Incidental Mutation 'IGL01344:Antxrl'
| ID |
74981 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Antxrl
|
| Ensembl Gene |
ENSMUSG00000047441 |
| Gene Name |
anthrax toxin receptor-like |
| Synonyms |
1700112N15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01344
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
33774625-33798280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 33797554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 510
(M510L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058725]
[ENSMUST00000178958]
|
| AlphaFold |
Q8BVM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058725
AA Change: M510L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000052816
Gene: ENSMUSG00000047441
AA Change: M510L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
VWA
|
74 |
248 |
2.9e-19 |
SMART |
|
Pfam:Anth_Ig
|
249 |
351 |
6.7e-41 |
PFAM |
|
low complexity region
|
370 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215823
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930518I15Rik |
A |
G |
2: 156,699,020 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,923,139 (GRCm39) |
K237R |
possibly damaging |
Het |
| Bdp1 |
T |
C |
13: 100,214,588 (GRCm39) |
D417G |
probably benign |
Het |
| C3 |
T |
G |
17: 57,531,880 (GRCm39) |
N250T |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,575,629 (GRCm39) |
I1073K |
probably benign |
Het |
| Ccin |
A |
T |
4: 43,984,069 (GRCm39) |
N159Y |
probably damaging |
Het |
| Cep76 |
T |
C |
18: 67,756,467 (GRCm39) |
T455A |
possibly damaging |
Het |
| Chaf1a |
T |
A |
17: 56,371,104 (GRCm39) |
V663E |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,079,052 (GRCm39) |
F454S |
probably damaging |
Het |
| Cimip2a |
A |
T |
2: 25,110,345 (GRCm39) |
I86F |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,642,360 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
G |
T |
2: 172,936,527 (GRCm39) |
A615E |
possibly damaging |
Het |
| Edaradd |
T |
C |
13: 12,493,371 (GRCm39) |
D107G |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,330,688 (GRCm39) |
|
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,136,169 (GRCm39) |
|
probably null |
Het |
| Fahd2a |
T |
C |
2: 127,283,987 (GRCm39) |
K18E |
probably benign |
Het |
| Fbxl20 |
A |
T |
11: 97,990,926 (GRCm39) |
C147* |
probably null |
Het |
| Gsap |
G |
T |
5: 21,447,881 (GRCm39) |
|
probably null |
Het |
| Gtse1 |
A |
T |
15: 85,746,267 (GRCm39) |
|
probably null |
Het |
| Kcp |
A |
T |
6: 29,498,950 (GRCm39) |
|
probably null |
Het |
| Llgl2 |
A |
G |
11: 115,742,019 (GRCm39) |
D687G |
probably benign |
Het |
| Mcpt8 |
T |
A |
14: 56,321,402 (GRCm39) |
I21F |
probably damaging |
Het |
| Met |
C |
A |
6: 17,547,031 (GRCm39) |
S888Y |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,900,503 (GRCm39) |
T663A |
probably damaging |
Het |
| Ngf |
A |
G |
3: 102,427,628 (GRCm39) |
T130A |
probably benign |
Het |
| Otud7b |
T |
A |
3: 96,058,297 (GRCm39) |
|
probably benign |
Het |
| Preb |
C |
T |
5: 31,113,388 (GRCm39) |
V349M |
probably damaging |
Het |
| Prmt1 |
G |
T |
7: 44,627,059 (GRCm39) |
|
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,294,342 (GRCm39) |
D355G |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,393,737 (GRCm39) |
D1209V |
probably damaging |
Het |
| Rigi |
G |
A |
4: 40,208,883 (GRCm39) |
T698I |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,080,958 (GRCm39) |
N925S |
probably benign |
Het |
| Skint3 |
T |
A |
4: 112,147,519 (GRCm39) |
M414K |
possibly damaging |
Het |
| Skor1 |
A |
T |
9: 63,049,560 (GRCm39) |
S787R |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,940,856 (GRCm39) |
I288N |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,790,059 (GRCm39) |
|
probably benign |
Het |
| Tpp2 |
C |
T |
1: 44,022,422 (GRCm39) |
T940I |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,972,739 (GRCm39) |
I278N |
probably damaging |
Het |
| Umodl1 |
G |
A |
17: 31,215,238 (GRCm39) |
V1021I |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,236,582 (GRCm39) |
S1059P |
possibly damaging |
Het |
|
| Other mutations in Antxrl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01632:Antxrl
|
APN |
14 |
33,789,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02379:Antxrl
|
APN |
14 |
33,778,492 (GRCm39) |
splice site |
probably null |
|
|
IGL02381:Antxrl
|
APN |
14 |
33,778,568 (GRCm39) |
splice site |
probably null |
|
|
IGL02736:Antxrl
|
APN |
14 |
33,778,575 (GRCm39) |
unclassified |
probably benign |
|
|
R0631:Antxrl
|
UTSW |
14 |
33,780,758 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1190:Antxrl
|
UTSW |
14 |
33,791,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1406:Antxrl
|
UTSW |
14 |
33,794,999 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1406:Antxrl
|
UTSW |
14 |
33,794,999 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1454:Antxrl
|
UTSW |
14 |
33,782,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1469:Antxrl
|
UTSW |
14 |
33,789,388 (GRCm39) |
intron |
probably benign |
|
|
R1638:Antxrl
|
UTSW |
14 |
33,792,453 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1996:Antxrl
|
UTSW |
14 |
33,797,786 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2174:Antxrl
|
UTSW |
14 |
33,782,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2421:Antxrl
|
UTSW |
14 |
33,793,646 (GRCm39) |
intron |
probably benign |
|
|
R3850:Antxrl
|
UTSW |
14 |
33,789,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4178:Antxrl
|
UTSW |
14 |
33,776,928 (GRCm39) |
splice site |
probably null |
|
|
R4434:Antxrl
|
UTSW |
14 |
33,793,574 (GRCm39) |
intron |
probably benign |
|
|
R4603:Antxrl
|
UTSW |
14 |
33,797,792 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4769:Antxrl
|
UTSW |
14 |
33,795,027 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6003:Antxrl
|
UTSW |
14 |
33,797,592 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6047:Antxrl
|
UTSW |
14 |
33,775,433 (GRCm39) |
intron |
probably benign |
|
|
R6228:Antxrl
|
UTSW |
14 |
33,778,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6363:Antxrl
|
UTSW |
14 |
33,791,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Antxrl
|
UTSW |
14 |
33,782,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6800:Antxrl
|
UTSW |
14 |
33,787,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6933:Antxrl
|
UTSW |
14 |
33,797,728 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7086:Antxrl
|
UTSW |
14 |
33,787,873 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7257:Antxrl
|
UTSW |
14 |
33,787,806 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7315:Antxrl
|
UTSW |
14 |
33,793,504 (GRCm39) |
missense |
unknown |
|
|
R7981:Antxrl
|
UTSW |
14 |
33,787,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9070:Antxrl
|
UTSW |
14 |
33,793,671 (GRCm39) |
nonsense |
probably null |
|
|
R9097:Antxrl
|
UTSW |
14 |
33,793,660 (GRCm39) |
missense |
probably benign |
0.33 |
|
X0028:Antxrl
|
UTSW |
14 |
33,775,872 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1088:Antxrl
|
UTSW |
14 |
33,789,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Antxrl
|
UTSW |
14 |
33,789,887 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation