Incidental Mutation 'R9652:Usp32'
ID |
735397 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp32
|
Ensembl Gene |
ENSMUSG00000000804 |
Gene Name |
ubiquitin specific peptidase 32 |
Synonyms |
2900074J03Rik, 6430526O11Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9652 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
84875268-85030987 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84921317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 699
(V699A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108075]
|
AlphaFold |
F8VPZ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000821
|
SMART Domains |
Protein: ENSMUSP00000000821 Gene: ENSMUSG00000000804
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 damaging
Transcript: ENSMUST00000108075
AA Change: V699A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103710 Gene: ENSMUSG00000000804 AA Change: V699A
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 |
|
SMART Domains |
Protein: ENSMUSP00000134476 Gene: ENSMUSG00000000804 AA Change: V203A
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: 99.9%
- 3x: 99.8%
- 10x: 99.6%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l1 |
G |
A |
18: 61,876,432 (GRCm39) |
T395M |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,557,783 (GRCm39) |
N35D |
probably damaging |
Het |
Atr |
T |
A |
9: 95,756,887 (GRCm39) |
L922Q |
probably damaging |
Het |
B3gnt9 |
G |
T |
8: 105,981,129 (GRCm39) |
F86L |
probably damaging |
Het |
Bmp1 |
T |
C |
14: 70,715,360 (GRCm39) |
D925G |
probably damaging |
Het |
Camkmt |
A |
T |
17: 85,759,713 (GRCm39) |
R284S |
probably benign |
Het |
Cavin3 |
G |
T |
7: 105,131,304 (GRCm39) |
H21Q |
probably damaging |
Het |
Ccp110 |
A |
G |
7: 118,334,553 (GRCm39) |
H180R |
|
Het |
Cdh23 |
A |
T |
10: 60,167,135 (GRCm39) |
V1837E |
probably damaging |
Het |
Ces3b |
G |
T |
8: 105,812,257 (GRCm39) |
A169S |
probably damaging |
Het |
Chpt1 |
T |
C |
10: 88,325,499 (GRCm39) |
N122S |
probably benign |
Het |
Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
Ctbp2 |
C |
G |
7: 132,615,933 (GRCm39) |
R334P |
probably damaging |
Het |
Cwh43 |
T |
C |
5: 73,572,340 (GRCm39) |
S193P |
probably benign |
Het |
Dcstamp |
A |
T |
15: 39,623,792 (GRCm39) |
D469V |
probably benign |
Het |
Dst |
T |
A |
1: 34,219,458 (GRCm39) |
I1966N |
probably benign |
Het |
Eif3i |
G |
T |
4: 129,489,094 (GRCm39) |
F121L |
probably benign |
Het |
Erbb2 |
T |
C |
11: 98,326,812 (GRCm39) |
S1074P |
probably damaging |
Het |
Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,146,722 (GRCm39) |
|
probably null |
Het |
Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
Gm2a |
T |
C |
11: 54,999,764 (GRCm39) |
V95A |
probably benign |
Het |
Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
Gramd4 |
G |
A |
15: 86,016,160 (GRCm39) |
E504K |
probably damaging |
Het |
Gusb |
A |
G |
5: 130,026,652 (GRCm39) |
S450P |
probably damaging |
Het |
Htr5a |
A |
G |
5: 28,047,838 (GRCm39) |
N131S |
possibly damaging |
Het |
Itga2 |
G |
A |
13: 115,020,991 (GRCm39) |
P120L |
probably benign |
Het |
Itpkb |
G |
T |
1: 180,160,056 (GRCm39) |
E61* |
probably null |
Het |
Katnbl1 |
T |
A |
2: 112,239,497 (GRCm39) |
V232D |
probably damaging |
Het |
Kifap3 |
T |
C |
1: 163,689,657 (GRCm39) |
L547P |
probably damaging |
Het |
Krt6a |
C |
T |
15: 101,599,120 (GRCm39) |
V482M |
probably benign |
Het |
Lrfn5 |
T |
A |
12: 61,890,418 (GRCm39) |
V569D |
probably damaging |
Het |
Luzp2 |
A |
G |
7: 54,702,580 (GRCm39) |
T48A |
probably damaging |
Het |
Mical2 |
G |
T |
7: 111,945,996 (GRCm39) |
R986L |
probably damaging |
Het |
Mroh8 |
G |
A |
2: 157,094,970 (GRCm39) |
Q339* |
probably null |
Het |
Msln |
A |
T |
17: 25,968,042 (GRCm39) |
V541E |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,498,178 (GRCm39) |
M6590L |
probably benign |
Het |
Nhsl3 |
T |
C |
4: 129,117,962 (GRCm39) |
E279G |
possibly damaging |
Het |
Nisch |
A |
T |
14: 30,893,628 (GRCm39) |
V1315E |
probably damaging |
Het |
Nubp2 |
G |
A |
17: 25,103,382 (GRCm39) |
T165I |
probably damaging |
Het |
Oog3 |
T |
G |
4: 143,884,489 (GRCm39) |
R482S |
probably benign |
Het |
Or2a7 |
A |
G |
6: 43,150,991 (GRCm39) |
M24V |
probably benign |
Het |
Or56a42-ps1 |
A |
T |
7: 104,775,985 (GRCm39) |
N164K |
probably benign |
Het |
Or6c33 |
T |
C |
10: 129,853,809 (GRCm39) |
I193T |
possibly damaging |
Het |
Or7a41 |
T |
C |
10: 78,871,230 (GRCm39) |
I200T |
probably benign |
Het |
Or8k39 |
A |
T |
2: 86,563,636 (GRCm39) |
F107I |
probably damaging |
Het |
P3h4 |
A |
T |
11: 100,304,499 (GRCm39) |
C247* |
probably null |
Het |
Pakap |
G |
A |
4: 57,710,125 (GRCm39) |
A357T |
possibly damaging |
Het |
Plch2 |
T |
A |
4: 155,082,942 (GRCm39) |
M569L |
probably benign |
Het |
Plcl1 |
A |
G |
1: 55,735,450 (GRCm39) |
T264A |
probably benign |
Het |
Rad51ap1 |
G |
T |
6: 126,904,526 (GRCm39) |
N178K |
probably benign |
Het |
Rasa4 |
T |
C |
5: 136,130,494 (GRCm39) |
L340P |
probably damaging |
Het |
Rassf10 |
A |
G |
7: 112,554,784 (GRCm39) |
T462A |
probably benign |
Het |
Rlf |
G |
C |
4: 121,007,865 (GRCm39) |
L482V |
probably damaging |
Het |
Robo1 |
T |
G |
16: 72,821,330 (GRCm39) |
S1357A |
possibly damaging |
Het |
Rp1l1 |
T |
C |
14: 64,269,714 (GRCm39) |
S1767P |
probably damaging |
Het |
Rpl3l |
T |
A |
17: 24,947,328 (GRCm39) |
L14Q |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,635,047 (GRCm39) |
T2024S |
possibly damaging |
Het |
Sbf2 |
T |
C |
7: 110,040,702 (GRCm39) |
Q375R |
possibly damaging |
Het |
Sema6a |
T |
C |
18: 47,382,252 (GRCm39) |
Q765R |
probably damaging |
Het |
Senp6 |
T |
A |
9: 80,021,228 (GRCm39) |
Y303N |
probably damaging |
Het |
Sertad4 |
C |
T |
1: 192,528,836 (GRCm39) |
D327N |
probably damaging |
Het |
Slc22a15 |
T |
A |
3: 101,790,848 (GRCm39) |
Y219F |
possibly damaging |
Het |
Slco1b2 |
T |
G |
6: 141,594,358 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
G |
T |
2: 127,067,959 (GRCm39) |
V819L |
probably damaging |
Het |
Ssb |
C |
A |
2: 69,700,784 (GRCm39) |
A288E |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,101,620 (GRCm39) |
H638R |
probably benign |
Het |
Tm7sf3 |
A |
G |
6: 146,527,698 (GRCm39) |
S43P |
probably benign |
Het |
Tmem200c |
A |
G |
17: 69,149,181 (GRCm39) |
H588R |
probably benign |
Het |
Tnpo3 |
G |
A |
6: 29,560,173 (GRCm39) |
R657* |
probably null |
Het |
Traf6 |
T |
C |
2: 101,518,927 (GRCm39) |
C139R |
probably damaging |
Het |
Txnrd1 |
C |
A |
10: 82,720,390 (GRCm39) |
N424K |
possibly damaging |
Het |
Ubqln3 |
T |
C |
7: 103,791,962 (GRCm39) |
I43V |
probably damaging |
Het |
Vmn2r103 |
T |
C |
17: 20,014,027 (GRCm39) |
V273A |
probably benign |
Het |
Vmn2r8 |
A |
G |
5: 108,951,107 (GRCm39) |
S113P |
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,860,826 (GRCm39) |
I161N |
probably damaging |
Het |
Zfp474 |
A |
T |
18: 52,772,015 (GRCm39) |
I223F |
probably damaging |
Het |
Zfp583 |
A |
G |
7: 6,320,328 (GRCm39) |
L228P |
probably damaging |
Het |
Zfyve27 |
A |
G |
19: 42,165,856 (GRCm39) |
T76A |
possibly damaging |
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 |
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 |
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'- TCTTCCTCGGTTAGCCTAAGG -3'
(R):5'- CCTTCACTTTGGCACCTAAACTATAG -3'
Sequencing Primer
(F):5'- GATACTAGAAGTTCAGTGGGTCTAC -3'
(R):5'- TGAACAACTAAGTATCCGTAACATG -3'
|
Posted On |
2022-11-14 |