Incidental Mutation 'R1145:Otud6b'
| ID |
102354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otud6b
|
| Ensembl Gene |
ENSMUSG00000040550 |
| Gene Name |
OTU domain containing 6B |
| Synonyms |
2600013N14Rik |
| MMRRC Submission |
039218-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.455)
|
| Stock # |
R1145 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
14809503-14826413 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14812532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 272
(T272S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117268]
|
| AlphaFold |
Q8K2H2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117268
AA Change: T272S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000113553
Gene: ENSMUSG00000040550
AA Change: T272S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
33 |
106 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C65
|
129 |
322 |
9.5e-8 |
PFAM |
|
Pfam:OTU
|
185 |
310 |
6.8e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151012
|
| SMART Domains |
Protein: ENSMUSP00000120430
Gene: ENSMUSG00000040550
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
82 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0853 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.4%
- 10x: 88.4%
- 20x: 65.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete perinatal lethality, decreased fetal size, and ventricular septal defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
C |
16: 56,488,639 (GRCm39) |
S1257P |
possibly damaging |
Het |
| Arhgef5 |
C |
A |
6: 43,250,022 (GRCm39) |
Q258K |
possibly damaging |
Het |
| C1s1 |
C |
A |
6: 124,517,759 (GRCm39) |
D74Y |
probably damaging |
Het |
| Cpxm2 |
A |
G |
7: 131,659,377 (GRCm39) |
S497P |
probably damaging |
Het |
| Ctsj |
C |
T |
13: 61,150,357 (GRCm39) |
S214N |
probably damaging |
Het |
| Dnali1 |
T |
C |
4: 124,959,340 (GRCm39) |
S18G |
possibly damaging |
Het |
| Eif4g3 |
C |
T |
4: 137,893,129 (GRCm39) |
T959M |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,727,430 (GRCm39) |
F1231L |
probably benign |
Het |
| Glp1r |
T |
C |
17: 31,138,406 (GRCm39) |
V160A |
probably benign |
Het |
| Gm10553 |
T |
C |
1: 85,078,170 (GRCm39) |
S96P |
probably benign |
Het |
| Gm9726 |
C |
T |
12: 93,895,054 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
T |
1: 150,555,358 (GRCm39) |
|
probably null |
Het |
| Ldb2 |
A |
G |
5: 44,690,016 (GRCm39) |
L201P |
probably damaging |
Het |
| Odad2 |
G |
T |
18: 7,268,436 (GRCm39) |
P361Q |
probably damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,035,329 (GRCm39) |
Y44H |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Sel1l3 |
C |
T |
5: 53,289,169 (GRCm39) |
R884H |
probably damaging |
Het |
| Slc43a2 |
T |
A |
11: 75,457,815 (GRCm39) |
Y363* |
probably null |
Het |
| Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
| Tap2 |
C |
A |
17: 34,434,914 (GRCm39) |
D652E |
possibly damaging |
Het |
| Unc80 |
T |
C |
1: 66,511,247 (GRCm39) |
V85A |
probably damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vwa3a |
T |
C |
7: 120,392,566 (GRCm39) |
Y802H |
probably damaging |
Het |
| Zc3h4 |
G |
A |
7: 16,150,838 (GRCm39) |
R60Q |
possibly damaging |
Het |
|
| Other mutations in Otud6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Otud6b
|
APN |
4 |
14,811,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01293:Otud6b
|
APN |
4 |
14,822,682 (GRCm39) |
splice site |
probably benign |
|
|
IGL01903:Otud6b
|
APN |
4 |
14,818,458 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02193:Otud6b
|
APN |
4 |
14,812,543 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03372:Otud6b
|
APN |
4 |
14,812,519 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4402001:Otud6b
|
UTSW |
4 |
14,818,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0587:Otud6b
|
UTSW |
4 |
14,815,661 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0841:Otud6b
|
UTSW |
4 |
14,812,532 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1145:Otud6b
|
UTSW |
4 |
14,812,532 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1416:Otud6b
|
UTSW |
4 |
14,818,473 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1676:Otud6b
|
UTSW |
4 |
14,825,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4982:Otud6b
|
UTSW |
4 |
14,815,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Otud6b
|
UTSW |
4 |
14,826,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5615:Otud6b
|
UTSW |
4 |
14,818,187 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6327:Otud6b
|
UTSW |
4 |
14,826,496 (GRCm39) |
unclassified |
probably benign |
|
|
R6419:Otud6b
|
UTSW |
4 |
14,822,766 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6713:Otud6b
|
UTSW |
4 |
14,822,739 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7073:Otud6b
|
UTSW |
4 |
14,811,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Otud6b
|
UTSW |
4 |
14,825,858 (GRCm39) |
splice site |
probably null |
|
|
R7743:Otud6b
|
UTSW |
4 |
14,818,389 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7861:Otud6b
|
UTSW |
4 |
14,826,414 (GRCm39) |
missense |
probably benign |
|
|
R8095:Otud6b
|
UTSW |
4 |
14,825,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9200:Otud6b
|
UTSW |
4 |
14,811,712 (GRCm39) |
nonsense |
probably null |
|
|
R9492:Otud6b
|
UTSW |
4 |
14,818,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation