Incidental Mutation 'R4952:Usp48'
| ID |
382045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp48
|
| Ensembl Gene |
ENSMUSG00000043411 |
| Gene Name |
ubiquitin specific peptidase 48 |
| Synonyms |
Usp31, 2810449C13Rik, D330022K21Rik |
| MMRRC Submission |
042549-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R4952 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
137321079-137385842 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to G
at 137334004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 139
(Y139*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055131]
[ENSMUST00000105838]
[ENSMUST00000105839]
[ENSMUST00000105840]
[ENSMUST00000153100]
|
| AlphaFold |
Q3V0C5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055131
AA Change: Y139*
|
| SMART Domains |
Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: Y139*
| 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: ENSMUST00000105838
|
| SMART Domains |
Protein: ENSMUSP00000101464
Gene: ENSMUSG00000043411
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUSP
|
1 |
30 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105839
AA Change: Y139*
|
| SMART Domains |
Protein: ENSMUSP00000101465
Gene: ENSMUSG00000043411
AA Change: Y139*
| 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 null
Transcript: ENSMUST00000105840
AA Change: Y139*
|
| SMART Domains |
Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: Y139*
| 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 |
probably benign
Transcript: ENSMUST00000153100
|
| SMART Domains |
Protein: ENSMUSP00000123154
Gene: ENSMUSG00000043411
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG_like
|
74 |
129 |
7e-34 |
BLAST |
|
PDB:4M5X|B
|
111 |
158 |
1e-7 |
PDB |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
99% (93/94) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
G |
5: 109,887,063 (GRCm39) |
|
probably null |
Het |
| 4933421I07Rik |
T |
C |
7: 42,097,083 (GRCm39) |
Y76C |
possibly damaging |
Het |
| Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,296,585 (GRCm39) |
M1444V |
probably benign |
Het |
| Amfr |
A |
G |
8: 94,699,787 (GRCm39) |
|
probably benign |
Het |
| Ankef1 |
A |
G |
2: 136,392,449 (GRCm39) |
E546G |
probably damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,482,982 (GRCm39) |
M977V |
probably benign |
Het |
| Ap3m1 |
A |
T |
14: 21,090,134 (GRCm39) |
S5T |
probably benign |
Het |
| Aqr |
C |
A |
2: 113,940,418 (GRCm39) |
D1243Y |
probably damaging |
Het |
| Arhgef2 |
T |
C |
3: 88,549,769 (GRCm39) |
L591P |
probably damaging |
Het |
| Arid4a |
C |
A |
12: 71,070,299 (GRCm39) |
T70K |
possibly damaging |
Het |
| Asphd1 |
C |
T |
7: 126,547,857 (GRCm39) |
A149T |
probably benign |
Het |
| Avpr1a |
T |
A |
10: 122,285,659 (GRCm39) |
M317K |
probably damaging |
Het |
| Birc2 |
T |
C |
9: 7,836,741 (GRCm39) |
I109V |
probably damaging |
Het |
| Catsperd |
A |
G |
17: 56,939,303 (GRCm39) |
Y44C |
probably damaging |
Het |
| Crygb |
T |
G |
1: 65,121,268 (GRCm39) |
S20R |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,334 (GRCm39) |
N237S |
probably benign |
Het |
| Dkk3 |
C |
T |
7: 111,717,558 (GRCm39) |
A304T |
probably benign |
Het |
| Dst |
T |
C |
1: 34,310,503 (GRCm39) |
L4101S |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,126,968 (GRCm39) |
N1407S |
possibly damaging |
Het |
| Epb41 |
A |
G |
4: 131,727,581 (GRCm39) |
V265A |
probably damaging |
Het |
| Faim2 |
C |
T |
15: 99,419,109 (GRCm39) |
E75K |
possibly damaging |
Het |
| Fam237b |
T |
A |
5: 5,625,387 (GRCm39) |
F28I |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,159,454 (GRCm39) |
D2208V |
probably damaging |
Het |
| Fbxo28 |
A |
G |
1: 182,153,950 (GRCm39) |
S129P |
probably damaging |
Het |
| Fbxw14 |
T |
A |
9: 109,105,269 (GRCm39) |
I299L |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,795,357 (GRCm39) |
A1050V |
probably benign |
Het |
| Fyb1 |
C |
A |
15: 6,668,292 (GRCm39) |
T495K |
probably damaging |
Het |
| Ghdc |
A |
T |
11: 100,659,977 (GRCm39) |
W257R |
probably damaging |
Het |
| Gm10719 |
T |
C |
9: 3,018,962 (GRCm39) |
L69S |
probably benign |
Het |
| Gm12250 |
G |
T |
11: 58,079,210 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4846 |
A |
T |
1: 166,311,503 (GRCm39) |
