Incidental Mutation 'R7749:Usp48'
| ID |
597083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp48
|
| Ensembl Gene |
ENSMUSG00000043411 |
| Gene Name |
ubiquitin specific peptidase 48 |
| Synonyms |
Usp31, 2810449C13Rik, D330022K21Rik |
| MMRRC Submission |
045805-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R7749 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
137321079-137385842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 137377728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 1020
(K1020M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055131]
[ENSMUST00000105840]
[ENSMUST00000141628]
|
| AlphaFold |
Q3V0C5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055131
AA Change: K1020M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: K1020M
| 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 damaging
Transcript: ENSMUST00000105840
AA Change: K1004M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: K1004M
| 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: K128M
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
63 |
131 |
4.78e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141628
AA Change: K251M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119691
Gene: ENSMUSG00000043411
AA Change: K251M
| 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: K94M
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
29 |
97 |
4.78e-1 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000117989
Gene: ENSMUSG00000043411
AA Change: K66M
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
1 |
69 |
9.53e-2 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000118081
Gene: ENSMUSG00000043411
AA Change: K39M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBQ
|
2 |
42 |
5e-22 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (66/67) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1a |
A |
T |
19: 46,368,186 (GRCm39) |
S254T |
probably benign |
Het |
| Adam12 |
G |
A |
7: 133,826,542 (GRCm39) |
A22V |
unknown |
Het |
| Adarb2 |
A |
G |
13: 8,619,775 (GRCm39) |
D87G |
possibly damaging |
Het |
| Aldh6a1 |
A |
T |
12: 84,488,855 (GRCm39) |
I59N |
probably benign |
Het |
| Ankrd50 |
C |
T |
3: 38,536,870 (GRCm39) |
C161Y |
probably damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,879,515 (GRCm39) |
|
probably null |
Het |
| Anks1 |
T |
A |
17: 28,257,115 (GRCm39) |
I707N |
probably damaging |
Het |
| Atoh1 |
A |
T |
6: 64,706,904 (GRCm39) |
M200L |
possibly damaging |
Het |
| Bmp1 |
C |
T |
14: 70,730,284 (GRCm39) |
R416H |
probably damaging |
Het |
| Caprin1 |
A |
G |
2: 103,602,099 (GRCm39) |
S548P |
probably benign |
Het |
| Ccdc167 |
T |
A |
17: 29,924,247 (GRCm39) |
Y63F |
possibly damaging |
Het |
| Cfap99 |
T |
A |
5: 34,465,284 (GRCm39) |
D174E |
probably benign |
Het |
| Chil3 |
T |
G |
3: 106,056,161 (GRCm39) |
N331T |
probably benign |
Het |
| Chmp5 |
T |
A |
4: 40,949,488 (GRCm39) |
I35N |
probably damaging |
Het |
| Cpt1c |
A |
T |
7: 44,611,689 (GRCm39) |
S537T |
probably benign |
Het |
| Dctn1 |
A |
T |
6: 83,163,123 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
T |
A |
17: 80,546,287 (GRCm39) |
M1366L |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,802,656 (GRCm39) |
Y3478F |
probably damaging |
Het |
| Efna3 |
A |
G |
3: 89,223,947 (GRCm39) |
Y81H |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,192,608 (GRCm39) |
V812A |
probably damaging |
Het |
| Erg |
A |
T |
16: 95,178,216 (GRCm39) |
I237N |
probably benign |
Het |
| Fem1c |
G |
T |
18: 46,657,185 (GRCm39) |
N176K |
probably damaging |
Het |
| Fgd4 |
T |
C |
16: 16,293,018 (GRCm39) |
Y233C |
probably benign |
Het |
| Foxd2 |
G |
A |
4: 114,765,009 (GRCm39) |
A337V |
unknown |
Het |
| Gsdma2 |
T |
C |
11: 98,548,547 (GRCm39) |
L433P |
unknown |
Het |
| Hmcn2 |
C |
A |
2: 31,343,045 (GRCm39) |
|
probably null |
Het |
| Hnrnpul2 |
T |
C |
19: 8,797,788 (GRCm39) |
V48A |
probably benign |
Het |
| Hsf1 |
T |
A |
15: 76,383,387 (GRCm39) |
S396T |
probably benign |
Het |
| Htr5b |
G |
T |
1: 121,455,487 (GRCm39) |
N144K |
probably damaging |
Het |
| Igkv9-120 |
T |
C |
6: 68,027,172 (GRCm39) |
S29P |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,236,549 (GRCm39) |
N1211Y |
possibly damaging |
Het |
| Kcnh1 |
A |
C |
1: 191,959,447 (GRCm39) |
I334L |
probably benign |
Het |
| Laptm4b |
T |
C |
15: 34,276,346 (GRCm39) |
I158T |
probably benign |
Het |
| Mgat4f |
A |
T |
1: 134,318,250 (GRCm39) |
M341L |
probably benign |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Nav3 |
T |
C |
10: 109,539,213 (GRCm39) |
T2063A |
probably damaging |
Het |
| Nceh1 |
T |
A |
3: 27,261,531 (GRCm39) |
D47E |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,952,383 (GRCm39) |
S1390P |
probably damaging |
Het |
| Npepps |
T |
G |
11: 97,158,454 (GRCm39) |
I104L |
probably benign |
Het |
| Numb |
A |
G |
12: 83,848,051 (GRCm39) |
S229P |
not run |
Het |
| Opn1sw |
T |
A |
6: 29,380,168 (GRCm39) |
I83F |
probably benign |
Het |
| Or13p4 |
T |
C |
4: 118,547,425 (GRCm39) |
S75G |
probably damaging |
Het |
| Or5b95 |
A |
T |
19: 12,657,576 (GRCm39) |
I35F |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,779,822 (GRCm39) |
H252Y |
probably damaging |
Het |
| Pigg |
T |
G |
5: 108,484,162 (GRCm39) |
C603G |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,391,133 (GRCm39) |
H1504N |
probably benign |
Het |
| Plcd4 |
A |
G |
1: 74,604,292 (GRCm39) |
N757D |
possibly damaging |
Het |
| Ppia |
A |
G |
11: 6,369,569 (GRCm39) |
T152A |
probably benign |
Het |
| Psmd8 |
G |
A |
7: 28,878,346 (GRCm39) |
|
probably null |
Het |
| Pxn |
T |
A |
5: 115,686,575 (GRCm39) |
Y356N |
probably benign |
Het |
| Rhoa |
G |
C |
9: 108,213,914 (GRCm39) |
C159S |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,749,506 (GRCm39) |
C69Y |
probably benign |
Het |
| Satb1 |
A |
G |
17: 52,074,961 (GRCm39) |
S512P |
possibly damaging |
Het |
| Sectm1b |
A |
G |
11: 120,945,768 (GRCm39) |
I191T |
possibly damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,599,260 (GRCm39) |
K297R |
possibly damaging |
Het |
| Snrnp48 |
T |
C |
13: 38,405,263 (GRCm39) |
Y287H |
probably benign |
Het |
| Sntg2 |
A |
T |
12: 30,276,910 (GRCm39) |
C381S |
probably benign |
Het |
| Syngap1 |
T |
A |
17: 27,178,938 (GRCm39) |
M649K |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,212,289 (GRCm39) |
I79V |
probably damaging |
Het |
| Thap7 |
T |
C |
16: 17,346,467 (GRCm39) |
N172S |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,328,844 (GRCm39) |
Y661C |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,606,659 (GRCm39) |
N18084D |
probably damaging |
Het |
| Vmn2r12 |
T |
C |
5: 109,233,920 (GRCm39) |
N764S |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,540 (GRCm39) |
I736V |
possibly damaging |
Het |
| Wfdc6b |
T |
A |
2: 164,459,339 (GRCm39) |
C134S |
probably damaging |
Het |
| Zcchc2 |
A |
T |
1: 105,946,003 (GRCm39) |
D481V |
probably damaging |
Het |
| Zfp949 |
G |
A |
9: 88,451,923 (GRCm39) |
G498R |
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 |
|
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 |
|
R6977:Usp48
|
UTSW |
4 |
137,377,671 (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'- TAGGCTGCTTGCTTCTGTAC -3'
(R):5'- TGTTCTGTCACCACTGCAGG -3'
Sequencing Primer
(F):5'- ACCGGTTTTGCCTTTGATTTTTACAG -3'
(R):5'- AAGGCCCAACGCTGTCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation