Incidental Mutation 'R6579:Uchl5'
ID |
523906 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uchl5
|
Ensembl Gene |
ENSMUSG00000018189 |
Gene Name |
ubiquitin carboxyl-terminal esterase L5 |
Synonyms |
Uch37, 5830413B11Rik |
MMRRC Submission |
044703-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6579 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
143653010-143683204 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 143674130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 211
(Y211N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140106
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018333]
[ENSMUST00000185493]
[ENSMUST00000185539]
[ENSMUST00000189936]
|
AlphaFold |
Q9WUP7 |
PDB Structure |
Crystal structure of mUCH37-hRPN13 CTD complex [X-RAY DIFFRACTION]
Crystal Structure of mUCH37-hRPN13 CTD-hUb complex [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018333
AA Change: Y211N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000018333 Gene: ENSMUSG00000018189 AA Change: Y211N
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C12
|
8 |
209 |
3.7e-73 |
PFAM |
low complexity region
|
314 |
329 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000185493
AA Change: Y169N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139668 Gene: ENSMUSG00000018189 AA Change: Y169N
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C12
|
7 |
85 |
3e-20 |
PFAM |
Pfam:Peptidase_C12
|
66 |
169 |
3.4e-29 |
PFAM |
coiled coil region
|
177 |
204 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000185539
AA Change: Y54N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140681 Gene: ENSMUSG00000018189 AA Change: Y54N
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C12
|
1 |
54 |
2e-19 |
PFAM |
coiled coil region
|
62 |
89 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189936
AA Change: Y211N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140106 Gene: ENSMUSG00000018189 AA Change: Y211N
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C12
|
7 |
211 |
1.2e-75 |
PFAM |
low complexity region
|
314 |
329 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190258
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191512
|
Meta Mutation Damage Score |
0.4609 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
100% (36/36) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality associated with abnormal brain development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
T |
9: 57,161,507 (GRCm39) |
V80D |
possibly damaging |
Het |
6330409D20Rik |
T |
C |
2: 32,630,663 (GRCm39) |
|
probably benign |
Het |
Adam15 |
C |
T |
3: 89,252,936 (GRCm39) |
V261M |
probably damaging |
Het |
Adam29 |
G |
T |
8: 56,325,779 (GRCm39) |
T225K |
probably damaging |
Het |
Ankrd52 |
A |
G |
10: 128,223,011 (GRCm39) |
T654A |
probably damaging |
Het |
AU021092 |
T |
A |
16: 5,040,020 (GRCm39) |
I35F |
probably damaging |
Het |
Cdk20 |
G |
T |
13: 64,584,348 (GRCm39) |
Q114H |
probably benign |
Het |
Col22a1 |
A |
C |
15: 71,753,502 (GRCm39) |
S133A |
probably benign |
Het |
Cyp3a44 |
A |
T |
5: 145,727,516 (GRCm39) |
F271Y |
probably damaging |
Het |
Dchs1 |
A |
T |
7: 105,412,120 (GRCm39) |
V1332E |
probably benign |
Het |
Dhrs7l |
A |
T |
12: 72,668,658 (GRCm39) |
D117E |
probably benign |
Het |
Dnai7 |
A |
T |
6: 145,124,744 (GRCm39) |
M527K |
probably benign |
Het |
Dnajc5 |
A |
G |
2: 181,189,209 (GRCm39) |
N62D |
possibly damaging |
Het |
Gm3045 |
C |
T |
13: 56,578,103 (GRCm39) |
S180L |
probably damaging |
Het |
Hycc1 |
A |
T |
5: 24,171,381 (GRCm39) |
V347D |
possibly damaging |
Het |
Igkv14-130 |
T |
A |
6: 67,768,421 (GRCm39) |
Y93* |
probably null |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nell2 |
A |
T |
15: 95,282,957 (GRCm39) |
Y362N |
possibly damaging |
Het |
Or5an1c |
C |
T |
19: 12,218,726 (GRCm39) |
V100I |
probably benign |
Het |
Peli1 |
A |
T |
11: 21,097,059 (GRCm39) |
T150S |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,271,047 (GRCm39) |
T3169A |
probably benign |
Het |
Polr2m |
T |
A |
9: 71,393,002 (GRCm39) |
E26V |
probably damaging |
Het |
Rhbdf2 |
A |
G |
11: 116,495,289 (GRCm39) |
V238A |
probably benign |
Het |
Rims1 |
G |
T |
1: 22,496,166 (GRCm39) |
P820H |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,327,106 (GRCm39) |
T1698A |
probably damaging |
Het |
Scgn |
C |
T |
13: 24,143,717 (GRCm39) |
A216T |
probably damaging |
Het |
Serpina11 |
T |
A |
12: 103,951,007 (GRCm39) |
D238V |
probably damaging |
Het |
Setd2 |
A |
T |
9: 110,378,846 (GRCm39) |
E887V |
possibly damaging |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Trak1 |
C |
A |
9: 121,272,704 (GRCm39) |
N197K |
probably benign |
Het |
Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
Usf3 |
T |
A |
16: 44,039,197 (GRCm39) |
S1226T |
possibly damaging |
Het |
Utrn |
T |
C |
10: 12,623,750 (GRCm39) |
T163A |
probably benign |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
Zcchc14 |
T |
C |
8: 122,331,206 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Uchl5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01985:Uchl5
|
APN |
1 |
143,661,864 (GRCm39) |
splice site |
probably benign |
|
IGL02084:Uchl5
|
APN |
1 |
143,677,912 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03387:Uchl5
|
APN |
1 |
143,677,940 (GRCm39) |
missense |
probably benign |
0.38 |
R0530:Uchl5
|
UTSW |
1 |
143,670,082 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1495:Uchl5
|
UTSW |
1 |
143,675,675 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1521:Uchl5
|
UTSW |
1 |
143,674,160 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4534:Uchl5
|
UTSW |
1 |
143,661,954 (GRCm39) |
missense |
probably benign |
0.35 |
R7383:Uchl5
|
UTSW |
1 |
143,659,753 (GRCm39) |
missense |
probably benign |
0.00 |
R7405:Uchl5
|
UTSW |
1 |
143,675,752 (GRCm39) |
nonsense |
probably null |
|
R7414:Uchl5
|
UTSW |
1 |
143,682,433 (GRCm39) |
missense |
unknown |
|
R7731:Uchl5
|
UTSW |
1 |
143,670,275 (GRCm39) |
missense |
|
|
R8834:Uchl5
|
UTSW |
1 |
143,661,968 (GRCm39) |
nonsense |
probably null |
|
R9690:Uchl5
|
UTSW |
1 |
143,670,016 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- GGACCATTTAAAGTACTTGCAGTTG -3'
(R):5'- GCAGTGTGTGATAGAACAAGATACTAC -3'
Sequencing Primer
(F):5'- GCCCTTTCATATACAAAACCT -3'
(R):5'- GATACTACATAGCCTCCTCCAGC -3'
|
Posted On |
2018-06-22 |