F452Y |
probably damaging |
Het |
| Gpbp1 |
T |
C |
13: 111,577,284 (GRCm39) |
D202G |
probably damaging |
Het |
| Gpd2 |
C |
A |
2: 57,197,025 (GRCm39) |
Y193* |
probably null |
Het |
| Grhl2 |
G |
T |
15: 37,287,493 (GRCm39) |
R229L |
probably benign |
Het |
| Gtf2a1 |
A |
G |
12: 91,542,523 (GRCm39) |
F59L |
possibly damaging |
Het |
| Heatr1 |
G |
T |
13: 12,425,480 (GRCm39) |
W640L |
probably benign |
Het |
| Kalrn |
A |
T |
16: 34,177,785 (GRCm39) |
|
probably null |
Het |
| Keap1 |
T |
C |
9: 21,148,582 (GRCm39) |
T142A |
probably damaging |
Het |
| Kpna2 |
G |
A |
11: 106,882,061 (GRCm39) |
T255M |
probably damaging |
Het |
| Kpna3 |
A |
G |
14: 61,607,838 (GRCm39) |
C456R |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,074,561 (GRCm39) |
|
probably null |
Het |
| Lrrc37 |
T |
C |
11: 103,505,033 (GRCm39) |
T2312A |
possibly damaging |
Het |
| Mag |
C |
A |
7: 30,608,581 (GRCm39) |
E178* |
probably null |
Het |
| Map3k13 |
A |
G |
16: 21,729,769 (GRCm39) |
I467V |
probably benign |
Het |
| Mga |
A |
G |
2: 119,733,782 (GRCm39) |
E210G |
probably damaging |
Het |
| Msi2 |
C |
T |
11: 88,257,610 (GRCm39) |
|
probably null |
Het |
| Naa16 |
A |
T |
14: 79,582,525 (GRCm39) |
D521E |
probably damaging |
Het |
| Nav2 |
C |
T |
7: 48,954,288 (GRCm39) |
|
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Nek5 |
T |
C |
8: 22,586,815 (GRCm39) |
K332R |
probably benign |
Het |
| Nek5 |
T |
A |
8: 22,569,104 (GRCm39) |
I573L |
probably benign |
Het |
| Ntn1 |
CCTTCTTCT |
CCTTCT |
11: 68,103,852 (GRCm39) |
|
probably benign |
Het |
| Odad1 |
A |
C |
7: 45,591,615 (GRCm39) |
E293A |
probably damaging |
Het |
| Or2w1 |
G |
A |
13: 21,317,514 (GRCm39) |
V190I |
probably benign |
Het |
| Or5v1b |
A |
T |
17: 37,841,641 (GRCm39) |
T258S |
possibly damaging |
Het |
| Or6c204 |
T |
A |
10: 129,022,466 (GRCm39) |
T275S |
probably benign |
Het |
| Or8b12b |
T |
A |
9: 37,684,360 (GRCm39) |
M135K |
probably damaging |
Het |
| Orai1 |
T |
G |
5: 123,167,313 (GRCm39) |
V162G |
probably damaging |
Het |
| P2rx6 |
T |
C |
16: 17,385,308 (GRCm39) |
S134P |
probably damaging |
Het |
| Pappa2 |
G |
A |
1: 158,684,706 (GRCm39) |
T811I |
probably null |
Het |
| Pcdhga10 |
T |
C |
18: 37,880,213 (GRCm39) |
|
probably benign |
Het |
| Pex16 |
C |
T |
2: 92,209,405 (GRCm39) |
R241* |
probably null |
Het |
| Plxnb1 |
T |
C |
9: 108,943,904 (GRCm39) |
F1969L |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,297,736 (GRCm39) |
|
probably benign |
Het |
| Prdm15 |
A |
T |
16: 97,607,277 (GRCm39) |
I752N |
probably damaging |
Het |
| Rasgef1c |
A |
T |
11: 49,870,339 (GRCm39) |
K468M |
probably damaging |
Het |
| Rbfox1 |
A |
G |
16: 7,094,952 (GRCm39) |
S111G |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,138,597 (GRCm39) |
D405G |
probably damaging |
Het |
| Rell1 |
A |
G |
5: 64,097,010 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
A |
G |
19: 27,808,072 (GRCm39) |
S224P |
probably damaging |
Het |
| Scarb2 |
A |
T |
5: 92,602,636 (GRCm39) |
I260K |
probably damaging |
Het |
| Septin4 |
A |
G |
11: 87,458,598 (GRCm39) |
N324S |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,680,901 (GRCm39) |
F72L |
probably damaging |
Het |
| Spg7 |
C |
A |
8: 123,816,910 (GRCm39) |
R534S |
probably damaging |
Het |
| Stoml2 |
T |
C |
4: 43,029,589 (GRCm39) |
T164A |
probably benign |
Het |
| Syt11 |
C |
T |
3: 88,669,590 (GRCm39) |
G101S |
possibly damaging |
Het |
| Traj12 |
A |
G |
14: 54,444,013 (GRCm39) |
|
probably benign |
Het |
| Traj7 |
A |
T |
14: 54,448,981 (GRCm39) |
|
probably benign |
Het |
| Tysnd1 |
C |
T |
10: 61,537,855 (GRCm39) |
T175I |
possibly damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,400,317 (GRCm39) |
L244P |
probably benign |
Het |
| Wasf1 |
C |
A |
10: 40,812,186 (GRCm39) |
P325Q |
unknown |
Het |
| Zc3h18 |
T |
A |
8: 123,137,639 (GRCm39) |
|
probably benign |
Het |
| Zfp712 |
A |
G |
13: 67,188,905 (GRCm39) |
S541P |
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 |
|
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'- CTTCTCTAGTGAAAGGCCATTGC -3'
(R):5'- CCATGAGCACCTGAGAAGATG -3'
Sequencing Primer
(F):5'- GTGCGCTTTACCAGTACCAAG -3'
(R):5'- CACCTGAGAAGATGAGGAGTG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation