Incidental Mutation 'R5825:Usp48'
| ID |
450119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp48
|
| Ensembl Gene |
ENSMUSG00000043411 |
| Gene Name |
ubiquitin specific peptidase 48 |
| Synonyms |
Usp31, 2810449C13Rik, D330022K21Rik |
| MMRRC Submission |
044053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R5825 (G1)
|
| Quality Score |
147 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
137321079-137385842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137350689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 585
(T585A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055131]
[ENSMUST00000105837]
[ENSMUST00000105838]
[ENSMUST00000105839]
[ENSMUST00000105840]
|
| AlphaFold |
Q3V0C5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055131
AA Change: T584A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: T584A
| 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: ENSMUST00000105837
AA Change: T59A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101463
Gene: ENSMUSG00000043411
AA Change: T59A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUSP
|
1 |
30 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105838
AA Change: T59A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101464
Gene: ENSMUSG00000043411
AA Change: T59A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUSP
|
1 |
30 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105839
AA Change: T585A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101465
Gene: ENSMUSG00000043411
AA Change: T585A
| 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: T585A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: T585A
| 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 |
unknown
Transcript: ENSMUST00000128065
AA Change: T3A
|
| SMART Domains |
Protein: ENSMUSP00000115533
Gene: ENSMUSG00000043411
AA Change: T3A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUSP
|
9 |
111 |
2e-13 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152985
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.1%
- 10x: 95.3%
- 20x: 83.6%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,791,976 (GRCm39) |
Y217* |
probably null |
Het |
| Abca2 |
A |
T |
2: 25,326,748 (GRCm39) |
I567F |
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,391,098 (GRCm39) |
|
probably null |
Het |
| Atxn7l2 |
C |
A |
3: 108,112,127 (GRCm39) |
A320S |
probably damaging |
Het |
| Bfsp1 |
C |
T |
2: 143,669,379 (GRCm39) |
G400D |
probably benign |
Het |
| Ces5a |
G |
T |
8: 94,252,295 (GRCm39) |
A199D |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,702,336 (GRCm39) |
|
probably null |
Het |
| Chd2 |
A |
T |
7: 73,134,350 (GRCm39) |
|
probably null |
Het |
| Crebbp |
A |
G |
16: 3,905,606 (GRCm39) |
V1705A |
probably damaging |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,451 (GRCm39) |
Q58L |
probably benign |
Het |
| Dlec1 |
T |
A |
9: 118,972,036 (GRCm39) |
I1379N |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 66,017,427 (GRCm39) |
H593R |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,495,673 (GRCm39) |
C412S |
probably benign |
Het |
| Fam110a |
A |
G |
2: 151,811,961 (GRCm39) |
S270P |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,130,643 (GRCm39) |
T1412A |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,874,449 (GRCm39) |
E2015G |
probably benign |
Het |
| Hormad1 |
T |
C |
3: 95,469,870 (GRCm39) |
V39A |
probably damaging |
Het |
| Igf2 |
G |
T |
7: 142,207,592 (GRCm39) |
H168Q |
probably damaging |
Het |
| Il18rap |
A |
G |
1: 40,570,726 (GRCm39) |
T223A |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,045,647 (GRCm39) |
E2573G |
probably damaging |
Het |
| Jcad |
T |
A |
18: 4,674,896 (GRCm39) |
V886E |
probably benign |
Het |
| Klra1 |
T |
C |
6: 130,357,592 (GRCm39) |
R12G |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,368,613 (GRCm39) |
I1248V |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mapk7 |
C |
T |
11: 61,381,207 (GRCm39) |
R465Q |
possibly damaging |
Het |
| Mogs |
T |
C |
6: 83,095,193 (GRCm39) |
V670A |
possibly damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Ninl |
A |
T |
2: 150,782,644 (GRCm39) |
I1182N |
probably damaging |
Het |
| Nup160 |
A |
G |
2: 90,510,114 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
G |
14: 56,101,683 (GRCm39) |
R451G |
probably benign |
Het |
| Or12e7 |
A |
G |
2: 87,287,794 (GRCm39) |
D95G |
probably benign |
Het |
| Or5h22 |
T |
C |
16: 58,895,024 (GRCm39) |
I140V |
probably benign |
Het |
| Osbp |
A |
G |
19: 11,948,085 (GRCm39) |
T131A |
probably damaging |
Het |
| Pcdhga12 |
A |
C |
18: 37,901,556 (GRCm39) |
D796A |
possibly damaging |
Het |
| Pcdhgb8 |
G |
A |
18: 37,895,289 (GRCm39) |
V120I |
probably benign |
Het |
| Pdgfb |
A |
T |
15: 79,881,869 (GRCm39) |
V213E |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,583,460 (GRCm39) |
M1013V |
probably benign |
Het |
| Pnma8a |
A |
G |
7: 16,695,020 (GRCm39) |
S292G |
probably benign |
Het |
| Prrt4 |
A |
G |
6: 29,177,182 (GRCm39) |
S196P |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,661,136 (GRCm39) |
M463V |
possibly damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,646,392 (GRCm39) |
S58R |
probably damaging |
Het |
| Traf3 |
C |
A |
12: 111,221,795 (GRCm39) |
Q319K |
probably benign |
Het |
| Trappc8 |
C |
T |
18: 21,006,977 (GRCm39) |
V194M |
probably damaging |
Het |
| Tyw1 |
A |
G |
5: 130,296,929 (GRCm39) |
K182R |
probably damaging |
Het |
| Xkr6 |
G |
T |
14: 64,056,481 (GRCm39) |
V387L |
probably benign |
Het |
| Yod1 |
T |
C |
1: 130,646,743 (GRCm39) |
W207R |
probably damaging |
Het |
| Zdhhc8 |
T |
C |
16: 18,046,538 (GRCm39) |
S63G |
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,905,645 (GRCm39) |
E874G |
probably damaging |
Het |
| Zfy1 |
T |
A |
Y: 726,531 (GRCm39) |
K411N |
possibly 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 |
|
|
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'- AGCATTCTCATAGGCAGGC -3'
(R):5'- ATGTGCTCTTTCATCAGAGTCC -3'
Sequencing Primer
(F):5'- CATTCTCATAGGCAGGCAGTGTG -3'
(R):5'- CTCAGCCTCTAAAGTGCTAGG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation