Incidental Mutation 'IGL00582:Usp17le'
| ID |
332704 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp17le
|
| Ensembl Gene |
ENSMUSG00000043073 |
| Gene Name |
ubiquitin specific peptidase 17-like E |
| Synonyms |
Gm6596, Dub3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL00582
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104417256-104426677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104417994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 383
(T383A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053464]
[ENSMUST00000211384]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053464
AA Change: T383A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000051716
Gene: ENSMUSG00000043073
AA Change: T383A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
84 |
379 |
9e-54 |
PFAM |
|
Pfam:UCH_1
|
85 |
362 |
2.3e-21 |
PFAM |
|
low complexity region
|
408 |
417 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211384
AA Change: T383A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
C |
A |
9: 70,674,177 (GRCm39) |
T513K |
possibly damaging |
Het |
| Capn1 |
C |
A |
19: 6,057,299 (GRCm39) |
G383V |
probably damaging |
Het |
| Csf1 |
A |
G |
3: 107,664,043 (GRCm39) |
S42P |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,796,257 (GRCm39) |
|
probably benign |
Het |
| Knl1 |
A |
T |
2: 118,932,980 (GRCm39) |
E2046D |
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,790,593 (GRCm39) |
V271A |
probably damaging |
Het |
| Pik3c2a |
G |
T |
7: 115,975,518 (GRCm39) |
T683K |
possibly damaging |
Het |
| Ranbp17 |
G |
A |
11: 33,454,683 (GRCm39) |
T55I |
probably damaging |
Het |
| Sema3d |
C |
T |
5: 12,635,162 (GRCm39) |
R743C |
probably damaging |
Het |
| Setbp1 |
G |
A |
18: 78,798,894 (GRCm39) |
Q1429* |
probably null |
Het |
| Sirt7 |
A |
G |
11: 120,509,735 (GRCm39) |
I383T |
probably benign |
Het |
| Sis |
T |
C |
3: 72,853,969 (GRCm39) |
I503V |
probably benign |
Het |
| Spmap2l |
A |
T |
5: 77,208,678 (GRCm39) |
Y402F |
probably damaging |
Het |
| Zfp248 |
A |
T |
6: 118,406,693 (GRCm39) |
Y299N |
probably damaging |
Het |
| Zfp420 |
T |
C |
7: 29,574,518 (GRCm39) |
I246T |
probably damaging |
Het |
|
| Other mutations in Usp17le |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01974:Usp17le
|
APN |
7 |
104,417,642 (GRCm39) |
missense |
probably benign |
|
|
IGL02364:Usp17le
|
APN |
7 |
104,417,982 (GRCm39) |
nonsense |
probably null |
|
|
IGL02413:Usp17le
|
APN |
7 |
104,418,933 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02433:Usp17le
|
APN |
7 |
104,418,408 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02960:Usp17le
|
APN |
7 |
104,417,947 (GRCm39) |
missense |
probably benign |
|
|
IGL02984:Usp17le
|
UTSW |
7 |
104,418,311 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0035:Usp17le
|
UTSW |
7 |
104,418,269 (GRCm39) |
nonsense |
probably null |
|
|
R0389:Usp17le
|
UTSW |
7 |
104,417,667 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0499:Usp17le
|
UTSW |
7 |
104,417,708 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0567:Usp17le
|
UTSW |
7 |
104,418,105 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0879:Usp17le
|
UTSW |
7 |
104,418,855 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0879:Usp17le
|
UTSW |
7 |
104,418,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4840:Usp17le
|
UTSW |
7 |
104,418,977 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5140:Usp17le
|
UTSW |
7 |
104,418,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5403:Usp17le
|
UTSW |
7 |
104,418,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Usp17le
|
UTSW |
7 |
104,418,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7047:Usp17le
|
UTSW |
7 |
104,417,640 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7157:Usp17le
|
UTSW |
7 |
104,417,696 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7361:Usp17le
|
UTSW |
7 |
104,418,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7386:Usp17le
|
UTSW |
7 |
104,417,514 (GRCm39) |
splice site |
probably null |
|
|
R7997:Usp17le
|
UTSW |
7 |
104,418,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8189:Usp17le
|
UTSW |
7 |
104,418,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8248:Usp17le
|
UTSW |
7 |
104,419,001 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8355:Usp17le
|
UTSW |
7 |
104,418,752 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8998:Usp17le
|
UTSW |
7 |
104,417,969 (GRCm39) |
missense |
probably benign |
|
|
R9250:Usp17le
|
UTSW |
7 |
104,418,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Usp17le
|
UTSW |
7 |
104,419,814 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2015-08-05 |
Incidental Mutation