Incidental Mutation 'R2161:Arel1'
ID |
235171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arel1
|
Ensembl Gene |
ENSMUSG00000042350 |
Gene Name |
apoptosis resistant E3 ubiquitin protein ligase 1 |
Synonyms |
1110018G07Rik |
MMRRC Submission |
040164-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.713)
|
Stock # |
R2161 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
84964922-85017674 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 84968030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048780
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043169]
[ENSMUST00000163231]
|
AlphaFold |
Q8CHG5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043169
|
SMART Domains |
Protein: ENSMUSP00000048780 Gene: ENSMUSG00000042350
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 benign
Transcript: ENSMUST00000163231
|
SMART Domains |
Protein: ENSMUSP00000129213 Gene: ENSMUSG00000042350
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 |
noncoding transcript
Transcript: ENSMUST00000163802
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
G |
15: 11,215,821 (GRCm39) |
M281V |
probably damaging |
Het |
Ap1g1 |
A |
T |
8: 110,570,986 (GRCm39) |
D423V |
probably damaging |
Het |
Arhgap33 |
T |
C |
7: 30,228,075 (GRCm39) |
|
probably null |
Het |
Arhgef18 |
T |
G |
8: 3,489,575 (GRCm39) |
Y302* |
probably null |
Het |
Blm |
T |
C |
7: 80,131,118 (GRCm39) |
|
probably null |
Het |
Cep295 |
T |
G |
9: 15,264,354 (GRCm39) |
E97D |
probably damaging |
Het |
Cep295nl |
T |
C |
11: 118,223,335 (GRCm39) |
D503G |
possibly damaging |
Het |
Chchd2 |
G |
T |
5: 129,912,989 (GRCm39) |
A29E |
probably damaging |
Het |
Cic |
A |
G |
7: 24,987,559 (GRCm39) |
|
probably null |
Het |
Cmtr1 |
C |
T |
17: 29,921,147 (GRCm39) |
L798F |
probably benign |
Het |
Col11a2 |
C |
A |
17: 34,283,771 (GRCm39) |
|
probably benign |
Het |
Crispld2 |
A |
G |
8: 120,742,078 (GRCm39) |
Y142C |
probably damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Dsp |
G |
A |
13: 38,380,427 (GRCm39) |
D1792N |
probably damaging |
Het |
Esp4 |
C |
A |
17: 40,913,284 (GRCm39) |
N50K |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,133,451 (GRCm39) |
S404P |
probably damaging |
Het |
Ggnbp2 |
A |
G |
11: 84,725,259 (GRCm39) |
F639L |
probably benign |
Het |
Golph3l |
G |
A |
3: 95,524,436 (GRCm39) |
G229D |
probably damaging |
Het |
Hlx |
G |
T |
1: 184,459,838 (GRCm39) |
S433R |
probably benign |
Het |
Kdm2b |
T |
A |
5: 123,018,762 (GRCm39) |
S233C |
probably damaging |
Het |
Krt14 |
C |
T |
11: 100,097,939 (GRCm39) |
G115R |
unknown |
Het |
Ldb3 |
A |
G |
14: 34,289,353 (GRCm39) |
|
probably null |
Het |
Lrp1 |
T |
A |
10: 127,391,607 (GRCm39) |
E2937D |
probably damaging |
Het |
Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
Naa20 |
T |
A |
2: 145,753,715 (GRCm39) |
|
probably null |
Het |
Ndufa8 |
A |
T |
2: 35,926,527 (GRCm39) |
W170R |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,328,041 (GRCm39) |
L671I |
probably damaging |
Het |
Or52e19b |
T |
A |
7: 103,032,407 (GRCm39) |
R267S |
probably benign |
Het |
Or5b108 |
T |
A |
19: 13,168,673 (GRCm39) |
I214K |
probably damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptpro |
A |
G |
6: 137,426,885 (GRCm39) |
D280G |
probably benign |
Het |
Reps1 |
A |
G |
10: 17,972,031 (GRCm39) |
E361G |
probably damaging |
Het |
Rgs6 |
A |
G |
12: 83,138,578 (GRCm39) |
E304G |
probably damaging |
Het |
Siglece |
T |
C |
7: 43,308,793 (GRCm39) |
T187A |
probably benign |
Het |
Slc5a10 |
C |
T |
11: 61,610,760 (GRCm39) |
G5R |
probably null |
Het |
Sohlh1 |
A |
G |
2: 25,734,648 (GRCm39) |
I215T |
probably benign |
Het |
Stag1 |
T |
A |
9: 100,771,648 (GRCm39) |
V691D |
probably damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Tmed8 |
A |
G |
12: 87,221,031 (GRCm39) |
V185A |
probably damaging |
Het |
Trim71 |
A |
G |
9: 114,341,840 (GRCm39) |
F814S |
probably damaging |
Het |
Trmt9b |
T |
C |
8: 36,972,804 (GRCm39) |
C85R |
probably damaging |
Het |
Tsnax |
A |
T |
8: 125,742,428 (GRCm39) |
K52N |
probably damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,682,292 (GRCm39) |
T676A |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATTGATTGCTTGGCTCTGC -3'
(R):5'- TGGCATTGGTTTCATTCTGCATAC -3'
Sequencing Primer
(F):5'- AGTGGTAGTCAAGGCACCTGTC -3'
(R):5'- CATACCCATGTATGTAGGTAACTGAC -3'
|
Posted On |
2014-10-01 |