Incidental Mutation 'R2010:Usp32'
ID |
219532 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp32
|
Ensembl Gene |
ENSMUSG00000000804 |
Gene Name |
ubiquitin specific peptidase 32 |
Synonyms |
6430526O11Rik, 2900074J03Rik |
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 |
84984442-85140161 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 85040004 bp (GRCm38)
|
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: 36,481,806 (GRCm38) |
G74S |
unknown |
Het |
Aimp1 |
A |
T |
3: 132,667,492 (GRCm38) |
L229Q |
probably benign |
Het |
Arhgef6 |
T |
C |
X: 57,299,505 (GRCm38) |
T52A |
possibly damaging |
Het |
Aste1 |
C |
A |
9: 105,403,502 (GRCm38) |
H25Q |
probably damaging |
Het |
Atp13a1 |
G |
A |
8: 69,791,360 (GRCm38) |
G36R |
possibly damaging |
Het |
Bahcc1 |
T |
C |
11: 120,272,778 (GRCm38) |
V634A |
probably damaging |
Het |
Bltp1 |
T |
G |
3: 36,928,551 (GRCm38) |
N788K |
probably benign |
Het |
C1s1 |
A |
T |
6: 124,537,394 (GRCm38) |
Y168N |
probably damaging |
Het |
Camsap2 |
T |
C |
1: 136,274,868 (GRCm38) |
S612G |
probably damaging |
Het |
Cdh23 |
C |
A |
10: 60,314,227 (GRCm38) |
R2611L |
probably damaging |
Het |
Cfap20dc |
A |
T |
14: 8,511,021 (GRCm38) |
F464L |
probably damaging |
Het |
Cilp2 |
A |
G |
8: 69,881,694 (GRCm38) |
Y885H |
probably damaging |
Het |
Dhrs3 |
C |
T |
4: 144,927,188 (GRCm38) |
T227I |
possibly damaging |
Het |
Dnah2 |
A |
T |
11: 69,458,358 (GRCm38) |
|
probably null |
Het |
Dnah3 |
T |
G |
7: 120,095,177 (GRCm38) |
M1L |
probably benign |
Het |
Ehbp1l1 |
A |
G |
19: 5,719,283 (GRCm38) |
I664T |
probably benign |
Het |
Eif4e |
C |
T |
3: 138,555,458 (GRCm38) |
T171I |
probably benign |
Het |
Elfn1 |
C |
T |
5: 139,973,316 (GRCm38) |
R692W |
probably damaging |
Het |
Eps8l3 |
T |
A |
3: 107,879,372 (GRCm38) |
M1K |
probably null |
Het |
Evi5 |
C |
A |
5: 107,813,545 (GRCm38) |
|
probably null |
Het |
Fancd2 |
A |
T |
6: 113,593,291 (GRCm38) |
D1401V |
probably damaging |
Het |
Fat2 |
G |
A |
11: 55,253,827 (GRCm38) |
R4074C |
probably damaging |
Het |
Fkbp4 |
A |
T |
6: 128,435,802 (GRCm38) |
V55E |
probably benign |
Het |
Fnip1 |
A |
G |
11: 54,482,503 (GRCm38) |
D180G |
probably damaging |
Het |
Galc |
A |
G |
12: 98,254,230 (GRCm38) |
F126S |
possibly damaging |
Het |
Gdf7 |
C |
T |
12: 8,301,729 (GRCm38) |
V69M |
unknown |
Het |
Glis2 |
A |
G |
16: 4,608,711 (GRCm38) |
E22G |
probably damaging |
Het |
H2bc3 |
G |
A |
13: 23,747,128 (GRCm38) |
V112M |
possibly damaging |
Het |
Hps4 |
T |
A |
5: 112,369,476 (GRCm38) |
V243E |
probably damaging |
Het |
Ighe |
T |
A |
12: 113,271,488 (GRCm38) |
I351F |
unknown |
Het |
Irak4 |
A |
T |
15: 94,551,806 (GRCm38) |
R55S |
probably damaging |
Het |
Itpr2 |
G |
A |
6: 146,227,524 (GRCm38) |
|
probably null |
Het |
Katnip |
A |
G |
7: 125,872,956 (GRCm38) |
I1544M |
possibly damaging |
Het |
Kirrel3 |
T |
C |
9: 34,939,198 (GRCm38) |
Y41H |
probably damaging |
Het |
Krr1 |
A |
G |
10: 111,975,569 (GRCm38) |
E56G |
possibly damaging |
Het |
Lgi1 |
G |
A |
19: 38,301,235 (GRCm38) |
V250I |
probably damaging |
Het |
Lipf |
A |
G |
19: 33,973,546 (GRCm38) |
N306D |
probably benign |
Het |
Lman2l |
C |
T |
1: 36,445,181 (GRCm38) |
W18* |
probably null |
Het |
Lztfl1 |
T |
A |
9: 123,702,186 (GRCm38) |
N239I |
possibly damaging |
Het |
Mief1 |
T |
C |
15: 80,247,925 (GRCm38) |
S66P |
possibly damaging |
Het |
Mmp8 |
C |
A |
9: 7,567,534 (GRCm38) |
S465* |
probably null |
Het |
Muc2 |
A |
T |
7: 141,700,875 (GRCm38) |
T208S |
probably damaging |
Het |
Myh8 |
A |
T |
11: 67,297,164 (GRCm38) |
K921* |
probably null |
Het |
Myh9 |
T |
C |
15: 77,771,947 (GRCm38) |
E1121G |
probably benign |
Het |
Nbn |
T |
C |
4: 15,969,393 (GRCm38) |
S213P |
probably damaging |
Het |
Nol10 |
A |
G |
12: 17,416,101 (GRCm38) |
E499G |
probably benign |
Het |
Nxn |
T |
C |
11: 76,398,801 (GRCm38) |
E87G |
probably damaging |
Het |
Or14c40 |
A |
G |
7: 86,664,603 (GRCm38) |
T314A |
probably benign |
Het |
Or51f2 |
T |
A |
7: 102,877,685 (GRCm38) |
C188* |
probably null |
Het |
Or8g23 |
T |
C |
9: 39,060,099 (GRCm38) |
H189R |
probably benign |
Het |
Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,775,354 (GRCm38) |
|
probably benign |
Het |
Pigk |
A |
G |
3: 152,766,514 (GRCm38) |
I354M |
probably damaging |
Het |
Pigl |
T |
A |
11: 62,458,682 (GRCm38) |
C75S |
probably damaging |
Het |
Pm20d1 |
T |
A |
1: 131,812,114 (GRCm38) |
I400N |
probably benign |
Het |
Prkg2 |
T |
A |
5: 99,024,805 (GRCm38) |
H17L |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,075,997 (GRCm38) |
L168Q |
probably damaging |
Het |
Rab3gap2 |
A |
T |
1: 185,278,281 (GRCm38) |
H1136L |
possibly damaging |
Het |
Rb1 |
T |
C |
14: 73,294,993 (GRCm38) |
T134A |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,296,996 (GRCm38) |
E1024G |
probably damaging |
Het |
Rrp12 |
A |
G |
19: 41,872,937 (GRCm38) |
V977A |
probably benign |
Het |
Rusc2 |
C |
T |
4: 43,415,212 (GRCm38) |
P173S |
probably benign |
Het |
Selenov |
A |
T |
7: 28,288,022 (GRCm38) |
D310E |
probably damaging |
Het |
Serpina3f |
T |
A |
12: 104,217,323 (GRCm38) |
L148Q |
probably damaging |
Het |
Slc10a1 |
C |
T |
12: 80,960,447 (GRCm38) |
V187I |
probably benign |
Het |
Spsb2 |
A |
G |
6: 124,810,376 (GRCm38) |
K258E |
probably damaging |
Het |
Tas2r105 |
A |
C |
6: 131,687,402 (GRCm38) |
V21G |
probably benign |
Het |
Tmem229b-ps |
T |
A |
10: 53,475,199 (GRCm38) |
|
noncoding transcript |
Het |
Tnrc6a |
C |
G |
7: 123,171,046 (GRCm38) |
H686Q |
probably benign |
Het |
Trpc2 |
T |
A |
7: 102,094,573 (GRCm38) |
F715L |
probably benign |
Het |
Ube2t |
T |
A |
1: 134,969,298 (GRCm38) |
I56N |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,480,652 (GRCm38) |
Y4915H |
possibly damaging |
Het |
Vipr2 |
T |
G |
12: 116,122,810 (GRCm38) |
|
probably null |
Het |
Vmn1r15 |
A |
G |
6: 57,258,284 (GRCm38) |
T46A |
probably benign |
Het |
Vmn1r203 |
T |
G |
13: 22,524,447 (GRCm38) |
S133A |
possibly damaging |
Het |
Vmn1r215 |
T |
G |
13: 23,076,208 (GRCm38) |
N139K |
probably damaging |
Het |
Vmn1r232 |
C |
T |
17: 20,913,339 (GRCm38) |
R333H |
probably benign |
Het |
Wdr20rt |
C |
A |
12: 65,227,214 (GRCm38) |
H311N |
possibly damaging |
Het |
Zranb1 |
T |
C |
7: 132,966,696 (GRCm38) |
|
probably null |
Het |
|
Other mutations in Usp32 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00529:Usp32
|
APN |
11 |
84,994,426 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL00701:Usp32
|
APN |
11 |
85,059,125 (GRCm38) |
splice site |
probably null |
|
IGL00848:Usp32
|
APN |
11 |
85,051,181 (GRCm38) |
splice site |
probably benign |
|
IGL00934:Usp32
|
APN |
11 |
85,007,076 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01019:Usp32
|
APN |
11 |
85,039,265 (GRCm38) |
missense |
probably damaging |
0.97 |
IGL01302:Usp32
|
APN |
11 |
84,988,482 (GRCm38) |
missense |
probably benign |
0.05 |
IGL01444:Usp32
|
APN |
11 |
85,059,164 (GRCm38) |
missense |
probably damaging |
0.97 |
IGL01575:Usp32
|
APN |
11 |
85,022,802 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01981:Usp32
|
APN |
11 |
85,036,524 (GRCm38) |
missense |
probably benign |
0.02 |
IGL02118:Usp32
|
APN |
11 |
85,032,177 (GRCm38) |
nonsense |
probably null |
|
IGL02159:Usp32
|
APN |
11 |
85,005,802 (GRCm38) |
splice site |
probably null |
|
IGL02227:Usp32
|
APN |
11 |
84,986,481 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02363:Usp32
|
APN |
11 |
85,044,787 (GRCm38) |
missense |
probably benign |
0.01 |
IGL02524:Usp32
|
APN |
11 |
85,010,011 (GRCm38) |
nonsense |
probably null |
|
IGL02613:Usp32
|
APN |
11 |
85,040,070 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL02720:Usp32
|
APN |
11 |
85,006,991 (GRCm38) |
critical splice donor site |
probably null |
|
IGL02738:Usp32
|
APN |
11 |
85,083,806 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02929:Usp32
|
APN |
11 |
84,988,372 (GRCm38) |
missense |
probably benign |
0.01 |
IGL03303:Usp32
|
APN |
11 |
85,022,832 (GRCm38) |
missense |
probably damaging |
1.00 |
BB010:Usp32
|
UTSW |
11 |
85,007,059 (GRCm38) |
missense |
probably damaging |
1.00 |
BB020:Usp32
|
UTSW |
11 |
85,007,059 (GRCm38) |
missense |
probably damaging |
1.00 |
PIT4812001:Usp32
|
UTSW |
11 |
85,010,074 (GRCm38) |
missense |
probably damaging |
1.00 |
R0026:Usp32
|
UTSW |
11 |
85,032,074 (GRCm38) |
missense |
possibly damaging |
0.48 |
R0295:Usp32
|
UTSW |
11 |
85,053,692 (GRCm38) |
missense |
probably damaging |
0.98 |
R1320:Usp32
|
UTSW |
11 |
85,017,793 (GRCm38) |
missense |
probably damaging |
0.98 |
R1712:Usp32
|
UTSW |
11 |
85,042,580 (GRCm38) |
missense |
probably benign |
0.12 |
R1922:Usp32
|
UTSW |
11 |
85,007,004 (GRCm38) |
nonsense |
probably null |
|
R1973:Usp32
|
UTSW |
11 |
85,103,931 (GRCm38) |
missense |
probably benign |
0.09 |
R2082:Usp32
|
UTSW |
11 |
85,030,512 (GRCm38) |
missense |
probably damaging |
0.99 |
R2355:Usp32
|
UTSW |
11 |
85,005,909 (GRCm38) |
missense |
probably benign |
0.34 |
R3147:Usp32
|
UTSW |
11 |
85,029,087 (GRCm38) |
missense |
probably damaging |
1.00 |
R3160:Usp32
|
UTSW |
11 |
85,025,536 (GRCm38) |
missense |
probably damaging |
0.97 |
R3162:Usp32
|
UTSW |
11 |
85,025,536 (GRCm38) |
missense |
probably damaging |
0.97 |
R3716:Usp32
|
UTSW |
11 |
85,042,563 (GRCm38) |
missense |
probably damaging |
1.00 |
R3816:Usp32
|
UTSW |
11 |
84,994,384 (GRCm38) |
critical splice donor site |
probably null |
|
R3870:Usp32
|
UTSW |
11 |
85,007,055 (GRCm38) |
nonsense |
probably null |
|
R3871:Usp32
|
UTSW |
11 |
85,081,156 (GRCm38) |
missense |
probably null |
0.81 |
R4041:Usp32
|
UTSW |
11 |
85,017,739 (GRCm38) |
missense |
probably benign |
0.40 |
R4079:Usp32
|
UTSW |
11 |
85,039,229 (GRCm38) |
missense |
probably damaging |
0.98 |
R4332:Usp32
|
UTSW |
11 |
85,103,978 (GRCm38) |
missense |
possibly damaging |
0.79 |
R4396:Usp32
|
UTSW |
11 |
85,053,975 (GRCm38) |
missense |
probably benign |
|
R4580:Usp32
|
UTSW |
11 |
85,059,127 (GRCm38) |
critical splice donor site |
probably null |
|
R4620:Usp32
|
UTSW |
11 |
85,059,127 (GRCm38) |
critical splice donor site |
probably null |
|
R4744:Usp32
|
UTSW |
11 |
84,994,393 (GRCm38) |
missense |
probably damaging |
1.00 |
R4909:Usp32
|
UTSW |
11 |
85,055,772 (GRCm38) |
nonsense |
probably null |
|
R5056:Usp32
|
UTSW |
11 |
85,026,795 (GRCm38) |
missense |
probably benign |
0.07 |
R5111:Usp32
|
UTSW |
11 |
85,077,331 (GRCm38) |
missense |
possibly damaging |
0.95 |
R5213:Usp32
|
UTSW |
11 |
85,022,259 (GRCm38) |
missense |
probably damaging |
1.00 |
R5308:Usp32
|
UTSW |
11 |
85,017,718 (GRCm38) |
missense |
probably benign |
0.12 |
R5381:Usp32
|
UTSW |
11 |
85,059,127 (GRCm38) |
critical splice donor site |
probably benign |
|
R5538:Usp32
|
UTSW |
11 |
85,017,786 (GRCm38) |
missense |
possibly damaging |
0.65 |
R5659:Usp32
|
UTSW |
11 |
85,077,414 (GRCm38) |
missense |
possibly damaging |
0.94 |
R6006:Usp32
|
UTSW |
11 |
84,992,451 (GRCm38) |
critical splice donor site |
probably null |
|
R6011:Usp32
|
UTSW |
11 |
85,032,097 (GRCm38) |
missense |
possibly damaging |
0.70 |
R6029:Usp32
|
UTSW |
11 |
85,025,582 (GRCm38) |
missense |
probably damaging |
0.99 |
R6074:Usp32
|
UTSW |
11 |
84,994,573 (GRCm38) |
missense |
probably benign |
0.00 |
R6331:Usp32
|
UTSW |
11 |
84,986,576 (GRCm38) |
missense |
possibly damaging |
0.92 |
R6353:Usp32
|
UTSW |
11 |
85,022,281 (GRCm38) |
missense |
probably benign |
|
R6714:Usp32
|
UTSW |
11 |
85,026,870 (GRCm38) |
missense |
probably damaging |
0.99 |
R6778:Usp32
|
UTSW |
11 |
85,025,686 (GRCm38) |
missense |
probably benign |
0.00 |
R6988:Usp32
|
UTSW |
11 |
85,010,143 (GRCm38) |
missense |
probably benign |
0.35 |
R6992:Usp32
|
UTSW |
11 |
85,032,088 (GRCm38) |
missense |
probably damaging |
0.99 |
R7182:Usp32
|
UTSW |
11 |
85,040,170 (GRCm38) |
missense |
probably benign |
0.34 |
R7186:Usp32
|
UTSW |
11 |
85,051,234 (GRCm38) |
missense |
probably benign |
0.45 |
R7198:Usp32
|
UTSW |
11 |
85,022,855 (GRCm38) |
frame shift |
probably null |
|
R7201:Usp32
|
UTSW |
11 |
85,022,855 (GRCm38) |
frame shift |
probably null |
|
R7469:Usp32
|
UTSW |
11 |
84,988,553 (GRCm38) |
missense |
possibly damaging |
0.94 |
R7502:Usp32
|
UTSW |
11 |
85,022,898 (GRCm38) |
missense |
possibly damaging |
0.48 |
R7513:Usp32
|
UTSW |
11 |
85,027,112 (GRCm38) |
nonsense |
probably null |
|
R7629:Usp32
|
UTSW |
11 |
85,019,855 (GRCm38) |
frame shift |
probably null |
|
R7703:Usp32
|
UTSW |
11 |
85,077,327 (GRCm38) |
missense |
probably damaging |
0.99 |
R7741:Usp32
|
UTSW |
11 |
84,987,281 (GRCm38) |
missense |
probably damaging |
0.99 |
R7765:Usp32
|
UTSW |
11 |
84,994,408 (GRCm38) |
missense |
probably damaging |
1.00 |
R7933:Usp32
|
UTSW |
11 |
85,007,059 (GRCm38) |
missense |
probably damaging |
1.00 |
R7973:Usp32
|
UTSW |
11 |
85,022,808 (GRCm38) |
missense |
probably damaging |
0.99 |
R7989:Usp32
|
UTSW |
11 |
85,034,300 (GRCm38) |
missense |
|
|
R7998:Usp32
|
UTSW |
11 |
84,994,426 (GRCm38) |
missense |
probably damaging |
1.00 |
R8292:Usp32
|
UTSW |
11 |
85,077,401 (GRCm38) |
missense |
probably damaging |
0.99 |
R8305:Usp32
|
UTSW |
11 |
85,032,185 (GRCm38) |
missense |
possibly damaging |
0.83 |
R8548:Usp32
|
UTSW |
11 |
85,017,827 (GRCm38) |
missense |
possibly damaging |
0.52 |
R8924:Usp32
|
UTSW |
11 |
85,025,544 (GRCm38) |
missense |
probably damaging |
0.98 |
R9002:Usp32
|
UTSW |
11 |
85,053,951 (GRCm38) |
missense |
probably damaging |
0.96 |
R9145:Usp32
|
UTSW |
11 |
85,022,292 (GRCm38) |
missense |
probably damaging |
1.00 |
R9209:Usp32
|
UTSW |
11 |
85,040,012 (GRCm38) |
missense |
probably damaging |
0.98 |
R9211:Usp32
|
UTSW |
11 |
85,022,733 (GRCm38) |
missense |
probably damaging |
1.00 |
R9296:Usp32
|
UTSW |
11 |
85,017,652 (GRCm38) |
missense |
probably damaging |
1.00 |
R9310:Usp32
|
UTSW |
11 |
85,051,202 (GRCm38) |
missense |
probably benign |
0.29 |
R9417:Usp32
|
UTSW |
11 |
84,994,543 (GRCm38) |
missense |
probably damaging |
1.00 |
R9514:Usp32
|
UTSW |
11 |
85,022,734 (GRCm38) |
missense |
probably damaging |
0.99 |
R9652:Usp32
|
UTSW |
11 |
85,030,491 (GRCm38) |
missense |
probably damaging |
0.97 |
R9723:Usp32
|
UTSW |
11 |
85,044,710 (GRCm38) |
nonsense |
probably null |
|
R9757:Usp32
|
UTSW |
11 |
85,077,329 (GRCm38) |
nonsense |
probably null |
|
X0028:Usp32
|
UTSW |
11 |
84,992,606 (GRCm38) |
missense |
probably benign |
0.05 |
Z1177:Usp32
|
UTSW |
11 |
84,988,612 (GRCm38) |
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 |