Incidental Mutation 'R4620:Usp32'
| ID |
345255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp32
|
| Ensembl Gene |
ENSMUSG00000000804 |
| Gene Name |
ubiquitin specific peptidase 32 |
| Synonyms |
2900074J03Rik, 6430526O11Rik |
| MMRRC Submission |
042008-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4620 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
84875268-85030987 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 84949953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108075]
|
| AlphaFold |
F8VPZ3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000108075
|
| SMART Domains |
Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
232 |
260 |
4.66e0 |
SMART |
|
EFh
|
268 |
296 |
5.8e-1 |
SMART |
|
Blast:EFh
|
318 |
346 |
5e-7 |
BLAST |
|
DUSP
|
389 |
588 |
2.32e-16 |
SMART |
|
Pfam:Ubiquitin_3
|
628 |
711 |
2.4e-9 |
PFAM |
|
Pfam:UCH
|
733 |
1564 |
2.4e-83 |
PFAM |
|
Pfam:UCH_1
|
1202 |
1547 |
2.9e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.9502 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
T |
7: 130,945,335 (GRCm39) |
Y433* |
probably null |
Het |
| Apba2 |
C |
T |
7: 64,364,215 (GRCm39) |
R331C |
probably damaging |
Het |
| Apod |
T |
C |
16: 31,116,211 (GRCm39) |
D173G |
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,588,632 (GRCm39) |
M284L |
probably benign |
Het |
| Birc6 |
A |
C |
17: 74,947,145 (GRCm39) |
T2955P |
probably benign |
Het |
| Blvra |
T |
C |
2: 126,938,885 (GRCm39) |
I287T |
probably damaging |
Het |
| Capn5 |
T |
C |
7: 97,778,578 (GRCm39) |
Y347C |
probably damaging |
Het |
| Cdcp2 |
A |
G |
4: 106,963,927 (GRCm39) |
E259G |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,781,665 (GRCm39) |
V85A |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,184,943 (GRCm39) |
I1169T |
probably benign |
Het |
| Cenpj |
A |
G |
14: 56,772,911 (GRCm39) |
V1043A |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,805,619 (GRCm39) |
H1497L |
probably benign |
Het |
| Chat |
A |
G |
14: 32,175,775 (GRCm39) |
M95T |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,052,694 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,449,149 (GRCm39) |
E3615G |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,701,006 (GRCm39) |
|
probably null |
Het |
| Dll1 |
C |
T |
17: 15,590,828 (GRCm39) |
A332T |
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,577,021 (GRCm39) |
Q159L |
probably benign |
Het |
| Dnai3 |
A |
T |
3: 145,748,564 (GRCm39) |
L850Q |
probably damaging |
Het |
| Eci3 |
A |
T |
13: 35,132,741 (GRCm39) |
M212K |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,768,962 (GRCm39) |
F557L |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,908,190 (GRCm39) |
V2604D |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,395,586 (GRCm39) |
V1871A |
possibly damaging |
Het |
| Gart |
T |
C |
16: 91,422,321 (GRCm39) |
N732S |
probably damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,313,924 (GRCm39) |
I463V |
probably benign |
Het |
| H2-M3 |
C |
A |
17: 37,583,310 (GRCm39) |
T257K |
probably damaging |
Het |
| Hdgf |
A |
G |
3: 87,821,883 (GRCm39) |
N166S |
possibly damaging |
Het |
| Hoxb3 |
A |
T |
11: 96,236,599 (GRCm39) |
N226Y |
probably damaging |
Het |
| Itgav |
T |
C |
2: 83,586,246 (GRCm39) |
Y169H |
probably benign |
Het |
| Kalrn |
T |
G |
16: 33,849,075 (GRCm39) |
I426L |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,131,982 (GRCm39) |
V646M |
probably damaging |
Het |
| Kif6 |
T |
C |
17: 50,208,324 (GRCm39) |
V735A |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,726,026 (GRCm39) |
I171F |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,054,523 (GRCm39) |
A1880T |
possibly damaging |
Het |
| Miox |
A |
T |
15: 89,220,324 (GRCm39) |
Y172F |
probably benign |
Het |
| Myo18a |
G |
A |
11: 77,708,773 (GRCm39) |
R48H |
possibly damaging |
Het |
| Ndufb7 |
T |
C |
8: 84,293,487 (GRCm39) |
S14P |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,129,070 (GRCm39) |
H371Q |
probably damaging |
Het |
| Or10d5j |
C |
T |
9: 39,868,205 (GRCm39) |
V9M |
probably damaging |
Het |
| Or52e15 |
T |
A |
7: 104,645,830 (GRCm39) |
I94F |
probably damaging |
Het |
| Or52e19 |
C |
T |
7: 102,959,165 (GRCm39) |
T79I |
probably benign |
Het |
| Or8b12c |
A |
G |
9: 37,716,115 (GRCm39) |
T303A |
probably benign |
Het |
| Orc5 |
A |
T |
5: 22,734,174 (GRCm39) |
D203E |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,245,265 (GRCm39) |
T1518A |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,395,563 (GRCm39) |
D602G |
probably damaging |
Het |
| Pnliprp2 |
G |
A |
19: 58,750,718 (GRCm39) |
V136I |
possibly damaging |
Het |
| Postn |
A |
C |
3: 54,284,414 (GRCm39) |
D627A |
probably damaging |
Het |
| Prpf39 |
T |
C |
12: 65,089,337 (GRCm39) |
V25A |
probably benign |
Het |
| Pxdc1 |
A |
G |
13: 34,836,297 (GRCm39) |
I41T |
probably damaging |
Het |
| Rab11fip1 |
T |
A |
8: 27,644,243 (GRCm39) |
E514V |
probably damaging |
Het |
| Rag1 |
A |
T |
2: 101,474,025 (GRCm39) |
H372Q |
probably damaging |
Het |
| Ranbp1 |
A |
G |
16: 18,057,968 (GRCm39) |
|
probably benign |
Het |
| Rexo5 |
A |
G |
7: 119,426,526 (GRCm39) |
I317V |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,818,622 (GRCm39) |
Q279R |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,191,129 (GRCm39) |
S187P |
probably damaging |
Het |
| Senp3 |
T |
A |
11: 69,567,944 (GRCm39) |
Y432F |
probably benign |
Het |
| Slfn5 |
G |
A |
11: 82,852,478 (GRCm39) |
C868Y |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,194,838 (GRCm39) |
A722T |
probably benign |
Het |
| Sptb |
A |
T |
12: 76,630,581 (GRCm39) |
C2244* |
probably null |
Het |
| Srbd1 |
A |
T |
17: 86,416,693 (GRCm39) |
F488L |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,190 (GRCm39) |
I239M |
possibly damaging |
Het |
| Themis2 |
A |
G |
4: 132,513,333 (GRCm39) |
W298R |
probably damaging |
Het |
| Tmem168 |
T |
G |
6: 13,594,952 (GRCm39) |
N37T |
probably benign |
Het |
| Tmem62 |
A |
G |
2: 120,826,845 (GRCm39) |
|
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,818,358 (GRCm39) |
D524G |
probably damaging |
Het |
| Trav5-4 |
G |
T |
14: 53,941,853 (GRCm39) |
M75I |
probably benign |
Het |
| Trio |
T |
A |
15: 27,871,257 (GRCm39) |
H620L |
probably damaging |
Het |
| Ubap2 |
C |
T |
4: 41,233,698 (GRCm39) |
G64E |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,054,011 (GRCm39) |
F1603Y |
probably damaging |
Het |
| Xpo4 |
A |
T |
14: 57,867,782 (GRCm39) |
L155Q |
probably damaging |
Het |
| Zbtb21 |
T |
C |
16: 97,751,092 (GRCm39) |
T1092A |
possibly damaging |
Het |
| Zfp780b |
A |
T |
7: 27,662,178 (GRCm39) |
Y792* |
probably null |
Het |
|
| Other mutations in Usp32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00529:Usp32
|
APN |
11 |
84,885,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00701:Usp32
|
APN |
11 |
84,949,951 (GRCm39) |
splice site |
probably null |
|
|
IGL00848:Usp32
|
APN |
11 |
84,942,007 (GRCm39) |
splice site |
probably benign |
|
|
IGL00934:Usp32
|
APN |
11 |
84,897,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01019:Usp32
|
APN |
11 |
84,930,091 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01302:Usp32
|
APN |
11 |
84,879,308 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01444:Usp32
|
APN |
11 |
84,949,990 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01575:Usp32
|
APN |
11 |
84,913,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01981:Usp32
|
APN |
11 |
84,927,350 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02118:Usp32
|
APN |
11 |
84,923,003 (GRCm39) |
nonsense |
probably null |
|
|
IGL02159:Usp32
|
APN |
11 |
84,896,628 (GRCm39) |
splice site |
probably null |
|
|
IGL02227:Usp32
|
APN |
11 |
84,877,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02363:Usp32
|
APN |
11 |
84,935,613 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02524:Usp32
|
APN |
11 |
84,900,837 (GRCm39) |
nonsense |
probably null |
|
|
IGL02613:Usp32
|
APN |
11 |
84,930,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02720:Usp32
|
APN |
11 |
84,897,817 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02738:Usp32
|
APN |
11 |
84,974,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02929:Usp32
|
APN |
11 |
84,879,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03303:Usp32
|
APN |
11 |
84,913,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB010:Usp32
|
UTSW |
11 |
84,897,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB020:Usp32
|
UTSW |
11 |
84,897,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4812001:Usp32
|
UTSW |
11 |
84,900,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Usp32
|
UTSW |
11 |
84,922,900 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0295:Usp32
|
UTSW |
11 |
84,944,518 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1320:Usp32
|
UTSW |
11 |
84,908,619 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1712:Usp32
|
UTSW |
11 |
84,933,406 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1922:Usp32
|
UTSW |
11 |
84,897,830 (GRCm39) |
nonsense |
probably null |
|
|
R1973:Usp32
|
UTSW |
11 |
84,994,757 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2010:Usp32
|
UTSW |
11 |
84,930,830 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2082:Usp32
|
UTSW |
11 |
84,921,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2355:Usp32
|
UTSW |
11 |
84,896,735 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3147:Usp32
|
UTSW |
11 |
84,919,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Usp32
|
UTSW |
11 |
84,916,362 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3162:Usp32
|
UTSW |
11 |
84,916,362 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3716:Usp32
|
UTSW |
11 |
84,933,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3816:Usp32
|
UTSW |
11 |
84,885,210 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3870:Usp32
|
UTSW |
11 |
84,897,881 (GRCm39) |
nonsense |
probably null |
|
|
R3871:Usp32
|
UTSW |
11 |
84,971,982 (GRCm39) |
missense |
probably null |
0.81 |
|
R4041:Usp32
|
UTSW |
11 |
84,908,565 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4079:Usp32
|
UTSW |
11 |
84,930,055 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4332:Usp32
|
UTSW |
11 |
84,994,804 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4396:Usp32
|
UTSW |
11 |
84,944,801 (GRCm39) |
missense |
probably benign |
|
|
R4580:Usp32
|
UTSW |
11 |
84,949,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4744:Usp32
|
UTSW |
11 |
84,885,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4909:Usp32
|
UTSW |
11 |
84,946,598 (GRCm39) |
nonsense |
probably null |
|
|
R5056:Usp32
|
UTSW |
11 |
84,917,621 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5111:Usp32
|
UTSW |
11 |
84,968,157 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5213:Usp32
|
UTSW |
11 |
84,913,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5308:Usp32
|
UTSW |
11 |
84,908,544 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5381:Usp32
|
UTSW |
11 |
84,949,953 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5538:Usp32
|
UTSW |
11 |
84,908,612 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5659:Usp32
|
UTSW |
11 |
84,968,240 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6006:Usp32
|
UTSW |
11 |
