Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02391:Antxr1'

293843

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Antxr1

Ensembl Gene

ENSMUSG00000033420

Gene Name

anthrax toxin receptor 1

Synonyms

2310008J16Rik, Tem8, 2810405N18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02391

Quality Score

Status

Chromosome

Chromosomal Location

87133853-87335821 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87287056 bp (GRCm38)

Zygosity

Heterozygous

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]

AlphaFold

Q9CZ52

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8756:Antxr1	UTSW	6	87188253	missense	probably damaging	1.00
R9183:Antxr1	UTSW	6	87287043	missense	probably damaging	1.00
R9296:Antxr1	UTSW	6	87137427	intron	probably benign
R9688:Antxr1	UTSW	6	87137352	missense	probably damaging	1.00
R9756:Antxr1	UTSW	6	87240954	missense	probably benign	0.16

Posted On

2015-04-16