Incidental Mutation 'R0423:Usp48'
| ID |
38575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp48
|
| Ensembl Gene |
ENSMUSG00000043411 |
| Gene Name |
ubiquitin specific peptidase 48 |
| Synonyms |
Usp31, 2810449C13Rik, D330022K21Rik |
| MMRRC Submission |
038625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R0423 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
137321079-137385842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 137343722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 452
(V452L)
|
| 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: V451L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: V451L
| 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: V452L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101465
Gene: ENSMUSG00000043411
AA Change: V452L
| 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: V452L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: V452L
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154395
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 91.9%
|
| Validation Efficiency |
99% (84/85) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,261,825 (GRCm39) |
|
noncoding transcript |
Het |
| A630001G21Rik |
A |
G |
1: 85,654,187 (GRCm39) |
I50T |
probably benign |
Het |
| Abhd12 |
T |
C |
2: 150,680,312 (GRCm39) |
T264A |
possibly damaging |
Het |
| Acsm3 |
T |
C |
7: 119,376,382 (GRCm39) |
Y370H |
probably damaging |
Het |
| Ank2 |
G |
T |
3: 126,723,509 (GRCm39) |
Y3789* |
probably null |
Het |
| Anxa4 |
C |
T |
6: 86,737,719 (GRCm39) |
A1T |
probably damaging |
Het |
| Apba1 |
T |
A |
19: 23,922,362 (GRCm39) |
V810D |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,989,778 (GRCm39) |
I104T |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 75,003,292 (GRCm39) |
Y4721H |
probably damaging |
Het |
| Bmpr2 |
A |
G |
1: 59,907,669 (GRCm39) |
T921A |
probably benign |
Het |
| Ccdc102a |
A |
C |
8: 95,632,554 (GRCm39) |
|
probably benign |
Het |
| Ccdc141 |
C |
A |
2: 76,869,794 (GRCm39) |
D904Y |
probably damaging |
Het |
| Ccdc96 |
A |
G |
5: 36,642,591 (GRCm39) |
K199R |
probably benign |
Het |
| Cdh10 |
G |
A |
15: 18,986,965 (GRCm39) |
V399I |
probably benign |
Het |
| Cenpk |
A |
G |
13: 104,370,733 (GRCm39) |
T85A |
probably benign |
Het |
| Col6a2 |
A |
C |
10: 76,450,751 (GRCm39) |
V60G |
possibly damaging |
Het |
| Cops7b |
A |
G |
1: 86,526,753 (GRCm39) |
D119G |
probably benign |
Het |
| Cstf2t |
A |
G |
19: 31,061,676 (GRCm39) |
E404G |
possibly damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,630,052 (GRCm39) |
V134E |
probably damaging |
Het |
| Cwh43 |
A |
C |
5: 73,574,085 (GRCm39) |
M250L |
probably benign |
Het |
| Daam2 |
T |
A |
17: 49,776,449 (GRCm39) |
K813* |
probably null |
Het |
| Dhcr24 |
G |
A |
4: 106,443,733 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
G |
T |
17: 30,920,955 (GRCm39) |
R1182L |
probably benign |
Het |
| Doc2a |
C |
T |
7: 126,447,830 (GRCm39) |
P25S |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,317,116 (GRCm39) |
S6823G |
possibly damaging |
Het |
| Espl1 |
T |
A |
15: 102,212,421 (GRCm39) |
L509* |
probably null |
Het |
| Fbxw19 |
C |
T |
9: 109,315,134 (GRCm39) |
V143I |
probably benign |
Het |
| Fbxw5 |
A |
G |
2: 25,394,538 (GRCm39) |
T171A |
possibly damaging |
Het |
| Gfra2 |
C |
T |
14: 71,133,521 (GRCm39) |
T117M |
probably damaging |
Het |
| Gm454 |
T |
A |
5: 138,202,403 (GRCm39) |
|
noncoding transcript |
Het |
| Ilrun |
A |
C |
17: 28,005,207 (GRCm39) |
Y117D |
probably damaging |
