Incidental Mutation 'IGL02960:Usp17le'
| ID |
365292 |
| 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: 0.058)
|
| Stock # |
IGL02960
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104417256-104426677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 104417947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 398
(H398Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147776
(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: H398Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000051716
Gene: ENSMUSG00000043073
AA Change: H398Q
| 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: H398Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
A |
14: 59,380,257 (GRCm39) |
R14C |
probably benign |
Het |
| Adam29 |
A |
T |
8: 56,325,701 (GRCm39) |
L251* |
probably null |
Het |
| Atpaf2 |
T |
C |
11: 60,296,650 (GRCm39) |
E161G |
probably damaging |
Het |
| Brwd1 |
T |
C |
16: 95,858,666 (GRCm39) |
D381G |
probably damaging |
Het |
| Cept1 |
T |
A |
3: 106,446,712 (GRCm39) |
R45* |
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,367,615 (GRCm39) |
E273G |
unknown |
Het |
| Cuzd1 |
T |
C |
7: 130,921,832 (GRCm39) |
N57D |
probably benign |
Het |
| Cyp2b13 |
A |
G |
7: 25,761,101 (GRCm39) |
K53E |
probably benign |
Het |
| Fadd |
T |
C |
7: 144,134,276 (GRCm39) |
E203G |
probably benign |
Het |
| Gm3159 |
G |
A |
14: 4,400,552 (GRCm38) |
|
probably null |
Het |
| Gpr137c |
T |
C |
14: 45,483,890 (GRCm39) |
F206L |
possibly damaging |
Het |
| Hephl1 |
G |
T |
9: 14,995,615 (GRCm39) |
T471N |
probably damaging |
Het |
| Ido1 |
A |
T |
8: 25,083,345 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
C |
T |
11: 99,430,693 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,285,797 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
T |
A |
2: 30,147,025 (GRCm39) |
L613H |
probably damaging |
Het |
| Mettl14 |
A |
G |
3: 123,168,534 (GRCm39) |
Y169H |
probably damaging |
Het |
| Nlrp4a |
A |
G |
7: 26,149,155 (GRCm39) |
Q254R |
probably benign |
Het |
| Or4c15 |
A |
C |
2: 88,760,128 (GRCm39) |
M177R |
possibly damaging |
Het |
| Or7c70 |
A |
T |
10: 78,683,371 (GRCm39) |
I126N |
probably damaging |
Het |
| Pira12 |
T |
C |
7: 3,900,078 (GRCm39) |
T175A |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,447,670 (GRCm39) |
M2241K |
possibly damaging |
Het |
| Ptprd |
G |
A |
4: 76,047,105 (GRCm39) |
S387L |
probably damaging |
Het |
| Ryr1 |
A |
C |
7: 28,759,478 (GRCm39) |
L3264R |
probably damaging |
Het |
| Serpina16 |
G |
A |
12: 103,641,638 (GRCm39) |
T29I |
probably benign |
Het |
| Slc9a7 |
A |
G |
X: 20,052,382 (GRCm39) |
M237T |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,428,544 (GRCm39) |
T300A |
probably benign |
Het |
| Tcaf1 |
A |
C |
6: 42,663,393 (GRCm39) |
D162E |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,717,217 (GRCm39) |
|
probably benign |
Het |
| Utp15 |
G |
A |
13: 98,389,389 (GRCm39) |
T303M |
probably benign |
Het |
| Vmn2r86 |
A |
C |
10: 130,289,636 (GRCm39) |
D86E |
possibly damaging |
Het |
| Zmym2 |
T |
A |
14: 57,175,870 (GRCm39) |
C822S |
probably benign |
Het |
| Zp3r |
T |
C |
1: 130,511,175 (GRCm39) |
D336G |
possibly damaging |
Het |
| Zpr1 |
A |
G |
9: 46,184,849 (GRCm39) |
H82R |
probably damaging |
Het |
|
| Other mutations in Usp17le |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00582:Usp17le
|
APN |
7 |
104,417,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation