Incidental Mutation 'IGL02391:Antxr1'
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ID293843
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 #IGL02391
Quality Score
Status
Chromosome6
Chromosomal Location87133853-87335821 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 87287056 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 144 (I144N)
Ref Sequence ENSEMBL: ENSMUSP00000144911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042025] [ENSMUST00000204805] [ENSMUST00000205033]
Predicted Effect probably damaging
Transcript: ENSMUST00000042025
AA Change: I144N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045634
Gene: ENSMUSG00000033420
AA Change: I144N

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 probably damaging
Transcript: ENSMUST00000203131
AA Change: I67N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203563
Predicted Effect probably damaging
Transcript: ENSMUST00000204805
AA Change: I144N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145105
Gene: ENSMUSG00000033420
AA Change: I144N

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: I144N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144911
Gene: ENSMUSG00000033420
AA Change: I144N

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,553,352 N748Y probably damaging Het
Actbl2 A G 13: 111,255,167 D12G possibly damaging Het
Adamts10 T C 17: 33,528,811 S74P probably benign Het
Adprhl2 C T 4: 126,317,908 probably benign Het
Amn1 A G 6: 149,169,446 probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cabp5 A T 7: 13,398,344 R13* probably null Het
Cacna1e A G 1: 154,421,113 Y1669H probably damaging Het
Ccdc174 A G 6: 91,898,282 E364G possibly damaging Het
Ccdc18 C T 5: 108,136,052 P74S probably damaging Het
Clec3a C T 8: 114,425,500 S82L probably benign Het
Cnih3 A G 1: 181,406,513 D43G probably damaging Het
Dpp10 G A 1: 123,650,358 T128M probably damaging Het
Edar A T 10: 58,628,581 F79I probably damaging Het
Eif2ak4 T A 2: 118,420,791 H199Q probably benign Het
Fermt1 A G 2: 132,941,951 L46P probably damaging Het
Glipr1 A G 10: 111,988,894 probably benign Het
Gsdmc T C 15: 63,803,579 N129S probably damaging Het
Ift88 T C 14: 57,481,414 S619P possibly damaging Het
Itga9 T A 9: 118,850,805 V262E probably benign Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mta1 T A 12: 113,136,583 I688N possibly damaging Het
Muc4 A T 16: 32,752,076 R651S probably benign Het
Olfr109 C T 17: 37,466,586 P127S probably damaging Het
Olfr1342 A G 4: 118,690,341 L37P probably damaging Het
Olfr824 A G 10: 130,126,904 V51A possibly damaging Het
Opcml A G 9: 28,675,264 I93V probably damaging Het
Parg T G 14: 32,262,681 probably null Het
Rps3a3 A G 13: 108,670,883 probably benign Het
Safb T A 17: 56,600,813 probably benign Het
Sat2 G T 11: 69,622,749 C54F probably damaging Het
Scin T A 12: 40,077,531 Y420F probably benign Het
Slc22a29 A T 19: 8,169,353 S362T probably benign Het
Smchd1 T C 17: 71,431,259 D537G probably null Het
Spred3 A G 7: 29,166,405 S126P probably benign Het
Ssh1 C T 5: 113,942,517 E951K probably damaging Het
Ssmem1 A G 6: 30,512,442 E28G possibly damaging Het
Stox1 A T 10: 62,659,676 probably benign Het
Syn3 T C 10: 86,064,906 I373V probably benign Het
Tecrl A T 5: 83,354,827 F58L probably benign Het
Trp53bp1 T C 2: 121,202,710 N1655S possibly damaging Het
Usp2 G T 9: 44,091,227 Q147H probably damaging Het
Usp24 T A 4: 106,407,129 N1751K possibly damaging Het
Wipf1 T A 2: 73,434,143 D438V probably damaging Het
Other mutations in Antxr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Antxr1 APN 6 87288802 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
R8103:Antxr1 UTSW 6 87188216 missense probably damaging 1.00
R8506:Antxr1 UTSW 6 87188173 missense possibly damaging 0.77
Posted On2015-04-16