Incidental Mutation 'R3963:Usp48'
ID |
312171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp48
|
Ensembl Gene |
ENSMUSG00000043411 |
Gene Name |
ubiquitin specific peptidase 48 |
Synonyms |
Usp31, 2810449C13Rik, D330022K21Rik |
MMRRC Submission |
040932-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.953)
|
Stock # |
R3963 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
137321079-137385842 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 137360750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 26
(R26*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055131]
[ENSMUST00000105840]
[ENSMUST00000141628]
|
AlphaFold |
Q3V0C5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000055131
AA Change: R728*
|
SMART Domains |
Protein: ENSMUSP00000055016 Gene: ENSMUSG00000043411 AA Change: R728*
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 null
Transcript: ENSMUST00000105840
AA Change: R730*
|
SMART Domains |
Protein: ENSMUSP00000101466 Gene: ENSMUSG00000043411 AA Change: R730*
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 null
Transcript: ENSMUST00000128065
AA Change: R147*
|
SMART Domains |
Protein: ENSMUSP00000115533 Gene: ENSMUSG00000043411 AA Change: R147*
Domain | Start | End | E-Value | Type |
Blast:DUSP
|
9 |
111 |
2e-13 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000131755
AA Change: R2*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000141426
AA Change: R26*
|
SMART Domains |
Protein: ENSMUSP00000118084 Gene: ENSMUSG00000043411 AA Change: R26*
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 |
noncoding transcript
Transcript: ENSMUST00000152985
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154395
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (61/61) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
T |
C |
8: 114,504,443 (GRCm39) |
D59G |
probably benign |
Het |
Ank2 |
A |
T |
3: 126,728,245 (GRCm39) |
S783T |
probably benign |
Het |
Arfgef3 |
T |
C |
10: 18,468,025 (GRCm39) |
D1725G |
probably damaging |
Het |
B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
Btbd8 |
G |
A |
5: 107,655,222 (GRCm39) |
C1007Y |
probably damaging |
Het |
Ccdc82 |
C |
A |
9: 13,252,011 (GRCm39) |
T101K |
possibly damaging |
Het |
Ccdc85a |
A |
C |
11: 28,526,396 (GRCm39) |
M376R |
probably benign |
Het |
Cd200r1 |
T |
A |
16: 44,613,158 (GRCm39) |
C255S |
probably benign |
Het |
Cdc23 |
T |
C |
18: 34,779,972 (GRCm39) |
M119V |
probably benign |
Het |
Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
Clptm1 |
C |
T |
7: 19,372,121 (GRCm39) |
W238* |
probably null |
Het |
Cr2 |
A |
G |
1: 194,842,047 (GRCm39) |
V302A |
probably damaging |
Het |
Cyp4a31 |
A |
G |
4: 115,431,969 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
T |
A |
9: 64,769,613 (GRCm39) |
I440N |
probably damaging |
Het |
Dsc2 |
C |
T |
18: 20,184,284 (GRCm39) |
V35I |
probably damaging |
Het |
Dyrk1a |
T |
A |
16: 94,464,605 (GRCm39) |
M71K |
probably benign |
Het |
Exoc3l2 |
G |
A |
7: 19,229,181 (GRCm39) |
G200S |
probably benign |
Het |
Fhip2a |
T |
C |
19: 57,361,442 (GRCm39) |
L122P |
possibly damaging |
Het |
Fkbp15 |
A |
T |
4: 62,258,914 (GRCm39) |
I114N |
probably damaging |
Het |
Fpr-rs6 |
G |
A |
17: 20,402,479 (GRCm39) |
P294L |
probably damaging |
Het |
Frmd6 |
A |
G |
12: 70,940,638 (GRCm39) |
T428A |
probably benign |
Het |
G6pd2 |
T |
A |
5: 61,966,228 (GRCm39) |
M1K |
probably null |
Het |
Gdf3 |
C |
T |
6: 122,583,717 (GRCm39) |
V217I |
probably benign |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,292,397 (GRCm39) |
|
probably null |
Het |
Hrg |
G |
A |
16: 22,774,825 (GRCm39) |
V152I |
possibly damaging |
Het |
Itpkc |
T |
C |
7: 26,926,934 (GRCm39) |
T327A |
probably damaging |
Het |
Jade1 |
T |
C |
3: 41,555,845 (GRCm39) |
V304A |
probably damaging |
Het |
Leo1 |
C |
A |
9: 75,357,762 (GRCm39) |
|
probably benign |
Het |
Lrrc7 |
A |
T |
3: 157,866,042 (GRCm39) |
L1233Q |
probably damaging |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Matn2 |
C |
A |
15: 34,388,937 (GRCm39) |
Y342* |
probably null |
Het |
Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
Mlh3 |
T |
C |
12: 85,315,454 (GRCm39) |
H244R |
possibly damaging |
Het |
Mmaa |
A |
T |
8: 79,994,843 (GRCm39) |
V321E |
probably damaging |
Het |
Ntng1 |
T |
A |
3: 109,842,184 (GRCm39) |
L196F |
probably damaging |
Het |
Oas1e |
A |
G |
5: 120,932,205 (GRCm39) |
V146A |
probably damaging |
Het |
Or52z1 |
G |
T |
7: 103,437,241 (GRCm39) |
T81K |
probably benign |
Het |
Plcxd2 |
T |
C |
16: 45,800,864 (GRCm39) |
K120R |
probably damaging |
Het |
Prex2 |
G |
T |
1: 11,180,581 (GRCm39) |
C382F |
possibly damaging |
Het |
Psg29 |
T |
A |
7: 16,942,510 (GRCm39) |
H170Q |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,427,661 (GRCm39) |
T747A |
probably damaging |
Het |
Qki |
G |
A |
17: 10,435,394 (GRCm39) |
|
probably benign |
Het |
Rpusd2 |
A |
G |
2: 118,869,085 (GRCm39) |
T503A |
probably benign |
Het |
Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
Slco1a5 |
C |
T |
6: 142,194,370 (GRCm39) |
|
probably null |
Het |
Snap91 |
A |
T |
9: 86,657,665 (GRCm39) |
W509R |
probably damaging |
Het |
Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
Tmem267 |
A |
T |
13: 119,629,175 (GRCm39) |
|
probably null |
Het |
Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
Tnfaip8 |
C |
A |
18: 50,223,653 (GRCm39) |
H154N |
possibly damaging |
Het |
Trim35 |
T |
C |
14: 66,541,503 (GRCm39) |
L209P |
probably damaging |
Het |
Ttf1 |
A |
G |
2: 28,954,816 (GRCm39) |
E60G |
possibly damaging |
Het |
Ttf2 |
T |
C |
3: 100,849,136 (GRCm39) |
|
probably benign |
Het |
Tubg2 |
T |
C |
11: 101,051,224 (GRCm39) |
|
probably null |
Het |
Ubap1l |
C |
T |
9: 65,276,477 (GRCm39) |
|
probably benign |
Het |
Vmn1r222 |
A |
G |
13: 23,417,102 (GRCm39) |
V37A |
probably benign |
Het |
Vmn2r4 |
T |
A |
3: 64,322,572 (GRCm39) |
N49I |
probably damaging |
Het |
Zfp979 |
A |
T |
4: 147,697,588 (GRCm39) |
C374S |
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 |
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 |
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'- AAGTTACAGAGAGTGCTGCTC -3'
(R):5'- ACCCCTTGTTATATTCAGGTTGTG -3'
Sequencing Primer
(F):5'- CGTAGCTCTAATGTCTGAGGGAAG -3'
(R):5'- TCAGGTTGTGCAATAAAATGGAAC -3'
|
Genotyping |
Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transversion.
PCR Primers
R39630014_PCR_F: 5’- AAGTTACAGAGAGTGCTGCTC-3’
R39630014_PCR_R: 5’- ACCCCTTGTTATATTCAGGTTGTG-3’ Sequencing Primers
R39630014_SEQ_F: 5’- CGTAGCTCTAATGTCTGAGGGAAG-3’
R39630014_SEQ_R: 5’- TCAGGTTGTGCAATAAAATGGAAC-3’
PCR program
1) 94°C 2:00
2) 94°C 0:30
3) 55°C 0:30
4) 72°C 1:00
5) repeat steps (2-4) 40X
6) 72°C 10:00
7) 4°C hold The following sequence of 409 nucleotides is amplified (NCBI RefSeq: NC_000070, chromosome 4:137633208-137633616): aagttacaga gagtgctgct cgcagtgcaa ggtgcgtagc tctaatgtct gagggaagga
aaggtttgcc cctccctggg gtgggggggt gcctgtgacc agtgcgggtc ggctgacggc
ttccatcttt ttcagatact agaacgagaa ggtgaagaaa acgaagcctt gcataagatg
atagcaaacg agcagaagac ctcacttcca aacttgttcc aggacaaaaa cagaccatgt
ctcagtaact ggccagaggt actgattgcc cgcagcttta aaggcctctg cagatttttg
tgaggtcaac ctggccttct tctccttctt cctcacttcc ttctctcatc gggaggcaca
ccagctcact agttccattt tattgcacaa cctgaatata acaaggggt Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. + strand, A>T).
|
Posted On |
2015-04-29 |