Incidental Mutation 'IGL01786:Otud3'
| ID |
278908 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Otud3
|
| Ensembl Gene |
ENSMUSG00000041161 |
| Gene Name |
OTU domain containing 3 |
| Synonyms |
3110030K17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01786
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
138622690-138641256 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138624208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 278
(D278G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097830]
|
| AlphaFold |
B1AZ99 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097830
AA Change: D278G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095441
Gene: ENSMUSG00000041161
AA Change: D278G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
40 |
N/A |
INTRINSIC |
|
Pfam:OTU
|
70 |
185 |
3.6e-12 |
PFAM |
|
coiled coil region
|
340 |
370 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
T |
A |
8: 25,486,855 (GRCm39) |
H20L |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,513,060 (GRCm39) |
Q645L |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,425,466 (GRCm39) |
L272Q |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,497,219 (GRCm39) |
N532S |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,279,137 (GRCm39) |
D468E |
probably benign |
Het |
| Hk2 |
A |
G |
6: 82,716,534 (GRCm39) |
S333P |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,116,936 (GRCm39) |
T398A |
probably benign |
Het |
| Klra8 |
T |
A |
6: 130,096,031 (GRCm39) |
|
probably null |
Het |
| Mcm8 |
A |
G |
2: 132,669,868 (GRCm39) |
D314G |
probably benign |
Het |
| Mga |
T |
A |
2: 119,733,393 (GRCm39) |
D80E |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,085,946 (GRCm39) |
Q36R |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,156,330 (GRCm39) |
S726P |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,338,052 (GRCm39) |
S242G |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,030,083 (GRCm39) |
Y265* |
probably null |
Het |
| Or12j3 |
T |
A |
7: 139,953,038 (GRCm39) |
M162L |
probably benign |
Het |
| Or5b12b |
C |
T |
19: 12,861,641 (GRCm39) |
T132I |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,824,488 (GRCm39) |
V298A |
probably damaging |
Het |
| Phc1 |
T |
C |
6: 122,296,479 (GRCm39) |
D847G |
possibly damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,179,881 (GRCm39) |
F110L |
probably damaging |
Het |
| Plxnd1 |
T |
A |
6: 115,936,896 (GRCm39) |
T1638S |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
| Rnf32 |
T |
C |
5: 29,411,812 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,503,581 (GRCm39) |
|
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,263,782 (GRCm39) |
Y650C |
probably damaging |
Het |
| Sv2a |
A |
T |
3: 96,095,525 (GRCm39) |
Y306F |
probably benign |
Het |
| Tmem50a |
T |
C |
4: 134,625,758 (GRCm39) |
E153G |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,853,715 (GRCm39) |
|
probably null |
Het |
| Trarg1 |
G |
A |
11: 76,571,292 (GRCm39) |
V103I |
probably benign |
Het |
| Usp20 |
A |
G |
2: 30,907,175 (GRCm39) |
E594G |
probably benign |
Het |
|
| Other mutations in Otud3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01785:Otud3
|
APN |
4 |
138,624,208 (GRCm39) |
missense |
probably benign |
|
|
IGL02125:Otud3
|
APN |
4 |
138,624,025 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03256:Otud3
|
APN |
4 |
138,636,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0647:Otud3
|
UTSW |
4 |
138,640,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1723:Otud3
|
UTSW |
4 |
138,625,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1744:Otud3
|
UTSW |
4 |
138,623,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1760:Otud3
|
UTSW |
4 |
138,623,092 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1954:Otud3
|
UTSW |
4 |
138,625,343 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3900:Otud3
|
UTSW |
4 |
138,624,196 (GRCm39) |
missense |
probably benign |
|
|
R4890:Otud3
|
UTSW |
4 |
138,641,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5534:Otud3
|
UTSW |
4 |
138,624,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5769:Otud3
|
UTSW |
4 |
138,625,421 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5948:Otud3
|
UTSW |
4 |
138,624,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6235:Otud3
|
UTSW |
4 |
138,629,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7121:Otud3
|
UTSW |
4 |
138,624,067 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7189:Otud3
|
UTSW |
4 |
138,636,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Otud3
|
UTSW |
4 |
138,629,196 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8034:Otud3
|
UTSW |
4 |
138,623,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9363:Otud3
|
UTSW |
4 |
138,623,133 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9616:Otud3
|
UTSW |
4 |
138,624,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Otud3
|
UTSW |
4 |
138,624,086 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2015-04-16 |
Incidental Mutation