Incidental Mutation 'R0879:Usp17le'
ID |
81923 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp17le
|
Ensembl Gene |
ENSMUSG00000043073 |
Gene Name |
ubiquitin specific peptidase 17-like E |
Synonyms |
Gm6596, Dub3 |
MMRRC Submission |
039046-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R0879 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
104417256-104426677 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 104418855 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 96
(L96M)
|
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: L96M
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000051716 Gene: ENSMUSG00000043073 AA Change: L96M
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: L96M
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.3%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aagab |
T |
A |
9: 63,524,892 (GRCm39) |
|
probably benign |
Het |
Adm |
A |
G |
7: 110,227,559 (GRCm39) |
D25G |
possibly damaging |
Het |
Adprs |
C |
T |
4: 126,210,410 (GRCm39) |
V357I |
probably benign |
Het |
Akap6 |
G |
T |
12: 52,927,582 (GRCm39) |
R164L |
probably damaging |
Het |
Baz2a |
A |
G |
10: 127,957,173 (GRCm39) |
N972S |
probably damaging |
Het |
Brd2 |
A |
T |
17: 34,332,420 (GRCm39) |
V232D |
probably benign |
Het |
C6 |
A |
G |
15: 4,792,818 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
A |
C |
7: 17,491,627 (GRCm39) |
I666L |
probably benign |
Het |
Col7a1 |
T |
C |
9: 108,805,159 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
C |
T |
11: 117,947,661 (GRCm39) |
|
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,467,019 (GRCm39) |
V3615E |
possibly damaging |
Het |
Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
Enpp2 |
T |
C |
15: 54,741,326 (GRCm39) |
E324G |
probably damaging |
Het |
Fgd4 |
A |
G |
16: 16,295,313 (GRCm39) |
V222A |
probably damaging |
Het |
Gm4076 |
A |
G |
13: 85,275,326 (GRCm39) |
|
noncoding transcript |
Het |
Gm4775 |
T |
C |
14: 106,338,227 (GRCm39) |
|
noncoding transcript |
Het |
Igsf9b |
T |
C |
9: 27,245,038 (GRCm39) |
S1002P |
probably damaging |
Het |
Jag1 |
A |
G |
2: 136,942,001 (GRCm39) |
S244P |
possibly damaging |
Het |
Klhl41 |
A |
T |
2: 69,513,827 (GRCm39) |
|
probably benign |
Het |
Ltbr |
A |
G |
6: 125,290,338 (GRCm39) |
|
probably benign |
Het |
Megf8 |
A |
G |
7: 25,037,896 (GRCm39) |
E804G |
possibly damaging |
Het |
Mybpc1 |
G |
A |
10: 88,407,378 (GRCm39) |
|
probably benign |
Het |
Npas4 |
T |
C |
19: 5,036,944 (GRCm39) |
R407G |
probably benign |
Het |
Oxnad1 |
T |
A |
14: 31,821,553 (GRCm39) |
Y213N |
probably damaging |
Het |
Pde6d |
A |
G |
1: 86,473,523 (GRCm39) |
F91S |
probably benign |
Het |
Pelp1 |
A |
G |
11: 70,286,123 (GRCm39) |
|
probably benign |
Het |
Plscr2 |
T |
C |
9: 92,169,846 (GRCm39) |
Y99H |
probably damaging |
Het |
Rft1 |
T |
C |
14: 30,404,705 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,860,588 (GRCm39) |
Y30C |
probably benign |
Het |
Selenbp2 |
A |
G |
3: 94,606,863 (GRCm39) |
T108A |
possibly damaging |
Het |
Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
Stra6 |
T |
C |
9: 58,042,487 (GRCm39) |
|
probably null |
Het |
Vmn1r76 |
A |
T |
7: 11,664,662 (GRCm39) |
I184N |
probably benign |
Het |
Vmn2r102 |
T |
C |
17: 19,914,454 (GRCm39) |
V673A |
probably damaging |
Het |
Wdr17 |
T |
G |
8: 55,114,516 (GRCm39) |
I667L |
probably benign |
Het |
Zfp292 |
T |
C |
4: 34,811,218 (GRCm39) |
T609A |
probably benign |
Het |
Zfp821 |
T |
C |
8: 110,448,474 (GRCm39) |
I135T |
possibly damaging |
Het |
Zfp865 |
A |
G |
7: 5,034,342 (GRCm39) |
T776A |
probably benign |
Het |
Zp2 |
G |
T |
7: 119,734,757 (GRCm39) |
P477Q |
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 |
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 |
104,418,854 (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'- GGCAGGATTCATGCATTGTTTCCAAG -3'
(R):5'- GTTCTTATCCCATAGCAGATCCAGCAC -3'
Sequencing Primer
(F):5'- CATGCATTGTTTCCAAGGTGAAC -3'
(R):5'- AGATCCAGCACTATCATCTCCTG -3'
|
Posted On |
2013-11-08 |