Incidental Mutation 'R5955:Usp48'
| ID |
471100 |
| 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 # |
R5955 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
137321079-137385842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137343129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 426
(N426S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055131]
[ENSMUST00000105837]
[ENSMUST00000105838]
[ENSMUST00000105839]
[ENSMUST00000105840]
|
| AlphaFold |
Q3V0C5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055131
AA Change: N425S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: N425S
| 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: N426S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101465
Gene: ENSMUSG00000043411
AA Change: N426S
| 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: N426S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: N426S
| 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 |
noncoding transcript
Transcript: ENSMUST00000138599
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.7%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,801,629 (GRCm39) |
D632V |
probably damaging |
Het |
| Acbd6 |
C |
T |
1: 155,463,205 (GRCm39) |
A135V |
probably benign |
Het |
| Adam26a |
A |
T |
8: 44,022,889 (GRCm39) |
F200L |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,248,843 (GRCm39) |
N569K |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,234,560 (GRCm39) |
L640F |
probably damaging |
Het |
| Ampd2 |
A |
G |
3: 107,987,088 (GRCm39) |
V178A |
probably damaging |
Het |
| Anapc4 |
C |
G |
5: 53,023,288 (GRCm39) |
H710D |
probably benign |
Het |
| Atad2 |
T |
C |
15: 57,969,055 (GRCm39) |
I495V |
probably benign |
Het |
| Bhmt2 |
T |
C |
13: 93,799,705 (GRCm39) |
T244A |
probably benign |
Het |
| Capg |
T |
C |
6: 72,532,483 (GRCm39) |
V16A |
probably benign |
Het |
| Capn13 |
A |
G |
17: 73,637,997 (GRCm39) |
F469L |
possibly damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,533,877 (GRCm39) |
V430I |
probably benign |
Het |
| Cma1 |
A |
C |
14: 56,181,226 (GRCm39) |
Y47D |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,739,163 (GRCm39) |
L355Q |
probably damaging |
Het |
| Cripto |
C |
A |
9: 110,773,281 (GRCm39) |
R18L |
unknown |
Het |
| Crocc |
G |
T |
4: 140,745,229 (GRCm39) |
T1796K |
possibly damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,387 (GRCm39) |
|
probably null |
Het |
| Dsp |
T |
C |
13: 38,378,934 (GRCm39) |
I1294T |
possibly damaging |
Het |
| Erbin |
A |
T |
13: 103,966,700 (GRCm39) |
F1250Y |
probably benign |
Het |
| Fbn1 |
A |
C |
2: 125,200,802 (GRCm39) |
C1298W |
probably damaging |
Het |
| Fbn2 |
A |
C |
18: 58,177,328 (GRCm39) |
F1990V |
probably damaging |
Het |
| Fez2 |
A |
T |
17: 78,694,472 (GRCm39) |
V306D |
probably damaging |
Het |
| Gigyf1 |
G |
A |
5: 137,521,769 (GRCm39) |
|
probably null |
Het |
| Gjb4 |
A |
T |
4: 127,245,745 (GRCm39) |
Y65* |
probably null |
Het |
| Gm26661 |
G |
A |
14: 7,791,776 (GRCm38) |
A64T |
unknown |
Het |
| Igkv1-135 |
T |
C |
6: 67,587,263 (GRCm39) |
S45P |
possibly damaging |
Het |
| Il27 |
T |
C |
7: 126,194,070 (GRCm39) |
T5A |
probably benign |
Het |
| Il27ra |
T |
C |
8: 84,767,451 (GRCm39) |
D124G |
probably benign |
Het |
| Itgad |
A |
G |
7: 127,788,653 (GRCm39) |
H424R |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,904,161 (GRCm39) |
V258A |
possibly damaging |
Het |
| Kpna4 |
A |
G |
3: 68,997,134 (GRCm39) |
V351A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,839,267 (GRCm39) |
Q747R |
probably damaging |
Het |
| Map4k5 |
A |
G |
12: 69,891,164 (GRCm39) |
F168L |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,015,195 (GRCm39) |
Y843H |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,010,711 (GRCm39) |
M424V |
probably damaging |
Het |
| Mtrfr |
G |
T |
5: 124,478,837 (GRCm39) |
E153* |
probably null |
Het |
| Myb |
A |
G |
10: 21,028,398 (GRCm39) |
I155T |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,588,404 (GRCm39) |
V2445E |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,108,691 (GRCm39) |
I270N |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,895 (GRCm39) |
M250K |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,854,898 (GRCm39) |
N196K |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or52w1 |
C |
T |
7: 105,017,776 (GRCm39) |
A72V |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,178,618 (GRCm39) |
S96G |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,247,456 (GRCm39) |
N1025K |
possibly damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,613 (GRCm39) |
E185G |
probably damaging |
Het |
| Phactr4 |
A |
G |
4: 132,114,220 (GRCm39) |
F58S |
probably damaging |
Het |
| Phlpp1 |
T |
A |
1: 106,291,960 (GRCm39) |
|
probably null |
Het |
| Rab40c |
A |
C |
17: 26,103,631 (GRCm39) |
V144G |
probably damaging |
Het |
| Rnasel |
A |
G |
1: 153,630,146 (GRCm39) |
I221V |
probably benign |
Het |
| Rps6kb1 |
T |
C |
11: 86,404,431 (GRCm39) |
K241E |
probably damaging |
Het |
| Rrbp1 |
C |
G |
2: 143,791,597 (GRCm39) |
E1370Q |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,139,133 (GRCm39) |
Y2111H |
probably damaging |
Het |
| Samd8 |
A |
G |
14: 21,843,152 (GRCm39) |
H364R |
probably damaging |
Het |
| Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,246,153 (GRCm39) |
Y590H |
probably damaging |
Het |
| Shkbp1 |
T |
C |
7: 27,041,949 (GRCm39) |
N635S |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,869,383 (GRCm39) |
D1990G |
possibly damaging |
Het |
| Vmn2r16 |
G |
A |
5: 109,511,613 (GRCm39) |
V607M |
possibly damaging |
Het |
| Xdh |
A |
T |
17: 74,205,315 (GRCm39) |
V1050D |
probably damaging |
Het |
| Zfp110 |
C |
T |
7: 12,582,672 (GRCm39) |
T440I |
possibly 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 |
|
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 |
|
|
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'- AGGTTATGTACTGCCATGCTC -3'
(R):5'- AATGGGACCGCCAGTTGTTC -3'
Sequencing Primer
(F):5'- TACTGCCATGCTCCCCCAAC -3'
(R):5'- GCTTCAGTCATTCCAAAAGCTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation