Incidental Mutation 'P0037:Arih1'
| ID |
7722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arih1
|
| Ensembl Gene |
ENSMUSG00000025234 |
| Gene Name |
ariadne RBR E3 ubiquitin protein ligase 1 |
| Synonyms |
UIP77 |
| MMRRC Submission |
038286-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
P0037 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
59295541-59393901 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59313076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1
(V1A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026264]
[ENSMUST00000165322]
[ENSMUST00000171856]
[ENSMUST00000171975]
|
| AlphaFold |
Q9Z1K5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000026264
AA Change: V323A
|
| SMART Domains |
Protein: ENSMUSP00000026264
Gene: ENSMUSG00000025234
AA Change: V323A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
90 |
N/A |
INTRINSIC |
|
RING
|
184 |
232 |
1.34e-1 |
SMART |
|
IBR
|
254 |
301 |
8.2e-8 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000165322
|
| SMART Domains |
Protein: ENSMUSP00000131516
Gene: ENSMUSG00000025234
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
46 |
N/A |
INTRINSIC |
|
RING
|
105 |
153 |
1.34e-1 |
SMART |
|
IBR
|
175 |
236 |
1.16e-25 |
SMART |
|
RING
|
195 |
266 |
2.01e0 |
SMART |
|
IBR
|
244 |
308 |
2.75e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168456
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171856
AA Change: V1A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
silent
Transcript: ENSMUST00000171975
|
| SMART Domains |
Protein: ENSMUSP00000126531
Gene: ENSMUSG00000025234
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
90 |
N/A |
INTRINSIC |
|
RING
|
184 |
232 |
1.34e-1 |
SMART |
|
IBR
|
254 |
315 |
1.16e-25 |
SMART |
|
RING
|
274 |
345 |
2.01e0 |
SMART |
|
IBR
|
323 |
387 |
2.75e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 81.9%
- 3x: 74.9%
- 10x: 53.1%
- 20x: 30.8%
|
| Validation Efficiency |
70% (70/100) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angpt2 |
A |
G |
8: 18,764,259 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
T |
C |
6: 102,186,235 (GRCm39) |
D584G |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,895,056 (GRCm39) |
W3471* |
probably null |
Het |
| Mmrn2 |
G |
A |
14: 34,125,022 (GRCm39) |
V868M |
probably damaging |
Het |
| Pcdh7 |
G |
T |
5: 58,070,590 (GRCm39) |
E1089D |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,303,984 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,071,608 (GRCm39) |
I2385T |
probably benign |
Het |
| Trpm7 |
T |
C |
2: 126,658,677 (GRCm39) |
|
probably benign |
Het |
| Wdr87-ps |
A |
G |
7: 29,233,039 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr95 |
A |
G |
5: 149,511,536 (GRCm39) |
N412S |
probably benign |
Het |
| Zmiz2 |
T |
C |
11: 6,353,885 (GRCm39) |
I755T |
probably damaging |
Het |
|
| Other mutations in Arih1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02114:Arih1
|
APN |
9 |
59,333,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02616:Arih1
|
APN |
9 |
59,319,759 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0411:Arih1
|
UTSW |
9 |
59,393,266 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0416:Arih1
|
UTSW |
9 |
59,333,993 (GRCm39) |
splice site |
probably benign |
|
|
R0602:Arih1
|
UTSW |
9 |
59,302,154 (GRCm39) |
splice site |
probably benign |
|
|
R1513:Arih1
|
UTSW |
9 |
59,310,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Arih1
|
UTSW |
9 |
59,302,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4880:Arih1
|
UTSW |
9 |
59,344,168 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5023:Arih1
|
UTSW |
9 |
59,393,515 (GRCm39) |
missense |
unknown |
|
|
R5057:Arih1
|
UTSW |
9 |
59,393,515 (GRCm39) |
missense |
unknown |
|
|
R5317:Arih1
|
UTSW |
9 |
59,300,619 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7348:Arih1
|
UTSW |
9 |
59,393,341 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8114:Arih1
|
UTSW |
9 |
59,303,836 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8305:Arih1
|
UTSW |
9 |
59,303,770 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9150:Arih1
|
UTSW |
9 |
59,344,069 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9621:Arih1
|
UTSW |
9 |
59,393,520 (GRCm39) |
small deletion |
probably benign |
|
|
R9748:Arih1
|
UTSW |
9 |
59,300,581 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1191:Arih1
|
UTSW |
9 |
59,393,605 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2012-10-29 |
Incidental Mutation