Incidental Mutation 'R9627:Usp48'
ID |
725206 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp48
|
Ensembl Gene |
ENSMUSG00000043411 |
Gene Name |
ubiquitin specific peptidase 48 |
Synonyms |
Usp31, 2810449C13Rik, D330022K21Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.953)
|
Stock # |
R9627 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
137321079-137385842 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 137340996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 332
(G332E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055131]
[ENSMUST00000105837]
[ENSMUST00000105838]
[ENSMUST00000105839]
[ENSMUST00000105840]
|
AlphaFold |
Q3V0C5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055131
AA Change: G332E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000055016 Gene: ENSMUSG00000043411 AA Change: G332E
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
|
SMART Domains |
Protein: ENSMUSP00000101463 Gene: ENSMUSG00000043411
Domain | Start | End | E-Value | Type |
Blast:DUSP
|
1 |
30 |
3e-11 |
BLAST |
|
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: G332E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000101465 Gene: ENSMUSG00000043411 AA Change: G332E
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: G332E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000101466 Gene: ENSMUSG00000043411 AA Change: G332E
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 |
|
Meta Mutation Damage Score |
0.0678 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
T |
2: 68,487,834 (GRCm39) |
|
probably benign |
Het |
Abca14 |
T |
C |
7: 119,854,530 (GRCm39) |
V898A |
probably benign |
Het |
Adamtsl1 |
A |
T |
4: 86,306,762 (GRCm39) |
D1400V |
possibly damaging |
Het |
Akap6 |
T |
A |
12: 53,151,413 (GRCm39) |
M1159K |
|
Het |
Atg13 |
C |
A |
2: 91,509,098 (GRCm39) |
G446* |
probably null |
Het |
Atp6v1g2 |
G |
T |
17: 35,454,956 (GRCm39) |
|
probably null |
Het |
Bmp2k |
C |
T |
5: 97,201,028 (GRCm39) |
A316V |
possibly damaging |
Het |
Ccdc34 |
AAGA |
AA |
2: 109,871,010 (GRCm39) |
|
probably null |
Het |
Cfap251 |
A |
G |
5: 123,460,557 (GRCm39) |
D1173G |
probably benign |
Het |
Cln6 |
T |
A |
9: 62,754,303 (GRCm39) |
I115N |
probably damaging |
Het |
Cma1 |
T |
C |
14: 56,181,289 (GRCm39) |
T39A |
probably benign |
Het |
Cpsf1 |
A |
T |
15: 76,484,088 (GRCm39) |
M744K |
probably damaging |
Het |
Csf1r |
A |
G |
18: 61,260,972 (GRCm39) |
Y721C |
probably damaging |
Het |
Dcaf12 |
A |
G |
4: 41,293,976 (GRCm39) |
L387P |
probably benign |
Het |
Ephb1 |
T |
C |
9: 101,918,468 (GRCm39) |
E347G |
possibly damaging |
Het |
Fig4 |
T |
A |
10: 41,108,178 (GRCm39) |
H674L |
probably benign |
Het |
Foxa3 |
T |
A |
7: 18,748,458 (GRCm39) |
K223* |
probably null |
Het |
Gimap7 |
T |
C |
6: 48,700,600 (GRCm39) |
V62A |
probably damaging |
Het |
Glrx3 |
T |
A |
7: 137,046,755 (GRCm39) |
V49E |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,756,167 (GRCm39) |
Y823C |
probably damaging |
Het |
H3c7 |
G |
T |
13: 23,728,793 (GRCm39) |
V47L |
possibly damaging |
Het |
Hapln4 |
C |
A |
8: 70,539,520 (GRCm39) |
R184S |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,506,054 (GRCm39) |
C3824Y |
probably damaging |
Het |
Hrnr |
T |
C |
3: 93,233,235 (GRCm39) |
S1158P |
unknown |
Het |
Itln1 |
A |
G |
1: 171,360,985 (GRCm39) |
S36P |
probably benign |
Het |
Kcnh5 |
A |
C |
12: 75,160,990 (GRCm39) |
I306S |
probably damaging |
Het |
Kctd19 |
T |
A |
8: 106,113,997 (GRCm39) |
M559L |
probably benign |
Het |
Kif2a |
A |
G |
13: 107,158,558 (GRCm39) |
I9T |
possibly damaging |
Het |
Klra5 |
G |
A |
6: 129,883,701 (GRCm39) |
T142I |
probably benign |
Het |
Ldlrad3 |
A |
G |
2: 101,785,423 (GRCm39) |
V184A |
probably damaging |
Het |
Lrrc27 |
T |
C |
7: 138,808,582 (GRCm39) |
|
probably benign |
Het |
Mark1 |
A |
G |
1: 184,646,817 (GRCm39) |
V340A |
probably benign |
Het |
Mrps31 |
T |
C |
8: 22,901,558 (GRCm39) |
V26A |
probably benign |
Het |
Mtrr |
G |
A |
13: 68,725,756 (GRCm39) |
L118F |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Nbas |
G |
T |
12: 13,350,203 (GRCm39) |
V285F |
possibly damaging |
Het |
Nfrkb |
T |
C |
9: 31,321,189 (GRCm39) |
L675P |
possibly damaging |
Het |
Or10v9 |
T |
A |
19: 11,832,910 (GRCm39) |
I136F |
possibly damaging |
Het |
Or1q1 |
T |
A |
2: 36,887,665 (GRCm39) |
V281E |
|
Het |
Or5k15 |
T |
A |
16: 58,709,771 (GRCm39) |
I271L |
probably benign |
Het |
Phkg1 |
C |
T |
5: 129,893,376 (GRCm39) |
W358* |
probably null |
Het |
Plekhj1 |
A |
C |
10: 80,633,494 (GRCm39) |
I51S |
possibly damaging |
Het |
Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
Prkg2 |
T |
C |
5: 99,079,869 (GRCm39) |
*763W |
probably null |
Het |
Rhobtb2 |
A |
G |
14: 70,034,349 (GRCm39) |
F292S |
probably damaging |
Het |
Rlf |
A |
T |
4: 121,007,002 (GRCm39) |
C769* |
probably null |
Het |
Rmi1 |
C |
A |
13: 58,557,366 (GRCm39) |
D538E |
possibly damaging |
Het |
Scn4a |
C |
T |
11: 106,212,839 (GRCm39) |
V1389I |
probably benign |
Het |
Serpinc1 |
A |
T |
1: 160,821,101 (GRCm39) |
K183* |
probably null |
Het |
Setd4 |
A |
T |
16: 93,380,562 (GRCm39) |
M399K |
possibly damaging |
Het |
Setx |
T |
C |
2: 29,034,661 (GRCm39) |
M382T |
probably damaging |
Het |
Slc6a9 |
A |
G |
4: 117,721,210 (GRCm39) |
Y208C |
probably damaging |
Het |
Slfn2 |
A |
T |
11: 82,960,367 (GRCm39) |
K115N |
|
Het |
Snrk |
A |
T |
9: 121,966,427 (GRCm39) |
K117* |
probably null |
Het |
Spata31 |
A |
G |
13: 65,065,409 (GRCm39) |
Y38C |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,793,704 (GRCm39) |
T464A |
probably damaging |
Het |
Tagap1 |
C |
T |
17: 7,224,327 (GRCm39) |
G123D |
probably benign |
Het |
Tas2r136 |
T |
C |
6: 132,754,948 (GRCm39) |
K60E |
possibly damaging |
Het |
Tasor |
T |
C |
14: 27,194,123 (GRCm39) |
S1108P |
probably benign |
Het |
Tmem200b |
A |
C |
4: 131,649,437 (GRCm39) |
Y119S |
probably damaging |
Het |
Wwp2 |
T |
G |
8: 108,278,959 (GRCm39) |
L578W |
probably damaging |
Het |
Zfp53 |
T |
A |
17: 21,728,745 (GRCm39) |
C259* |
probably null |
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 |
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 |
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'- TAAACATCATCCTGGGTGGC -3'
(R):5'- CCTCAATCCCTAGCTGTAGC -3'
Sequencing Primer
(F):5'- ACATCATCCTGGGTGGCTCTTTG -3'
(R):5'- GCTGTAGCTTCTTGCCCTC -3'
|
Posted On |
2022-09-12 |