Incidental Mutation 'IGL00721:Usp49'
| ID |
11950 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp49
|
| Ensembl Gene |
ENSMUSG00000090115 |
| Gene Name |
ubiquitin specific peptidase 49 |
| Synonyms |
C330046L10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
IGL00721
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
47941615-47997663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47991628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 630
(D630G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024779]
[ENSMUST00000132397]
[ENSMUST00000152724]
|
| AlphaFold |
Q6P9L4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024779
AA Change: D630G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024779
Gene: ENSMUSG00000090115
AA Change: D630G
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_UBP
|
25 |
74 |
4.21e-17 |
SMART |
|
coiled coil region
|
165 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
249 |
651 |
5.4e-61 |
PFAM |
|
Pfam:UCH_1
|
337 |
633 |
3.8e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131550
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132397
|
| SMART Domains |
Protein: ENSMUSP00000117658
Gene: ENSMUSG00000023984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med20
|
1 |
149 |
1.6e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152724
AA Change: T364A
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120034
Gene: ENSMUSG00000090115
AA Change: T364A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
33 |
374 |
2.5e-40 |
PFAM |
|
Pfam:UCH_1
|
119 |
374 |
1.5e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 9 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp1 |
A |
T |
3: 37,084,900 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
C |
T |
15: 71,718,026 (GRCm39) |
G633E |
unknown |
Het |
| Kcnh5 |
G |
A |
12: 75,054,450 (GRCm39) |
P498L |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,374,498 (GRCm39) |
V1879A |
probably benign |
Het |
| Rif1 |
T |
C |
2: 52,009,129 (GRCm39) |
S2303P |
probably damaging |
Het |
| Sis |
G |
T |
3: 72,850,912 (GRCm39) |
N595K |
probably damaging |
Het |
| Tfpi2 |
T |
C |
6: 3,963,414 (GRCm39) |
D220G |
probably benign |
Het |
| Ttc21b |
A |
C |
2: 66,057,122 (GRCm39) |
S617A |
probably benign |
Het |
| Ttk |
T |
C |
9: 83,745,501 (GRCm39) |
I616T |
probably damaging |
Het |
|
| Other mutations in Usp49 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0605:Usp49
|
UTSW |
17 |
47,985,851 (GRCm39) |
splice site |
probably null |
|
|
R0919:Usp49
|
UTSW |
17 |
47,983,376 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1167:Usp49
|
UTSW |
17 |
47,983,151 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1675:Usp49
|
UTSW |
17 |
47,984,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1733:Usp49
|
UTSW |
17 |
47,983,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2344:Usp49
|
UTSW |
17 |
47,983,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3737:Usp49
|
UTSW |
17 |
47,983,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4078:Usp49
|
UTSW |
17 |
47,985,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5079:Usp49
|
UTSW |
17 |
47,984,146 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6197:Usp49
|
UTSW |
17 |
47,984,272 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6244:Usp49
|
UTSW |
17 |
47,983,827 (GRCm39) |
nonsense |
probably null |
|
|
R6303:Usp49
|
UTSW |
17 |
47,991,747 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6536:Usp49
|
UTSW |
17 |
47,990,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7207:Usp49
|
UTSW |
17 |
47,989,802 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7304:Usp49
|
UTSW |
17 |
47,983,796 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7418:Usp49
|
UTSW |
17 |
47,983,093 (GRCm39) |
nonsense |
probably null |
|
|
R7508:Usp49
|
UTSW |
17 |
47,983,205 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7648:Usp49
|
UTSW |
17 |
47,985,753 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7705:Usp49
|
UTSW |
17 |
47,989,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8529:Usp49
|
UTSW |
17 |
47,983,037 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9081:Usp49
|
UTSW |
17 |
47,984,236 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2012-12-06 |
Incidental Mutation