Incidental Mutation 'E0374:Antxr1'
| ID |
233312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Antxr1
|
| Ensembl Gene |
ENSMUSG00000033420 |
| Gene Name |
anthrax toxin receptor 1 |
| Synonyms |
2810405N18Rik, Tem8, 2310008J16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
E0374 (G1)
|
| Quality Score |
218 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
87110835-87312757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87232861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 234
(S234P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042025]
[ENSMUST00000204805]
[ENSMUST00000205033]
|
| AlphaFold |
Q9CZ52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042025
AA Change: S234P
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000045634
Gene: ENSMUSG00000033420
AA Change: S234P
| 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 benign
Transcript: ENSMUST00000203131
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203298
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204805
AA Change: S234P
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000145105
Gene: ENSMUSG00000033420
AA Change: S234P
| 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 benign
Transcript: ENSMUST00000205033
AA Change: S234P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000144911
Gene: ENSMUSG00000033420
AA Change: S234P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205089
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbox1 |
A |
G |
2: 110,098,656 (GRCm39) |
V307A |
probably damaging |
Het |
| Ccr6 |
T |
C |
17: 8,475,284 (GRCm39) |
V163A |
probably damaging |
Het |
| Cdkn3 |
C |
A |
14: 47,004,630 (GRCm39) |
|
probably null |
Het |
| Chst13 |
C |
A |
6: 90,286,174 (GRCm39) |
E263* |
probably null |
Het |
| Dctn1 |
T |
A |
6: 83,171,156 (GRCm39) |
C754S |
possibly damaging |
Het |
| Dlgap4 |
T |
G |
2: 156,603,763 (GRCm39) |
I185S |
probably damaging |
Het |
| Heca |
T |
A |
10: 17,783,924 (GRCm39) |
H443L |
probably damaging |
Het |
| Klkb1 |
C |
T |
8: 45,742,128 (GRCm39) |
M50I |
possibly damaging |
Het |
| Lamb1 |
A |
G |
12: 31,337,929 (GRCm39) |
Y414C |
probably damaging |
Het |
| Maff |
C |
A |
15: 79,241,875 (GRCm39) |
N97K |
probably damaging |
Het |
| Map1s |
T |
A |
8: 71,358,661 (GRCm39) |
|
probably benign |
Het |
| Mfsd10 |
A |
T |
5: 34,793,981 (GRCm39) |
|
probably null |
Het |
| Nfam1 |
T |
G |
15: 82,900,611 (GRCm39) |
I124L |
probably benign |
Het |
| Omg |
T |
G |
11: 79,393,775 (GRCm39) |
I28L |
probably benign |
Het |
| Pfkm |
A |
T |
15: 98,021,114 (GRCm39) |
I311F |
probably damaging |
Het |
| Sap30 |
T |
A |
8: 57,938,095 (GRCm39) |
N174I |
probably damaging |
Het |
| Sdc1 |
T |
A |
12: 8,839,424 (GRCm39) |
N28K |
probably damaging |
Het |
| Trabd2b |
T |
G |
4: 114,457,094 (GRCm39) |
V337G |
probably damaging |
Het |
|
| Other mutations in Antxr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Antxr1
|
APN |
6 |
87,265,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02391:Antxr1
|
APN |
6 |
87,264,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02944:Antxr1
|
APN |
6 |
87,165,141 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03278:Antxr1
|
APN |
6 |
87,181,439 (GRCm39) |
splice site |
probably benign |
|
|
slinky
|
UTSW |
6 |
87,263,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
slipnslide
|
UTSW |
6 |
87,261,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stubby
|
UTSW |
6 |
87,194,255 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0333:Antxr1
|
UTSW |
6 |
87,165,820 (GRCm39) |
splice site |
probably benign |
|
|
R0456:Antxr1
|
UTSW |
6 |
87,194,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Antxr1
|
UTSW |
6 |
87,246,220 (GRCm39) |
splice site |
probably null |
|
|
R4612:Antxr1
|
UTSW |
6 |
87,265,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5269:Antxr1
|
UTSW |
6 |
87,157,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5610:Antxr1
|
UTSW |
6 |
87,232,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5671:Antxr1
|
UTSW |
6 |
87,194,255 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5893:Antxr1
|
UTSW |
6 |
87,114,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5925:Antxr1
|
UTSW |
6 |
87,289,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6038:Antxr1
|
UTSW |
6 |
87,263,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6038:Antxr1
|
UTSW |
6 |
87,263,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6658:Antxr1
|
UTSW |
6 |
87,261,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7634:Antxr1
|
UTSW |
6 |
87,114,273 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8103:Antxr1
|
UTSW |
6 |
87,165,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8506:Antxr1
|
UTSW |
6 |
87,165,155 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8756:Antxr1
|
UTSW |
6 |
87,165,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:Antxr1
|
UTSW |
6 |
87,264,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9296:Antxr1
|
UTSW |
6 |
87,114,409 (GRCm39) |
intron |
probably benign |
|
|
R9688:Antxr1
|
UTSW |
6 |
87,114,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9756:Antxr1
|
UTSW |
6 |
87,217,936 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGAACAGGTCTCTGAAGG -3'
(R):5'- TAGGGACGCTCAGTGAGTAG -3'
Sequencing Primer
(F):5'- TCTCTGAAGGCCCCTGTAAGAG -3'
(R):5'- TGAGTAGAAGAAACCTCCGTGTCC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation