Incidental Mutation 'R4633:Usp48'
ID |
397134 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp48
|
Ensembl Gene |
ENSMUSG00000043411 |
Gene Name |
ubiquitin specific peptidase 48 |
Synonyms |
Usp31, 2810449C13Rik, D330022K21Rik |
MMRRC Submission |
041898-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.953)
|
Stock # |
R4633 (G1)
|
Quality Score |
184 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
137321079-137385842 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 137362211 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 32
(K32R)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055131]
[ENSMUST00000105840]
[ENSMUST00000141628]
|
AlphaFold |
Q3V0C5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055131
AA Change: K758R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000055016 Gene: ENSMUSG00000043411 AA Change: K758R
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
AA Change: K760R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101466 Gene: ENSMUSG00000043411 AA Change: K760R
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 benign
Transcript: ENSMUST00000128065
|
SMART Domains |
Protein: ENSMUSP00000115533 Gene: ENSMUSG00000043411
Domain | Start | End | E-Value | Type |
Blast:DUSP
|
9 |
111 |
2e-13 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131755
AA Change: K32R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
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 |
unknown
Transcript: ENSMUST00000141628
AA Change: S9G
|
SMART Domains |
Protein: ENSMUSP00000119691 Gene: ENSMUSG00000043411 AA Change: S9G
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 |
0.0790 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
95% (73/77) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,606,503 (GRCm39) |
L786Q |
probably null |
Het |
Abcb6 |
A |
T |
1: 75,154,426 (GRCm39) |
|
probably benign |
Het |
Alg10b |
T |
C |
15: 90,112,497 (GRCm39) |
V447A |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
B4galt7 |
A |
G |
13: 55,756,563 (GRCm39) |
H203R |
probably damaging |
Het |
Cd44 |
T |
G |
2: 102,683,392 (GRCm39) |
D214A |
possibly damaging |
Het |
Ces1c |
T |
C |
8: 93,845,014 (GRCm39) |
D275G |
probably benign |
Het |
Cnot11 |
G |
T |
1: 39,575,299 (GRCm39) |
W127L |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,052,620 (GRCm39) |
I2168T |
probably damaging |
Het |
Cyp3a59 |
T |
C |
5: 146,031,248 (GRCm39) |
F137S |
probably damaging |
Het |
Dst |
T |
A |
1: 34,209,515 (GRCm39) |
L1234Q |
probably damaging |
Het |
Erbb2 |
T |
A |
11: 98,323,814 (GRCm39) |
I676N |
possibly damaging |
Het |
Erlin1 |
G |
A |
19: 44,029,204 (GRCm39) |
R243C |
probably damaging |
Het |
Fanci |
T |
C |
7: 79,076,990 (GRCm39) |
L576P |
probably damaging |
Het |
Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
Glg1 |
C |
T |
8: 111,904,276 (GRCm39) |
|
probably null |
Het |
Gpr139 |
A |
T |
7: 118,743,628 (GRCm39) |
I319N |
probably damaging |
Het |
Hectd4 |
C |
A |
5: 121,487,279 (GRCm39) |
H3425N |
probably benign |
Het |
Itga10 |
A |
G |
3: 96,555,020 (GRCm39) |
D118G |
possibly damaging |
Het |
Klra13-ps |
T |
G |
6: 130,268,136 (GRCm39) |
|
noncoding transcript |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Krt5 |
T |
A |
15: 101,620,042 (GRCm39) |
D225V |
probably damaging |
Het |
Krtap4-9 |
G |
T |
11: 99,676,380 (GRCm39) |
|
probably benign |
Het |
Lama1 |
C |
A |
17: 68,105,579 (GRCm39) |
A2029E |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,291,761 (GRCm39) |
T3473S |
probably benign |
Het |
Lrrc37 |
A |
T |
11: 103,509,957 (GRCm39) |
|
probably benign |
Het |
Lrriq1 |
G |
A |
10: 103,036,424 (GRCm39) |
R910* |
probably null |
Het |
Map1b |
C |
T |
13: 99,571,450 (GRCm39) |
V424M |
probably damaging |
Het |
Mrtfb |
T |
C |
16: 13,197,737 (GRCm39) |
I85T |
possibly damaging |
Het |
Mylk2 |
T |
C |
2: 152,759,335 (GRCm39) |
S369P |
probably benign |
Het |
Myom3 |
T |
G |
4: 135,503,010 (GRCm39) |
F362L |
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,699,684 (GRCm39) |
|
probably benign |
Het |
Or10s1 |
T |
A |
9: 39,985,630 (GRCm39) |
V13E |
probably damaging |
Het |
Or1p1 |
T |
G |
11: 74,180,120 (GRCm39) |
M216R |
probably benign |
Het |
Or2l13b |
C |
T |
16: 19,349,034 (GRCm39) |
G212D |
possibly damaging |
Het |
Or2w4 |
A |
G |
13: 21,795,398 (GRCm39) |
V247A |
probably damaging |
Het |
Parp4 |
C |
T |
14: 56,885,048 (GRCm39) |
L1376F |
unknown |
Het |
Phykpl |
C |
A |
11: 51,484,435 (GRCm39) |
A208E |
probably damaging |
Het |
Pla2g15 |
T |
C |
8: 106,886,887 (GRCm39) |
F126S |
probably damaging |
Het |
Polq |
T |
G |
16: 36,868,904 (GRCm39) |
M479R |
probably damaging |
Het |
Prpf4b |
A |
G |
13: 35,084,425 (GRCm39) |
T938A |
probably damaging |
Het |
Psma1 |
A |
G |
7: 113,870,369 (GRCm39) |
M63T |
probably damaging |
Het |
Rbpms2 |
T |
C |
9: 65,558,918 (GRCm39) |
S174P |
probably benign |
Het |
Rcc1 |
G |
T |
4: 132,063,080 (GRCm39) |
S162R |
probably damaging |
Het |
Rev3l |
T |
G |
10: 39,722,182 (GRCm39) |
L2520R |
probably damaging |
Het |
Rhobtb1 |
T |
A |
10: 69,085,443 (GRCm39) |
|
probably null |
Het |
Rps19 |
G |
T |
7: 24,588,595 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Selenof |
C |
T |
3: 144,302,622 (GRCm39) |
R116* |
probably null |
Het |
Slc16a11 |
T |
C |
11: 70,107,205 (GRCm39) |
|
probably null |
Het |
Stk3 |
A |
G |
15: 34,959,074 (GRCm39) |
V296A |
probably damaging |
Het |
Taar8b |
C |
A |
10: 23,968,150 (GRCm39) |
E15* |
probably null |
Het |
Tas2r102 |
T |
A |
6: 132,739,642 (GRCm39) |
N183K |
possibly damaging |
Het |
Tet2 |
T |
A |
3: 133,191,310 (GRCm39) |
E1041D |
probably benign |
Het |
Tm9sf1 |
A |
G |
14: 55,878,660 (GRCm39) |
V244A |
probably damaging |
Het |
Trgc4 |
G |
T |
13: 19,536,457 (GRCm39) |
V172F |
probably benign |
Het |
Trim24 |
T |
A |
6: 37,933,371 (GRCm39) |
I650K |
probably damaging |
Het |
Trim59 |
G |
T |
3: 68,944,747 (GRCm39) |
Q198K |
probably benign |
Het |
Ttc28 |
C |
T |
5: 111,371,867 (GRCm39) |
T772I |
probably damaging |
Het |
Tvp23a |
C |
T |
16: 10,244,909 (GRCm39) |
V146M |
probably benign |
Het |
Usp17la |
A |
T |
7: 104,509,428 (GRCm39) |
D11V |
possibly damaging |
Het |
Uspl1 |
A |
G |
5: 149,151,202 (GRCm39) |
K801E |
probably damaging |
Het |
Utp20 |
T |
C |
10: 88,588,814 (GRCm39) |
I2452V |
probably benign |
Het |
Vps18 |
T |
C |
2: 119,123,757 (GRCm39) |
L228P |
probably damaging |
Het |
Yju2b |
T |
C |
8: 84,987,024 (GRCm39) |
T158A |
probably benign |
Het |
Zfp410 |
A |
T |
12: 84,372,510 (GRCm39) |
D112V |
probably damaging |
Het |
Zfp872 |
G |
T |
9: 22,108,490 (GRCm39) |
|
probably null |
Het |
Zswim8 |
A |
G |
14: 20,768,891 (GRCm39) |
E1110G |
probably 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 |
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'- TGAACATGCATGCACATACTCC -3'
(R):5'- AGTGAGCGCATTCCTAATGG -3'
Sequencing Primer
(F):5'- TGTGGTGGCAAACAAATCCC -3'
(R):5'- TCCTAATGGAAATCCCCTGGC -3'
|
Posted On |
2016-06-24 |