Incidental Mutation 'RF002:Usp48'
| ID |
602552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp48
|
| Ensembl Gene |
ENSMUSG00000043411 |
| Gene Name |
ubiquitin specific peptidase 48 |
| Synonyms |
Usp31, D330022K21Rik, 2810449C13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
RF002 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
137593755-137658537 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 137605795 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 100
(V100D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055131]
[ENSMUST00000105838]
[ENSMUST00000105839]
[ENSMUST00000105840]
[ENSMUST00000153100]
|
| AlphaFold |
Q3V0C5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055131
AA Change: V100D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: V100D
| 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 damaging
Transcript: ENSMUST00000105839
AA Change: V100D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101465
Gene: ENSMUSG00000043411
AA Change: V100D
| 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 damaging
Transcript: ENSMUST00000105840
AA Change: V100D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: V100D
| 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 damaging
Transcript: ENSMUST00000153100
AA Change: V128D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123154
Gene: ENSMUSG00000043411
AA Change: V128D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG_like
|
74 |
129 |
7e-34 |
BLAST |
|
PDB:4M5X|B
|
111 |
158 |
1e-7 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.4%
- 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI837181 |
GGC |
GGCTGC |
19: 5,425,235 (GRCm38) |
|
probably benign |
Het |
| AI837181 |
CGG |
CGGTGG |
19: 5,425,234 (GRCm38) |
|
probably benign |
Het |
| Angptl1 |
A |
T |
1: 156,857,224 (GRCm38) |
Q321L |
possibly damaging |
Het |
| AY358078 |
T |
TAGGATAATGC |
14: 51,805,593 (GRCm38) |
|
probably null |
Het |
| Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT |
7: 80,512,905 (GRCm38) |
|
probably benign |
Het |
| Blm |
CTC |
CTCATCCTCCTCATC |
7: 80,512,927 (GRCm38) |
|
probably benign |
Het |
| Car13 |
T |
C |
3: 14,654,914 (GRCm38) |
Y129H |
probably damaging |
Het |
| Cd109 |
TATTTAT |
TATTTATTTATTCATTTAT |
9: 78,712,528 (GRCm38) |
|
probably benign |
Het |
| Cd109 |
TTATTTATTTAT |
TTATTTATTTATGTATTTATTTAT |
9: 78,712,523 (GRCm38) |
|
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,466,631 (GRCm38) |
C341R |
probably damaging |
Het |
| Chga |
GCA |
GCACCA |
12: 102,561,421 (GRCm38) |
|
probably benign |
Het |
| Col11a1 |
A |
T |
3: 114,217,001 (GRCm38) |
I1689L |
unknown |
Het |
| Dnah6 |
T |
G |
6: 73,101,889 (GRCm38) |
S2364R |
probably benign |
Het |
| E4f1 |
CCG |
CCGACG |
17: 24,455,186 (GRCm38) |
|
probably benign |
Het |
| Fah |
A |
C |
7: 84,589,628 (GRCm38) |
N336K |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 87,996,053 (GRCm38) |
I664K |
|
Het |
| Fcgbp |
A |
G |
7: 28,089,755 (GRCm38) |
D582G |
probably benign |
Het |
| Gabre |
C |
CCGGCTA |
X: 72,270,057 (GRCm38) |
|
probably null |
Het |
| Garin5a |
CCTGGGTCTGAGGGAGGA |
CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA |
7: 44,500,520 (GRCm38) |
|
probably null |
Het |
| Gm1110 |
A |
G |
9: 26,920,640 (GRCm38) |
Y72H |
probably damaging |
Het |
| Inpp5e |
C |
T |
2: 26,408,377 (GRCm38) |
A71T |
possibly damaging |
Het |
| Iqcm |
C |
T |
8: 75,577,899 (GRCm38) |
T96I |
probably benign |
Het |
| Lce1m |
TGCCACCGCTGC |
TGCCACCGCTGCCGCCACCGCTGC |
3: 93,018,283 (GRCm38) |
|
probably benign |
Het |
| Lce1m |
AC |
ACCGCCGCTGCCCC |
3: 93,018,299 (GRCm38) |
|
probably benign |
Het |
| Lrch1 |
TTGGTGGTGCTGGTGG |
TTGGTGG |
14: 74,947,574 (GRCm38) |
|
probably benign |
Het |
| Lyst |
A |
G |
13: 13,634,363 (GRCm38) |
D206G |
probably benign |
Het |
| Map4k5 |
A |
T |
12: 69,856,856 (GRCm38) |
D58E |
probably damaging |
Het |
| Mapkapk2 |
A |
G |
1: 131,056,513 (GRCm38) |
S251P |
probably damaging |
Het |
| Mcph1 |
CCTG |
CCTGCTG |
8: 18,652,529 (GRCm38) |
|
probably benign |
Het |
| Men1 |
T |
C |
19: 6,340,116 (GRCm38) |
S600P |
probably damaging |
Het |
| Mllt1 |
C |
T |
17: 56,896,300 (GRCm38) |
V394M |
probably benign |
Het |
| Mllt1 |
C |
A |
17: 56,896,301 (GRCm38) |
M393I |
possibly damaging |
Het |
| Nacc1 |
T |
C |
8: 84,676,219 (GRCm38) |
E315G |
possibly damaging |
Het |
| Nefh |
GGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTAGGGACTTGGCCTC |
11: 4,941,047 (GRCm38) |
|
probably benign |
Het |
| Nefh |
GACTTGGCCTC |
GACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,941,050 (GRCm38) |
|
probably benign |
Het |
| Nid2 |
TAACACCGCCA |
TA |
14: 19,751,366 (GRCm38) |
|
probably benign |
Het |
| Or5b122 |
T |
A |
19: 13,586,051 (GRCm38) |
I206N |
probably damaging |
Het |
| Parp2 |
A |
G |
14: 50,817,386 (GRCm38) |
E262G |
probably damaging |
Het |
| Pdik1l |
TTT |
TTTGTTTTTGTGTT |
4: 134,279,375 (GRCm38) |
|
probably null |
Het |
| Pop1 |
G |
A |
15: 34,502,437 (GRCm38) |
G90D |
probably damaging |
Het |
| Ppp3cc |
T |
C |
14: 70,267,339 (GRCm38) |
T73A |
possibly damaging |
Het |
| Prdm15 |
C |
T |
16: 97,799,629 (GRCm38) |
D810N |
probably damaging |
Het |
| Prpf4b |
T |
A |
13: 34,884,236 (GRCm38) |
S349R |
unknown |
Het |
| Rassf6 |
GTAGAGCAATGGGGATTC |
GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC |
5: 90,608,925 (GRCm38) |
|
probably null |
Het |
| Rassf6 |
TCCTGTAGAGCAATGGGGATTC |
TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC |
5: 90,608,921 (GRCm38) |
|
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,885,252 (GRCm38) |
E208G |
probably benign |
Het |
| Smurf2 |
G |
T |
11: 106,852,587 (GRCm38) |
P211Q |
probably benign |
Het |
| Snx25 |
C |
A |
8: 46,116,181 (GRCm38) |
|
probably null |
Het |
| Spata6 |
T |
A |
4: 111,828,305 (GRCm38) |
M469K |
probably benign |
Het |
| Spta1 |
G |
T |
1: 174,231,360 (GRCm38) |
A1954S |
possibly damaging |
Het |
| Sry |
CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG |
CTGGTCATGGAACTGCTG |
Y: 2,662,564 (GRCm38) |
|
probably benign |
Het |
| Stard8 |
GAG |
GAGTAG |
X: 99,066,515 (GRCm38) |
|
probably null |
Het |
| Tfeb |
AGC |
AGCGGC |
17: 47,786,102 (GRCm38) |
|
probably benign |
Het |
| Tlcd1 |
T |
A |
11: 78,180,194 (GRCm38) |
L203Q |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,361,225 (GRCm38) |
F223L |
possibly damaging |
Het |
| Vinac1 |
A |
G |
2: 129,038,794 (GRCm38) |
F404S |
|
Het |
| Vmn2r56 |
G |
A |
7: 12,694,830 (GRCm38) |
T503I |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,297,390 (GRCm38) |
L898P |
probably damaging |
Het |
| Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,036,471 (GRCm38) |
|
probably benign |
Het |
| Zfp706 |
T |
A |
15: 37,003,705 (GRCm38) |
Y39F |
probably benign |
Het |
| Zhx3 |
T |
A |
2: 160,781,806 (GRCm38) |
N147I |
probably damaging |
Het |
|
| Other mutations in Usp48 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01691:Usp48
|
APN |
4 |
137,623,272 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL01864:Usp48
|
APN |
4 |
137,639,227 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL02386:Usp48
|
APN |
4 |
137,604,523 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL03112:Usp48
|
APN |
4 |
137,608,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03114:Usp48
|
APN |
4 |
137,656,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03406:Usp48
|
APN |
4 |
137,639,295 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
balfour
|
UTSW |
4 |
137,633,455 (GRCm38) |
missense |
probably benign |
0.00 |
|
burlap
|
UTSW |
4 |
137,625,276 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
fulfillment
|
UTSW |
4 |
137,638,233 (GRCm38) |
missense |
probably damaging |
1.00 |
|
hayao
|
UTSW |
4 |
137,633,439 (GRCm38) |
nonsense |
probably null |
|
|
Mei
|
UTSW |
4 |
137,606,693 (GRCm38) |
nonsense |
probably null |
|
|
miyazaki
|
UTSW |
4 |
137,608,154 (GRCm38) |
missense |
probably damaging |
1.00 |
|
promise
|
UTSW |
4 |
137,634,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
satsuki
|
UTSW |
4 |
137,633,126 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
Totoro
|
UTSW |
4 |
137,594,483 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02796:Usp48
|
UTSW |
4 |
137,610,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0050:Usp48
|
UTSW |
4 |
137,613,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0333:Usp48
|
UTSW |
4 |
137,594,483 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0382:Usp48
|
UTSW |
4 |
137,621,218 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0423:Usp48
|
UTSW |
4 |
137,616,411 (GRCm38) |
missense |
probably benign |
|
|
R0570:Usp48
|
UTSW |
4 |
137,633,126 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0855:Usp48
|
UTSW |
4 |
137,608,154 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0943:Usp48
|
UTSW |
4 |
137,644,470 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1367:Usp48
|
UTSW |
4 |
137,644,463 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1367:Usp48
|
UTSW |
4 |
137,639,295 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1689:Usp48
|
UTSW |
4 |
137,656,107 (GRCm38) |
splice site |
probably null |
|
|
R1725:Usp48
|
UTSW |
4 |
137,633,422 (GRCm38) |
nonsense |
probably null |
|
|
R2520:Usp48
|
UTSW |
4 |
137,625,251 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2965:Usp48
|
UTSW |
4 |
137,613,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2966:Usp48
|
UTSW |
4 |
137,613,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3026:Usp48
|
UTSW |
4 |
137,594,444 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3963:Usp48
|
UTSW |
4 |
137,633,439 (GRCm38) |
nonsense |
probably null |
|
|
R4087:Usp48
|
UTSW |
4 |
137,623,340 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4633:Usp48
|
UTSW |
4 |
137,634,900 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4677:Usp48
|
UTSW |
4 |
137,616,381 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4735:Usp48
|
UTSW |
4 |
137,633,369 (GRCm38) |
nonsense |
probably null |
|
|
R4932:Usp48
|
UTSW |
4 |
137,615,834 (GRCm38) |
splice site |
probably null |
|
|
R4932:Usp48
|
UTSW |
4 |
137,615,833 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4935:Usp48
|
UTSW |
4 |
137,650,358 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4952:Usp48
|
UTSW |
4 |
137,606,693 (GRCm38) |
nonsense |
probably null |
|
|
R5034:Usp48
|
UTSW |
4 |
137,606,757 (GRCm38) |
nonsense |
probably null |
|
|
R5153:Usp48
|
UTSW |
4 |
137,616,362 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5443:Usp48
|
UTSW |
4 |
137,621,221 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R5591:Usp48
|
UTSW |
4 |
137,652,652 (GRCm38) |
intron |
probably benign |
|
|
R5825:Usp48
|
UTSW |
4 |
137,623,378 (GRCm38) |
missense |
probably benign |
|
|
R5889:Usp48
|
UTSW |
4 |
137,616,412 (GRCm38) |
missense |
probably benign |
|
|
R5955:Usp48
|
UTSW |
4 |
137,615,818 (GRCm38) |
missense |
probably benign |
|
|
R6089:Usp48
|
UTSW |
4 |
137,605,818 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6443:Usp48
|
UTSW |
4 |
137,613,763 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6473:Usp48
|
UTSW |
4 |
137,609,108 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6482:Usp48
|
UTSW |
4 |
137,634,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6859:Usp48
|
UTSW |
4 |
137,625,276 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6916:Usp48
|
UTSW |
4 |
137,638,233 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6977:Usp48
|
UTSW |
4 |
137,650,360 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7749:Usp48
|
UTSW |
4 |
137,650,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7759:Usp48
|
UTSW |
4 |
137,594,452 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7767:Usp48
|
UTSW |
4 |
137,604,645 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7850:Usp48
|
UTSW |
4 |
137,605,749 (GRCm38) |
splice site |
probably null |
|
|
R7881:Usp48
|
UTSW |
4 |
137,633,455 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7897:Usp48
|
UTSW |
4 |
137,644,428 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8186:Usp48
|
UTSW |
4 |
137,621,196 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R8198:Usp48
|
UTSW |
4 |
137,621,159 (GRCm38) |
unclassified |
probably benign |
|
|
R8353:Usp48
|
UTSW |
4 |
137,623,382 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8466:Usp48
|
UTSW |
4 |
137,623,319 (GRCm38) |
missense |
probably null |
1.00 |
|
R8506:Usp48
|
UTSW |
4 |
137,610,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8821:Usp48
|
UTSW |
4 |
137,613,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8831:Usp48
|
UTSW |
4 |
137,613,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8911:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9043:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9044:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9289:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9295:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9296:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9297:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9317:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9460:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9480:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9481:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9520:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9521:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9522:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9627:Usp48
|
UTSW |
4 |
137,613,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9698:Usp48
|
UTSW |
4 |
137,633,891 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9752:Usp48
|
UTSW |
4 |
137,613,826 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9784:Usp48
|
UTSW |
4 |
137,594,501 (GRCm38) |
missense |
probably benign |
0.06 |
|
Z1176:Usp48
|
UTSW |
4 |
137,604,637 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGGTCAAACAGAAGGCC -3'
(R):5'- CATAAGAGAACTGGCTGGCAAC -3'
Sequencing Primer
(F):5'- GAAGGCCTCTATGAAAGTTCTGCC -3'
(R):5'- TGGCAACCCCCTCAGGAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation