain 319 341 N/A INTRINSIC
low complexity region 351 363 N/A INTRINSIC
Pfam:Ant_C 394 485 3.9e-42 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null mutation display female infertility and malocclusion of the incisors. Mice homozygous for a different knock-out allele exhibit malocclusion of incisors and increased extracellular matrix deposition in several organs, includingthe ovaries and uterus, but normal fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 A G 3: 138,420,636 I91V probably damaging Het
Ak6 T C 13: 100,664,091 V74A probably benign Het
Anxa1 T C 19: 20,377,669 D247G probably benign Het
Dgkg T C 16: 22,479,362 probably benign Het
Eva1b T C 4: 126,149,650 M161T probably benign Het
Fbxw22 C A 9: 109,384,040 V280F possibly damaging Het
Klhl9 A G 4: 88,721,141 S288P probably damaging Het
Masp2 C T 4: 148,602,729 P23S probably benign Het
Ncam1 T A 9: 49,523,565 D600V probably damaging Het
Pcnx4 A G 12: 72,579,365 N1115S probably damaging Het
Pdia2 A G 17: 26,198,116 V109A probably damaging Het
Pla1a G T 16: 38,414,850 H161N probably damaging Het
Prokr2 A T 2: 132,381,504 D39E probably benign Het
Sall4 T C 2: 168,755,963 D319G probably damaging Het
Sgms2 A G 3: 131,341,833 S131P possibly damaging Het
Slc22a2 A T 17: 12,608,418 Q319L possibly damaging Het
Slc27a5 A G 7: 12,988,639 I636T probably benign Het
Tas2r131 T G 6: 132,957,196 T217P probably damaging Het
Trh T C 6: 92,242,742 M198V possibly damaging Het
Ube2b A C 11: 51,986,719 V141G probably damaging Het
Ube2l6 T A 2: 84,809,029 V112E probably damaging Het
Vmn1r79 T C 7: 12,177,007 I272T probably benign Het
Xylb C T 9: 119,390,483 Q513* probably null Het
Zbtb4 T A 11: 69,776,731 C287* probably null Het
Other mutations in Antxr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02391:Antxr1 APN 6 87287056 missense probably damaging 1.00
IGL02944:Antxr1 APN 6 87188159 missense possibly damaging 0.93
IGL03278:Antxr1 APN 6 87204457 splice site probably benign
slinky UTSW 6 87287000 critical splice donor site probably null
slipnslide UTSW 6 87284309 missense probably damaging 1.00
stubby UTSW 6 87217273 critical splice donor site probably null
E0374:Antxr1 UTSW 6 87255879 missense probably benign 0.03
R0333:Antxr1 UTSW 6 87188838 splice site probably benign
R0456:Antxr1 UTSW 6 87217275 missense probably damaging 1.00
R0482:Antxr1 UTSW 6 87269238 splice site probably null
R4612:Antxr1 UTSW 6 87288173 missense probably damaging 1.00
R5269:Antxr1 UTSW 6 87180183 missense probably damaging 1.00
R5610:Antxr1 UTSW 6 87255863 missense probably damaging 1.00
R5671:Antxr1 UTSW 6 87217273 critical splice donor site probably null
R5893:Antxr1 UTSW 6 87137259 missense probably benign 0.00
R5925:Antxr1 UTSW 6 87312362 missense probably damaging 1.00
R6038:Antxr1 UTSW 6 87287000 critical splice donor site probably null
R6038:Antxr1 UTSW 6 87287000 critical splice donor site probably null
R6658:Antxr1 UTSW 6 87284309 missense probably damaging 1.00
R7634:Antxr1 UTSW 6 87137291 missense probably benign 0.20
Posted On2012-12-06