84,883,277 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6011:Usp32
|
UTSW |
11 |
84,922,923 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6029:Usp32
|
UTSW |
11 |
84,916,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6074:Usp32
|
UTSW |
11 |
84,885,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6331:Usp32
|
UTSW |
11 |
84,877,402 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6353:Usp32
|
UTSW |
11 |
84,913,107 (GRCm39) |
missense |
probably benign |
|
|
R6714:Usp32
|
UTSW |
11 |
84,917,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6778:Usp32
|
UTSW |
11 |
84,916,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6988:Usp32
|
UTSW |
11 |
84,900,969 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6992:Usp32
|
UTSW |
11 |
84,922,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7182:Usp32
|
UTSW |
11 |
84,930,996 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7186:Usp32
|
UTSW |
11 |
84,942,060 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7198:Usp32
|
UTSW |
11 |
84,913,681 (GRCm39) |
frame shift |
probably null |
|
|
R7201:Usp32
|
UTSW |
11 |
84,913,681 (GRCm39) |
frame shift |
probably null |
|
|
R7469:Usp32
|
UTSW |
11 |
84,879,379 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7502:Usp32
|
UTSW |
11 |
84,913,724 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7513:Usp32
|
UTSW |
11 |
84,917,938 (GRCm39) |
nonsense |
probably null |
|
|
R7629:Usp32
|
UTSW |
11 |
84,910,681 (GRCm39) |
frame shift |
probably null |
|
|
R7703:Usp32
|
UTSW |
11 |
84,968,153 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7741:Usp32
|
UTSW |
11 |
84,878,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7765:Usp32
|
UTSW |
11 |
84,885,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Usp32
|
UTSW |
11 |
84,897,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7973:Usp32
|
UTSW |
11 |
84,913,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7989:Usp32
|
UTSW |
11 |
84,925,126 (GRCm39) |
missense |
|
|
|
R7998:Usp32
|
UTSW |
11 |
84,885,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8292:Usp32
|
UTSW |
11 |
84,968,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8305:Usp32
|
UTSW |
11 |
84,923,011 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8548:Usp32
|
UTSW |
11 |
84,908,653 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8924:Usp32
|
UTSW |
11 |
84,916,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9002:Usp32
|
UTSW |
11 |
84,944,777 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9145:Usp32
|
UTSW |
11 |
84,913,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9209:Usp32
|
UTSW |
11 |
84,930,838 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9211:Usp32
|
UTSW |
11 |
84,913,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9296:Usp32
|
UTSW |
11 |
84,908,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Usp32
|
UTSW |
11 |
84,942,028 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9417:Usp32
|
UTSW |
11 |
84,885,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9514:Usp32
|
UTSW |
11 |
84,913,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9652:Usp32
|
UTSW |
11 |
84,921,317 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9723:Usp32
|
UTSW |
11 |
84,935,536 (GRCm39) |
nonsense |
probably null |
|
|
R9757:Usp32
|
UTSW |
11 |
84,968,155 (GRCm39) |
nonsense |
probably null |
|
|
X0028:Usp32
|
UTSW |
11 |
84,883,432 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Usp32
|
UTSW |
11 |
84,879,438 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAACTGACTCAGGCAAGGC -3'
(R):5'- TCAGGATAAACTAACGGGCC -3'
Sequencing Primer
(F):5'- TGACCTCATCACTACACTATTAAGC -3'
(R):5'- TCAGGATAAACTAACGGGCCAAAAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation