Incidental Mutation 'R7598:Usp5'
| ID |
587836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp5
|
| Ensembl Gene |
ENSMUSG00000038429 |
| Gene Name |
ubiquitin specific peptidase 5 (isopeptidase T) |
| Synonyms |
Ucht |
| MMRRC Submission |
045641-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7598 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124791982-124806404 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124803342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 53
(F53I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024270]
[ENSMUST00000047510]
[ENSMUST00000122110]
[ENSMUST00000131847]
[ENSMUST00000142058]
[ENSMUST00000150120]
[ENSMUST00000151674]
[ENSMUST00000153306]
|
| AlphaFold |
P56399 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024270
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047510
AA Change: F53I
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
AA Change: F53I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Blast:ZnF_UBP
|
29 |
78 |
4e-19 |
BLAST |
|
ZnF_UBP
|
198 |
253 |
6.47e-27 |
SMART |
|
low complexity region
|
497 |
516 |
N/A |
INTRINSIC |
|
UBA
|
656 |
694 |
3.12e-7 |
SMART |
|
UBA
|
724 |
761 |
8.63e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122110
AA Change: F53I
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
AA Change: F53I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Blast:ZnF_UBP
|
29 |
78 |
4e-19 |
BLAST |
|
ZnF_UBP
|
198 |
253 |
6.47e-27 |
SMART |
|
low complexity region
|
497 |
516 |
N/A |
INTRINSIC |
|
UBA
|
633 |
671 |
3.12e-7 |
SMART |
|
UBA
|
701 |
738 |
8.63e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131847
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000117439
Gene: ENSMUSG00000038429
AA Change: F53I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Blast:ZnF_UBP
|
29 |
78 |
4e-20 |
BLAST |
|
ZnF_UBP
|
180 |
235 |
6.47e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151674
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153306
AA Change: F7I
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118200
Gene: ENSMUSG00000038429
AA Change: F7I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_UBP
|
1 |
32 |
3e-7 |
BLAST |
|
ZnF_UBP
|
152 |
207 |
6.47e-27 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and degradation of abnormal proteins. A late step of the process involves disassembly of the polyubiquitin chains on degraded proteins into ubiquitin monomers. USP5 disassembles branched polyubiquitin chains by a sequential exo mechanism, starting at the proximal end of the chain (Wilkinson et al., 1995 [PubMed 7578059]).[supplied by OMIM, Mar 2010]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
T |
C |
2: 150,480,370 (GRCm39) |
S234G |
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,370,077 (GRCm39) |
N176K |
possibly damaging |
Het |
| AI661453 |
T |
C |
17: 47,777,045 (GRCm39) |
V257A |
unknown |
Het |
| Alpk2 |
T |
A |
18: 65,437,637 (GRCm39) |
K1252M |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,767,445 (GRCm39) |
T159A |
possibly damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,576,308 (GRCm39) |
N447S |
probably benign |
Het |
| Apoc4 |
A |
G |
7: 19,415,265 (GRCm39) |
V14A |
probably benign |
Het |
| Arfgef2 |
A |
C |
2: 166,698,444 (GRCm39) |
Q638P |
probably benign |
Het |
| Arhgap20 |
C |
A |
9: 51,761,090 (GRCm39) |
F980L |
possibly damaging |
Het |
| Arhgap27 |
G |
A |
11: 103,224,879 (GRCm39) |
R459* |
probably null |
Het |
| Arhgef15 |
A |
T |
11: 68,837,236 (GRCm39) |
L785Q |
probably damaging |
Het |
| B3gnt7 |
T |
C |
1: 86,233,500 (GRCm39) |
F249L |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,278 (GRCm39) |
E233G |
possibly damaging |
Het |
| Ccdc122 |
C |
A |
14: 77,349,006 (GRCm39) |
Q279K |
probably benign |
Het |
| Cilp2 |
A |
G |
8: 70,338,682 (GRCm39) |
C134R |
probably benign |
Het |
| Clec4b1 |
G |
A |
6: 123,048,427 (GRCm39) |
W187* |
probably null |
Het |
| Ddx11 |
G |
A |
17: 66,437,541 (GRCm39) |
|
probably null |
Het |
| Dhrs7c |
A |
T |
11: 67,702,279 (GRCm39) |
|
probably null |
Het |
| Eif4g3 |
T |
A |
4: 137,921,435 (GRCm39) |
H1387Q |
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,772,235 (GRCm39) |
N148S |
probably damaging |
Het |
| Hs6st3 |
T |
A |
14: 120,106,750 (GRCm39) |
V386E |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,639,334 (GRCm39) |
R413Q |
possibly damaging |
Het |
| Kcnj4 |
T |
C |
15: 79,369,965 (GRCm39) |
N5S |
probably benign |
Het |
| Klhl18 |
A |
T |
9: 110,275,878 (GRCm39) |
L155* |
probably null |
Het |
| Lima1 |
G |
A |
15: 99,717,577 (GRCm39) |
P143L |
probably benign |
Het |
| Lzts2 |
G |
T |
19: 45,012,272 (GRCm39) |
G234* |
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,871,412 (GRCm39) |
F503L |
possibly damaging |
Het |
| Men1 |
A |
T |
19: 6,389,735 (GRCm39) |
I463L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,999 (GRCm39) |
T1982A |
unknown |
Het |
| Myo18a |
A |
T |
11: 77,738,172 (GRCm39) |
T1705S |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,372,977 (GRCm39) |
S1090G |
probably benign |
Het |
| Or2b7 |
T |
C |
13: 21,739,358 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or8k28 |
C |
A |
2: 86,286,234 (GRCm39) |
C127F |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,475,833 (GRCm39) |
F323S |
probably damaging |
Het |
| Pde11a |
T |
A |
2: 75,966,767 (GRCm39) |
T561S |
probably damaging |
Het |
| Phip |
A |
C |
9: 82,787,711 (GRCm39) |
S817R |
possibly damaging |
Het |
| Phxr2 |
T |
A |
10: 98,961,941 (GRCm39) |
M40L |
unknown |
Het |
| Pip4k2a |
T |
A |
2: 18,877,098 (GRCm39) |
L212F |
possibly damaging |
Het |
| Proc |
T |
A |
18: 32,268,929 (GRCm39) |
I19L |
probably benign |
Het |
| Rbm4 |
T |
C |
19: 4,842,539 (GRCm39) |
E100G |
possibly damaging |
Het |
| Rhobtb3 |
T |
C |
13: 76,059,021 (GRCm39) |
Y259C |
probably benign |
Het |
| Rtkn |
A |
G |
6: 83,124,884 (GRCm39) |
D168G |
probably null |
Het |
| Sdk1 |
T |
G |
5: 141,595,753 (GRCm39) |
Y136* |
probably null |
Het |
| Slk |
G |
A |
19: 47,624,901 (GRCm39) |
E1041K |
probably damaging |
Het |
| Smok2b |
A |
T |
17: 13,454,973 (GRCm39) |
R378* |
probably null |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Spag16 |
T |
C |
1: 69,909,467 (GRCm39) |
F188S |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,838 (GRCm39) |
C198R |
probably damaging |
Het |
| Tor1a |
A |
C |
2: 30,857,796 (GRCm39) |
I24S |
probably benign |
Het |
| Unc13b |
C |
A |
4: 43,263,569 (GRCm39) |
T1598K |
probably benign |
Het |
| Uncx |
G |
A |
5: 139,529,809 (GRCm39) |
V21M |
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Zfp654 |
T |
A |
16: 64,606,297 (GRCm39) |
E94V |
possibly damaging |
Het |
| Zfp689 |
A |
G |
7: 127,047,840 (GRCm39) |
L64P |
probably benign |
Het |
| Zfyve28 |
A |
C |
5: 34,393,461 (GRCm39) |
N68K |
probably damaging |
Het |
|
| Other mutations in Usp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Usp5
|
APN |
6 |
124,806,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00905:Usp5
|
APN |
6 |
124,792,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01584:Usp5
|
APN |
6 |
124,796,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01642:Usp5
|
APN |
6 |
124,797,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01787:Usp5
|
APN |
6 |
124,801,189 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02394:Usp5
|
APN |
6 |
124,799,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02677:Usp5
|
APN |
6 |
124,796,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03392:Usp5
|
APN |
6 |
124,803,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:Usp5
|
UTSW |
6 |
124,801,192 (GRCm39) |
missense |
probably benign |
0.06 |
|
BB014:Usp5
|
UTSW |
6 |
124,801,192 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0594:Usp5
|
UTSW |
6 |
124,794,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1522:Usp5
|
UTSW |
6 |
124,802,129 (GRCm39) |
missense |
probably benign |
|
|
R1719:Usp5
|
UTSW |
6 |
124,800,423 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2185:Usp5
|
UTSW |
6 |
124,794,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3115:Usp5
|
UTSW |
6 |
124,792,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4196:Usp5
|
UTSW |
6 |
124,801,901 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4347:Usp5
|
UTSW |
6 |
124,798,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4386:Usp5
|
UTSW |
6 |
124,795,437 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4500:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4501:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4526:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4527:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4528:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4684:Usp5
|
UTSW |
6 |
124,794,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4912:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4913:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4954:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4956:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4957:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4958:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5071:Usp5
|
UTSW |
6 |
124,803,342 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6020:Usp5
|
UTSW |
6 |
124,794,576 (GRCm39) |
unclassified |
probably benign |
|
|
R6236:Usp5
|
UTSW |
6 |
124,795,441 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6370:Usp5
|
UTSW |
6 |
124,797,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7090:Usp5
|
UTSW |
6 |
124,806,357 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7317:Usp5
|
UTSW |
6 |
124,803,281 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7447:Usp5
|
UTSW |
6 |
124,798,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7572:Usp5
|
UTSW |
6 |
124,794,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7927:Usp5
|
UTSW |
6 |
124,801,192 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7931:Usp5
|
UTSW |
6 |
124,801,409 (GRCm39) |
intron |
probably benign |
|
|
R8089:Usp5
|
UTSW |
6 |
124,797,373 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8361:Usp5
|
UTSW |
6 |
124,801,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Usp5
|
UTSW |
6 |
124,800,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Usp5
|
UTSW |
6 |
124,794,394 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9115:Usp5
|
UTSW |
6 |
124,803,384 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9128:Usp5
|
UTSW |
6 |
124,800,414 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9227:Usp5
|
UTSW |
6 |
124,795,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9651:Usp5
|
UTSW |
6 |
124,799,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0058:Usp5
|
UTSW |
6 |
124,801,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Usp5
|
UTSW |
6 |
124,802,111 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAATGATGTCCCCACCCAC -3'
(R):5'- CCAAAGGCTACATAAGTTGCTAAGA -3'
Sequencing Primer
(F):5'- TCTATAAGGTTGAGCCAGCCG -3'
(R):5'- GCTACATAAGTTGCTAAGAGCTGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation