Incidental Mutation 'IGL01632:Antxrl'
| ID |
93487 |
| 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 # |
IGL01632
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
33774625-33798280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33789904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 332
(N332S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058725]
[ENSMUST00000178958]
|
| AlphaFold |
Q8BVM2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058725
AA Change: N332S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000052816
Gene: ENSMUSG00000047441
AA Change: N332S
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,604,928 (GRCm39) |
C1724S |
probably benign |
Het |
| Anapc10 |
T |
C |
8: 80,439,795 (GRCm39) |
M1T |
probably null |
Het |
| Cdkl3 |
A |
G |
11: 51,895,899 (GRCm39) |
R49G |
probably damaging |
Het |
| Chodl |
A |
G |
16: 78,741,452 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
T |
3: 144,733,202 (GRCm39) |
A102D |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,755,559 (GRCm39) |
E1029G |
probably damaging |
Het |
| Cpeb2 |
T |
A |
5: 43,394,765 (GRCm39) |
I581N |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,996,092 (GRCm39) |
V406A |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,924,707 (GRCm39) |
R3960Q |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,615,135 (GRCm39) |
D732G |
probably benign |
Het |
| Fyb2 |
G |
T |
4: 104,853,008 (GRCm39) |
V499L |
probably benign |
Het |
| Gm43191 |
A |
T |
3: 116,445,116 (GRCm39) |
H39Q |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,242,084 (GRCm39) |
K606R |
probably damaging |
Het |
| Klk1b27 |
C |
T |
7: 43,706,097 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,676,672 (GRCm39) |
|
probably benign |
Het |
| Mup14 |
A |
T |
4: 61,259,383 (GRCm39) |
F56L |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,881,874 (GRCm39) |
K39E |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,267,576 (GRCm39) |
N263Y |
probably benign |
Het |
| Or5m12 |
A |
G |
2: 85,734,714 (GRCm39) |
I228T |
probably benign |
Het |
| Ppp1r3a |
T |
A |
6: 14,754,810 (GRCm39) |
I146F |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,609,854 (GRCm39) |
I759T |
probably damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,539,669 (GRCm39) |
I819T |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,925,740 (GRCm39) |
V322A |
probably benign |
Het |
| Spata3 |
T |
C |
1: 85,950,030 (GRCm39) |
V87A |
possibly damaging |
Het |
| Tacstd2 |
A |
G |
6: 67,511,783 (GRCm39) |
V303A |
possibly damaging |
Het |
| Taok3 |
T |
A |
5: 117,403,993 (GRCm39) |
F723I |
possibly damaging |
Het |
| Tektl1 |
T |
C |
10: 78,584,536 (GRCm39) |
S329G |
probably benign |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,366 (GRCm39) |
*307R |
probably null |
Het |
| Vmn2r70 |
T |
C |
7: 85,215,280 (GRCm39) |
I85V |
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,001,724 (GRCm39) |
I123T |
probably damaging |
Het |
|
| Other mutations in Antxrl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01344:Antxrl
|
APN |
14 |
33,797,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2013-12-09 |
Incidental Mutation