Incidental Mutation 'R2010:Usp32'
ID |
219532 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp32
|
Ensembl Gene |
ENSMUSG00000000804 |
Gene Name |
ubiquitin specific peptidase 32 |
Synonyms |
2900074J03Rik, 6430526O11Rik |
MMRRC Submission |
040019-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2010 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
84875268-85030987 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 84930830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 533
(E533D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108075]
[ENSMUST00000172515]
|
AlphaFold |
F8VPZ3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108075
AA Change: E533D
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103710 Gene: ENSMUSG00000000804 AA Change: E533D
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: ENSMUST00000172515
|
SMART Domains |
Protein: ENSMUSP00000133781 Gene: ENSMUSG00000000804
Domain | Start | End | E-Value | Type |
Blast:DUSP
|
1 |
52 |
7e-30 |
BLAST |
low complexity region
|
53 |
65 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000174602
AA Change: E11D
|
SMART Domains |
Protein: ENSMUSP00000134476 Gene: ENSMUSG00000000804 AA Change: E11D
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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810062G17Rik |
G |
A |
3: 36,535,955 (GRCm39) |
G74S |
unknown |
Het |
Aimp1 |
A |
T |
3: 132,373,253 (GRCm39) |
L229Q |
probably benign |
Het |
Arhgef6 |
T |
C |
X: 56,344,865 (GRCm39) |
T52A |
possibly damaging |
Het |
Aste1 |
C |
A |
9: 105,280,701 (GRCm39) |
H25Q |
probably damaging |
Het |
Atp13a1 |
G |
A |
8: 70,244,010 (GRCm39) |
G36R |
possibly damaging |
Het |
Bahcc1 |
T |
C |
11: 120,163,604 (GRCm39) |
V634A |
probably damaging |
Het |
Bltp1 |
T |
G |
3: 36,982,700 (GRCm39) |
N788K |
probably benign |
Het |
C1s1 |
A |
T |
6: 124,514,353 (GRCm39) |
Y168N |
probably damaging |
Het |
Camsap2 |
T |
C |
1: 136,202,606 (GRCm39) |
S612G |
probably damaging |
Het |
Cdh23 |
C |
A |
10: 60,150,006 (GRCm39) |
R2611L |
probably damaging |
Het |
Cfap20dc |
A |
T |
14: 8,511,021 (GRCm38) |
F464L |
probably damaging |
Het |
Cilp2 |
A |
G |
8: 70,334,344 (GRCm39) |
Y885H |
probably damaging |
Het |
Dhrs3 |
C |
T |
4: 144,653,758 (GRCm39) |
T227I |
possibly damaging |
Het |
Dnah2 |
A |
T |
11: 69,349,184 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
G |
7: 119,694,400 (GRCm39) |
M1L |
probably benign |
Het |
Ehbp1l1 |
A |
G |
19: 5,769,311 (GRCm39) |
I664T |
probably benign |
Het |
Eif4e |
C |
T |
3: 138,261,219 (GRCm39) |
T171I |
probably benign |
Het |
Elfn1 |
C |
T |
5: 139,959,071 (GRCm39) |
R692W |
probably damaging |
Het |
Eps8l3 |
T |
A |
3: 107,786,688 (GRCm39) |
M1K |
probably null |
Het |
Evi5 |
C |
A |
5: 107,961,411 (GRCm39) |
|
probably null |
Het |
Fancd2 |
A |
T |
6: 113,570,252 (GRCm39) |
D1401V |
probably damaging |
Het |
Fat2 |
G |
A |
11: 55,144,653 (GRCm39) |
R4074C |
probably damaging |
Het |
Fkbp4 |
A |
T |
6: 128,412,765 (GRCm39) |
V55E |
probably benign |
Het |
Fnip1 |
A |
G |
11: 54,373,329 (GRCm39) |
D180G |
probably damaging |
Het |
Galc |
A |
G |
12: 98,220,489 (GRCm39) |
F126S |
possibly damaging |
Het |
Gdf7 |
C |
T |
12: 8,351,729 (GRCm39) |
V69M |
unknown |
Het |
Glis2 |
A |
G |
16: 4,426,575 (GRCm39) |
E22G |
probably damaging |
Het |
H2bc3 |
G |
A |
13: 23,931,111 (GRCm39) |
V112M |
possibly damaging |
Het |
Hps4 |
T |
A |
5: 112,517,342 (GRCm39) |
V243E |
probably damaging |
Het |
Ighe |
T |
A |
12: 113,235,108 (GRCm39) |
I351F |
unknown |
Het |
Irak4 |
A |
T |
15: 94,449,687 (GRCm39) |
R55S |
probably damaging |
Het |
Itpr2 |
G |
A |
6: 146,129,022 (GRCm39) |
|
probably null |
Het |
Katnip |
A |
G |
7: 125,472,128 (GRCm39) |
I1544M |
possibly damaging |
Het |
Kirrel3 |
T |
C |
9: 34,850,494 (GRCm39) |
Y41H |
probably damaging |
Het |
Krr1 |
A |
G |
10: 111,811,474 (GRCm39) |
E56G |
possibly damaging |
Het |
Lgi1 |
G |
A |
19: 38,289,683 (GRCm39) |
V250I |
probably damaging |
Het |
Lipf |
A |
G |
19: 33,950,946 (GRCm39) |
N306D |
probably benign |
Het |
Lman2l |
C |
T |
1: 36,484,262 (GRCm39) |
W18* |
probably null |
Het |
Lztfl1 |
T |
A |
9: 123,531,251 (GRCm39) |
N239I |
possibly damaging |
Het |
Mief1 |
T |
C |
15: 80,132,126 (GRCm39) |
S66P |
possibly damaging |
Het |
Mmp8 |
C |
A |
9: 7,567,535 (GRCm39) |
S465* |
probably null |
Het |
Muc2 |
A |
T |
7: 141,287,444 (GRCm39) |
T208S |
probably damaging |
Het |
Myh8 |
A |
T |
11: 67,187,990 (GRCm39) |
K921* |
probably null |
Het |
Myh9 |
T |
C |
15: 77,656,147 (GRCm39) |
E1121G |
probably benign |
Het |
Nbn |
T |
C |
4: 15,969,393 (GRCm39) |
S213P |
probably damaging |
Het |
Nol10 |
A |
G |
12: 17,466,102 (GRCm39) |
E499G |
probably benign |
Het |
Nxn |
T |
C |
11: 76,289,627 (GRCm39) |
E87G |
probably damaging |
Het |
Or14c40 |
A |
G |
7: 86,313,811 (GRCm39) |
T314A |
probably benign |
Het |
Or51f2 |
T |
A |
7: 102,526,892 (GRCm39) |
C188* |
probably null |
Het |
Or8g23 |
T |
C |
9: 38,971,395 (GRCm39) |
H189R |
probably benign |
Het |
Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,698,819 (GRCm39) |
|
probably benign |
Het |
Pigk |
A |
G |
3: 152,472,151 (GRCm39) |
I354M |
probably damaging |
Het |
Pigl |
T |
A |
11: 62,349,508 (GRCm39) |
C75S |
probably damaging |
Het |
Pm20d1 |
T |
A |
1: 131,739,852 (GRCm39) |
I400N |
probably benign |
Het |
Prkg2 |
T |
A |
5: 99,172,664 (GRCm39) |
H17L |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,003,719 (GRCm39) |
L168Q |
probably damaging |
Het |
Rab3gap2 |
A |
T |
1: 185,010,478 (GRCm39) |
H1136L |
possibly damaging |
Het |
Rb1 |
T |
C |
14: 73,532,433 (GRCm39) |
T134A |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,367,220 (GRCm39) |
E1024G |
probably damaging |
Het |
Rrp12 |
A |
G |
19: 41,861,376 (GRCm39) |
V977A |
probably benign |
Het |
Rusc2 |
C |
T |
4: 43,415,212 (GRCm39) |
P173S |
probably benign |
Het |
Selenov |
A |
T |
7: 27,987,447 (GRCm39) |
D310E |
probably damaging |
Het |
Serpina3f |
T |
A |
12: 104,183,582 (GRCm39) |
L148Q |
probably damaging |
Het |
Slc10a1 |
C |
T |
12: 81,007,221 (GRCm39) |
V187I |
probably benign |
Het |
Spsb2 |
A |
G |
6: 124,787,339 (GRCm39) |
K258E |
probably damaging |
Het |
Tas2r105 |
A |
C |
6: 131,664,365 (GRCm39) |
V21G |
probably benign |
Het |
Tmem229b-ps |
T |
A |
10: 53,351,295 (GRCm39) |
|
noncoding transcript |
Het |
Tnrc6a |
C |
G |
7: 122,770,269 (GRCm39) |
H686Q |
probably benign |
Het |
Trpc2 |
T |
A |
7: 101,743,780 (GRCm39) |
F715L |
probably benign |
Het |
Ube2t |
T |
A |
1: 134,897,036 (GRCm39) |
I56N |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,207,963 (GRCm39) |
Y4915H |
possibly damaging |
Het |
Vipr2 |
T |
G |
12: 116,086,430 (GRCm39) |
|
probably null |
Het |
Vmn1r15 |
A |
G |
6: 57,235,269 (GRCm39) |
T46A |
probably benign |
Het |
Vmn1r203 |
T |
G |
13: 22,708,617 (GRCm39) |
S133A |
possibly damaging |
Het |
Vmn1r215 |
T |
G |
13: 23,260,378 (GRCm39) |
N139K |
probably damaging |
Het |
Vmn1r232 |
C |
T |
17: 21,133,601 (GRCm39) |
R333H |
probably benign |
Het |
Wdr20rt |
C |
A |
12: 65,273,988 (GRCm39) |
H311N |
possibly damaging |
Het |
Zranb1 |
T |
C |
7: 132,568,425 (GRCm39) |
|
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 |
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 |
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'- ATATTCCCAGCCTAAACCTGAG -3'
(R):5'- GATAGGCTTTCTGTATTCTGGCAC -3'
Sequencing Primer
(F):5'- CAGGTATGCTCAGTCTACATAGC -3'
(R):5'- CACCAGGGGCAGATATGTGC -3'
|
Posted On |
2014-08-25 |