Incidental Mutation 'R2655:Usp35'
ID |
476528 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp35
|
Ensembl Gene |
ENSMUSG00000035713 |
Gene Name |
ubiquitin specific peptidase 35 |
Synonyms |
LOC244144, LOC381901 |
MMRRC Submission |
040430-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R2655 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
96958587-96981227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 96961354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 691
(T691S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004622]
[ENSMUST00000139582]
[ENSMUST00000168435]
|
AlphaFold |
M0QWN7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004622
|
SMART Domains |
Protein: ENSMUSP00000004622 Gene: ENSMUSG00000004508
Domain | Start | End | E-Value | Type |
PH
|
9 |
121 |
1.07e-22 |
SMART |
Blast:PH
|
268 |
314 |
4e-11 |
BLAST |
low complexity region
|
348 |
355 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139582
AA Change: T691S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137726 Gene: ENSMUSG00000035713 AA Change: T691S
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
102 |
N/A |
INTRINSIC |
Pfam:UCH
|
440 |
915 |
5.2e-50 |
PFAM |
Pfam:UCH_1
|
441 |
890 |
1.5e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168435
AA Change: T691S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137927 Gene: ENSMUSG00000035713 AA Change: T691S
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
102 |
N/A |
INTRINSIC |
Pfam:UCH
|
440 |
915 |
7.1e-48 |
PFAM |
Pfam:UCH_1
|
441 |
890 |
7.4e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180476
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181651
|
SMART Domains |
Protein: ENSMUSP00000137720 Gene: ENSMUSG00000035713
Domain | Start | End | E-Value | Type |
Pfam:UCH
|
8 |
223 |
1e-24 |
PFAM |
Pfam:UCH_1
|
9 |
196 |
5.7e-22 |
PFAM |
low complexity region
|
236 |
247 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot5 |
T |
A |
12: 84,122,650 (GRCm39) |
S411R |
probably benign |
Het |
Adamts12 |
A |
T |
15: 11,065,174 (GRCm39) |
N20Y |
possibly damaging |
Het |
Bbs9 |
G |
A |
9: 22,415,348 (GRCm39) |
E91K |
probably damaging |
Het |
Casp4 |
C |
A |
9: 5,322,894 (GRCm39) |
L57I |
possibly damaging |
Het |
Cat |
T |
C |
2: 103,302,191 (GRCm39) |
K169E |
probably damaging |
Het |
Cav1 |
A |
G |
6: 17,339,359 (GRCm39) |
Y148C |
probably damaging |
Het |
Cep112 |
T |
C |
11: 108,328,027 (GRCm39) |
|
probably benign |
Het |
Chaf1b |
T |
C |
16: 93,688,399 (GRCm39) |
S165P |
probably damaging |
Het |
Crat |
A |
G |
2: 30,292,703 (GRCm39) |
S115P |
probably damaging |
Het |
Eif2b1 |
A |
G |
5: 124,714,917 (GRCm39) |
S120P |
probably damaging |
Het |
Epor |
A |
G |
9: 21,872,016 (GRCm39) |
S236P |
probably damaging |
Het |
Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
Igfbpl1 |
T |
C |
4: 45,816,289 (GRCm39) |
T179A |
probably damaging |
Het |
Ighv14-4 |
T |
G |
12: 114,140,068 (GRCm39) |
Y114S |
probably damaging |
Het |
Ipcef1 |
T |
C |
10: 6,929,657 (GRCm39) |
I29V |
probably benign |
Het |
Junb |
A |
G |
8: 85,704,137 (GRCm39) |
S308P |
probably damaging |
Het |
Kcnh5 |
T |
C |
12: 75,161,314 (GRCm39) |
E198G |
probably damaging |
Het |
Ltbp1 |
G |
A |
17: 75,312,978 (GRCm39) |
R33H |
possibly damaging |
Het |
Map3k20 |
C |
A |
2: 72,263,764 (GRCm39) |
T471K |
probably damaging |
Het |
Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
Odad4 |
T |
A |
11: 100,444,405 (GRCm39) |
W237R |
probably damaging |
Het |
Or51a10 |
T |
C |
7: 103,698,638 (GRCm39) |
M308V |
probably benign |
Het |
Or8g35 |
A |
T |
9: 39,381,924 (GRCm39) |
S33T |
probably benign |
Het |
Patj |
T |
C |
4: 98,325,687 (GRCm39) |
V508A |
possibly damaging |
Het |
Pkd1 |
T |
C |
17: 24,795,464 (GRCm39) |
V2319A |
probably damaging |
Het |
Pnpla7 |
A |
G |
2: 24,942,330 (GRCm39) |
Y83C |
probably damaging |
Het |
Prb1a |
G |
C |
6: 132,187,425 (GRCm39) |
Q19E |
unknown |
Het |
Rasa3 |
T |
C |
8: 13,645,373 (GRCm39) |
T189A |
possibly damaging |
Het |
Reck |
T |
A |
4: 43,938,966 (GRCm39) |
D777E |
probably benign |
Het |
Rfx6 |
A |
G |
10: 51,569,873 (GRCm39) |
|
probably benign |
Het |
Serpinb13 |
A |
G |
1: 106,928,157 (GRCm39) |
D259G |
probably damaging |
Het |
Slit2 |
G |
A |
5: 48,346,917 (GRCm39) |
R253Q |
possibly damaging |
Het |
Slu7 |
A |
G |
11: 43,331,475 (GRCm39) |
E203G |
probably benign |
Het |
Syt4 |
A |
T |
18: 31,576,597 (GRCm39) |
D252E |
probably benign |
Het |
Tpte |
A |
G |
8: 22,801,294 (GRCm39) |
|
probably null |
Het |
Ttll7 |
A |
G |
3: 146,653,376 (GRCm39) |
Y729C |
probably damaging |
Het |
Vmn1r211 |
A |
G |
13: 23,036,586 (GRCm39) |
V27A |
probably benign |
Het |
Vmn2r72 |
T |
C |
7: 85,400,477 (GRCm39) |
T191A |
possibly damaging |
Het |
Vwa5b1 |
C |
T |
4: 138,321,614 (GRCm39) |
G393D |
probably damaging |
Het |
|
Other mutations in Usp35 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03239:Usp35
|
APN |
7 |
96,970,799 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0046:Usp35
|
UTSW |
7 |
96,962,804 (GRCm39) |
splice site |
probably null |
|
R0046:Usp35
|
UTSW |
7 |
96,962,804 (GRCm39) |
splice site |
probably null |
|
R0739:Usp35
|
UTSW |
7 |
96,960,874 (GRCm39) |
nonsense |
probably null |
|
R3623:Usp35
|
UTSW |
7 |
96,961,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R4750:Usp35
|
UTSW |
7 |
96,959,546 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4967:Usp35
|
UTSW |
7 |
96,962,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R5317:Usp35
|
UTSW |
7 |
96,960,846 (GRCm39) |
missense |
probably damaging |
0.99 |
R5341:Usp35
|
UTSW |
7 |
96,975,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R5761:Usp35
|
UTSW |
7 |
96,961,558 (GRCm39) |
missense |
probably benign |
0.00 |
R5894:Usp35
|
UTSW |
7 |
96,962,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R6113:Usp35
|
UTSW |
7 |
96,973,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R6282:Usp35
|
UTSW |
7 |
96,975,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6454:Usp35
|
UTSW |
7 |
96,960,851 (GRCm39) |
nonsense |
probably null |
|
R6454:Usp35
|
UTSW |
7 |
96,960,767 (GRCm39) |
missense |
probably damaging |
0.98 |
R7142:Usp35
|
UTSW |
7 |
96,960,754 (GRCm39) |
missense |
probably damaging |
0.97 |
R7158:Usp35
|
UTSW |
7 |
96,975,171 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
R7260:Usp35
|
UTSW |
7 |
96,969,286 (GRCm39) |
missense |
probably damaging |
0.98 |
R8270:Usp35
|
UTSW |
7 |
96,961,551 (GRCm39) |
missense |
probably benign |
|
R8275:Usp35
|
UTSW |
7 |
96,964,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R8795:Usp35
|
UTSW |
7 |
96,961,270 (GRCm39) |
missense |
probably benign |
|
R8795:Usp35
|
UTSW |
7 |
96,961,167 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9198:Usp35
|
UTSW |
7 |
96,962,276 (GRCm39) |
missense |
probably damaging |
1.00 |
RF003:Usp35
|
UTSW |
7 |
96,971,303 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Predicted Primers |
|
Posted On |
2017-05-11 |