Incidental Mutation 'R3969:Usp17lc'
| ID |
310877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp17lc
|
| Ensembl Gene |
ENSMUSG00000058976 |
| Gene Name |
ubiquitin specific peptidase 17-like C |
| Synonyms |
Dub2, Usp17l5, Dub2b, Dub-2 |
| MMRRC Submission |
040937-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3969 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103415072-103419880 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103418419 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 307
(H307L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079348]
[ENSMUST00000106892]
|
| AlphaFold |
G5E8I7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079348
AA Change: H307L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078323
Gene: ENSMUSG00000058976
AA Change: H307L
| 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 |
probably damaging
Transcript: ENSMUST00000106892
AA Change: H307L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102505
Gene: ENSMUSG00000058976
AA Change: H307L
| 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 |
0.8553 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (48/48) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
A |
G |
10: 20,959,947 (GRCm38) |
K60E |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 43,005,551 (GRCm38) |
R432L |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 134,749,756 (GRCm38) |
H109N |
possibly damaging |
Het |
| Camk2d |
G |
T |
3: 126,796,959 (GRCm38) |
C273F |
possibly damaging |
Het |
| Camk4 |
T |
A |
18: 33,179,581 (GRCm38) |
I258N |
possibly damaging |
Het |
| Chia1 |
T |
G |
3: 106,121,635 (GRCm38) |
|
probably null |
Het |
| Commd9 |
C |
A |
2: 101,897,141 (GRCm38) |
N93K |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,872,811 (GRCm38) |
I175T |
possibly damaging |
Het |
| Dnah17 |
G |
A |
11: 118,041,158 (GRCm38) |
|
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,564,022 (GRCm38) |
G144R |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,378,705 (GRCm38) |
M1K |
probably null |
Het |
| Fam196b |
A |
T |
11: 34,419,739 (GRCm38) |
Q481L |
probably damaging |
Het |
| Flna |
A |
T |
X: 74,235,667 (GRCm38) |
V1253E |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,112,423 (GRCm38) |
S396R |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,907,345 (GRCm38) |
C774S |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,311,701 (GRCm38) |
Y194C |
probably damaging |
Het |
| Irf5 |
A |
T |
6: 29,536,782 (GRCm38) |
Q497H |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,580,341 (GRCm38) |
K3230M |
probably damaging |
Het |
| Lins1 |
C |
T |
7: 66,708,198 (GRCm38) |
T27I |
probably benign |
Het |
| Ncstn |
A |
C |
1: 172,070,009 (GRCm38) |
V439G |
probably damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,255,425 (GRCm38) |
|
probably benign |
Het |
| Nol8 |
A |
T |
13: 49,660,016 (GRCm38) |
K162* |
probably null |
Het |
| Olfr836 |
A |
G |
9: 19,121,660 (GRCm38) |
E232G |
probably benign |
Het |
| Olfr921 |
A |
G |
9: 38,775,368 (GRCm38) |
T38A |
probably benign |
Het |
| Pabpc5 |
A |
G |
X: 119,928,624 (GRCm38) |
E212G |
probably benign |
Het |
| Pecr |
G |
A |
1: 72,276,309 (GRCm38) |
T94I |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,011,696 (GRCm38) |
V2776E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 70,770,421 (GRCm38) |
R452C |
probably benign |
Het |
| Pole3 |
G |
T |
4: 62,524,961 (GRCm38) |
N12K |
possibly damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,806,280 (GRCm38) |
S71G |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,686,632 (GRCm38) |
A111V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,248,270 (GRCm38) |
|
probably benign |
Het |
| Shroom3 |
T |
C |
5: 92,940,879 (GRCm38) |
V496A |
probably benign |
Het |
| Slc26a1 |
A |
G |
5: 108,673,952 (GRCm38) |
S24P |
probably benign |
Het |
| Tspoap1 |
A |
T |
11: 87,762,446 (GRCm38) |
N113Y |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 87,003,593 (GRCm38) |
W498R |
probably damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,258,385 (GRCm38) |
Q33H |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 47,856,323 (GRCm38) |
D808G |
unknown |
Het |
| Ybx2 |
G |
A |
11: 69,940,416 (GRCm38) |
R84Q |
probably damaging |
Het |
| Zfp462 |
C |
T |
4: 55,012,402 (GRCm38) |
S308F |
probably damaging |
Het |
|
| Other mutations in Usp17lc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Usp17lc
|
APN |
7 |
103,418,941 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL00499:Usp17lc
|
APN |
7 |
103,418,465 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00499:Usp17lc
|
APN |
7 |
103,418,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01446:Usp17lc
|
APN |
7 |
103,418,444 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1466:Usp17lc
|
UTSW |
7 |
103,418,941 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R1466:Usp17lc
|
UTSW |
7 |
103,418,941 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R1584:Usp17lc
|
UTSW |
7 |
103,418,941 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R1754:Usp17lc
|
UTSW |
7 |
103,418,848 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2987:Usp17lc
|
UTSW |
7 |
103,418,302 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4661:Usp17lc
|
UTSW |
7 |
103,418,590 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5118:Usp17lc
|
UTSW |
7 |
103,418,661 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5413:Usp17lc
|
UTSW |
7 |
103,418,556 (GRCm38) |
missense |
probably benign |
|
|
R6962:Usp17lc
|
UTSW |
7 |
103,418,911 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7412:Usp17lc
|
UTSW |
7 |
103,418,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7638:Usp17lc
|
UTSW |
7 |
103,418,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7748:Usp17lc
|
UTSW |
7 |
103,418,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8194:Usp17lc
|
UTSW |
7 |
103,418,200 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8303:Usp17lc
|
UTSW |
7 |
103,418,182 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8815:Usp17lc
|
UTSW |
7 |
103,418,317 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8859:Usp17lc
|
UTSW |
7 |
103,415,109 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9023:Usp17lc
|
UTSW |
7 |
103,418,332 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9200:Usp17lc
|
UTSW |
7 |
103,418,898 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9658:Usp17lc
|
UTSW |
7 |
103,418,182 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGATGCCAGCTTCCAAGAC -3'
(R):5'- GAACCTCATGTACTCTGCCC -3'
Sequencing Primer
(F):5'- CCAAAGGTACTCCTGCTAGTG -3'
(R):5'- CCCTCTGGCATGTCAATACTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation