Incidental Mutation 'R7513:Usp32'
ID |
582239 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp32
|
Ensembl Gene |
ENSMUSG00000000804 |
Gene Name |
ubiquitin specific peptidase 32 |
Synonyms |
2900074J03Rik, 6430526O11Rik |
MMRRC Submission |
045586-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7513 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
84875268-85030987 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 84917938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 769
(Y769*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108075]
|
AlphaFold |
F8VPZ3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000000821
AA Change: Y67*
|
SMART Domains |
Protein: ENSMUSP00000000821 Gene: ENSMUSG00000000804 AA Change: Y67*
Domain | Start | End | E-Value | Type |
Pfam:UCH
|
32 |
260 |
4.1e-51 |
PFAM |
Pfam:UCH_1
|
33 |
228 |
1.7e-7 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000108075
AA Change: Y769*
|
SMART Domains |
Protein: ENSMUSP00000103710 Gene: ENSMUSG00000000804 AA Change: Y769*
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174602
|
SMART Domains |
Protein: ENSMUSP00000134476 Gene: ENSMUSG00000000804
Domain | Start | End | E-Value | Type |
Pfam:DUSP
|
1 |
65 |
6.5e-17 |
PFAM |
Pfam:Ubiquitin_3
|
122 |
216 |
8e-10 |
PFAM |
Pfam:UCH
|
238 |
257 |
1.2e-7 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
A |
5: 8,765,771 (GRCm39) |
W694* |
probably null |
Het |
Accs |
T |
C |
2: 93,670,437 (GRCm39) |
N256S |
possibly damaging |
Het |
Agmo |
C |
T |
12: 37,294,352 (GRCm39) |
T100I |
probably benign |
Het |
Alox8 |
T |
C |
11: 69,078,670 (GRCm39) |
D341G |
probably benign |
Het |
Apol7c |
T |
A |
15: 77,409,911 (GRCm39) |
E345V |
possibly damaging |
Het |
Arl5a |
A |
G |
2: 52,302,157 (GRCm39) |
F86L |
possibly damaging |
Het |
AU040320 |
A |
G |
4: 126,686,057 (GRCm39) |
E211G |
probably benign |
Het |
B020011L13Rik |
T |
A |
1: 117,729,149 (GRCm39) |
C219S |
probably damaging |
Het |
Btaf1 |
T |
A |
19: 36,955,803 (GRCm39) |
L579Q |
probably benign |
Het |
Cd84 |
T |
A |
1: 171,712,185 (GRCm39) |
V267E |
probably benign |
Het |
Cdcp3 |
G |
A |
7: 130,873,800 (GRCm39) |
G1709R |
unknown |
Het |
Clec11a |
T |
C |
7: 43,955,780 (GRCm39) |
E89G |
probably benign |
Het |
Csrnp2 |
C |
A |
15: 100,380,297 (GRCm39) |
E331D |
probably benign |
Het |
Cyp2d12 |
C |
A |
15: 82,442,621 (GRCm39) |
H355N |
probably benign |
Het |
Ddx24 |
C |
A |
12: 103,385,365 (GRCm39) |
G413* |
probably null |
Het |
Dhx38 |
G |
A |
8: 110,287,221 (GRCm39) |
P249L |
probably benign |
Het |
Dip2a |
A |
T |
10: 76,149,069 (GRCm39) |
M233K |
probably benign |
Het |
Dip2b |
T |
A |
15: 100,105,629 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
T |
C |
7: 130,692,242 (GRCm39) |
S1003P |
unknown |
Het |
Dna2 |
A |
G |
10: 62,807,747 (GRCm39) |
D1033G |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,370,561 (GRCm39) |
S2834P |
probably benign |
Het |
Dnah7b |
T |
G |
1: 46,163,506 (GRCm39) |
S437A |
probably benign |
Het |
Eif5 |
A |
T |
12: 111,506,686 (GRCm39) |
I93F |
probably damaging |
Het |
Fbxo47 |
A |
G |
11: 97,747,055 (GRCm39) |
F337S |
probably damaging |
Het |
Helz |
T |
C |
11: 107,546,941 (GRCm39) |
I1086T |
probably damaging |
Het |
Ifi208 |
A |
T |
1: 173,523,220 (GRCm39) |
R497* |
probably null |
Het |
Igfn1 |
T |
G |
1: 135,887,705 (GRCm39) |
D2453A |
probably damaging |
Het |
Ighg2c |
A |
T |
12: 113,252,471 (GRCm39) |
L27Q |
|
Het |
Jak1 |
C |
T |
4: 101,048,848 (GRCm39) |
C10Y |
probably damaging |
Het |
Kif7 |
T |
A |
7: 79,360,776 (GRCm39) |
N200Y |
possibly damaging |
Het |
Ktn1 |
G |
C |
14: 47,901,541 (GRCm39) |
A100P |
possibly damaging |
Het |
Lrsam1 |
T |
C |
2: 32,843,497 (GRCm39) |
D136G |
probably benign |
Het |
Man2c1 |
T |
C |
9: 57,046,683 (GRCm39) |
L648P |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,294,952 (GRCm39) |
I3116V |
probably benign |
Het |
Mmp10 |
A |
T |
9: 7,508,128 (GRCm39) |
D418V |
probably damaging |
Het |
Mrpl24 |
A |
T |
3: 87,829,734 (GRCm39) |
T107S |
probably benign |
Het |
Mycbpap |
T |
A |
11: 94,394,382 (GRCm39) |
D296V |
probably damaging |
Het |
Mycn |
C |
A |
12: 12,989,743 (GRCm39) |
A218S |
probably benign |
Het |
Myo1f |
G |
T |
17: 33,794,788 (GRCm39) |
W9C |
probably damaging |
Het |
Nckap1 |
T |
A |
2: 80,332,635 (GRCm39) |
K1074N |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,099,552 (GRCm39) |
D4766G |
possibly damaging |
Het |
Nhsl1 |
T |
C |
10: 18,399,700 (GRCm39) |
S275P |
probably damaging |
Het |
Or2d3c |
A |
G |
7: 106,526,483 (GRCm39) |
F61S |
possibly damaging |
Het |
Or5k16 |
T |
A |
16: 58,736,295 (GRCm39) |
K236N |
probably damaging |
Het |
Pam |
G |
A |
1: 97,780,910 (GRCm39) |
P514S |
possibly damaging |
Het |
Pcdha4 |
C |
T |
18: 37,086,392 (GRCm39) |
L192F |
probably damaging |
Het |
Per1 |
T |
A |
11: 68,996,397 (GRCm39) |
D800E |
probably benign |
Het |
Plcg2 |
C |
A |
8: 118,306,592 (GRCm39) |
N315K |
probably damaging |
Het |
Plxnb2 |
T |
A |
15: 89,042,525 (GRCm39) |
|
probably null |
Het |
Pnpla1 |
A |
G |
17: 29,077,781 (GRCm39) |
|
probably benign |
Het |
Pptc7 |
A |
T |
5: 122,446,192 (GRCm39) |
|
probably null |
Het |
Psg26 |
G |
T |
7: 18,209,225 (GRCm39) |
S394R |
probably benign |
Het |
Psmc1 |
C |
A |
12: 100,081,773 (GRCm39) |
T125K |
probably benign |
Het |
Ptgis |
T |
A |
2: 167,067,203 (GRCm39) |
M125L |
probably benign |
Het |
Rbms1 |
A |
G |
2: 60,589,165 (GRCm39) |
Y323H |
probably damaging |
Het |
Rgl2 |
G |
A |
17: 34,151,529 (GRCm39) |
R191Q |
probably benign |
Het |
Sirpb1a |
G |
A |
3: 15,476,503 (GRCm39) |
T98I |
possibly damaging |
Het |
Sirpb1b |
C |
A |
3: 15,607,200 (GRCm39) |
E361* |
probably null |
Het |
Slc13a4 |
A |
T |
6: 35,260,272 (GRCm39) |
|
probably null |
Het |
Spag9 |
T |
C |
11: 94,002,909 (GRCm39) |
S1140P |
probably damaging |
Het |
Spata31e4 |
T |
A |
13: 50,856,909 (GRCm39) |
I849N |
probably benign |
Het |
Tas2r140 |
A |
G |
6: 40,469,084 (GRCm39) |
N305D |
probably damaging |
Het |
Tenm2 |
G |
A |
11: 35,942,727 (GRCm39) |
A1314V |
probably benign |
Het |
Tgm3 |
A |
G |
2: 129,866,324 (GRCm39) |
T81A |
probably benign |
Het |
Timeless |
T |
C |
10: 128,085,399 (GRCm39) |
V839A |
probably damaging |
Het |
Tmem132a |
A |
G |
19: 10,837,492 (GRCm39) |
I606T |
probably damaging |
Het |
Tox |
T |
A |
4: 6,741,507 (GRCm39) |
M158L |
probably benign |
Het |
Trpc2 |
A |
T |
7: 101,739,275 (GRCm39) |
M549L |
probably damaging |
Het |
Trpm5 |
C |
T |
7: 142,635,572 (GRCm39) |
R600Q |
possibly damaging |
Het |
Trpv1 |
A |
G |
11: 73,131,367 (GRCm39) |
N302D |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,681,940 (GRCm39) |
R1019H |
|
Het |
Ttn |
G |
T |
2: 76,775,307 (GRCm39) |
H1958N |
unknown |
Het |
Vim |
A |
T |
2: 13,583,443 (GRCm39) |
Q255L |
possibly damaging |
Het |
Vmn1r84 |
T |
C |
7: 12,095,994 (GRCm39) |
H233R |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,341,108 (GRCm39) |
H1116Q |
possibly damaging |
Het |
Zc3h18 |
G |
T |
8: 123,134,993 (GRCm39) |
R580L |
unknown |
Het |
Zfp267 |
T |
A |
3: 36,218,792 (GRCm39) |
F272I |
possibly damaging |
Het |
Zfp442 |
A |
T |
2: 150,250,676 (GRCm39) |
C409S |
unknown |
Het |
Zfy1 |
A |
T |
Y: 759,852 (GRCm39) |
I20K |
unknown |
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 |
|
R4620: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 |
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'- CTTTCATACCAATGGGATTTGTCC -3'
(R):5'- CCACAGCATATTACTATTGCTAGTC -3'
Sequencing Primer
(F):5'- ACCAATGGGATTTGTCCTAGAAG -3'
(R):5'- CTTTTGTGTTATTTGTTGCAGTTCCC -3'
|
Posted On |
2019-10-17 |