Het |
| Kcnq4 |
A |
G |
4: 120,574,705 (GRCm39) |
S120P |
probably damaging |
Het |
| Krt84 |
A |
T |
15: 101,437,155 (GRCm39) |
L336Q |
probably damaging |
Het |
| Lilra6 |
T |
A |
7: 3,917,774 (GRCm39) |
|
probably benign |
Het |
| Mbnl2 |
G |
A |
14: 120,562,736 (GRCm39) |
R29H |
probably damaging |
Het |
| Mcm3ap |
G |
A |
10: 76,338,539 (GRCm39) |
G1389D |
probably benign |
Het |
| Mettl13 |
A |
T |
1: 162,371,954 (GRCm39) |
I305N |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,238,548 (GRCm39) |
S30P |
probably benign |
Het |
| Myh7 |
T |
A |
14: 55,216,646 (GRCm39) |
Q1237L |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,802,619 (GRCm39) |
D2035E |
probably damaging |
Het |
| Nat10 |
A |
G |
2: 103,578,572 (GRCm39) |
S211P |
probably damaging |
Het |
| Ntm |
T |
C |
9: 29,090,395 (GRCm39) |
Y108C |
probably damaging |
Het |
| Or14c39 |
T |
C |
7: 86,344,434 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Or7g25 |
A |
T |
9: 19,160,248 (GRCm39) |
L149* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,613,422 (GRCm39) |
D794G |
probably benign |
Het |
| Phlpp1 |
A |
G |
1: 106,267,345 (GRCm39) |
T753A |
probably benign |
Het |
| Pierce1 |
T |
C |
2: 28,356,036 (GRCm39) |
|
probably benign |
Het |
| Pnldc1 |
T |
C |
17: 13,108,963 (GRCm39) |
Q511R |
possibly damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,689,152 (GRCm39) |
S38P |
possibly damaging |
Het |
| Pygb |
A |
G |
2: 150,665,904 (GRCm39) |
K593E |
probably benign |
Het |
| Rangap1 |
A |
T |
15: 81,589,664 (GRCm39) |
F564I |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,803,381 (GRCm39) |
I498F |
possibly damaging |
Het |
| Rnase12 |
A |
T |
14: 51,294,613 (GRCm39) |
V22D |
probably benign |
Het |
| Rpl7l1 |
T |
A |
17: 47,091,324 (GRCm39) |
M93L |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,776,103 (GRCm39) |
R1396G |
possibly damaging |
Het |
| Snx19 |
C |
A |
9: 30,347,133 (GRCm39) |
T692N |
probably damaging |
Het |
| Spag6 |
A |
G |
2: 18,715,404 (GRCm39) |
D61G |
probably benign |
Het |
| Spen |
T |
A |
4: 141,206,647 (GRCm39) |
N660I |
unknown |
Het |
| Sptan1 |
T |
G |
2: 29,918,684 (GRCm39) |
C2246G |
probably null |
Het |
| Svopl |
A |
G |
6: 38,013,642 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
T |
15: 54,928,078 (GRCm39) |
N108K |
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,893,079 (GRCm39) |
D703G |
probably damaging |
Het |
| Tle6 |
G |
T |
10: 81,434,457 (GRCm39) |
N47K |
possibly damaging |
Het |
| Ust |
A |
T |
10: 8,173,912 (GRCm39) |
S198T |
probably damaging |
Het |
| Wnk2 |
T |
A |
13: 49,248,894 (GRCm39) |
M386L |
possibly damaging |
Het |
| Ywhaq |
T |
C |
12: 21,441,382 (GRCm39) |
|
probably benign |
Het |
| Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
| Zfp316 |
A |
G |
5: 143,238,993 (GRCm39) |
S1009P |
probably damaging |
Het |
| Zfp963 |
A |
G |
8: 70,197,156 (GRCm39) |
Y29H |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,776,112 (GRCm39) |
|
probably benign |
Het |
| Zranb3 |
A |
G |
1: 128,019,607 (GRCm39) |
I45T |
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 |
|
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 |
137,366,606 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1367:Usp48
|
UTSW |
4 |
137,371,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGGCGGTCCCATTTGTTAGAGC -3'
(R):5'- AACCCCAGGCATTCAATGGCAATAG -3'
Sequencing Primer
(F):5'- CTTCGTCCTGGAGGTCTAGTAAAAG -3'
(R):5'- CAATGGCAATAGTGTCGTCC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation