Incidental Mutation 'R2344:Usp49'
| ID |
245941 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2344 (G1)
|
| Quality Score |
187 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
47941615-47997663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47983828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 278
(F278L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024779]
[ENSMUST00000132397]
[ENSMUST00000145314]
[ENSMUST00000152724]
|
| AlphaFold |
Q6P9L4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024779
AA Change: F278L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024779
Gene: ENSMUSG00000090115
AA Change: F278L
| 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: ENSMUST00000145314
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152724
AA Change: F62L
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120034
Gene: ENSMUSG00000090115
AA Change: F62L
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
A |
G |
13: 14,328,075 (GRCm39) |
Q247R |
probably benign |
Het |
| Bend7 |
A |
T |
2: 4,793,345 (GRCm39) |
D383V |
probably damaging |
Het |
| Calm4 |
A |
G |
13: 3,888,298 (GRCm39) |
K135E |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,152,503 (GRCm39) |
D2412G |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,805,736 (GRCm39) |
T1057A |
unknown |
Het |
| Dpf3 |
T |
G |
12: 83,397,594 (GRCm39) |
D90A |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,280,490 (GRCm39) |
M348K |
probably benign |
Het |
| Elmo3 |
T |
C |
8: 106,035,793 (GRCm39) |
Y558H |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,472,746 (GRCm39) |
V79I |
possibly damaging |
Het |
| Ercc5 |
T |
C |
1: 44,206,329 (GRCm39) |
M414T |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,094,318 (GRCm39) |
I389M |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,820,257 (GRCm39) |
F5330S |
possibly damaging |
Het |
| Grin2a |
T |
C |
16: 9,481,099 (GRCm39) |
I533V |
probably benign |
Het |
| Gsdma2 |
T |
C |
11: 98,546,417 (GRCm39) |
L167P |
probably damaging |
Het |
| Gys2 |
A |
T |
6: 142,391,748 (GRCm39) |
F505I |
probably damaging |
Het |
| Il6 |
A |
T |
5: 30,219,854 (GRCm39) |
M77L |
probably benign |
Het |
| Or6c76b |
A |
T |
10: 129,692,410 (GRCm39) |
T8S |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,909,115 (GRCm39) |
I194V |
probably damaging |
Het |
| Rbpjl |
G |
T |
2: 164,256,312 (GRCm39) |
V433L |
probably damaging |
Het |
| Rps10 |
C |
G |
17: 27,853,081 (GRCm39) |
R96P |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,415,575 (GRCm39) |
T387A |
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,036,414 (GRCm39) |
T298M |
probably benign |
Het |
| Zfp729b |
A |
G |
13: 67,740,352 (GRCm39) |
C648R |
probably damaging |
Het |
|
| Other mutations in Usp49 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00721:Usp49
|
APN |
17 |
47,991,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGTTCCAGAAGAGCTCC -3'
(R):5'- GTTCTGAATGAGCTCCAGGC -3'
Sequencing Primer
(F):5'- TGGAGGAGCTGGCCAGTG -3'
(R):5'- TCCAGGCTCCTGCTGATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation