Incidental Mutation 'R3422:Otub1'
| ID |
267099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otub1
|
| Ensembl Gene |
ENSMUSG00000024767 |
| Gene Name |
OTU domain, ubiquitin aldehyde binding 1 |
| Synonyms |
|
| MMRRC Submission |
040640-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3422 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
7175571-7183649 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 7176424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 237
(D237N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025679]
[ENSMUST00000040261]
[ENSMUST00000123594]
[ENSMUST00000142085]
|
| AlphaFold |
Q7TQI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025679
AA Change: D267N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025679
Gene: ENSMUSG00000024767
AA Change: D267N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C65
|
40 |
271 |
1e-89 |
PFAM |
|
Pfam:OTU
|
86 |
266 |
1.5e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040261
|
| SMART Domains |
Protein: ENSMUSP00000039507
Gene: ENSMUSG00000036278
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
|
A1pp
|
151 |
281 |
7.67e-46 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123594
AA Change: D237N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115195
Gene: ENSMUSG00000024767
AA Change: D237N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C65
|
10 |
241 |
2e-90 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127241
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142085
|
| SMART Domains |
Protein: ENSMUSP00000122945
Gene: ENSMUSG00000024767
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C65
|
10 |
95 |
2.6e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.4613 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
G |
6: 34,770,900 (GRCm39) |
T132A |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,983,072 (GRCm39) |
D1452G |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,984,116 (GRCm39) |
D1800G |
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,518,686 (GRCm39) |
D51N |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,466,586 (GRCm39) |
T2117A |
possibly damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,782,292 (GRCm39) |
K216M |
probably null |
Het |
| Ccdc73 |
G |
A |
2: 104,782,293 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,400,597 (GRCm39) |
W650R |
probably damaging |
Het |
| D930048N14Rik |
T |
C |
11: 51,545,785 (GRCm39) |
*226R |
probably null |
Het |
| Grin1 |
C |
T |
2: 25,193,926 (GRCm39) |
G390D |
probably damaging |
Het |
| Ifit1bl1 |
T |
G |
19: 34,571,350 (GRCm39) |
N369T |
probably benign |
Het |
| Kcnip1 |
A |
G |
11: 33,595,594 (GRCm39) |
V43A |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,621,595 (GRCm39) |
I81N |
probably damaging |
Het |
| Me2 |
C |
T |
18: 73,924,265 (GRCm39) |
A316T |
probably damaging |
Het |
| Mgat4d |
T |
C |
8: 84,084,772 (GRCm39) |
S172P |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nmt2 |
A |
G |
2: 3,285,425 (GRCm39) |
E31G |
possibly damaging |
Het |
| Nuak2 |
A |
G |
1: 132,259,818 (GRCm39) |
D532G |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,882,536 (GRCm39) |
V63L |
possibly damaging |
Het |
| Odad2 |
T |
C |
18: 7,223,523 (GRCm39) |
|
probably benign |
Het |
| Or1e1 |
A |
G |
11: 73,245,460 (GRCm39) |
N294D |
probably damaging |
Het |
| Or4k15b |
T |
C |
14: 50,271,997 (GRCm39) |
T288A |
possibly damaging |
Het |
| Pik3cg |
A |
T |
12: 32,254,738 (GRCm39) |
F416L |
probably damaging |
Het |
| Psmb2 |
T |
C |
4: 126,571,630 (GRCm39) |
M28T |
probably damaging |
Het |
| Saysd1 |
T |
A |
14: 20,132,994 (GRCm39) |
K54N |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,012,407 (GRCm39) |
V359A |
probably benign |
Het |
| Slc7a3 |
T |
A |
X: 100,124,481 (GRCm39) |
|
probably benign |
Het |
| Soat2 |
T |
C |
15: 102,065,244 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,143,311 (GRCm39) |
K756R |
probably benign |
Het |
| Tafa1 |
C |
A |
6: 96,626,099 (GRCm39) |
D112E |
probably damaging |
Het |
| Tlr4 |
A |
G |
4: 66,757,773 (GRCm39) |
I189V |
probably benign |
Het |
| Vsig2 |
G |
A |
9: 37,452,775 (GRCm39) |
V195I |
possibly damaging |
Het |
| Zfp217 |
A |
G |
2: 169,961,937 (GRCm39) |
F130S |
possibly damaging |
Het |
| Zfp91 |
G |
A |
19: 12,747,656 (GRCm39) |
A489V |
probably benign |
Het |
|
| Other mutations in Otub1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Otub1
|
APN |
19 |
7,181,416 (GRCm39) |
splice site |
probably benign |
|
|
IGL02755:Otub1
|
APN |
19 |
7,183,624 (GRCm39) |
start codon destroyed |
probably benign |
0.08 |
|
R1545:Otub1
|
UTSW |
19 |
7,176,571 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2261:Otub1
|
UTSW |
19 |
7,176,861 (GRCm39) |
splice site |
probably null |
|
|
R4583:Otub1
|
UTSW |
19 |
7,181,801 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4822:Otub1
|
UTSW |
19 |
7,181,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Otub1
|
UTSW |
19 |
7,177,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Otub1
|
UTSW |
19 |
7,177,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6144:Otub1
|
UTSW |
19 |
7,176,518 (GRCm39) |
nonsense |
probably null |
|
|
R7849:Otub1
|
UTSW |
19 |
7,177,425 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8098:Otub1
|
UTSW |
19 |
7,181,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Otub1
|
UTSW |
19 |
7,177,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9663:Otub1
|
UTSW |
19 |
7,176,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTTGGCAGGAATGCTTGG -3'
(R):5'- AACCCATGTGCAAGGAGAGC -3'
Sequencing Primer
(F):5'- GCATCCCCTTTAATAAAACATGGAAG -3'
(R):5'- TGCAAGGAGAGCGACCACATC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation