Incidental Mutation 'R9295:Usp48'
ID |
704535 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp48
|
Ensembl Gene |
ENSMUSG00000043411 |
Gene Name |
ubiquitin specific peptidase 48 |
Synonyms |
Usp31, 2810449C13Rik, D330022K21Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.953)
|
Stock # |
R9295 (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: 98.7%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410002F23Rik |
T |
A |
7: 43,900,116 (GRCm39) |
V7E |
probably benign |
Het |
Adam17 |
A |
G |
12: 21,399,938 (GRCm39) |
V156A |
probably benign |
Het |
Ankrd6 |
A |
T |
4: 32,822,160 (GRCm39) |
V236E |
probably damaging |
Het |
Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
C2cd3 |
C |
A |
7: 100,081,734 (GRCm39) |
D1125E |
|
Het |
Cacna2d2 |
A |
G |
9: 107,386,419 (GRCm39) |
E182G |
probably benign |
Het |
Cct3 |
A |
G |
3: 88,212,430 (GRCm39) |
K139E |
probably benign |
Het |
Cd96 |
G |
T |
16: 45,938,244 (GRCm39) |
Q74K |
probably benign |
Het |
Cdk5rap1 |
A |
T |
2: 154,194,186 (GRCm39) |
I373N |
probably damaging |
Het |
Cep350 |
A |
T |
1: 155,738,051 (GRCm39) |
Y2597* |
probably null |
Het |
Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
Clcn1 |
G |
A |
6: 42,290,883 (GRCm39) |
G919E |
probably benign |
Het |
Col6a4 |
G |
A |
9: 105,957,734 (GRCm39) |
A30V |
probably damaging |
Het |
Copa |
T |
C |
1: 171,939,823 (GRCm39) |
C655R |
probably damaging |
Het |
Cpt1a |
T |
A |
19: 3,428,441 (GRCm39) |
V605E |
probably damaging |
Het |
Ddx46 |
T |
C |
13: 55,811,599 (GRCm39) |
I600T |
possibly damaging |
Het |
Dhx9 |
C |
A |
1: 153,340,673 (GRCm39) |
V656L |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,363,348 (GRCm39) |
M3970K |
probably benign |
Het |
Ercc5 |
G |
T |
1: 44,198,017 (GRCm39) |
V145F |
probably damaging |
Het |
Erv3 |
T |
C |
2: 131,697,979 (GRCm39) |
T127A |
possibly damaging |
Het |
Fcer1a |
T |
C |
1: 173,050,174 (GRCm39) |
Y172C |
probably damaging |
Het |
Gabra1 |
A |
G |
11: 42,044,217 (GRCm39) |
M167T |
probably damaging |
Het |
Ggt1 |
A |
G |
10: 75,421,743 (GRCm39) |
H530R |
probably benign |
Het |
Gli2 |
C |
A |
1: 118,764,996 (GRCm39) |
V1052L |
probably damaging |
Het |
Gm4491 |
A |
C |
14: 57,351,140 (GRCm39) |
F84C |
unknown |
Het |
Irf2bp1 |
C |
T |
7: 18,739,740 (GRCm39) |
T460I |
probably benign |
Het |
Klf3 |
A |
G |
5: 64,980,240 (GRCm39) |
Y187C |
possibly damaging |
Het |
Krt80 |
T |
C |
15: 101,249,652 (GRCm39) |
E287G |
probably benign |
Het |
Lama4 |
G |
T |
10: 38,948,747 (GRCm39) |
V837F |
probably damaging |
Het |
Lrig3 |
G |
T |
10: 125,850,722 (GRCm39) |
C1096F |
probably benign |
Het |
Mtrr |
T |
C |
13: 68,719,258 (GRCm39) |
R328G |
possibly damaging |
Het |
Nln |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
13: 104,186,924 (GRCm39) |
|
probably null |
Het |
Obsl1 |
A |
T |
1: 75,476,721 (GRCm39) |
D744E |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Or4x13 |
G |
A |
2: 90,231,441 (GRCm39) |
M145I |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,112,478 (GRCm39) |
T21A |
probably damaging |
Het |
Phf20l1 |
G |
A |
15: 66,513,752 (GRCm39) |
G1003D |
probably damaging |
Het |
Phtf1 |
A |
G |
3: 103,904,893 (GRCm39) |
T514A |
probably benign |
Het |
Phykpl |
A |
G |
11: 51,482,231 (GRCm39) |
E115G |
possibly damaging |
Het |
Pramel20 |
A |
G |
4: 143,298,704 (GRCm39) |
T216A |
possibly damaging |
Het |
Pxmp2 |
C |
A |
5: 110,433,944 (GRCm39) |
|
probably benign |
Het |
Reln |
A |
G |
5: 22,209,209 (GRCm39) |
L1123P |
possibly damaging |
Het |
Rusc2 |
T |
C |
4: 43,416,382 (GRCm39) |
S563P |
probably damaging |
Het |
Secisbp2 |
T |
G |
13: 51,808,483 (GRCm39) |
S83A |
probably damaging |
Het |
Sema3c |
T |
A |
5: 17,932,495 (GRCm39) |
M666K |
probably benign |
Het |
Serbp1 |
G |
T |
6: 67,248,208 (GRCm39) |
D114Y |
probably damaging |
Het |
Sh3d21 |
T |
A |
4: 126,045,276 (GRCm39) |
T468S |
possibly damaging |
Het |
Shroom3 |
T |
A |
5: 93,098,478 (GRCm39) |
D1319E |
probably benign |
Het |
Skida1 |
T |
C |
2: 18,051,386 (GRCm39) |
R502G |
unknown |
Het |
Slc25a12 |
C |
A |
2: 71,128,986 (GRCm39) |
G314C |
possibly damaging |
Het |
Smg8 |
A |
G |
11: 86,968,789 (GRCm39) |
V989A |
probably benign |
Het |
Spon2 |
G |
A |
5: 33,373,844 (GRCm39) |
P156S |
probably damaging |
Het |
Stx1a |
A |
G |
5: 135,066,370 (GRCm39) |
N50S |
probably benign |
Het |
Tmem151b |
C |
A |
17: 45,857,806 (GRCm39) |
V147L |
probably benign |
Het |
Trim12c |
C |
T |
7: 103,990,391 (GRCm39) |
G362D |
unknown |
Het |
Tsr1 |
T |
C |
11: 74,799,135 (GRCm39) |
V772A |
probably damaging |
Het |
Tti2 |
A |
T |
8: 31,643,550 (GRCm39) |
K222* |
probably null |
Het |
Vmn1r60 |
A |
G |
7: 5,547,218 (GRCm39) |
M294T |
probably null |
Het |
Vmn2r6 |
T |
C |
3: 64,463,484 (GRCm39) |
E450G |
probably benign |
Het |
Vmn2r60 |
T |
A |
7: 41,785,955 (GRCm39) |
F253I |
probably benign |
Het |
Wnk4 |
A |
T |
11: 101,160,078 (GRCm39) |
D649V |
probably damaging |
Het |
Zfhx4 |
T |
C |
3: 5,394,525 (GRCm39) |
S1040P |
probably benign |
Het |
Zfp112 |
C |
T |
7: 23,824,805 (GRCm39) |
R262C |
probably benign |
Het |
Zfp287 |
T |
A |
11: 62,606,115 (GRCm39) |
D264V |
probably benign |
Het |
Zfp46 |
T |
C |
4: 136,017,876 (GRCm39) |
C237R |
probably damaging |
Het |
Zfp773 |
C |
T |
7: 7,135,694 (GRCm39) |
E301K |
probably benign |
Het |
Zswim2 |
A |
C |
2: 83,748,304 (GRCm39) |
V292G |
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 |
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 |
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'- CATCATCCTGGGTGGCTCTTTG -3'
(R):5'- CCTCAATCCCTAGCTGTAGC -3'
Sequencing Primer
(F):5'- AGTGGTGGGGGTGCAACC -3'
(R):5'- GCTGTAGCTTCTTGCCCTC -3'
|
Posted On |
2022-03-25 |