Incidental Mutation 'IGL01532:Arel1'
| ID |
89794 |
| 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: 0.715)
|
| Stock # |
IGL01532
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
84964922-85017674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84980936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 357
(V357A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043169]
[ENSMUST00000163231]
[ENSMUST00000163372]
|
| AlphaFold |
Q8CHG5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043169
AA Change: V357A
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: V357A
| 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 |
possibly damaging
Transcript: ENSMUST00000163231
AA Change: V357A
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: V357A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163372
|
| SMART Domains |
Protein: ENSMUSP00000130259
Gene: ENSMUSG00000042350
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
Blast:IG_FLMN
|
56 |
81 |
7e-13 |
BLAST |
|
SCOP:d1qfha1
|
56 |
81 |
4e-6 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
C |
A |
7: 66,558,349 (GRCm39) |
N264K |
probably damaging |
Het |
| Adgrl3 |
C |
T |
5: 81,842,416 (GRCm39) |
T260I |
probably damaging |
Het |
| Ambra1 |
G |
T |
2: 91,715,977 (GRCm39) |
K769N |
probably damaging |
Het |
| Atp11b |
T |
A |
3: 35,903,651 (GRCm39) |
C76* |
probably null |
Het |
| AW112010 |
C |
A |
19: 11,025,433 (GRCm39) |
|
noncoding transcript |
Het |
| Bfar |
A |
T |
16: 13,505,251 (GRCm39) |
|
probably benign |
Het |
| Ccdc70 |
T |
G |
8: 22,463,299 (GRCm39) |
L30V |
probably damaging |
Het |
| Cep20 |
A |
G |
16: 14,122,375 (GRCm39) |
S130P |
probably benign |
Het |
| Chrm5 |
C |
T |
2: 112,309,577 (GRCm39) |
R513Q |
probably benign |
Het |
| Crem |
G |
A |
18: 3,276,732 (GRCm39) |
T7I |
probably benign |
Het |
| Cyp4f39 |
C |
T |
17: 32,689,928 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,208,660 (GRCm39) |
T849A |
probably benign |
Het |
| Dock8 |
G |
T |
19: 25,146,805 (GRCm39) |
G1428V |
probably damaging |
Het |
| Eomes |
T |
C |
9: 118,311,317 (GRCm39) |
I380T |
probably damaging |
Het |
| Fam13a |
T |
C |
6: 58,917,280 (GRCm39) |
D532G |
probably damaging |
Het |
| Gm10061 |
G |
T |
16: 88,948,190 (GRCm39) |
*55L |
probably null |
Het |
| Gm27438 |
T |
G |
2: 87,083,269 (GRCm39) |
|
probably benign |
Het |
| Gpalpp1 |
T |
C |
14: 76,339,942 (GRCm39) |
K124E |
probably benign |
Het |
| Hgs |
T |
A |
11: 120,368,335 (GRCm39) |
|
probably null |
Het |
| Hpn |
T |
A |
7: 30,802,938 (GRCm39) |
M121L |
possibly damaging |
Het |
| Il1r1 |
T |
C |
1: 40,334,088 (GRCm39) |
|
probably null |
Het |
| Jag2 |
A |
T |
12: 112,877,983 (GRCm39) |
C583S |
probably damaging |
Het |
| Katnal2 |
T |
C |
18: 77,099,696 (GRCm39) |
H146R |
probably benign |
Het |
| Ldah |
T |
C |
12: 8,270,596 (GRCm39) |
|
probably benign |
Het |
| Lvrn |
T |
A |
18: 47,033,551 (GRCm39) |
Y921N |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,423,743 (GRCm39) |
Y4572C |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,450,551 (GRCm39) |
S518G |
probably benign |
Het |
| Ncf1 |
T |
C |
5: 134,255,447 (GRCm39) |
N148S |
probably benign |
Het |
| Nes |
T |
G |
3: 87,885,654 (GRCm39) |
D1260E |
possibly damaging |
Het |
| Nup210 |
C |
A |
6: 91,062,981 (GRCm39) |
|
probably benign |
Het |
| Or52b4i |
T |
C |
7: 102,191,863 (GRCm39) |
L240P |
probably damaging |
Het |
| Rnf31 |
C |
A |
14: 55,840,080 (GRCm39) |
Q968K |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,967,034 (GRCm39) |
|
probably benign |
Het |
| Ryk |
T |
C |
9: 102,774,465 (GRCm39) |
Y400H |
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,250,022 (GRCm39) |
|
probably null |
Het |
| Sptssb |
A |
G |
3: 69,728,202 (GRCm39) |
|
probably benign |
Het |
| Sstr5 |
T |
C |
17: 25,710,305 (GRCm39) |
D308G |
probably damaging |
Het |
| Taf2 |
A |
G |
15: 54,912,882 (GRCm39) |
W493R |
possibly damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,489,463 (GRCm39) |
I459L |
probably benign |
Het |
| Vti1b |
A |
C |
12: 79,211,912 (GRCm39) |
L1W |
probably null |
Het |
| Wdr1 |
T |
C |
5: 38,692,530 (GRCm39) |
Y125C |
probably damaging |
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 |
|
IGL01640:Arel1
|
APN |
12 |
84,967,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02522:Arel1
|
APN |
12 |
84,974,684 (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 |
2013-12-03 |
Incidental Mutation