Incidental Mutation 'R9520:Usp48'
ID |
718806 |
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 # |
R9520 (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: 99.7%
- 20x: 99.1%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
Ackr3 |
T |
A |
1: 90,141,971 (GRCm39) |
Y143* |
probably null |
Het |
Actn1 |
A |
T |
12: 80,240,417 (GRCm39) |
D223E |
probably damaging |
Het |
Apcdd1 |
C |
T |
18: 63,083,190 (GRCm39) |
T340I |
possibly damaging |
Het |
B4galnt1 |
G |
A |
10: 127,006,580 (GRCm39) |
E375K |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,651,799 (GRCm39) |
S127T |
probably damaging |
Het |
Cbr3 |
A |
G |
16: 93,487,318 (GRCm39) |
D167G |
probably benign |
Het |
Cdcp1 |
A |
T |
9: 123,012,736 (GRCm39) |
N270K |
possibly damaging |
Het |
Cep131 |
A |
G |
11: 119,968,157 (GRCm39) |
V128A |
probably benign |
Het |
Cfhr4 |
A |
G |
1: 139,682,135 (GRCm39) |
S154P |
probably damaging |
Het |
Chek1 |
T |
C |
9: 36,625,121 (GRCm39) |
E320G |
probably benign |
Het |
Cit |
T |
A |
5: 116,079,954 (GRCm39) |
L755* |
probably null |
Het |
Clstn2 |
A |
T |
9: 97,414,763 (GRCm39) |
L377Q |
probably damaging |
Het |
Cpne9 |
A |
T |
6: 113,281,413 (GRCm39) |
D498V |
probably damaging |
Het |
Csad |
A |
G |
15: 102,097,102 (GRCm39) |
M1T |
probably null |
Het |
Csmd3 |
A |
G |
15: 47,561,608 (GRCm39) |
F1323L |
|
Het |
Dennd2c |
A |
T |
3: 103,044,484 (GRCm39) |
Q355L |
probably benign |
Het |
Fbxw10 |
G |
A |
11: 62,750,842 (GRCm39) |
S475N |
possibly damaging |
Het |
Foxi3 |
A |
G |
6: 70,937,676 (GRCm39) |
S303G |
probably damaging |
Het |
Glra1 |
G |
C |
11: 55,405,897 (GRCm39) |
F372L |
probably benign |
Het |
Gm19410 |
A |
G |
8: 36,262,637 (GRCm39) |
E858G |
probably benign |
Het |
Gm7168 |
T |
A |
17: 14,169,506 (GRCm39) |
V291D |
probably benign |
Het |
Gpr15lg |
T |
A |
14: 36,829,343 (GRCm39) |
T47S |
possibly damaging |
Het |
Grin2b |
T |
C |
6: 135,710,399 (GRCm39) |
Y1049C |
probably damaging |
Het |
Grm2 |
A |
G |
9: 106,525,230 (GRCm39) |
L24P |
|
Het |
Guca1a |
T |
A |
17: 47,711,335 (GRCm39) |
I4F |
probably benign |
Het |
H6pd |
T |
C |
4: 150,080,375 (GRCm39) |
I157V |
possibly damaging |
Het |
Hectd3 |
T |
A |
4: 116,857,882 (GRCm39) |
M605K |
probably damaging |
Het |
Hsf2 |
T |
A |
10: 57,371,996 (GRCm39) |
N32K |
probably damaging |
Het |
Hspa1l |
T |
A |
17: 35,196,972 (GRCm39) |
V337D |
probably damaging |
Het |
Iigp1 |
A |
T |
18: 60,523,451 (GRCm39) |
T190S |
probably benign |
Het |
Iqgap1 |
T |
C |
7: 80,393,869 (GRCm39) |
R622G |
probably benign |
Het |
Lce1a1 |
A |
T |
3: 92,554,109 (GRCm39) |
C122S |
unknown |
Het |
Lrfn4 |
C |
T |
19: 4,664,237 (GRCm39) |
R99H |
probably damaging |
Het |
Lsm1 |
T |
A |
8: 26,283,744 (GRCm39) |
V52E |
possibly damaging |
Het |
Malrd1 |
G |
A |
2: 16,079,631 (GRCm39) |
V1783I |
unknown |
Het |
Mast4 |
T |
C |
13: 102,925,532 (GRCm39) |
K464R |
probably damaging |
Het |
Mpdz |
T |
C |
4: 81,304,555 (GRCm39) |
D115G |
probably benign |
Het |
Mtmr3 |
A |
T |
11: 4,441,131 (GRCm39) |
H507Q |
probably damaging |
Het |
Mycbp2 |
T |
A |
14: 103,497,705 (GRCm39) |
M956L |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,062,753 (GRCm39) |
T346A |
possibly damaging |
Het |
Ndrg2 |
T |
C |
14: 52,146,381 (GRCm39) |
I140V |
probably benign |
Het |
Nsf |
A |
G |
11: 103,804,709 (GRCm39) |
L144P |
probably damaging |
Het |
Or2a25 |
T |
C |
6: 42,889,051 (GRCm39) |
V198A |
probably damaging |
Het |
Or8d2b |
C |
T |
9: 38,789,039 (GRCm39) |
T189I |
probably benign |
Het |
Pck1 |
G |
A |
2: 172,997,854 (GRCm39) |
V308M |
probably damaging |
Het |
Phip |
C |
T |
9: 82,753,437 (GRCm39) |
R1769K |
possibly damaging |
Het |
Plekhg1 |
T |
A |
10: 3,906,822 (GRCm39) |
C635S |
|
Het |
Ppp4r4 |
A |
G |
12: 103,500,378 (GRCm39) |
I58V |
probably benign |
Het |
Prkacb |
T |
C |
3: 146,456,289 (GRCm39) |
Y170C |
probably damaging |
Het |
Rnf145 |
A |
T |
11: 44,452,336 (GRCm39) |
E438D |
possibly damaging |
Het |
Rnf207 |
T |
C |
4: 152,396,234 (GRCm39) |
Y510C |
probably damaging |
Het |
Rph3a |
C |
T |
5: 121,101,903 (GRCm39) |
C111Y |
probably damaging |
Het |
Scaf8 |
C |
T |
17: 3,248,285 (GRCm39) |
R1203W |
probably damaging |
Het |
Sec23a |
T |
G |
12: 59,031,974 (GRCm39) |
I448L |
probably benign |
Het |
Slc22a27 |
T |
C |
19: 7,843,227 (GRCm39) |
Y492C |
possibly damaging |
Het |
Supv3l1 |
T |
C |
10: 62,268,181 (GRCm39) |
K555E |
probably damaging |
Het |
Tdrd3 |
T |
C |
14: 87,724,696 (GRCm39) |
S372P |
probably damaging |
Het |
Tgm1 |
A |
G |
14: 55,942,296 (GRCm39) |
F685S |
probably damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,201,455 (GRCm39) |
T350A |
probably benign |
Het |
Vmn2r25 |
A |
T |
6: 123,830,066 (GRCm39) |
Y28* |
probably null |
Het |
Vmn2r85 |
T |
A |
10: 130,254,993 (GRCm39) |
I564L |
probably benign |
Het |
Wdr26 |
G |
T |
1: 181,036,587 (GRCm39) |
T183K |
probably benign |
Het |
Yjefn3 |
A |
T |
8: 70,341,969 (GRCm39) |
Y97N |
probably damaging |
Het |
Zbtb38 |
A |
T |
9: 96,568,104 (GRCm39) |
D993E |
probably damaging |
Het |
Zbtb45 |
T |
C |
7: 12,742,012 (GRCm39) |
Q82R |
probably damaging |
Het |
Zdhhc8 |
A |
G |
16: 18,045,044 (GRCm39) |
V254A |
probably benign |
Het |
Zfp648 |
A |
G |
1: 154,081,221 (GRCm39) |
D460G |
probably benign |
Het |
Zfp760 |
T |
G |
17: 21,941,036 (GRCm39) |
N70K |
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 |
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 |
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 |
2022-07-18 |