Incidental Mutation 'IGL00928:Arel1'
| ID |
28733 |
| 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 # |
IGL00928
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
84964922-85017674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84980936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 357
(V357E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043169]
[ENSMUST00000163231]
[ENSMUST00000163372]
|
| AlphaFold |
Q8CHG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043169
AA Change: V357E
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: V357E
| 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 |
probably damaging
Transcript: ENSMUST00000163231
AA Change: V357E
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: V357E
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,217,720 (GRCm39) |
|
probably benign |
Het |
| Ablim3 |
T |
C |
18: 61,982,477 (GRCm39) |
E156G |
possibly damaging |
Het |
| Adgrb2 |
A |
G |
4: 129,886,096 (GRCm39) |
T79A |
probably benign |
Het |
| Asph |
T |
C |
4: 9,594,675 (GRCm39) |
I241V |
probably benign |
Het |
| B3galt2 |
A |
G |
1: 143,522,893 (GRCm39) |
Y343C |
probably damaging |
Het |
| Brf1 |
A |
G |
12: 112,927,220 (GRCm39) |
|
probably benign |
Het |
| Col3a1 |
A |
G |
1: 45,380,018 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
A |
C |
1: 67,162,393 (GRCm39) |
T24P |
probably benign |
Het |
| Cyp3a25 |
A |
G |
5: 145,923,764 (GRCm39) |
L293P |
possibly damaging |
Het |
| Engase |
C |
A |
11: 118,373,796 (GRCm39) |
R313S |
possibly damaging |
Het |
| Espn |
A |
G |
4: 152,220,059 (GRCm39) |
S28P |
probably damaging |
Het |
| Gnas |
T |
A |
2: 174,139,746 (GRCm39) |
L31* |
probably null |
Het |
| Gorasp2 |
A |
G |
2: 70,521,208 (GRCm39) |
T393A |
probably benign |
Het |
| Gpc6 |
T |
A |
14: 117,163,370 (GRCm39) |
V8E |
possibly damaging |
Het |
| Gtf2a1l |
T |
C |
17: 89,001,890 (GRCm39) |
S202P |
probably benign |
Het |
| Gucy1a2 |
T |
C |
9: 3,759,777 (GRCm39) |
F528L |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,238,018 (GRCm39) |
H721R |
probably benign |
Het |
| Kcnu1 |
T |
C |
8: 26,339,763 (GRCm39) |
F27S |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,635,578 (GRCm39) |
W366R |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,396,908 (GRCm39) |
V954A |
probably damaging |
Het |
| Nudt13 |
T |
C |
14: 20,366,231 (GRCm39) |
I303T |
possibly damaging |
Het |
| Or10s1 |
T |
A |
9: 39,986,072 (GRCm39) |
H160Q |
probably damaging |
Het |
| Or2h1 |
A |
C |
17: 37,404,224 (GRCm39) |
S181A |
probably benign |
Het |
| Orc4 |
A |
G |
2: 48,800,281 (GRCm39) |
V289A |
probably benign |
Het |
| Pamr1 |
C |
A |
2: 102,469,686 (GRCm39) |
Q411K |
probably benign |
Het |
| Pdcl |
A |
G |
2: 37,247,386 (GRCm39) |
M1T |
probably null |
Het |
| Phf20 |
T |
C |
2: 156,146,736 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,365,424 (GRCm39) |
S49G |
probably damaging |
Het |
| Ppp2r3c |
A |
G |
12: 55,339,283 (GRCm39) |
|
probably null |
Het |
| Rdh14 |
G |
A |
12: 10,444,803 (GRCm39) |
S218N |
probably damaging |
Het |
| Rfx4 |
A |
G |
10: 84,675,978 (GRCm39) |
R16G |
probably benign |
Het |
| Scarb2 |
A |
C |
5: 92,594,203 (GRCm39) |
F453C |
probably damaging |
Het |
| Sh2d7 |
A |
G |
9: 54,448,515 (GRCm39) |
T179A |
probably benign |
Het |
| Spag6l |
C |
T |
16: 16,584,877 (GRCm39) |
A424T |
possibly damaging |
Het |
| Trim71 |
T |
C |
9: 114,354,083 (GRCm39) |
D307G |
probably benign |
Het |
| Ufl1 |
A |
T |
4: 25,267,790 (GRCm39) |
L294M |
probably damaging |
Het |
| Wdr93 |
C |
A |
7: 79,425,301 (GRCm39) |
P540Q |
probably damaging |
Het |
| Wmp |
T |
A |
X: 106,989,449 (GRCm39) |
E488V |
possibly damaging |
Het |
|
| Other mutations in Arel1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation