Incidental Mutation 'IGL00338:Usp17lc'
ID |
5188 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Usp17lc
|
Ensembl Gene |
ENSMUSG00000058976 |
Gene Name |
ubiquitin specific peptidase 17-like C |
Synonyms |
Dub-2, Dub2b, Dub2, Usp17l5 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00338
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
103065903-103068381 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103068148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 481
(H481R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079348]
[ENSMUST00000106892]
|
AlphaFold |
G5E8I7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079348
AA Change: H481R
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000078323 Gene: ENSMUSG00000058976 AA Change: H481R
Domain | Start | End | E-Value | Type |
Pfam:UCH
|
50 |
345 |
3.8e-54 |
PFAM |
Pfam:UCH_1
|
51 |
327 |
3.5e-25 |
PFAM |
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
low complexity region
|
529 |
539 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106892
AA Change: H481R
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102505 Gene: ENSMUSG00000058976 AA Change: H481R
Domain | Start | End | E-Value | Type |
Pfam:UCH
|
50 |
345 |
1.3e-60 |
PFAM |
Pfam:UCH_1
|
51 |
327 |
5.5e-30 |
PFAM |
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
low complexity region
|
529 |
539 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116717
|
Meta Mutation Damage Score |
0.3015 |
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic elthality before implantation, failure to hatch from the zona pellucida, decreased cell proliferation and increased apoptosis. Mice heterozygous for this allele exhibit abnormal body, testis and thymus weight and reduced sperm motility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd11 |
A |
G |
5: 135,040,839 (GRCm39) |
D217G |
probably benign |
Het |
Ankar |
T |
A |
1: 72,729,290 (GRCm39) |
Y285F |
probably damaging |
Het |
Ano8 |
C |
A |
8: 71,936,902 (GRCm39) |
|
probably benign |
Het |
Bche |
A |
G |
3: 73,608,640 (GRCm39) |
V262A |
probably benign |
Het |
Car13 |
T |
C |
3: 14,721,964 (GRCm39) |
|
probably benign |
Het |
Cd244a |
T |
A |
1: 171,401,938 (GRCm39) |
|
probably null |
Het |
Cfap157 |
T |
C |
2: 32,671,395 (GRCm39) |
D137G |
probably damaging |
Het |
Cobl |
T |
C |
11: 12,325,813 (GRCm39) |
R119G |
possibly damaging |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Gp2 |
A |
G |
7: 119,053,613 (GRCm39) |
M116T |
probably damaging |
Het |
Gp5 |
C |
A |
16: 30,127,640 (GRCm39) |
A345S |
probably benign |
Het |
Gphn |
A |
T |
12: 78,551,406 (GRCm39) |
I285F |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,110,863 (GRCm39) |
V995A |
probably damaging |
Het |
Hecw2 |
T |
C |
1: 53,867,040 (GRCm39) |
|
probably benign |
Het |
Hydin |
C |
A |
8: 111,296,434 (GRCm39) |
N3654K |
possibly damaging |
Het |
Inpp5b |
A |
G |
4: 124,678,168 (GRCm39) |
Y440C |
possibly damaging |
Het |
Or4a47 |
A |
T |
2: 89,665,802 (GRCm39) |
Y162* |
probably null |
Het |
Pphln1 |
A |
G |
15: 93,363,091 (GRCm39) |
K306E |
probably damaging |
Het |
Rnf26 |
A |
C |
9: 44,024,156 (GRCm39) |
S31A |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,001,907 (GRCm39) |
S1072T |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,065,643 (GRCm39) |
W304R |
probably damaging |
Het |
Slc22a14 |
A |
G |
9: 119,007,579 (GRCm39) |
F277L |
possibly damaging |
Het |
Slc22a26 |
A |
T |
19: 7,760,340 (GRCm39) |
L468I |
probably benign |
Het |
Tchh |
C |
T |
3: 93,354,951 (GRCm39) |
L1464F |
unknown |
Het |
Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,804,409 (GRCm39) |
S288P |
probably damaging |
Het |
Vps50 |
C |
T |
6: 3,602,670 (GRCm39) |
T929M |
probably benign |
Het |
Zdhhc8 |
A |
G |
16: 18,043,060 (GRCm39) |
L380P |
possibly damaging |
Het |
|
Other mutations in Usp17lc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00499:Usp17lc
|
APN |
7 |
103,067,672 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00499:Usp17lc
|
APN |
7 |
103,067,673 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01446:Usp17lc
|
APN |
7 |
103,067,651 (GRCm39) |
missense |
probably benign |
0.00 |
R1466:Usp17lc
|
UTSW |
7 |
103,068,148 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1466:Usp17lc
|
UTSW |
7 |
103,068,148 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1584:Usp17lc
|
UTSW |
7 |
103,068,148 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1754:Usp17lc
|
UTSW |
7 |
103,068,055 (GRCm39) |
missense |
probably benign |
0.01 |
R2987:Usp17lc
|
UTSW |
7 |
103,067,509 (GRCm39) |
missense |
probably damaging |
0.99 |
R3969:Usp17lc
|
UTSW |
7 |
103,067,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R4661:Usp17lc
|
UTSW |
7 |
103,067,797 (GRCm39) |
missense |
probably benign |
0.00 |
R5118:Usp17lc
|
UTSW |
7 |
103,067,868 (GRCm39) |
missense |
probably benign |
0.05 |
R5413:Usp17lc
|
UTSW |
7 |
103,067,763 (GRCm39) |
missense |
probably benign |
|
R6962:Usp17lc
|
UTSW |
7 |
103,068,118 (GRCm39) |
missense |
probably benign |
0.00 |
R7412:Usp17lc
|
UTSW |
7 |
103,067,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R7638:Usp17lc
|
UTSW |
7 |
103,067,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R7748:Usp17lc
|
UTSW |
7 |
103,067,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R8194:Usp17lc
|
UTSW |
7 |
103,067,407 (GRCm39) |
missense |
probably benign |
0.00 |
R8303:Usp17lc
|
UTSW |
7 |
103,067,389 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8815:Usp17lc
|
UTSW |
7 |
103,067,524 (GRCm39) |
missense |
probably benign |
0.01 |
R8859:Usp17lc
|
UTSW |
7 |
103,064,316 (GRCm39) |
missense |
probably benign |
0.01 |
R9023:Usp17lc
|
UTSW |
7 |
103,067,539 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9200:Usp17lc
|
UTSW |
7 |
103,068,105 (GRCm39) |
missense |
probably benign |
0.14 |
R9658:Usp17lc
|
UTSW |
7 |
103,067,389 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Posted On |
2012-04-20 |