Incidental Mutation 'R6977:Usp48'
| ID |
542498 |
| 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 # |
R6977 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
137321079-137385842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137377671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 232
(D232G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055131]
[ENSMUST00000105840]
[ENSMUST00000141628]
|
| AlphaFold |
Q3V0C5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055131
AA Change: D1001G
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: D1001G
| 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: D985G
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: D985G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000118084
Gene: ENSMUSG00000043411
AA Change: D109G
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
63 |
131 |
4.78e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141628
AA Change: D232G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119691
Gene: ENSMUSG00000043411
AA Change: D232G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
UBQ
|
185 |
253 |
4.78e-1 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000115526
Gene: ENSMUSG00000043411
AA Change: D75G
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
29 |
97 |
4.78e-1 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000117989
Gene: ENSMUSG00000043411
AA Change: D47G
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
1 |
69 |
9.53e-2 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000118081
Gene: ENSMUSG00000043411
AA Change: D20G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBQ
|
2 |
42 |
5e-22 |
BLAST |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
G |
A |
13: 59,839,394 (GRCm39) |
S17L |
possibly damaging |
Het |
| Acap2 |
G |
T |
16: 30,936,079 (GRCm39) |
T336K |
probably damaging |
Het |
| Angptl7 |
A |
T |
4: 148,581,850 (GRCm39) |
W179R |
probably damaging |
Het |
| Atp9b |
A |
G |
18: 80,796,317 (GRCm39) |
F909L |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,486 (GRCm39) |
Y66* |
probably null |
Het |
| C8b |
A |
G |
4: 104,644,193 (GRCm39) |
T287A |
possibly damaging |
Het |
| Camk2a |
G |
A |
18: 61,093,076 (GRCm39) |
G301E |
probably damaging |
Het |
| Ccdc186 |
A |
G |
19: 56,787,219 (GRCm39) |
M583T |
probably benign |
Het |
| Cd55b |
T |
A |
1: 130,347,528 (GRCm39) |
K94N |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,704,914 (GRCm39) |
S466P |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,410,742 (GRCm39) |
|
probably null |
Het |
| Cep70 |
A |
G |
9: 99,173,729 (GRCm39) |
D420G |
probably damaging |
Het |
| Cnih4 |
T |
C |
1: 180,989,713 (GRCm39) |
S48P |
possibly damaging |
Het |
| Cpne8 |
T |
C |
15: 90,381,294 (GRCm39) |
K507E |
probably benign |
Het |
| Cyp2b23 |
T |
C |
7: 26,380,745 (GRCm39) |
Y160C |
possibly damaging |
Het |
| Dnah9 |
C |
A |
11: 65,998,735 (GRCm39) |
M1104I |
probably benign |
Het |
| Fam135a |
T |
A |
1: 24,093,179 (GRCm39) |
N149I |
probably damaging |
Het |
| Fbxl4 |
A |
T |
4: 22,376,930 (GRCm39) |
Q122L |
probably benign |
Het |
| Gm11232 |
T |
C |
4: 71,676,178 (GRCm39) |
|
probably benign |
Het |
| Gm5901 |
A |
G |
7: 105,026,367 (GRCm39) |
Y45C |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,476,219 (GRCm39) |
I553F |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,436,530 (GRCm39) |
F631S |
probably damaging |
Het |
| Kics2 |
A |
G |
10: 121,581,371 (GRCm39) |
H124R |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,865,040 (GRCm39) |
D544G |
probably damaging |
Het |
| Klc2 |
G |
A |
19: 5,159,393 (GRCm39) |
R552C |
probably damaging |
Het |
| Lamp1 |
T |
C |
8: 13,223,661 (GRCm39) |
V293A |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,556,633 (GRCm39) |
D3220V |
unknown |
Het |
| Myb |
A |
T |
10: 21,028,551 (GRCm39) |
I104K |
probably damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,392,342 (GRCm39) |
R3227L |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,148,472 (GRCm39) |
L1053Q |
probably damaging |
Het |
| Nelfe |
T |
A |
17: 35,073,688 (GRCm39) |
V316E |
probably damaging |
Het |
| Noxred1 |
T |
C |
12: 87,268,091 (GRCm39) |
I347V |
probably null |
Het |
| Or8g50 |
A |
G |
9: 39,648,330 (GRCm39) |
Y73C |
probably benign |
Het |
| Plekha7 |
A |
G |
7: 115,735,202 (GRCm39) |
V1033A |
probably benign |
Het |
| Plekhh1 |
G |
C |
12: 79,112,491 (GRCm39) |
W589C |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,517,272 (GRCm39) |
F658L |
probably damaging |
Het |
| Prss55 |
A |
G |
14: 64,316,785 (GRCm39) |
M119T |
probably damaging |
Het |
| Rab28 |
G |
A |
5: 41,855,735 (GRCm39) |
Q87* |
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sdr16c6 |
A |
T |
4: 4,076,865 (GRCm39) |
F11L |
probably benign |
Het |
| Serpinb5 |
T |
G |
1: 106,800,077 (GRCm39) |
V89G |
probably benign |
Het |
| Slc12a9 |
A |
T |
5: 137,314,075 (GRCm39) |
V628E |
probably damaging |
Het |
| Slc25a34 |
G |
A |
4: 141,347,809 (GRCm39) |
R291C |
probably damaging |
Het |
| Slmap |
C |
T |
14: 26,254,574 (GRCm39) |
R36H |
probably damaging |
Het |
| Sybu |
A |
G |
15: 44,541,091 (GRCm39) |
S324P |
probably benign |
Het |
| Syk |
A |
T |
13: 52,787,094 (GRCm39) |
M363L |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,906,200 (GRCm39) |
V934A |
probably benign |
Het |
| Thpo |
A |
G |
16: 20,544,433 (GRCm39) |
L200P |
probably damaging |
Het |
| Tiam2 |
T |
A |
17: 3,568,934 (GRCm39) |
S1693R |
probably damaging |
Het |
| Wasf1 |
A |
G |
10: 40,802,581 (GRCm39) |
S79G |
probably damaging |
Het |
| Zfp90 |
G |
T |
8: 107,151,948 (GRCm39) |
D554Y |
probably damaging |
Het |
| Zfp90 |
A |
T |
8: 107,151,949 (GRCm39) |
D554V |
probably damaging |
Het |
| Zic5 |
T |
C |
14: 122,696,960 (GRCm39) |
T552A |
unknown |
Het |
| Zic5 |
CGACGAGTAG |
C |
14: 122,696,967 (GRCm39) |
|
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 |
|
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'- AGGCTGCTTGCTTCTGTACC -3'
(R):5'- TGTTCTGTCACCACTGCAGG -3'
Sequencing Primer
(F):5'- ACCGGTTTTGCCTTTGATTTTTACAG -3'
(R):5'- CTCTAATACTAGAGCCTGGTAAACAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation