Incidental Mutation 'R6089:Usp48'
| ID |
484647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp48
|
| Ensembl Gene |
ENSMUSG00000043411 |
| Gene Name |
ubiquitin specific peptidase 48 |
| Synonyms |
Usp31, 2810449C13Rik, D330022K21Rik |
| MMRRC Submission |
044246-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R6089 (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 137333129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 108
(F108L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055131]
[ENSMUST00000105838]
[ENSMUST00000105839]
[ENSMUST00000105840]
[ENSMUST00000153100]
|
| AlphaFold |
Q3V0C5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055131
AA Change: F108L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: F108L
| 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 damaging
Transcript: ENSMUST00000105839
AA Change: F108L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101465
Gene: ENSMUSG00000043411
AA Change: F108L
| 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 damaging
Transcript: ENSMUST00000105840
AA Change: F108L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: F108L
| 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 damaging
Transcript: ENSMUST00000153100
AA Change: F136L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123154
Gene: ENSMUSG00000043411
AA Change: F136L
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
G |
1: 125,335,132 (GRCm39) |
V95A |
probably damaging |
Het |
| Ankrd40 |
A |
T |
11: 94,224,751 (GRCm39) |
K53N |
probably damaging |
Het |
| Ash1l |
C |
T |
3: 88,960,450 (GRCm39) |
Q2338* |
probably null |
Het |
| Astn2 |
A |
G |
4: 65,712,810 (GRCm39) |
F610S |
probably damaging |
Het |
| Baz2a |
TCTCCTC |
TCTC |
10: 127,950,511 (GRCm39) |
|
probably benign |
Het |
| Btbd8 |
C |
T |
5: 107,654,895 (GRCm39) |
A386V |
probably damaging |
Het |
| Calm4 |
A |
T |
13: 3,887,874 (GRCm39) |
|
probably benign |
Het |
| Card10 |
T |
C |
15: 78,686,614 (GRCm39) |
T68A |
probably benign |
Het |
| Cars2 |
A |
G |
8: 11,580,301 (GRCm39) |
M245T |
probably damaging |
Het |
| Cat |
C |
A |
2: 103,303,296 (GRCm39) |
L160F |
probably null |
Het |
| Cers5 |
G |
T |
15: 99,638,883 (GRCm39) |
T144K |
probably benign |
Het |
| Cyp3a13 |
T |
A |
5: 137,908,215 (GRCm39) |
L211F |
probably benign |
Het |
| Defb4 |
A |
T |
8: 19,251,321 (GRCm39) |
R63* |
probably null |
Het |
| Dnah14 |
G |
T |
1: 181,577,719 (GRCm39) |
W3012L |
probably damaging |
Het |
| Dusp18 |
A |
G |
11: 3,847,555 (GRCm39) |
T182A |
probably benign |
Het |
| Dzip1l |
C |
A |
9: 99,524,737 (GRCm39) |
T286K |
possibly damaging |
Het |
| Eif2ak3 |
A |
T |
6: 70,873,918 (GRCm39) |
T944S |
possibly damaging |
Het |
| Fbn1 |
A |
T |
2: 125,163,145 (GRCm39) |
I2119N |
possibly damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,846,448 (GRCm39) |
S154P |
probably damaging |
Het |
| Gm15440 |
A |
T |
13: 51,845,437 (GRCm39) |
H107Q |
unknown |
Het |
| Grm2 |
G |
A |
9: 106,531,090 (GRCm39) |
P133L |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,228,285 (GRCm39) |
V61A |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,591,198 (GRCm39) |
T23A |
probably benign |
Het |
| Helz |
A |
T |
11: 107,485,963 (GRCm39) |
|
probably null |
Het |
| Herc1 |
A |
C |
9: 66,352,814 (GRCm39) |
H2100P |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ifngr1 |
T |
C |
10: 19,482,048 (GRCm39) |
S213P |
probably benign |
Het |
| Itgb7 |
T |
C |
15: 102,125,721 (GRCm39) |
D636G |
probably benign |
Het |
| Mre11a |
G |
A |
9: 14,730,760 (GRCm39) |
D491N |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,554,548 (GRCm39) |
L3915P |
unknown |
Het |
| Myh1 |
T |
A |
11: 67,092,993 (GRCm39) |
|
probably null |
Het |
| Myh1 |
T |
G |
11: 67,111,613 (GRCm39) |
|
probably null |
Het |
| Myh7b |
C |
T |
2: 155,464,409 (GRCm39) |
T608M |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,955,508 (GRCm39) |
K23E |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,551,331 (GRCm39) |
V620A |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,809,542 (GRCm39) |
Y1121H |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 37,131,551 (GRCm39) |
F207L |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,679 (GRCm39) |
V585A |
possibly damaging |
Het |
| Pigg |
A |
T |
5: 108,489,788 (GRCm39) |
M798L |
probably benign |
Het |
| Poc5 |
G |
T |
13: 96,533,179 (GRCm39) |
M102I |
probably damaging |
Het |
| Ppp2r3d |
T |
A |
9: 101,088,835 (GRCm39) |
Q496L |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,068,281 (GRCm39) |
Y1752H |
probably damaging |
Het |
| Ptpru |
G |
C |
4: 131,499,941 (GRCm39) |
S1244R |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,307,385 (GRCm39) |
K682E |
probably benign |
Het |
| Rtp3 |
T |
C |
9: 110,816,041 (GRCm39) |
D170G |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,406 (GRCm39) |
D478G |
possibly damaging |
Het |
| Scai |
A |
T |
2: 38,973,566 (GRCm39) |
Y58* |
probably null |
Het |
| Simc1 |
G |
A |
13: 54,676,303 (GRCm39) |
V1007M |
probably benign |
Het |
| Tcf20 |
G |
T |
15: 82,737,409 (GRCm39) |
D1347E |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,870,035 (GRCm39) |
Y279C |
probably damaging |
Het |
| Trdn |
C |
T |
10: 33,340,571 (GRCm39) |
P602S |
probably benign |
Het |
| Txndc5 |
A |
T |
13: 38,707,392 (GRCm39) |
M1K |
probably null |
Het |
| Ubr2 |
A |
C |
17: 47,293,218 (GRCm39) |
M356R |
possibly damaging |
Het |
| Uqcrc2 |
A |
T |
7: 120,253,232 (GRCm39) |
D332V |
probably damaging |
Het |
| Vill |
A |
G |
9: 118,886,867 (GRCm39) |
N4S |
probably benign |
Het |
| Vmn1r11 |
T |
C |
6: 57,114,645 (GRCm39) |
V103A |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,336 (GRCm39) |
D278G |
probably benign |
Het |
| Vps35l |
T |
G |
7: 118,345,658 (GRCm39) |
S59A |
possibly damaging |
Het |
| Wfdc15a |
A |
T |
2: 164,041,586 (GRCm39) |
L79* |
probably null |
Het |
| Xxylt1 |
C |
T |
16: 30,899,799 (GRCm39) |
V119M |
probably damaging |
Het |
| Zfp26 |
G |
T |
9: 20,348,989 (GRCm39) |
A525D |
probably damaging |
Het |
| Zgrf1 |
G |
A |
3: 127,389,642 (GRCm39) |
G396D |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,948,889 (GRCm39) |
D148G |
possibly damaging |
Het |
| Zscan26 |
G |
T |
13: 21,632,499 (GRCm39) |
S77R |
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 |
|
|
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 |
|
|
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'- TGCTCATGCCAAGCTGATG -3'
(R):5'- ATGTTTCCAGCATTGCCCTTGG -3'
Sequencing Primer
(F):5'- ATGAGGGCAGGCTTAAGTCTTCAG -3'
(R):5'- TGGCATGAACCAACACTCCTATTTC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation