Incidental Mutation 'R6421:Arel1'
| ID |
518191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arel1
|
| Ensembl Gene |
ENSMUSG00000042350 |
| Gene Name |
apoptosis resistant E3 ubiquitin protein ligase 1 |
| Synonyms |
1110018G07Rik |
| MMRRC Submission |
044420-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.715)
|
| Stock # |
R6421 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
84964922-85017674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84981119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 296
(Y296C)
|
| 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: Y296C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: Y296C
| 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: Y296C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: Y296C
| 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 |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.3%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
A |
T |
17: 42,983,392 (GRCm39) |
F97I |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,656,855 (GRCm39) |
S2160P |
possibly damaging |
Het |
| Anapc15-ps |
T |
C |
10: 95,509,076 (GRCm39) |
D68G |
probably benign |
Het |
| Dcbld1 |
T |
C |
10: 52,162,450 (GRCm39) |
I147T |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,912,365 (GRCm39) |
T669I |
probably damaging |
Het |
| Gm7276 |
T |
C |
18: 77,273,366 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
A |
C |
11: 115,141,956 (GRCm39) |
M821R |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,779,282 (GRCm39) |
C2587S |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,704,551 (GRCm39) |
L193P |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,143,700 (GRCm39) |
S1011G |
probably benign |
Het |
| Or6c6 |
A |
T |
10: 129,187,370 (GRCm39) |
K313* |
probably null |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,301,484 (GRCm39) |
I123T |
possibly damaging |
Het |
| Scn1a |
T |
G |
2: 66,103,271 (GRCm39) |
K1985N |
probably damaging |
Het |
| Serpinb9f |
A |
C |
13: 33,518,516 (GRCm39) |
I339L |
probably benign |
Het |
| Spata31e4 |
A |
G |
13: 50,855,987 (GRCm39) |
R542G |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Stx4a |
C |
A |
7: 127,445,673 (GRCm39) |
T193K |
probably damaging |
Het |
| Traf3ip2 |
T |
C |
10: 39,515,400 (GRCm39) |
|
probably null |
Het |
| Wwc2 |
A |
T |
8: 48,353,781 (GRCm39) |
Y118N |
probably damaging |
Het |
| Xpo1 |
A |
G |
11: 23,241,490 (GRCm39) |
T846A |
possibly damaging |
Het |
| Zfp616 |
A |
G |
11: 73,974,696 (GRCm39) |
N413D |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATAGCAGTACACCTTCTTCGG -3'
(R):5'- AGTTGAAAGCTGTGACTTGGTC -3'
Sequencing Primer
(F):5'- GGTTTCTTCACCTTCTCAGGGG -3'
(R):5'- AAAGCTGTGACTTGGTCTTTTTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation