Incidental Mutation 'IGL02522:Arel1'
| ID |
296920 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arel1
|
| Ensembl Gene |
ENSMUSG00000042350 |
| Gene Name |
apoptosis resistant E3 ubiquitin protein ligase 1 |
| Synonyms |
1110018G07Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
IGL02522
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
84964922-85017674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84974684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 486
(D486G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043169]
[ENSMUST00000163231]
|
| AlphaFold |
Q8CHG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043169
AA Change: D486G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: D486G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
19 |
N/A |
INTRINSIC |
|
IG_FLMN
|
56 |
160 |
4.53e-2 |
SMART |
|
low complexity region
|
346 |
360 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
401 |
474 |
6e-39 |
BLAST |
|
HECTc
|
481 |
823 |
1.04e-158 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116345
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163231
AA Change: D486G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: D486G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
19 |
N/A |
INTRINSIC |
|
IG_FLMN
|
56 |
160 |
4.53e-2 |
SMART |
|
low complexity region
|
346 |
360 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
386 |
474 |
1e-51 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
G |
10: 78,903,633 (GRCm39) |
S228P |
probably benign |
Het |
| Apba1 |
T |
C |
19: 23,889,809 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,839,646 (GRCm39) |
V357A |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,807,716 (GRCm39) |
S1833G |
probably benign |
Het |
| Ctsa |
T |
C |
2: 164,681,061 (GRCm39) |
|
probably benign |
Het |
| Dclk2 |
G |
A |
3: 86,827,423 (GRCm39) |
P19S |
probably benign |
Het |
| Dpp10 |
T |
C |
1: 123,351,381 (GRCm39) |
H308R |
probably benign |
Het |
| Dst |
A |
T |
1: 34,289,781 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,762,336 (GRCm39) |
M201K |
probably damaging |
Het |
| Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
| Grip1 |
A |
G |
10: 119,767,154 (GRCm39) |
D93G |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,301,676 (GRCm39) |
K172R |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,148,746 (GRCm39) |
S386P |
possibly damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,015,705 (GRCm39) |
N29S |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,809,290 (GRCm39) |
V320A |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,655,617 (GRCm39) |
D1127G |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,419,298 (GRCm39) |
D2921V |
possibly damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,259,013 (GRCm39) |
Y1125F |
probably benign |
Het |
| Psg20 |
T |
A |
7: 18,416,356 (GRCm39) |
L253F |
probably benign |
Het |
| Rdx |
A |
G |
9: 51,979,504 (GRCm39) |
K209R |
possibly damaging |
Het |
| Rpsa |
A |
T |
9: 119,960,121 (GRCm39) |
Q228L |
possibly damaging |
Het |
| Slc10a5 |
T |
C |
3: 10,400,181 (GRCm39) |
I160V |
probably benign |
Het |
| Tec |
C |
T |
5: 72,946,515 (GRCm39) |
V71I |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,540,612 (GRCm39) |
E1463G |
probably benign |
Het |
| Trim12a |
C |
T |
7: 103,950,038 (GRCm39) |
|
probably null |
Het |
| Vcan |
G |
T |
13: 89,852,968 (GRCm39) |
T664K |
probably benign |
Het |
|
| Other mutations in Arel1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Arel1
|
APN |
12 |
84,980,936 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01532:Arel1
|
APN |
12 |
84,980,936 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01640:Arel1
|
APN |
12 |
84,967,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02675:Arel1
|
APN |
12 |
84,977,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02867:Arel1
|
APN |
12 |
84,981,097 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03231:Arel1
|
APN |
12 |
84,981,084 (GRCm39) |
missense |
probably benign |
|
|
R0244:Arel1
|
UTSW |
12 |
84,967,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0363:Arel1
|
UTSW |
12 |
84,981,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Arel1
|
UTSW |
12 |
84,988,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Arel1
|
UTSW |
12 |
84,973,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Arel1
|
UTSW |
12 |
84,987,173 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2161:Arel1
|
UTSW |
12 |
84,968,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4691:Arel1
|
UTSW |
12 |
84,977,023 (GRCm39) |
splice site |
probably null |
|
|
R4958:Arel1
|
UTSW |
12 |
84,973,078 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4999:Arel1
|
UTSW |
12 |
84,978,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5088:Arel1
|
UTSW |
12 |
84,970,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5154:Arel1
|
UTSW |
12 |
84,978,547 (GRCm39) |
missense |
probably benign |
|
|
R5939:Arel1
|
UTSW |
12 |
84,973,066 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5945:Arel1
|
UTSW |
12 |
84,973,121 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6118:Arel1
|
UTSW |
12 |
84,988,713 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6421:Arel1
|
UTSW |
12 |
84,981,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:Arel1
|
UTSW |
12 |
84,987,159 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7290:Arel1
|
UTSW |
12 |
84,988,719 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7490:Arel1
|
UTSW |
12 |
84,988,685 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7732:Arel1
|
UTSW |
12 |
84,974,663 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7743:Arel1
|
UTSW |
12 |
84,987,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Arel1
|
UTSW |
12 |
84,981,732 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8083:Arel1
|
UTSW |
12 |
84,987,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8899:Arel1
|
UTSW |
12 |
84,981,017 (GRCm39) |
missense |
probably benign |
|
|
R9344:Arel1
|
UTSW |
12 |
84,981,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0066:Arel1
|
UTSW |
12 |
84,990,103 (GRCm39) |
splice site |
probably null |
|
|
X0066:Arel1
|
UTSW |
12 |
84,981,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation