Incidental Mutation 'R9296:Usp48'
| ID |
704594 |
| 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 # |
R9296 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 98.9%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxr1 |
T |
G |
6: 87,114,409 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,124,612 (GRCm39) |
Y951F |
probably damaging |
Het |
| Arhgap44 |
G |
T |
11: 64,957,933 (GRCm39) |
A83E |
probably damaging |
Het |
| Bmpr2 |
T |
C |
1: 59,906,502 (GRCm39) |
S532P |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,059,560 (GRCm39) |
I617V |
possibly damaging |
Het |
| Brsk2 |
A |
C |
7: 141,552,375 (GRCm39) |
S620R |
probably benign |
Het |
| C3 |
T |
C |
17: 57,511,291 (GRCm39) |
M1604V |
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,564,068 (GRCm39) |
R917H |
probably damaging |
Het |
| Ccdc17 |
T |
A |
4: 116,456,586 (GRCm39) |
F452I |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,883,467 (GRCm39) |
I235V |
probably null |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Ciita |
G |
A |
16: 10,321,812 (GRCm39) |
|
probably null |
Het |
| Cxcl10 |
T |
C |
5: 92,495,997 (GRCm39) |
K47E |
probably damaging |
Het |
| Cyp2d12 |
C |
T |
15: 82,440,435 (GRCm39) |
Q75* |
probably null |
Het |
| Cyp4f18 |
C |
T |
8: 72,756,301 (GRCm39) |
V92M |
probably benign |
Het |
| D930020B18Rik |
A |
G |
10: 121,497,011 (GRCm39) |
R149G |
possibly damaging |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dmtf1 |
A |
C |
5: 9,190,467 (GRCm39) |
D82E |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,996,011 (GRCm39) |
|
probably null |
Het |
| Eps15 |
T |
G |
4: 109,173,089 (GRCm39) |
D183E |
possibly damaging |
Het |
| Fbln5 |
A |
T |
12: 101,780,853 (GRCm39) |
I7K |
probably benign |
Het |
| Fermt3 |
C |
T |
19: 6,980,865 (GRCm39) |
E289K |
possibly damaging |
Het |
| Gm10762 |
T |
A |
2: 128,809,149 (GRCm39) |
R67W |
unknown |
Het |
| Gm5089 |
A |
G |
14: 122,673,554 (GRCm39) |
S56P |
unknown |
Het |
| H2-T5 |
C |
T |
17: 36,479,169 (GRCm39) |
G27R |
unknown |
Het |
| Itih1 |
A |
G |
14: 30,653,251 (GRCm39) |
F730L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,400,246 (GRCm39) |
H683R |
probably damaging |
Het |
| Mapk3 |
T |
A |
7: 126,363,518 (GRCm39) |
F297L |
|
Het |
| Mfap3l |
G |
A |
8: 61,124,615 (GRCm39) |
V286I |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,146,130 (GRCm39) |
K1396R |
possibly damaging |
Het |
| Mylk3 |
A |
T |
8: 86,085,561 (GRCm39) |
S324R |
probably benign |
Het |
| Ndufv3 |
T |
C |
17: 31,739,197 (GRCm39) |
S4P |
probably benign |
Het |
| Nebl |
A |
T |
2: 17,429,451 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,956,388 (GRCm39) |
S119T |
|
Het |
| Or6k4 |
A |
T |
1: 173,964,835 (GRCm39) |
H175L |
probably benign |
Het |
| Pcdhgb4 |
T |
A |
18: 37,853,777 (GRCm39) |
S57R |
probably benign |
Het |
| Pcyox1 |
A |
G |
6: 86,368,735 (GRCm39) |
L261P |
probably damaging |
Het |
| Plekhm3 |
G |
T |
1: 64,961,639 (GRCm39) |
H206N |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,562 (GRCm39) |
T1863A |
probably benign |
Het |
| Prl7c1 |
T |
A |
13: 27,962,812 (GRCm39) |
I64L |
probably benign |
Het |
| Psg17 |
A |
T |
7: 18,553,991 (GRCm39) |
N86K |
probably benign |
Het |
| Rab37 |
A |
G |
11: 115,045,065 (GRCm39) |
E14G |
probably benign |
Het |
| Rad54l2 |
T |
A |
9: 106,579,942 (GRCm39) |
K976N |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,334,621 (GRCm39) |
|
probably benign |
Het |
| Sdha |
A |
T |
13: 74,472,062 (GRCm39) |
D602E |
probably damaging |
Het |
| Slc22a30 |
T |
A |
19: 8,364,119 (GRCm39) |
T186S |
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,888,217 (GRCm39) |
C270* |
probably null |
Het |
| Slc6a4 |
T |
C |
11: 76,909,110 (GRCm39) |
V374A |
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,945,175 (GRCm39) |
D115G |
probably benign |
Het |
| Susd1 |
T |
C |
4: 59,427,865 (GRCm39) |
|
probably benign |
Het |
| Tor1a |
A |
T |
2: 30,851,104 (GRCm39) |
M286K |
probably damaging |
Het |
| Trim12c |
G |
T |
7: 103,994,185 (GRCm39) |
A223D |
|
Het |
| Usp32 |
A |
G |
11: 84,908,478 (GRCm39) |
I1076T |
probably damaging |
Het |
| Vmn2r101 |
G |
A |
17: 19,810,047 (GRCm39) |
D278N |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,387,138 (GRCm39) |
V4972I |
unknown |
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 |
|
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'- AACATCATCCTGGGTGGCTC -3'
(R):5'- CCTCAATCCCTAGCTGTAGC -3'
Sequencing Primer
(F):5'- ATCATCCTGGGTGGCTCTTTGC -3'
(R):5'- GCTGTAGCTTCTTGCCCTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation