Incidental Mutation 'R1725:Usp48'
ID |
198057 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp48
|
Ensembl Gene |
ENSMUSG00000043411 |
Gene Name |
ubiquitin specific peptidase 48 |
Synonyms |
Usp31, 2810449C13Rik, D330022K21Rik |
MMRRC Submission |
039757-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.953)
|
Stock # |
R1725 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
137321079-137385842 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 137360733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 20
(L20*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055131]
[ENSMUST00000105840]
[ENSMUST00000141628]
|
AlphaFold |
Q3V0C5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000055131
AA Change: L722*
|
SMART Domains |
Protein: ENSMUSP00000055016 Gene: ENSMUSG00000043411 AA Change: L722*
Domain | Start | End | E-Value | Type |
Pfam:UCH
|
88 |
417 |
6.9e-44 |
PFAM |
Pfam:UCH_1
|
89 |
374 |
1e-22 |
PFAM |
Blast:DUSP
|
479 |
555 |
5e-39 |
BLAST |
coiled coil region
|
622 |
643 |
N/A |
INTRINSIC |
UBQ
|
954 |
1022 |
4.78e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000105840
AA Change: L724*
|
SMART Domains |
Protein: ENSMUSP00000101466 Gene: ENSMUSG00000043411 AA Change: L724*
Domain | Start | End | E-Value | Type |
Pfam:UCH
|
88 |
418 |
6.4e-49 |
PFAM |
Pfam:UCH_1
|
89 |
374 |
1.8e-27 |
PFAM |
Blast:DUSP
|
480 |
556 |
4e-39 |
BLAST |
coiled coil region
|
624 |
645 |
N/A |
INTRINSIC |
Blast:DUSP
|
743 |
824 |
2e-7 |
BLAST |
UBQ
|
938 |
1006 |
4.78e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000128065
AA Change: L141*
|
SMART Domains |
Protein: ENSMUSP00000115533 Gene: ENSMUSG00000043411 AA Change: L141*
Domain | Start | End | E-Value | Type |
Blast:DUSP
|
9 |
111 |
2e-13 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000131755
|
Predicted Effect |
probably null
Transcript: ENSMUST00000141426
AA Change: L20*
|
SMART Domains |
Protein: ENSMUSP00000118084 Gene: ENSMUSG00000043411 AA Change: L20*
Domain | Start | End | E-Value | Type |
UBQ
|
63 |
131 |
4.78e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141628
|
SMART Domains |
Protein: ENSMUSP00000119691 Gene: ENSMUSG00000043411
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
UBQ
|
185 |
253 |
4.78e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152985
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154395
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
A |
T |
16: 88,424,163 (GRCm39) |
F109L |
probably benign |
Het |
Aacs |
T |
C |
5: 125,559,999 (GRCm39) |
|
probably null |
Het |
Abcc6 |
C |
A |
7: 45,641,781 (GRCm39) |
D866Y |
possibly damaging |
Het |
Acox3 |
T |
C |
5: 35,749,516 (GRCm39) |
Y214H |
probably benign |
Het |
Acss2 |
A |
G |
2: 155,398,764 (GRCm39) |
T404A |
possibly damaging |
Het |
Adgrb3 |
T |
A |
1: 25,865,381 (GRCm39) |
E154V |
probably damaging |
Het |
Akap12 |
G |
A |
10: 4,303,942 (GRCm39) |
V251M |
probably damaging |
Het |
Ambp |
A |
T |
4: 63,062,513 (GRCm39) |
M242K |
possibly damaging |
Het |
Angptl7 |
T |
G |
4: 148,584,469 (GRCm39) |
Y93S |
probably damaging |
Het |
Apof |
A |
G |
10: 128,105,680 (GRCm39) |
|
probably benign |
Het |
Arv1 |
T |
C |
8: 125,455,191 (GRCm39) |
F135L |
probably damaging |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
Cacna1s |
C |
T |
1: 136,026,361 (GRCm39) |
T1116I |
probably damaging |
Het |
Ccdc91 |
A |
G |
6: 147,493,541 (GRCm39) |
E311G |
unknown |
Het |
Cenpf |
T |
C |
1: 189,412,676 (GRCm39) |
T196A |
probably damaging |
Het |
Chd8 |
A |
T |
14: 52,470,030 (GRCm39) |
S527T |
probably benign |
Het |
Csmd3 |
A |
C |
15: 47,460,203 (GRCm39) |
N3529K |
probably damaging |
Het |
Csnk2a1 |
T |
C |
2: 152,099,892 (GRCm39) |
V116A |
probably damaging |
Het |
Dhx36 |
T |
G |
3: 62,414,360 (GRCm39) |
M1L |
probably benign |
Het |
Diaph3 |
A |
G |
14: 87,203,759 (GRCm39) |
|
probably null |
Het |
Ephb2 |
G |
A |
4: 136,387,089 (GRCm39) |
Q714* |
probably null |
Het |
Eprs1 |
T |
A |
1: 185,139,189 (GRCm39) |
L858Q |
probably damaging |
Het |
Espl1 |
G |
T |
15: 102,221,656 (GRCm39) |
V982L |
probably benign |
Het |
Eya2 |
A |
G |
2: 165,566,605 (GRCm39) |
T219A |
probably benign |
Het |
Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
Fbxl18 |
C |
T |
5: 142,872,458 (GRCm39) |
R259H |
probably damaging |
Het |
Gcc2 |
G |
A |
10: 58,139,937 (GRCm39) |
R1629H |
possibly damaging |
Het |
Gje1 |
G |
A |
10: 14,592,168 (GRCm39) |
R205* |
probably null |
Het |
Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
Kmt2d |
T |
C |
15: 98,743,115 (GRCm39) |
|
probably benign |
Het |
Krt6a |
A |
T |
15: 101,600,992 (GRCm39) |
M268K |
probably damaging |
Het |
Loxhd1 |
T |
A |
18: 77,380,937 (GRCm39) |
S85T |
probably benign |
Het |
Loxl3 |
G |
A |
6: 83,012,574 (GRCm39) |
V38I |
probably benign |
Het |
Mill2 |
A |
G |
7: 18,573,993 (GRCm39) |
D26G |
probably benign |
Het |
Muc15 |
T |
C |
2: 110,561,591 (GRCm39) |
L9S |
probably damaging |
Het |
Nat8f4 |
G |
A |
6: 85,878,080 (GRCm39) |
R148* |
probably null |
Het |
Nav3 |
A |
T |
10: 109,659,451 (GRCm39) |
V722E |
probably damaging |
Het |
Nfkb1 |
C |
A |
3: 135,373,519 (GRCm39) |
G10W |
probably damaging |
Het |
Or10j5 |
C |
T |
1: 172,784,908 (GRCm39) |
P182L |
possibly damaging |
Het |
Or2ag1 |
A |
T |
7: 106,313,265 (GRCm39) |
F208I |
probably benign |
Het |
Or2t1 |
T |
G |
14: 14,328,977 (GRCm38) |
Y289D |
probably damaging |
Het |
Or5b120 |
T |
C |
19: 13,479,883 (GRCm39) |
Y59H |
probably damaging |
Het |
Pcdhb22 |
T |
A |
18: 37,653,241 (GRCm39) |
C313S |
probably benign |
Het |
Plin4 |
A |
G |
17: 56,413,473 (GRCm39) |
L384P |
probably damaging |
Het |
Pm20d1 |
T |
C |
1: 131,743,796 (GRCm39) |
I487T |
probably damaging |
Het |
Prex1 |
A |
T |
2: 166,443,656 (GRCm39) |
D334E |
probably damaging |
Het |
Psg28 |
A |
T |
7: 18,161,936 (GRCm39) |
I189N |
possibly damaging |
Het |
Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
Rae1 |
A |
G |
2: 172,848,754 (GRCm39) |
I123M |
possibly damaging |
Het |
Sh3glb2 |
C |
A |
2: 30,240,679 (GRCm39) |
E129* |
probably null |
Het |
Simc1 |
T |
C |
13: 54,674,219 (GRCm39) |
S856P |
probably damaging |
Het |
Slc19a1 |
T |
A |
10: 76,877,672 (GRCm39) |
M69K |
probably benign |
Het |
Slc30a8 |
A |
T |
15: 52,197,000 (GRCm39) |
I304F |
possibly damaging |
Het |
Snx1 |
A |
G |
9: 66,005,611 (GRCm39) |
|
probably null |
Het |
Spmip5 |
T |
G |
19: 58,781,194 (GRCm39) |
K10T |
probably benign |
Het |
Stx18 |
G |
A |
5: 38,292,599 (GRCm39) |
V234M |
probably damaging |
Het |
Sulf2 |
T |
C |
2: 165,923,281 (GRCm39) |
T615A |
probably damaging |
Het |
Sult3a2 |
T |
A |
10: 33,655,705 (GRCm39) |
K91N |
probably benign |
Het |
Tet1 |
A |
G |
10: 62,650,256 (GRCm39) |
S22P |
probably damaging |
Het |
Tmc3 |
T |
C |
7: 83,253,940 (GRCm39) |
V362A |
probably damaging |
Het |
Trim16 |
A |
C |
11: 62,711,331 (GRCm39) |
M1L |
possibly damaging |
Het |
Trp53bp1 |
C |
T |
2: 121,082,481 (GRCm39) |
V10I |
possibly damaging |
Het |
Ttc12 |
T |
G |
9: 49,369,415 (GRCm39) |
D235A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,692,727 (GRCm39) |
R452G |
possibly damaging |
Het |
Ugt2b38 |
A |
T |
5: 87,559,730 (GRCm39) |
H387Q |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,539,263 (GRCm39) |
D1918G |
probably damaging |
Het |
Vmn1r158 |
A |
G |
7: 22,490,072 (GRCm39) |
S46P |
probably benign |
Het |
Vmn2r97 |
T |
A |
17: 19,149,397 (GRCm39) |
W262R |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,869,830 (GRCm39) |
S1917T |
possibly damaging |
Het |
Vsx1 |
T |
C |
2: 150,528,120 (GRCm39) |
N158D |
probably benign |
Het |
Vwf |
G |
A |
6: 125,623,245 (GRCm39) |
V1781I |
probably benign |
Het |
Wrap73 |
T |
C |
4: 154,233,209 (GRCm39) |
Y128H |
possibly damaging |
Het |
Zfp472 |
A |
G |
17: 33,196,311 (GRCm39) |
K129E |
possibly damaging |
Het |
Zscan18 |
A |
T |
7: 12,504,784 (GRCm39) |
L611Q |
probably damaging |
Het |
|
Other mutations in Usp48 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01691:Usp48
|
APN |
4 |
137,350,583 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01864:Usp48
|
APN |
4 |
137,366,538 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02386:Usp48
|
APN |
4 |
137,331,834 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03112:Usp48
|
APN |
4 |
137,335,375 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03114:Usp48
|
APN |
4 |
137,383,436 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03406:Usp48
|
APN |
4 |
137,366,606 (GRCm39) |
missense |
possibly damaging |
0.90 |
balfour
|
UTSW |
4 |
137,360,766 (GRCm39) |
missense |
probably benign |
0.00 |
burlap
|
UTSW |
4 |
137,352,587 (GRCm39) |
missense |
possibly damaging |
0.77 |
fulfillment
|
UTSW |
4 |
137,365,544 (GRCm39) |
missense |
probably damaging |
1.00 |
hayao
|
UTSW |
4 |
137,360,750 (GRCm39) |
nonsense |
probably null |
|
Mei
|
UTSW |
4 |
137,334,004 (GRCm39) |
nonsense |
probably null |
|
miyazaki
|
UTSW |
4 |
137,335,465 (GRCm39) |
missense |
probably damaging |
1.00 |
promise
|
UTSW |
4 |
137,362,232 (GRCm39) |
missense |
probably damaging |
1.00 |
satsuki
|
UTSW |
4 |
137,360,437 (GRCm39) |
missense |
possibly damaging |
0.93 |
Totoro
|
UTSW |
4 |
137,321,794 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02796:Usp48
|
UTSW |
4 |
137,338,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R0050:Usp48
|
UTSW |
4 |
137,341,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R0333:Usp48
|
UTSW |
4 |
137,321,794 (GRCm39) |
missense |
probably damaging |
0.99 |
R0382:Usp48
|
UTSW |
4 |
137,348,529 (GRCm39) |
missense |
probably benign |
0.00 |
R0423:Usp48
|
UTSW |
4 |
137,343,722 (GRCm39) |
missense |
probably benign |
|
R0570:Usp48
|
UTSW |
4 |
137,360,437 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0855:Usp48
|
UTSW |
4 |
137,335,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R0943:Usp48
|
UTSW |
4 |
137,371,781 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1367:Usp48
|
UTSW |
4 |
137,371,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R1367:Usp48
|
UTSW |
4 |
137,366,606 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1689:Usp48
|
UTSW |
4 |
137,383,418 (GRCm39) |
splice site |
probably null |
|
R2520:Usp48
|
UTSW |
4 |
137,352,562 (GRCm39) |
missense |
probably benign |
0.05 |
R2965:Usp48
|
UTSW |
4 |
137,341,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R2966:Usp48
|
UTSW |
4 |
137,341,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R3026:Usp48
|
UTSW |
4 |
137,321,755 (GRCm39) |
missense |
probably benign |
0.06 |
R3963:Usp48
|
UTSW |
4 |
137,360,750 (GRCm39) |
nonsense |
probably null |
|
R4087:Usp48
|
UTSW |
4 |
137,350,651 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4633:Usp48
|
UTSW |
4 |
137,362,211 (GRCm39) |
missense |
probably damaging |
0.96 |
R4677:Usp48
|
UTSW |
4 |
137,343,692 (GRCm39) |
missense |
probably benign |
0.16 |
R4735:Usp48
|
UTSW |
4 |
137,360,680 (GRCm39) |
nonsense |
probably null |
|
R4932:Usp48
|
UTSW |
4 |
137,343,145 (GRCm39) |
splice site |
probably null |
|
R4932:Usp48
|
UTSW |
4 |
137,343,144 (GRCm39) |
missense |
probably benign |
0.00 |
R4935:Usp48
|
UTSW |
4 |
137,377,669 (GRCm39) |
missense |
probably benign |
0.42 |
R4952:Usp48
|
UTSW |
4 |
137,334,004 (GRCm39) |
nonsense |
probably null |
|
R5034:Usp48
|
UTSW |
4 |
137,334,068 (GRCm39) |
nonsense |
probably null |
|
R5153:Usp48
|
UTSW |
4 |
137,343,673 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5443:Usp48
|
UTSW |
4 |
137,348,532 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5591:Usp48
|
UTSW |
4 |
137,379,963 (GRCm39) |
intron |
probably benign |
|
R5825:Usp48
|
UTSW |
4 |
137,350,689 (GRCm39) |
missense |
probably benign |
|
R5889:Usp48
|
UTSW |
4 |
137,343,723 (GRCm39) |
missense |
probably benign |
|
R5955:Usp48
|
UTSW |
4 |
137,343,129 (GRCm39) |
missense |
probably benign |
|
R6089:Usp48
|
UTSW |
4 |
137,333,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R6443:Usp48
|
UTSW |
4 |
137,341,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R6473:Usp48
|
UTSW |
4 |
137,336,419 (GRCm39) |
critical splice donor site |
probably null |
|
R6482:Usp48
|
UTSW |
4 |
137,362,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R6859:Usp48
|
UTSW |
4 |
137,352,587 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6916:Usp48
|
UTSW |
4 |
137,365,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R6977:Usp48
|
UTSW |
4 |
137,377,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R7749:Usp48
|
UTSW |
4 |
137,377,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R7759:Usp48
|
UTSW |
4 |
137,321,763 (GRCm39) |
missense |
probably benign |
0.25 |
R7767:Usp48
|
UTSW |
4 |
137,331,956 (GRCm39) |
critical splice donor site |
probably null |
|
R7850:Usp48
|
UTSW |
4 |
137,333,060 (GRCm39) |
splice site |
probably null |
|
R7881:Usp48
|
UTSW |
4 |
137,360,766 (GRCm39) |
missense |
probably benign |
0.00 |
R7897:Usp48
|
UTSW |
4 |
137,371,739 (GRCm39) |
missense |
probably damaging |
0.96 |
R8186:Usp48
|
UTSW |
4 |
137,348,507 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8198:Usp48
|
UTSW |
4 |
137,348,470 (GRCm39) |
unclassified |
probably benign |
|
R8353:Usp48
|
UTSW |
4 |
137,350,693 (GRCm39) |
missense |
probably benign |
0.00 |
R8466:Usp48
|
UTSW |
4 |
137,350,630 (GRCm39) |
missense |
probably null |
1.00 |
R8506:Usp48
|
UTSW |
4 |
137,338,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R8821:Usp48
|
UTSW |
4 |
137,341,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R8831:Usp48
|
UTSW |
4 |
137,341,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R8911:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9043:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9044:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9289:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9295:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9296:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9297:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9317:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9460:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9480:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9481:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9520:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9521:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9522:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9627:Usp48
|
UTSW |
4 |
137,340,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9698:Usp48
|
UTSW |
4 |
137,361,202 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9752:Usp48
|
UTSW |
4 |
137,341,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R9784:Usp48
|
UTSW |
4 |
137,321,812 (GRCm39) |
missense |
probably benign |
0.06 |
RF002:Usp48
|
UTSW |
4 |
137,333,106 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Usp48
|
UTSW |
4 |
137,331,948 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAAGTTACAGAGAGTGCTGCTCG -3'
(R):5'- AGAATGTTAGCTTCAAGCCACTCCC -3'
Sequencing Primer
(F):5'- CAAGGTGCGTAGCTCTAATGTC -3'
(R):5'- ccacccacaccacccag -3'
|
Posted On |
2014-05-23 |