Incidental Mutation 'IGL03278:Antxr1'
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ID415511
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 #IGL03278
Quality Score
Status
Chromosome6
Chromosomal Location87133853-87335821 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 87204457 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042025] [ENSMUST00000204805] [ENSMUST00000205033]
Predicted Effect probably benign
Transcript: ENSMUST00000042025
SMART Domains Protein: ENSMUSP00000045634
Gene: ENSMUSG00000033420

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 benign
Transcript: ENSMUST00000203131
Predicted Effect probably benign
Transcript: ENSMUST00000204805
SMART Domains Protein: ENSMUSP00000145105
Gene: ENSMUSG00000033420

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 benign
Transcript: ENSMUST00000205033
SMART Domains Protein: ENSMUSP00000144911
Gene: ENSMUSG00000033420

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205089
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,158,825 probably benign Het
Acss2 A G 2: 155,562,001 D676G possibly damaging Het
Ccdc134 C T 15: 82,131,481 A54V possibly damaging Het
Ccdc40 A T 11: 119,242,510 I465F probably damaging Het
Cdk5rap1 A T 2: 154,370,702 S79T probably benign Het
Col6a6 T C 9: 105,709,452 E1790G probably benign Het
Cops8 C A 1: 90,604,365 probably null Het
Dnah7a T C 1: 53,496,965 T2640A probably benign Het
F2 G A 2: 91,635,182 A86V probably benign Het
Fam160a2 C A 7: 105,385,124 M433I possibly damaging Het
Gabrb1 T G 5: 71,869,596 D113E probably damaging Het
Git2 C A 5: 114,745,579 probably benign Het
Git2 A T 5: 114,745,580 probably null Het
Gm4847 A T 1: 166,635,036 I295N probably benign Het
H2-M10.6 C A 17: 36,813,823 H211N probably damaging Het
Hmgcr A G 13: 96,656,762 probably benign Het
Larp1 T C 11: 58,044,056 probably benign Het
Lrguk A G 6: 34,116,446 E634G possibly damaging Het
Nanog A G 6: 122,711,745 Y95C probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nfe2l1 C A 11: 96,822,192 R55L probably benign Het
Olfr161 C T 16: 3,593,107 A237V possibly damaging Het
Pkmyt1 A G 17: 23,734,247 E259G probably damaging Het
Pld4 A G 12: 112,766,731 N247S probably damaging Het
Prdm4 A T 10: 85,907,758 M211K probably damaging Het
Rab37 A C 11: 115,159,691 I121L possibly damaging Het
Rabl6 T C 2: 25,583,822 probably benign Het
Slc34a3 A T 2: 25,232,047 V154E probably benign Het
Slc38a9 T G 13: 112,689,518 probably benign Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stk24 T C 14: 121,302,770 K139R possibly damaging Het
Tacc2 T C 7: 130,733,568 probably null Het
Tap1 A T 17: 34,191,483 K378M probably damaging Het
Tfr2 A T 5: 137,571,036 R10* probably null Het
Trim38 A G 13: 23,790,996 D306G possibly damaging Het
Ttc6 A T 12: 57,622,026 K418I probably damaging Het
Ush2a T A 1: 188,849,116 L3731Q probably damaging Het
Vmn2r89 A T 14: 51,455,100 Y120F probably damaging Het
Vps35 A T 8: 85,294,961 probably benign Het
Other mutations in Antxr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Antxr1 APN 6 87288802 missense probably damaging 1.00
IGL02391:Antxr1 APN 6 87287056 missense probably damaging 1.00
IGL02944:Antxr1 APN 6 87188159 missense possibly damaging 0.93
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
R8756:Antxr1 UTSW 6 87188253 missense probably damaging 1.00
Posted On2016-08-02