Incidental Mutation 'IGL02381:Antxrl'
| ID |
291397 |
| 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 # |
IGL02381
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
33774625-33798280 bp(+) (GRCm39) |
| Type of Mutation |
splice site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 33778568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058725]
[ENSMUST00000178958]
[ENSMUST00000226211]
[ENSMUST00000227979]
|
| AlphaFold |
Q8BVM2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000058725
|
| SMART Domains |
Protein: ENSMUSP00000052816
Gene: ENSMUSG00000047441
| 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
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226211
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227979
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,904,413 (GRCm39) |
I126F |
probably damaging |
Het |
| Arsa |
A |
T |
15: 89,359,740 (GRCm39) |
Y62* |
probably null |
Het |
| Atg2b |
C |
A |
12: 105,614,607 (GRCm39) |
C1108F |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,863,338 (GRCm39) |
Q651R |
probably benign |
Het |
| Atxn7l2 |
A |
G |
3: 108,111,811 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
A |
G |
X: 7,482,307 (GRCm39) |
D597G |
probably damaging |
Het |
| Capn12 |
T |
C |
7: 28,585,880 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
A |
T |
6: 76,931,766 (GRCm39) |
D624E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,337,118 (GRCm39) |
E3274G |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,316,280 (GRCm39) |
N3131I |
probably damaging |
Het |
| Fam3a |
C |
T |
X: 73,430,690 (GRCm39) |
G112E |
probably damaging |
Het |
| Focad |
T |
G |
4: 88,192,327 (GRCm39) |
|
probably benign |
Het |
| Fyb2 |
G |
A |
4: 104,805,863 (GRCm39) |
|
probably benign |
Het |
| Htt |
C |
T |
5: 34,987,104 (GRCm39) |
P1108S |
probably benign |
Het |
| Ift80 |
A |
T |
3: 68,869,653 (GRCm39) |
|
probably null |
Het |
| Insc |
T |
C |
7: 114,449,177 (GRCm39) |
*533Q |
probably null |
Het |
| Itga2 |
A |
G |
13: 114,993,258 (GRCm39) |
C786R |
probably damaging |
Het |
| Lman2 |
A |
G |
13: 55,499,282 (GRCm39) |
W198R |
possibly damaging |
Het |
| Med23 |
A |
G |
10: 24,776,626 (GRCm39) |
T713A |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,536,156 (GRCm39) |
M520K |
probably benign |
Het |
| Mvd |
C |
A |
8: 123,163,894 (GRCm39) |
G252V |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,894,737 (GRCm39) |
V340E |
probably damaging |
Het |
| Necab1 |
A |
G |
4: 15,148,812 (GRCm39) |
|
probably null |
Het |
| Noxred1 |
T |
C |
12: 87,271,776 (GRCm39) |
D131G |
probably damaging |
Het |
| P2ry4 |
C |
A |
X: 99,637,807 (GRCm39) |
K30N |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,277,320 (GRCm39) |
V100D |
possibly damaging |
Het |
| Piezo1 |
C |
A |
8: 123,225,283 (GRCm39) |
R571L |
probably benign |
Het |
| Pkd1l2 |
C |
T |
8: 117,762,539 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,370,034 (GRCm39) |
T32A |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,697,342 (GRCm39) |
V613A |
possibly damaging |
Het |
| Rp1 |
A |
G |
1: 4,422,613 (GRCm39) |
S156P |
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,569,594 (GRCm39) |
D48E |
probably damaging |
Het |
| Shisal1 |
A |
G |
15: 84,290,654 (GRCm39) |
S218P |
probably damaging |
Het |
| Slc29a4 |
T |
C |
5: 142,705,854 (GRCm39) |
V446A |
probably benign |
Het |
| Sppl3 |
C |
T |
5: 115,212,969 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,599,982 (GRCm39) |
E19064G |
probably damaging |
Het |
| Vps35l |
A |
G |
7: 118,374,598 (GRCm39) |
Y342C |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation