Incidental Mutation 'R7759:Usp48'
ID |
597713 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp48
|
Ensembl Gene |
ENSMUSG00000043411 |
Gene Name |
ubiquitin specific peptidase 48 |
Synonyms |
Usp31, 2810449C13Rik, D330022K21Rik |
MMRRC Submission |
045815-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.953)
|
Stock # |
R7759 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
137321079-137385842 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 137321763 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 24
(S24P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055131]
[ENSMUST00000105838]
[ENSMUST00000105839]
[ENSMUST00000105840]
[ENSMUST00000153100]
|
AlphaFold |
Q3V0C5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055131
AA Change: S24P
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000055016 Gene: ENSMUSG00000043411 AA Change: S24P
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 benign
Transcript: ENSMUST00000105838
|
SMART Domains |
Protein: ENSMUSP00000101464 Gene: ENSMUSG00000043411
Domain | Start | End | E-Value | Type |
Blast:DUSP
|
1 |
30 |
3e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105839
AA Change: S24P
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000101465 Gene: ENSMUSG00000043411 AA Change: S24P
Domain | Start | End | E-Value | Type |
Pfam:UCH
|
88 |
418 |
3.2e-47 |
PFAM |
Pfam:UCH_1
|
89 |
374 |
1.1e-25 |
PFAM |
Blast:DUSP
|
480 |
556 |
5e-40 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105840
AA Change: S24P
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000101466 Gene: ENSMUSG00000043411 AA Change: S24P
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 |
possibly damaging
Transcript: ENSMUST00000153100
AA Change: S52P
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000123154 Gene: ENSMUSG00000043411 AA Change: S52P
Domain | Start | End | E-Value | Type |
Blast:IG_like
|
74 |
129 |
7e-34 |
BLAST |
PDB:4M5X|B
|
111 |
158 |
1e-7 |
PDB |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
G |
T |
16: 4,682,514 (GRCm39) |
G215V |
probably benign |
Het |
Adamts1 |
C |
A |
16: 85,594,683 (GRCm39) |
G652C |
probably damaging |
Het |
Adck1 |
G |
A |
12: 88,368,887 (GRCm39) |
A122T |
possibly damaging |
Het |
Akap1 |
A |
C |
11: 88,736,659 (GRCm39) |
M34R |
probably damaging |
Het |
Apc2 |
C |
T |
10: 80,147,030 (GRCm39) |
R695C |
probably damaging |
Het |
Apon |
T |
A |
10: 128,090,384 (GRCm39) |
W21R |
probably benign |
Het |
Arhgef16 |
T |
C |
4: 154,371,432 (GRCm39) |
T254A |
probably benign |
Het |
Arid5b |
T |
A |
10: 67,933,632 (GRCm39) |
S757C |
probably damaging |
Het |
B020004C17Rik |
A |
C |
14: 57,254,242 (GRCm39) |
I122L |
possibly damaging |
Het |
Bckdhb |
T |
G |
9: 83,892,379 (GRCm39) |
V270G |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,821,145 (GRCm39) |
Y1146H |
probably benign |
Het |
Carmil2 |
A |
G |
8: 106,423,668 (GRCm39) |
D1214G |
possibly damaging |
Het |
Ccdc142 |
T |
C |
6: 83,084,912 (GRCm39) |
V636A |
probably benign |
Het |
Chd9 |
T |
C |
8: 91,704,178 (GRCm39) |
|
probably null |
Het |
Csmd3 |
A |
G |
15: 47,561,569 (GRCm39) |
S1336P |
|
Het |
Cubn |
A |
G |
2: 13,352,961 (GRCm39) |
Y1926H |
probably damaging |
Het |
Dock4 |
A |
T |
12: 40,867,735 (GRCm39) |
D1437V |
probably damaging |
Het |
Eme1 |
A |
T |
11: 94,536,666 (GRCm39) |
Y504* |
probably null |
Het |
Enah |
G |
A |
1: 181,746,009 (GRCm39) |
A687V |
unknown |
Het |
Endou |
A |
C |
15: 97,611,747 (GRCm39) |
V339G |
probably damaging |
Het |
Ephb6 |
G |
A |
6: 41,591,539 (GRCm39) |
R232H |
probably benign |
Het |
Ephx2 |
G |
A |
14: 66,326,968 (GRCm39) |
A409V |
possibly damaging |
Het |
Esd |
T |
A |
14: 74,983,007 (GRCm39) |
C219* |
probably null |
Het |
Fscb |
A |
T |
12: 64,520,866 (GRCm39) |
M200K |
probably benign |
Het |
Gabra6 |
A |
T |
11: 42,208,508 (GRCm39) |
V108D |
probably damaging |
Het |
Gm11555 |
A |
G |
11: 99,540,568 (GRCm39) |
V137A |
unknown |
Het |
Gpld1 |
A |
G |
13: 25,146,383 (GRCm39) |
D209G |
probably damaging |
Het |
Ikzf1 |
T |
A |
11: 11,719,256 (GRCm39) |
I408N |
probably damaging |
Het |
Itgb4 |
A |
G |
11: 115,894,536 (GRCm39) |
R1364G |
possibly damaging |
Het |
Kif26b |
A |
C |
1: 178,506,509 (GRCm39) |
K195T |
probably damaging |
Het |
Mfsd12 |
T |
C |
10: 81,199,427 (GRCm39) |
W440R |
probably benign |
Het |
Mtrr |
C |
T |
13: 68,718,146 (GRCm39) |
E373K |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,058,317 (GRCm39) |
V1293E |
probably damaging |
Het |
Myof |
C |
A |
19: 37,928,346 (GRCm39) |
A1068S |
probably benign |
Het |
Ncam2 |
A |
G |
16: 81,412,672 (GRCm39) |
D720G |
probably damaging |
Het |
Nova2 |
G |
T |
7: 18,692,176 (GRCm39) |
G435V |
|
Het |
Oacyl |
T |
A |
18: 65,843,631 (GRCm39) |
D109E |
probably damaging |
Het |
Or2y1g |
A |
T |
11: 49,171,463 (GRCm39) |
M163L |
probably benign |
Het |
Or56a4 |
G |
A |
7: 104,806,232 (GRCm39) |
S219F |
probably damaging |
Het |
Pdcd11 |
G |
A |
19: 47,101,637 (GRCm39) |
V941M |
possibly damaging |
Het |
Pdzd8 |
C |
A |
19: 59,288,358 (GRCm39) |
R1014L |
probably damaging |
Het |
Ppm1h |
T |
G |
10: 122,740,018 (GRCm39) |
D364E |
probably benign |
Het |
Rigi |
C |
A |
4: 40,225,104 (GRCm39) |
A298S |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,415,107 (GRCm39) |
N2002D |
probably benign |
Het |
Sall1 |
C |
T |
8: 89,768,979 (GRCm39) |
|
probably null |
Het |
Scn10a |
C |
T |
9: 119,477,198 (GRCm39) |
W728* |
probably null |
Het |
Setdb2 |
G |
T |
14: 59,656,813 (GRCm39) |
T168K |
probably damaging |
Het |
Sgms1 |
T |
C |
19: 32,137,276 (GRCm39) |
I97V |
probably benign |
Het |
Slc8a3 |
A |
T |
12: 81,361,325 (GRCm39) |
M498K |
probably benign |
Het |
Smpd4 |
A |
T |
16: 17,456,497 (GRCm39) |
E362D |
probably damaging |
Het |
Ssc5d |
A |
T |
7: 4,940,529 (GRCm39) |
K881* |
probably null |
Het |
Strn4 |
A |
G |
7: 16,564,309 (GRCm39) |
E313G |
probably damaging |
Het |
Tas2r113 |
A |
T |
6: 132,870,890 (GRCm39) |
N306I |
possibly damaging |
Het |
Tdrd6 |
G |
T |
17: 43,935,730 (GRCm39) |
R1773S |
probably benign |
Het |
Thbs2 |
T |
C |
17: 14,897,321 (GRCm39) |
E729G |
probably damaging |
Het |
Tnfrsf23 |
G |
A |
7: 143,224,572 (GRCm39) |
T135I |
probably damaging |
Het |
Tollip |
A |
G |
7: 141,438,276 (GRCm39) |
M218T |
probably benign |
Het |
Tyk2 |
A |
T |
9: 21,031,554 (GRCm39) |
|
probably null |
Het |
Ubr2 |
G |
A |
17: 47,296,974 (GRCm39) |
R269C |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,185,806 (GRCm39) |
M1459K |
possibly damaging |
Het |
Upf1 |
A |
G |
8: 70,786,730 (GRCm39) |
V929A |
probably benign |
Het |
Vmn1r214 |
G |
A |
13: 23,218,631 (GRCm39) |
E42K |
not run |
Het |
Vmn1r83 |
G |
T |
7: 12,055,360 (GRCm39) |
D232E |
probably benign |
Het |
Vmn2r25 |
C |
T |
6: 123,800,339 (GRCm39) |
V668I |
probably damaging |
Het |
Vmn2r6 |
A |
G |
3: 64,463,991 (GRCm39) |
I281T |
probably damaging |
Het |
Ywhag |
A |
T |
5: 135,940,043 (GRCm39) |
Y184N |
probably damaging |
Het |
Zdbf2 |
A |
C |
1: 63,347,535 (GRCm39) |
E1971D |
possibly damaging |
Het |
Zfp568 |
G |
A |
7: 29,722,839 (GRCm39) |
A595T |
possibly damaging |
Het |
Zfy2 |
T |
C |
Y: 2,117,083 (GRCm39) |
D248G |
probably benign |
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 |
|
R1725:Usp48
|
UTSW |
4 |
137,360,733 (GRCm39) |
nonsense |
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 |
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'- TTGACTGCTCTCCTGTCTGAGG -3'
(R):5'- CCAGCGTTACTTACTAAGCCC -3'
Sequencing Primer
(F):5'- TCTCCTGTCTGAGGGCAGC -3'
(R):5'- ATCTTCAGGATGCGAGCCCAG -3'
|
Posted On |
2019-11-26 |