Incidental Mutation 'R6458:Arel1'
| ID |
517453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arel1
|
| Ensembl Gene |
ENSMUSG00000042350 |
| Gene Name |
apoptosis resistant E3 ubiquitin protein ligase 1 |
| Synonyms |
1110018G07Rik |
| MMRRC Submission |
044593-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.715)
|
| Stock # |
R6458 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84964922-85017674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84987159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 86
(N86D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043169]
[ENSMUST00000163231]
[ENSMUST00000163372]
[ENSMUST00000165093]
[ENSMUST00000165886]
[ENSMUST00000167448]
[ENSMUST00000169161]
|
| AlphaFold |
Q8CHG5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043169
AA Change: N86D
PolyPhen 2
Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: N86D
| 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: N86D
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: N86D
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165093
|
| SMART Domains |
Protein: ENSMUSP00000129147
Gene: ENSMUSG00000042350
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165886
|
| SMART Domains |
Protein: ENSMUSP00000126508
Gene: ENSMUSG00000042350
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167448
|
| SMART Domains |
Protein: ENSMUSP00000127426
Gene: ENSMUSG00000042350
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169161
AA Change: N86D
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126523
Gene: ENSMUSG00000042350
AA Change: N86D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
19 |
N/A |
INTRINSIC |
|
IG_FLMN
|
56 |
160 |
4.53e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.3561 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.3%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
A |
G |
2: 164,646,655 (GRCm39) |
V28A |
possibly damaging |
Het |
| Ak1 |
T |
A |
2: 32,520,385 (GRCm39) |
M61K |
probably damaging |
Het |
| Akap12 |
T |
C |
10: 4,305,148 (GRCm39) |
S653P |
probably damaging |
Het |
| Anapc4 |
G |
A |
5: 53,021,895 (GRCm39) |
R659H |
possibly damaging |
Het |
| Bco1 |
A |
G |
8: 117,854,245 (GRCm39) |
D390G |
possibly damaging |
Het |
| Ccr1l1 |
A |
T |
9: 123,778,203 (GRCm39) |
D81E |
probably damaging |
Het |
| Chd1 |
A |
T |
17: 15,950,864 (GRCm39) |
N185I |
probably benign |
Het |
| Clca4b |
T |
G |
3: 144,617,088 (GRCm39) |
N854T |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,433,546 (GRCm39) |
T1466A |
unknown |
Het |
| Cxcr4 |
T |
C |
1: 128,516,831 (GRCm39) |
I277V |
probably benign |
Het |
| Dgkq |
A |
G |
5: 108,802,242 (GRCm39) |
V441A |
possibly damaging |
Het |
| Dnah10 |
G |
T |
5: 124,886,333 (GRCm39) |
L3030F |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 77,991,469 (GRCm39) |
D55E |
probably benign |
Het |
| Ermap |
A |
T |
4: 119,035,337 (GRCm39) |
N550K |
probably damaging |
Het |
| Fnbp1l |
A |
T |
3: 122,350,089 (GRCm39) |
I374N |
probably damaging |
Het |
| Gadl1 |
T |
A |
9: 115,870,070 (GRCm39) |
*479K |
probably null |
Het |
| Gm5591 |
T |
A |
7: 38,218,459 (GRCm39) |
T805S |
probably damaging |
Het |
| H2-T3 |
A |
T |
17: 36,497,911 (GRCm39) |
M334K |
possibly damaging |
Het |
| Ihh |
C |
T |
1: 74,985,601 (GRCm39) |
A295T |
probably damaging |
Het |
| Il18r1 |
T |
A |
1: 40,530,342 (GRCm39) |
Y356* |
probably null |
Het |
| Lingo3 |
A |
G |
10: 80,671,150 (GRCm39) |
V260A |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,335,500 (GRCm39) |
M1408L |
probably benign |
Het |
| Mical1 |
C |
A |
10: 41,360,731 (GRCm39) |
H657N |
probably benign |
Het |
| Mpp2 |
T |
A |
11: 101,971,595 (GRCm39) |
M12L |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,553,017 (GRCm39) |
D4425E |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,579,694 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
A |
12: 29,945,298 (GRCm39) |
F1021Y |
unknown |
Het |
| Nbas |
T |
C |
12: 13,338,750 (GRCm39) |
S197P |
probably damaging |
Het |
| Nckap1 |
T |
C |
2: 80,342,893 (GRCm39) |
|
probably null |
Het |
| Nek1 |
T |
G |
8: 61,553,046 (GRCm39) |
V903G |
probably benign |
Het |
| Or14c43 |
A |
G |
7: 86,114,888 (GRCm39) |
I90V |
probably damaging |
Het |
| Or1e18-ps1 |
T |
G |
11: 73,279,517 (GRCm39) |
S112R |
probably damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,562 (GRCm39) |
I162N |
possibly damaging |
Het |
| Or8b40 |
T |
C |
9: 38,027,350 (GRCm39) |
V91A |
possibly damaging |
Het |
| Ppm1j |
T |
C |
3: 104,688,560 (GRCm39) |
V53A |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,286,540 (GRCm39) |
D328E |
probably damaging |
Het |
| Rgma |
T |
A |
7: 73,059,442 (GRCm39) |
V88E |
probably damaging |
Het |
| Slc30a6 |
A |
G |
17: 74,730,108 (GRCm39) |
T333A |
probably damaging |
Het |
| Spr |
T |
C |
6: 85,114,039 (GRCm39) |
|
probably null |
Het |
| Srek1 |
A |
T |
13: 103,880,076 (GRCm39) |
V494E |
probably benign |
Het |
| Ston1 |
A |
T |
17: 88,942,731 (GRCm39) |
T46S |
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,645,079 (GRCm39) |
K858E |
possibly damaging |
Het |
| Thoc1 |
G |
A |
18: 9,993,333 (GRCm39) |
R564Q |
probably benign |
Het |
| Thoc2l |
A |
T |
5: 104,670,169 (GRCm39) |
I1564L |
probably benign |
Het |
| Tmc5 |
T |
A |
7: 118,244,539 (GRCm39) |
N472K |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,594,134 (GRCm39) |
T856A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,608,854 (GRCm39) |
W17721R |
probably damaging |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,365 (GRCm39) |
I43T |
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,427,984 (GRCm39) |
I761F |
probably damaging |
Het |
| Zfp109 |
T |
C |
7: 23,927,870 (GRCm39) |
D521G |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 83,005,475 (GRCm39) |
H793R |
probably benign |
Het |
| Zfp800 |
A |
T |
6: 28,244,215 (GRCm39) |
I250N |
probably damaging |
Het |
| Zpbp |
T |
A |
11: 11,358,538 (GRCm39) |
Y243F |
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 |
|
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 |
|
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'- ACAGTGATCTCATAGCGCCC -3'
(R):5'- ACAGGCAAAGACTTGTCCATG -3'
Sequencing Primer
(F):5'- CAGCCTTGCGCACAGTGAAG -3'
(R):5'- CTCGCTGTGTTTCTAAGACCAGAAC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation