Incidental Mutation 'IGL02413:Usp17le'
| ID |
292334 |
| 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 # |
IGL02413
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104417256-104426677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104418933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 70
(N70D)
|
| 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: N70D
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000051716
Gene: ENSMUSG00000043073
AA Change: N70D
| 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: N70D
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
A |
16: 20,241,187 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
A |
G |
18: 61,866,860 (GRCm39) |
L733P |
probably benign |
Het |
| Aqr |
G |
A |
2: 113,949,261 (GRCm39) |
A979V |
possibly damaging |
Het |
| Axin1 |
A |
G |
17: 26,407,153 (GRCm39) |
E582G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,386,264 (GRCm39) |
S166P |
possibly damaging |
Het |
| Cd248 |
G |
T |
19: 5,120,201 (GRCm39) |
G683V |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,915,427 (GRCm39) |
Q849K |
possibly damaging |
Het |
| Ctnnal1 |
C |
A |
4: 56,835,306 (GRCm39) |
V324F |
probably benign |
Het |
| Ctrc |
C |
A |
4: 141,571,028 (GRCm39) |
V71L |
possibly damaging |
Het |
| Exoc3l |
C |
A |
8: 106,019,070 (GRCm39) |
D465Y |
probably damaging |
Het |
| Flna |
T |
C |
X: 73,284,888 (GRCm39) |
E417G |
probably benign |
Het |
| Grm6 |
T |
A |
11: 50,750,766 (GRCm39) |
V643D |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,759,800 (GRCm39) |
Y615C |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,597 (GRCm39) |
Y92C |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,138,763 (GRCm39) |
|
probably null |
Het |
| Kcnh6 |
T |
A |
11: 105,918,460 (GRCm39) |
I823N |
possibly damaging |
Het |
| Klhl38 |
A |
T |
15: 58,186,417 (GRCm39) |
V104D |
probably damaging |
Het |
| Lpo |
C |
T |
11: 87,697,732 (GRCm39) |
V692M |
possibly damaging |
Het |
| Mnd1 |
T |
C |
3: 84,023,786 (GRCm39) |
H100R |
probably benign |
Het |
| Mterf4 |
A |
G |
1: 93,230,526 (GRCm39) |
F207L |
probably damaging |
Het |
| Oog3 |
C |
A |
4: 143,884,721 (GRCm39) |
W405L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,384 (GRCm39) |
L100P |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,205,020 (GRCm39) |
Y714H |
probably damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,868,549 (GRCm39) |
D358G |
probably damaging |
Het |
| Steap3 |
T |
C |
1: 120,169,502 (GRCm39) |
Y265C |
probably damaging |
Het |
| Tcl1 |
C |
A |
12: 105,185,082 (GRCm39) |
E43* |
probably null |
Het |
| Terb1 |
A |
G |
8: 105,221,500 (GRCm39) |
|
probably null |
Het |
| Tmprss11a |
T |
A |
5: 86,570,507 (GRCm39) |
I151F |
possibly damaging |
Het |
| Trappc10 |
T |
C |
10: 78,046,610 (GRCm39) |
R430G |
probably damaging |
Het |
| Vmn1r45 |
T |
C |
6: 89,910,503 (GRCm39) |
S36G |
possibly damaging |
Het |
| Vsig8 |
A |
C |
1: 172,387,943 (GRCm39) |
Y11S |
probably damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,416,851 (GRCm39) |
L516Q |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation