Incidental Mutation 'R6743:Yod1'
ID |
532725 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Yod1
|
Ensembl Gene |
ENSMUSG00000046404 |
Gene Name |
YOD1 deubiquitinase |
Synonyms |
9930028C20Rik |
MMRRC Submission |
044860-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6743 (G1)
|
Quality Score |
140.008 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
130645064-130652093 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 130645275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 19
(G19S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049813]
[ENSMUST00000050406]
[ENSMUST00000066863]
[ENSMUST00000169659]
[ENSMUST00000171479]
[ENSMUST00000185233]
[ENSMUST00000186777]
[ENSMUST00000189534]
[ENSMUST00000186867]
[ENSMUST00000188520]
[ENSMUST00000191301]
[ENSMUST00000187089]
[ENSMUST00000189167]
[ENSMUST00000191347]
|
AlphaFold |
Q8CB27 |
PDB Structure |
Solution NMR Structure of Ubiquitin thioesterase OTU1 (EC 3.1.2.-) from Mus musculus, Northeast Structural Genomics Consortium Target MmT2A [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049813
AA Change: G19S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000055318 Gene: ENSMUSG00000046404 AA Change: G19S
Domain | Start | End | E-Value | Type |
PDB:2KZR|A
|
42 |
127 |
3e-54 |
PDB |
Blast:UBQ
|
43 |
118 |
2e-20 |
BLAST |
Pfam:OTU
|
150 |
268 |
3.4e-8 |
PFAM |
ZnF_C2H2
|
313 |
337 |
2.12e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000050406
|
SMART Domains |
Protein: ENSMUSP00000133073 Gene: ENSMUSG00000026409
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
8.1e-107 |
PFAM |
Pfam:KTI12
|
40 |
206 |
9.6e-8 |
PFAM |
Pfam:AAA_33
|
42 |
198 |
3.1e-9 |
PFAM |
PGAM
|
253 |
400 |
3.82e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066863
|
SMART Domains |
Protein: ENSMUSP00000066426 Gene: ENSMUSG00000026409
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
1.2e-106 |
PFAM |
Pfam:KTI12
|
41 |
207 |
3.5e-8 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
1.2e-10 |
PFAM |
PGAM
|
253 |
400 |
3.82e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169659
|
SMART Domains |
Protein: ENSMUSP00000127587 Gene: ENSMUSG00000026409
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
1.3e-106 |
PFAM |
Pfam:KTI12
|
41 |
207 |
4.3e-8 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
1.2e-10 |
PFAM |
PGAM
|
253 |
400 |
3.82e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171479
|
SMART Domains |
Protein: ENSMUSP00000129747 Gene: ENSMUSG00000026409
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
1.2e-106 |
PFAM |
Pfam:KTI12
|
41 |
208 |
3.7e-8 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
1.1e-10 |
PFAM |
PGAM
|
253 |
400 |
3.82e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185233
|
SMART Domains |
Protein: ENSMUSP00000140551 Gene: ENSMUSG00000026409
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
1.2e-106 |
PFAM |
Pfam:KTI12
|
41 |
207 |
3.5e-8 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
1.2e-10 |
PFAM |
PGAM
|
253 |
400 |
3.82e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186777
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189534
|
SMART Domains |
Protein: ENSMUSP00000140355 Gene: ENSMUSG00000026409
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
1.2e-106 |
PFAM |
Pfam:KTI12
|
41 |
208 |
3.7e-8 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
1.1e-10 |
PFAM |
PGAM
|
253 |
400 |
3.82e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186867
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188520
|
SMART Domains |
Protein: ENSMUSP00000140786 Gene: ENSMUSG00000101904
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
6.3e-107 |
PFAM |
Pfam:KTI12
|
41 |
209 |
2.3e-8 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
6.4e-11 |
PFAM |
PGAM
|
253 |
342 |
1.31e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191301
|
SMART Domains |
Protein: ENSMUSP00000140995 Gene: ENSMUSG00000026409
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
181 |
9.5e-70 |
PFAM |
Pfam:KTI12
|
41 |
183 |
3.2e-8 |
PFAM |
Pfam:AAA_33
|
42 |
184 |
1.1e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187089
|
SMART Domains |
Protein: ENSMUSP00000140612 Gene: ENSMUSG00000026409
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
1e-103 |
PFAM |
Pfam:KTI12
|
41 |
207 |
2.3e-5 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
1.4e-8 |
PFAM |
PGAM
|
253 |
400 |
2.9e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189167
|
SMART Domains |
Protein: ENSMUSP00000140984 Gene: ENSMUSG00000026409
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
6.3e-107 |
PFAM |
Pfam:KTI12
|
41 |
209 |
2.3e-8 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
6.4e-11 |
PFAM |
PGAM
|
253 |
342 |
1.31e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191347
|
SMART Domains |
Protein: ENSMUSP00000140698 Gene: ENSMUSG00000026409
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
1.2e-103 |
PFAM |
Pfam:KTI12
|
41 |
207 |
2.4e-5 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
1.6e-8 |
PFAM |
PGAM
|
253 |
400 |
2.9e-20 |
SMART |
|
Meta Mutation Damage Score |
0.0977 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (39/39) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. The protein encoded by this gene belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
C |
T |
17: 31,327,321 (GRCm39) |
R339C |
possibly damaging |
Het |
Adamts6 |
G |
A |
13: 104,565,436 (GRCm39) |
G721R |
probably damaging |
Het |
Adnp2 |
A |
G |
18: 80,171,274 (GRCm39) |
V1045A |
probably benign |
Het |
Agbl3 |
T |
C |
6: 34,823,888 (GRCm39) |
I856T |
probably benign |
Het |
Anapc1 |
T |
A |
2: 128,526,454 (GRCm39) |
K115* |
probably null |
Het |
Arc |
A |
G |
15: 74,543,636 (GRCm39) |
S196P |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,447,562 (GRCm39) |
I768T |
possibly damaging |
Het |
Blk |
C |
T |
14: 63,622,375 (GRCm39) |
R55H |
probably benign |
Het |
Ccdc158 |
T |
C |
5: 92,810,005 (GRCm39) |
S168G |
probably benign |
Het |
Cda |
G |
T |
4: 138,066,253 (GRCm39) |
T128K |
probably benign |
Het |
Celsr1 |
T |
A |
15: 85,791,799 (GRCm39) |
T2601S |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,013,847 (GRCm39) |
V1545A |
possibly damaging |
Het |
Dst |
T |
A |
1: 34,309,971 (GRCm39) |
N6264K |
probably damaging |
Het |
Ednra |
T |
C |
8: 78,401,718 (GRCm39) |
S191G |
probably damaging |
Het |
Elk3 |
A |
T |
10: 93,100,912 (GRCm39) |
S280T |
possibly damaging |
Het |
Etnk1 |
A |
G |
6: 143,126,343 (GRCm39) |
I63V |
possibly damaging |
Het |
Fscb |
A |
G |
12: 64,518,347 (GRCm39) |
S1040P |
unknown |
Het |
Gm14295 |
T |
G |
2: 176,502,420 (GRCm39) |
C637G |
probably damaging |
Het |
Gm5114 |
T |
C |
7: 39,057,997 (GRCm39) |
T541A |
probably benign |
Het |
Man2c1 |
T |
C |
9: 57,042,849 (GRCm39) |
F240L |
probably benign |
Het |
Map2 |
A |
T |
1: 66,454,766 (GRCm39) |
I1219L |
probably benign |
Het |
Map3k13 |
A |
G |
16: 21,711,173 (GRCm39) |
Y152C |
probably damaging |
Het |
Morc1 |
G |
A |
16: 48,322,683 (GRCm39) |
A327T |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,366,475 (GRCm39) |
Y553F |
probably benign |
Het |
Myo9b |
T |
A |
8: 71,804,803 (GRCm39) |
|
probably null |
Het |
Or14j1 |
A |
C |
17: 38,146,694 (GRCm39) |
D268A |
probably damaging |
Het |
Or5b3 |
C |
T |
19: 13,387,957 (GRCm39) |
T8I |
probably damaging |
Het |
Pam |
A |
G |
1: 97,823,774 (GRCm39) |
V219A |
probably benign |
Het |
Panx1 |
A |
G |
9: 14,918,929 (GRCm39) |
I310T |
possibly damaging |
Het |
Pde6a |
T |
A |
18: 61,397,057 (GRCm39) |
F634L |
possibly damaging |
Het |
Pkd1l2 |
C |
A |
8: 117,757,370 (GRCm39) |
C1556F |
probably damaging |
Het |
Prdm5 |
G |
A |
6: 65,860,635 (GRCm39) |
V440I |
probably damaging |
Het |
Rasa2 |
T |
C |
9: 96,493,493 (GRCm39) |
T64A |
probably damaging |
Het |
Sec24b |
A |
T |
3: 129,834,881 (GRCm39) |
Y106N |
probably damaging |
Het |
Sfswap |
C |
T |
5: 129,627,883 (GRCm39) |
Q689* |
probably null |
Het |
Slamf8 |
C |
T |
1: 172,417,965 (GRCm39) |
|
probably null |
Het |
Tektl1 |
G |
A |
10: 78,588,726 (GRCm39) |
T28M |
probably benign |
Het |
Tmt1a3 |
A |
G |
15: 100,233,123 (GRCm39) |
K105E |
probably benign |
Het |
Tsr1 |
T |
C |
11: 74,799,177 (GRCm39) |
V786A |
probably benign |
Het |
Zmynd10 |
T |
C |
9: 107,425,079 (GRCm39) |
I58T |
possibly damaging |
Het |
|
Other mutations in Yod1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00585:Yod1
|
APN |
1 |
130,646,870 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02321:Yod1
|
APN |
1 |
130,646,688 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03018:Yod1
|
APN |
1 |
130,646,695 (GRCm39) |
missense |
probably benign |
0.08 |
R1310:Yod1
|
UTSW |
1 |
130,646,567 (GRCm39) |
missense |
probably benign |
|
R5825:Yod1
|
UTSW |
1 |
130,646,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R6115:Yod1
|
UTSW |
1 |
130,646,800 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6367:Yod1
|
UTSW |
1 |
130,645,275 (GRCm39) |
missense |
probably damaging |
0.96 |
R6437:Yod1
|
UTSW |
1 |
130,646,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R6489:Yod1
|
UTSW |
1 |
130,645,275 (GRCm39) |
missense |
probably damaging |
0.96 |
R6491:Yod1
|
UTSW |
1 |
130,645,275 (GRCm39) |
missense |
probably damaging |
0.96 |
R6729:Yod1
|
UTSW |
1 |
130,645,275 (GRCm39) |
missense |
probably damaging |
0.96 |
R6731:Yod1
|
UTSW |
1 |
130,645,275 (GRCm39) |
missense |
probably damaging |
0.96 |
R6732:Yod1
|
UTSW |
1 |
130,645,275 (GRCm39) |
missense |
probably damaging |
0.96 |
R6742:Yod1
|
UTSW |
1 |
130,645,275 (GRCm39) |
missense |
probably damaging |
0.96 |
R6766:Yod1
|
UTSW |
1 |
130,647,008 (GRCm39) |
nonsense |
probably null |
|
R6781:Yod1
|
UTSW |
1 |
130,645,275 (GRCm39) |
missense |
probably damaging |
0.96 |
R7831:Yod1
|
UTSW |
1 |
130,646,986 (GRCm39) |
missense |
probably damaging |
0.99 |
R8058:Yod1
|
UTSW |
1 |
130,646,806 (GRCm39) |
nonsense |
probably null |
|
R8369:Yod1
|
UTSW |
1 |
130,645,360 (GRCm39) |
missense |
probably benign |
0.31 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTAGACTCGGGAACTCCTTC -3'
(R):5'- AGGTCCCCAAGAGTGATGTC -3'
Sequencing Primer
(F):5'- ATAAATGCTGCCGACGCG -3'
(R):5'- AAGAGTGATGTCCCGGTCG -3'
|
Posted On |
2018-08-29 |