Incidental Mutation 'R1365:Uchl3'
| ID |
156015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uchl3
|
| Ensembl Gene |
ENSMUSG00000022111 |
| Gene Name |
ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) |
| Synonyms |
|
| MMRRC Submission |
039430-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.534)
|
| Stock # |
R1365 (G1)
|
| Quality Score |
132 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
101891403-101933561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101891528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 10
(E10G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002289]
|
| AlphaFold |
Q9JKB1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002289
AA Change: E10G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002289
Gene: ENSMUSG00000022111
AA Change: E10G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C12
|
6 |
214 |
1.2e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228773
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null animals show degeneration in dorsal root ganglia. Mice display postnatal progressive retinal degeneration and muscular degeneration. In combination with a knockout of ubiquitin C-terminal hydrolase L1, neurological effects of each are accelerated, mice are dysphagic and die younger. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
G |
A |
13: 98,211,632 (GRCm39) |
T117M |
probably damaging |
Het |
| Asb15 |
T |
C |
6: 24,567,269 (GRCm39) |
I530T |
possibly damaging |
Het |
| Brca1 |
T |
C |
11: 101,392,822 (GRCm39) |
N1673S |
probably benign |
Het |
| Cd48 |
A |
T |
1: 171,527,129 (GRCm39) |
Q185L |
probably damaging |
Het |
| Cog2 |
A |
T |
8: 125,267,713 (GRCm39) |
K343I |
probably damaging |
Het |
| Dars2 |
G |
A |
1: 160,872,564 (GRCm39) |
Q546* |
probably null |
Het |
| Dst |
A |
G |
1: 34,227,275 (GRCm39) |
K1623E |
probably benign |
Het |
| Epn1 |
G |
A |
7: 5,096,369 (GRCm39) |
R221Q |
probably benign |
Het |
| Gtf2b |
T |
C |
3: 142,477,227 (GRCm39) |
I33T |
probably damaging |
Het |
| Hsf4 |
G |
T |
8: 105,997,726 (GRCm39) |
R156L |
probably damaging |
Het |
| Itch |
A |
G |
2: 155,054,951 (GRCm39) |
N752D |
probably benign |
Het |
| Kif28 |
G |
A |
1: 179,567,552 (GRCm39) |
Q73* |
probably null |
Het |
| Mamdc4 |
T |
C |
2: 25,456,036 (GRCm39) |
Y790C |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,046,821 (GRCm39) |
|
probably benign |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,438,711 (GRCm39) |
|
probably null |
Het |
| Oxct2b |
G |
A |
4: 123,011,162 (GRCm39) |
V361I |
probably benign |
Het |
| Pid1 |
T |
C |
1: 84,015,862 (GRCm39) |
M168V |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,767,852 (GRCm39) |
D419G |
probably damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Sem1 |
T |
C |
6: 6,560,501 (GRCm39) |
D26G |
possibly damaging |
Het |
| Sin3a |
C |
T |
9: 57,032,487 (GRCm39) |
R1141* |
probably null |
Het |
| Slf1 |
C |
T |
13: 77,274,490 (GRCm39) |
A68T |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,380,278 (GRCm39) |
S364P |
probably damaging |
Het |
| Usp14 |
C |
T |
18: 10,000,490 (GRCm39) |
|
probably null |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,756 (GRCm39) |
M179K |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,596,810 (GRCm39) |
Y3103H |
probably damaging |
Het |
| Zfp804a |
T |
C |
2: 82,087,590 (GRCm39) |
L473P |
probably benign |
Het |
| Zfp979 |
A |
T |
4: 147,697,681 (GRCm39) |
Y343N |
probably benign |
Het |
|
| Other mutations in Uchl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
elohim
|
UTSW |
14 |
101,903,240 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0507:Uchl3
|
UTSW |
14 |
101,904,443 (GRCm39) |
nonsense |
probably null |
|
|
R0992:Uchl3
|
UTSW |
14 |
101,905,969 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2213:Uchl3
|
UTSW |
14 |
101,904,106 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2875:Uchl3
|
UTSW |
14 |
101,905,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5027:Uchl3
|
UTSW |
14 |
101,903,982 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5186:Uchl3
|
UTSW |
14 |
101,933,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Uchl3
|
UTSW |
14 |
101,928,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7039:Uchl3
|
UTSW |
14 |
101,923,128 (GRCm39) |
intron |
probably benign |
|
|
R8308:Uchl3
|
UTSW |
14 |
101,932,655 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9020:Uchl3
|
UTSW |
14 |
101,903,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9274:Uchl3
|
UTSW |
14 |
101,903,240 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9275:Uchl3
|
UTSW |
14 |
101,905,963 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9464:Uchl3
|
UTSW |
14 |
101,904,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTCCGTAGGGAGAGATCAAGC -3'
(R):5'- TCACCTTAGAAGGGACAGGGTCAAG -3'
Sequencing Primer
(F):5'- AGATCAAGCGTCTTGGGGG -3'
(R):5'- GAGGGGCTACCAAACCTCAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation