Incidental Mutation 'R0567:Usp17le'
ID |
46215 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp17le
|
Ensembl Gene |
ENSMUSG00000043073 |
Gene Name |
ubiquitin specific peptidase 17-like E |
Synonyms |
Gm6596, Dub3 |
MMRRC Submission |
038758-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R0567 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
104417256-104426677 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 104418105 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 346
(V346I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053464]
[ENSMUST00000211384]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053464
AA Change: V346I
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000051716 Gene: ENSMUSG00000043073 AA Change: V346I
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 |
possibly damaging
Transcript: ENSMUST00000211384
AA Change: V346I
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
G |
4: 86,146,253 (GRCm39) |
E303G |
probably damaging |
Het |
Akr1b1 |
A |
T |
6: 34,281,280 (GRCm39) |
|
probably null |
Het |
Alox8 |
A |
T |
11: 69,082,348 (GRCm39) |
|
probably null |
Het |
Apcdd1 |
G |
A |
18: 63,067,107 (GRCm39) |
E74K |
possibly damaging |
Het |
Atr |
T |
C |
9: 95,747,882 (GRCm39) |
V388A |
probably benign |
Het |
AW554918 |
G |
A |
18: 25,533,092 (GRCm39) |
E452K |
possibly damaging |
Het |
C1galt1 |
A |
G |
6: 7,866,874 (GRCm39) |
D240G |
probably damaging |
Het |
Ceacam10 |
T |
A |
7: 24,477,834 (GRCm39) |
D116E |
probably damaging |
Het |
Col15a1 |
G |
T |
4: 47,293,231 (GRCm39) |
V912L |
possibly damaging |
Het |
Cyp3a11 |
G |
A |
5: 145,805,959 (GRCm39) |
T136I |
probably damaging |
Het |
Denr |
C |
T |
5: 124,046,221 (GRCm39) |
T17M |
probably benign |
Het |
Doc2b |
A |
G |
11: 75,670,950 (GRCm39) |
F227S |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,376,414 (GRCm39) |
T1400S |
probably benign |
Het |
Egfr |
A |
T |
11: 16,822,873 (GRCm39) |
D412V |
probably benign |
Het |
Fryl |
C |
T |
5: 73,222,734 (GRCm39) |
G1949D |
possibly damaging |
Het |
Gstp3 |
A |
T |
19: 4,107,636 (GRCm39) |
L176Q |
possibly damaging |
Het |
H2ac12 |
T |
C |
13: 22,219,734 (GRCm39) |
|
probably benign |
Het |
Heatr5a |
T |
A |
12: 51,956,872 (GRCm39) |
N1075I |
probably damaging |
Het |
Ighv1-69 |
C |
T |
12: 115,587,169 (GRCm39) |
|
probably benign |
Het |
Lama3 |
A |
G |
18: 12,682,309 (GRCm39) |
I1092V |
probably benign |
Het |
Lipg |
A |
T |
18: 75,090,440 (GRCm39) |
H36Q |
probably benign |
Het |
Myh7b |
T |
C |
2: 155,468,318 (GRCm39) |
W836R |
probably damaging |
Het |
Oit3 |
A |
T |
10: 59,271,800 (GRCm39) |
C186S |
probably damaging |
Het |
Or4m1 |
A |
T |
14: 50,558,115 (GRCm39) |
M59K |
probably damaging |
Het |
P2ry2 |
T |
C |
7: 100,647,748 (GRCm39) |
T186A |
probably damaging |
Het |
Pyroxd2 |
T |
C |
19: 42,724,364 (GRCm39) |
T300A |
probably benign |
Het |
Rab26 |
C |
A |
17: 24,748,556 (GRCm39) |
V283F |
probably damaging |
Het |
Rad50 |
C |
T |
11: 53,545,783 (GRCm39) |
R1180Q |
probably damaging |
Het |
Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
A |
G |
5: 93,112,312 (GRCm39) |
D1891G |
possibly damaging |
Het |
Syne2 |
G |
A |
12: 75,937,004 (GRCm39) |
E201K |
probably damaging |
Het |
Taf6 |
A |
T |
5: 138,181,988 (GRCm39) |
|
probably null |
Het |
Tbc1d32 |
A |
T |
10: 56,050,059 (GRCm39) |
M493K |
possibly damaging |
Het |
Uaca |
A |
G |
9: 60,778,663 (GRCm39) |
T1017A |
probably benign |
Het |
Vmn1r71 |
T |
C |
7: 10,482,556 (GRCm39) |
D44G |
probably damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,030,665 (GRCm39) |
I830M |
possibly damaging |
Het |
Yju2b |
A |
G |
8: 84,987,294 (GRCm39) |
L93P |
probably damaging |
Het |
Zfp994 |
T |
C |
17: 22,419,449 (GRCm39) |
Y500C |
possibly damaging |
Het |
Zscan20 |
A |
G |
4: 128,483,243 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCAAGAACCTCATGTACTCTGCCC -3'
(R):5'- AGATGCCAGCTTCTAAGACCCTGC -3'
Sequencing Primer
(F):5'- CATGTACTCTGCCCTCTGG -3'
(R):5'- AGGTACTCCTGCTAGTGTTAAAGC -3'
|
Posted On |
2013-06-11 |