Incidental Mutation 'R5591:Usp48'
| ID |
437514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp48
|
| Ensembl Gene |
ENSMUSG00000043411 |
| Gene Name |
ubiquitin specific peptidase 48 |
| Synonyms |
Usp31, 2810449C13Rik, D330022K21Rik |
| MMRRC Submission |
043269-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R5591 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
137321079-137385842 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 137379963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055131]
[ENSMUST00000105840]
[ENSMUST00000141628]
|
| AlphaFold |
Q3V0C5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055131
|
| SMART Domains |
Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
| 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: ENSMUST00000105840
|
| SMART Domains |
Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
| 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 |
noncoding transcript
Transcript: ENSMUST00000125151
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141426
|
| SMART Domains |
Protein: ENSMUSP00000118084
Gene: ENSMUSG00000043411
| 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 |
probably benign
Transcript: ENSMUST00000151807
|
| SMART Domains |
Protein: ENSMUSP00000115526
Gene: ENSMUSG00000043411
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
29 |
97 |
4.78e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152985
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153869
AA Change: D105G
|
| SMART Domains |
Protein: ENSMUSP00000117989
Gene: ENSMUSG00000043411
AA Change: D105G
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
1 |
69 |
9.53e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157012
|
| SMART Domains |
Protein: ENSMUSP00000118081
Gene: ENSMUSG00000043411
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBQ
|
2 |
42 |
5e-22 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
97% (56/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh16a1 |
T |
C |
7: 44,794,076 (GRCm39) |
E13G |
probably null |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Bub1 |
A |
T |
2: 127,661,263 (GRCm39) |
M276K |
probably benign |
Het |
| Casp14 |
A |
T |
10: 78,550,179 (GRCm39) |
D156E |
unknown |
Het |
| Ccdc82 |
T |
A |
9: 13,272,822 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,289,521 (GRCm39) |
N436S |
probably benign |
Het |
| Cyp2j12 |
A |
G |
4: 96,029,359 (GRCm39) |
|
probably benign |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,130,662 (GRCm39) |
S226P |
probably damaging |
Het |
| Gm3676 |
T |
C |
14: 41,365,181 (GRCm39) |
Y158C |
probably benign |
Het |
| Gnai1 |
A |
T |
5: 18,476,844 (GRCm39) |
I285K |
probably benign |
Het |
| Gpr179 |
C |
T |
11: 97,236,581 (GRCm39) |
V417I |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,882,051 (GRCm39) |
M247I |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,234,059 (GRCm39) |
L275F |
probably damaging |
Het |
| Ifi27l2b |
A |
G |
12: 103,417,566 (GRCm39) |
V207A |
probably damaging |
Het |
| Isg20l2 |
C |
T |
3: 87,837,731 (GRCm39) |
|
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,670,934 (GRCm39) |
D221G |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,979,929 (GRCm39) |
Y67C |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,025,018 (GRCm39) |
C249S |
probably damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,184,060 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
| Mbd5 |
A |
C |
2: 49,164,681 (GRCm39) |
Q958H |
probably damaging |
Het |
| Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mrm3 |
G |
A |
11: 76,140,907 (GRCm39) |
R305H |
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,063,890 (GRCm39) |
M1K |
probably null |
Het |
| Or10ak7 |
A |
T |
4: 118,791,658 (GRCm39) |
I127K |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,625,244 (GRCm39) |
I304F |
probably benign |
Het |
| Or2aj5 |
T |
A |
16: 19,424,608 (GRCm39) |
Q270L |
probably damaging |
Het |
| Or2ak7 |
A |
G |
11: 58,574,951 (GRCm39) |
N84S |
probably benign |
Het |
| Or2d3c |
A |
T |
7: 106,526,489 (GRCm39) |
M59K |
probably damaging |
Het |
| Or4c126 |
A |
G |
2: 89,823,751 (GRCm39) |
T5A |
possibly damaging |
Het |
| Or51q1 |
G |
T |
7: 103,629,320 (GRCm39) |
R307L |
probably benign |
Het |
| P3h3 |
C |
T |
6: 124,831,658 (GRCm39) |
|
probably benign |
Het |
| Pals2 |
A |
G |
6: 50,157,159 (GRCm39) |
S276G |
probably benign |
Het |
| Plekhg3 |
C |
T |
12: 76,607,066 (GRCm39) |
S42L |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,832,247 (GRCm39) |
|
probably benign |
Het |
| Pramel16 |
T |
C |
4: 143,675,377 (GRCm39) |
Y483C |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,691,530 (GRCm39) |
L398I |
probably damaging |
Het |
| Raph1 |
G |
A |
1: 60,540,905 (GRCm39) |
|
probably benign |
Het |
| Rnf144b |
G |
A |
13: 47,396,430 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,609,900 (GRCm39) |
S4309P |
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,601,482 (GRCm39) |
S1158T |
probably benign |
Het |
| Sim2 |
T |
C |
16: 93,898,048 (GRCm39) |
V94A |
probably damaging |
Het |
| Sirt5 |
A |
G |
13: 43,525,317 (GRCm39) |
D42G |
possibly damaging |
Het |
| Smarcal1 |
A |
T |
1: 72,630,412 (GRCm39) |
K155N |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,800,545 (GRCm39) |
Y428C |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,583,922 (GRCm39) |
N1655S |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,787,964 (GRCm39) |
E1160G |
probably damaging |
Het |
| Tmem192 |
A |
G |
8: 65,418,254 (GRCm39) |
Y168C |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,540,012 (GRCm39) |
M25998L |
probably benign |
Het |
| Vamp4 |
A |
G |
1: 162,415,811 (GRCm39) |
I71V |
possibly damaging |
Het |
| Washc5 |
C |
A |
15: 59,241,012 (GRCm39) |
D108Y |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,829,087 (GRCm39) |
H1043L |
probably benign |
Het |
| Zcchc14 |
C |
T |
8: 122,332,187 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,579,262 (GRCm39) |
F617S |
probably damaging |
Het |
| Zfp869 |
T |
A |
8: 70,160,342 (GRCm39) |
N77I |
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 |
|
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'- GTAGCAGGTTAACAGTGCTCTC -3'
(R):5'- CACATCACCCTGAAGTCTGG -3'
Sequencing Primer
(F):5'- AACAGTGCTCTCTGTGGATTGTCC -3'
(R):5'- TGAAGTCTGGGCCTGTCC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation