Incidental Mutation 'R4294:Otud7a'
| ID |
323218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otud7a
|
| Ensembl Gene |
ENSMUSG00000033510 |
| Gene Name |
OTU domain containing 7A |
| Synonyms |
Cezanne 2 protein, Otud7 |
| MMRRC Submission |
041083-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R4294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
63094499-63408776 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63346939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 171
(D171G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058476]
[ENSMUST00000177534]
|
| AlphaFold |
Q8R554 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058476
AA Change: D172G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057282
Gene: ENSMUSG00000033510
AA Change: D172G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2L2D|A
|
11 |
82 |
4e-43 |
PDB |
|
Pfam:OTU
|
207 |
371 |
1.5e-26 |
PFAM |
|
low complexity region
|
478 |
510 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
691 |
N/A |
INTRINSIC |
|
low complexity region
|
730 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
834 |
844 |
N/A |
INTRINSIC |
|
low complexity region
|
865 |
872 |
N/A |
INTRINSIC |
|
Pfam:zf-A20
|
888 |
912 |
4.3e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177534
AA Change: D171G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135559
Gene: ENSMUSG00000033510
AA Change: D171G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
28 |
66 |
2e-7 |
PFAM |
|
Pfam:OTU
|
206 |
377 |
5.7e-32 |
PFAM |
|
low complexity region
|
484 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
553 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
601 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6572 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a deubiquitinizing enzyme and possible tumor suppressor. The encoded protein acts on TNF receptor associated factor 6 (TRAF6) to control nuclear factor kappa B expression. However, this gene is downregulated by SNAIL1 in hepatocellular carcinoma cells, contributing to their progression and malignancy. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight, abnormal spike wave discharge, decreased dendritic spine density, decreased prepulse inhibition, impaired coordination, decreased grip strength, decreased startle reflex, impaired ultrasonic vocalization and delayed tooth eruption. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
A |
T |
19: 21,576,113 (GRCm39) |
|
probably null |
Het |
| Abca3 |
A |
G |
17: 24,619,543 (GRCm39) |
I960M |
possibly damaging |
Het |
| Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
| Bsnd |
C |
T |
4: 106,342,355 (GRCm39) |
R271H |
probably benign |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Clip2 |
A |
C |
5: 134,521,167 (GRCm39) |
V957G |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 39,000,235 (GRCm39) |
I145F |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,806,005 (GRCm39) |
S121T |
probably benign |
Het |
| Dlc1 |
A |
G |
8: 37,051,907 (GRCm39) |
V608A |
possibly damaging |
Het |
| Dlg3 |
A |
T |
X: 99,840,288 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,807,242 (GRCm39) |
R1362W |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gimap8 |
A |
T |
6: 48,635,891 (GRCm39) |
H552L |
probably benign |
Het |
| Gpr151 |
T |
C |
18: 42,711,602 (GRCm39) |
T359A |
probably benign |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,398 (GRCm39) |
V224A |
probably benign |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Magel2 |
T |
G |
7: 62,028,515 (GRCm39) |
V473G |
possibly damaging |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Nat8f1 |
T |
C |
6: 85,887,637 (GRCm39) |
T108A |
probably benign |
Het |
| Nphp3 |
T |
A |
9: 103,899,916 (GRCm39) |
L502Q |
probably damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
| Rpl27-ps3 |
T |
A |
18: 6,332,607 (GRCm39) |
|
probably null |
Het |
| Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
| Setd5 |
AT |
ATT |
6: 113,088,281 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
G |
5: 113,433,270 (GRCm39) |
Y182H |
probably damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Thrb |
C |
T |
14: 18,011,145 (GRCm38) |
Q174* |
probably null |
Het |
| Ticam1 |
A |
G |
17: 56,578,339 (GRCm39) |
I252T |
probably benign |
Het |
| Tmem237 |
A |
G |
1: 59,158,995 (GRCm39) |
|
probably benign |
Het |
| Trpv1 |
C |
T |
11: 73,131,290 (GRCm39) |
A276V |
probably damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
| Vmn2r74 |
T |
A |
7: 85,606,624 (GRCm39) |
I241F |
probably benign |
Het |
|
| Other mutations in Otud7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0026:Otud7a
|
UTSW |
7 |
63,385,549 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0241:Otud7a
|
UTSW |
7 |
63,346,992 (GRCm39) |
splice site |
probably benign |
|
|
R0576:Otud7a
|
UTSW |
7 |
63,335,266 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0594:Otud7a
|
UTSW |
7 |
63,377,220 (GRCm39) |
nonsense |
probably null |
|
|
R0611:Otud7a
|
UTSW |
7 |
63,385,638 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1473:Otud7a
|
UTSW |
7 |
63,404,377 (GRCm39) |
splice site |
probably benign |
|
|
R1519:Otud7a
|
UTSW |
7 |
63,408,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Otud7a
|
UTSW |
7 |
63,383,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1941:Otud7a
|
UTSW |
7 |
63,379,574 (GRCm39) |
nonsense |
probably null |
|
|
R1952:Otud7a
|
UTSW |
7 |
63,300,624 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2199:Otud7a
|
UTSW |
7 |
63,407,404 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2404:Otud7a
|
UTSW |
7 |
63,346,899 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4238:Otud7a
|
UTSW |
7 |
63,300,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4239:Otud7a
|
UTSW |
7 |
63,300,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4512:Otud7a
|
UTSW |
7 |
63,379,625 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4748:Otud7a
|
UTSW |
7 |
63,385,663 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4815:Otud7a
|
UTSW |
7 |
63,379,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4942:Otud7a
|
UTSW |
7 |
63,407,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5249:Otud7a
|
UTSW |
7 |
63,407,181 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5332:Otud7a
|
UTSW |
7 |
63,385,574 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5438:Otud7a
|
UTSW |
7 |
63,407,207 (GRCm39) |
missense |
unknown |
|
|
R6185:Otud7a
|
UTSW |
7 |
63,408,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7099:Otud7a
|
UTSW |
7 |
63,407,203 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7893:Otud7a
|
UTSW |
7 |
63,408,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Otud7a
|
UTSW |
7 |
63,407,612 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8930:Otud7a
|
UTSW |
7 |
63,407,239 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8932:Otud7a
|
UTSW |
7 |
63,407,239 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9225:Otud7a
|
UTSW |
7 |
63,407,469 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9792:Otud7a
|
UTSW |
7 |
63,378,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9793:Otud7a
|
UTSW |
7 |
63,378,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Otud7a
|
UTSW |
7 |
63,408,448 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGGTCCCTGAGGCTATC -3'
(R):5'- GAGAATTCCGATGGCCAATCCC -3'
Sequencing Primer
(F):5'- TTCCTTCTCATCAGCAGAGAAGCG -3'
(R):5'- TCCGATGGCCAATCCCAAGAAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation