Incidental Mutation 'R4580:Usp32'
| ID |
343614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp32
|
| Ensembl Gene |
ENSMUSG00000000804 |
| Gene Name |
ubiquitin specific peptidase 32 |
| Synonyms |
2900074J03Rik, 6430526O11Rik |
| MMRRC Submission |
041599-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4580 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
T |
C |
11: 69,791,237 (GRCm39) |
Y114C |
probably damaging |
Het |
| Abcc2 |
T |
C |
19: 43,799,558 (GRCm39) |
S556P |
probably damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Atp6v1g1 |
A |
G |
4: 63,468,269 (GRCm39) |
N91D |
probably benign |
Het |
| BC005537 |
G |
T |
13: 24,987,394 (GRCm39) |
A11S |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,084,174 (GRCm39) |
T3864S |
probably benign |
Het |
| Bub1 |
A |
C |
2: 127,671,596 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
T |
C |
10: 41,437,136 (GRCm39) |
T1758A |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,591,897 (GRCm39) |
L594P |
probably damaging |
Het |
| Cobll1 |
C |
T |
2: 64,981,417 (GRCm39) |
V90I |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,271,875 (GRCm39) |
V463A |
probably benign |
Het |
| Cpeb4 |
T |
A |
11: 31,877,757 (GRCm39) |
|
probably null |
Het |
| Creb5 |
G |
A |
6: 53,581,519 (GRCm39) |
M172I |
possibly damaging |
Het |
| Cyp4a32 |
T |
C |
4: 115,460,126 (GRCm39) |
|
silent |
Het |
| Dnah8 |
T |
A |
17: 30,881,026 (GRCm39) |
S588T |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,840,751 (GRCm39) |
Y669C |
probably damaging |
Het |
| Esd |
T |
C |
14: 74,979,517 (GRCm39) |
V120A |
possibly damaging |
Het |
| Fbxo5 |
T |
C |
10: 5,755,255 (GRCm39) |
|
probably null |
Het |
| Gm4922 |
T |
C |
10: 18,659,432 (GRCm39) |
D430G |
probably benign |
Het |
| Golga4 |
C |
A |
9: 118,386,327 (GRCm39) |
Q1150K |
probably benign |
Het |
| Grb14 |
T |
C |
2: 64,783,947 (GRCm39) |
N60S |
probably benign |
Het |
| Grk4 |
A |
G |
5: 34,818,325 (GRCm39) |
N2S |
probably damaging |
Het |
| Henmt1 |
T |
A |
3: 108,850,081 (GRCm39) |
S21R |
probably benign |
Het |
| Ifngr2 |
A |
G |
16: 91,354,906 (GRCm39) |
K113E |
probably benign |
Het |
| Ighv15-2 |
T |
A |
12: 114,528,590 (GRCm39) |
T15S |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,395,287 (GRCm39) |
S529P |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,200,957 (GRCm39) |
N51S |
possibly damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,111,599 (GRCm39) |
E773G |
possibly damaging |
Het |
| Lrfn3 |
A |
T |
7: 30,059,467 (GRCm39) |
C253S |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,517,832 (GRCm39) |
V130A |
possibly damaging |
Het |
| Marchf11 |
A |
T |
15: 26,311,189 (GRCm39) |
I222F |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,873,766 (GRCm39) |
Y1699* |
probably null |
Het |
| Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
| Mpzl3 |
T |
A |
9: 44,979,529 (GRCm39) |
V160E |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 48,885,388 (GRCm39) |
S88P |
possibly damaging |
Het |
| Myl2 |
A |
T |
5: 122,244,801 (GRCm39) |
H157L |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,767,779 (GRCm39) |
N284S |
probably damaging |
Het |
| Nphp1 |
A |
G |
2: 127,610,089 (GRCm39) |
|
probably null |
Het |
| Nrcam |
T |
C |
12: 44,609,323 (GRCm39) |
|
probably null |
Het |
| Nt5c3b |
G |
T |
11: 100,323,885 (GRCm39) |
F134L |
probably damaging |
Het |
| Or4c120 |
T |
A |
2: 89,001,544 (GRCm39) |
Q4L |
probably benign |
Het |
| Otog |
A |
G |
7: 45,937,225 (GRCm39) |
R1645G |
possibly damaging |
Het |
| Pask |
T |
C |
1: 93,249,830 (GRCm39) |
I523M |
probably benign |
Het |
| Pcdhb7 |
T |
A |
18: 37,475,188 (GRCm39) |
L108Q |
probably damaging |
Het |
| Pdp2 |
C |
A |
8: 105,321,576 (GRCm39) |
T475K |
probably damaging |
Het |
| Pgbd1 |
G |
C |
13: 21,612,499 (GRCm39) |
P113A |
probably benign |
Het |
| Plk5 |
C |
T |
10: 80,196,301 (GRCm39) |
H291Y |
possibly damaging |
Het |
| Pmpca |
G |
T |
2: 26,283,347 (GRCm39) |
S382I |
probably damaging |
Het |
| Prl3b1 |
A |
G |
13: 27,433,450 (GRCm39) |
T202A |
possibly damaging |
Het |
| Ptgs2 |
A |
T |
1: 149,979,845 (GRCm39) |
T317S |
possibly damaging |
Het |
| Ptprc |
C |
T |
1: 137,998,989 (GRCm39) |
M1020I |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,244,471 (GRCm39) |
Y393H |
probably damaging |
Het |
| Sema3e |
T |
C |
5: 14,283,717 (GRCm39) |
L482P |
probably damaging |
Het |
| Setd2 |
C |
T |
9: 110,403,311 (GRCm39) |
T1984I |
probably benign |
Het |
| Slc17a1 |
T |
C |
13: 24,071,960 (GRCm39) |
Y393H |
probably damaging |
Het |
| Slc9a3 |
C |
T |
13: 74,307,005 (GRCm39) |
R377* |
probably null |
Het |
| Slitrk3 |
A |
G |
3: 72,958,539 (GRCm39) |
S78P |
probably damaging |
Het |
| Smim35 |
G |
T |
9: 45,155,426 (GRCm39) |
|
probably null |
Het |
| Specc1 |
T |
A |
11: 62,110,157 (GRCm39) |
V1054E |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,696,219 (GRCm39) |
T847A |
probably benign |
Het |
| Tcf7l2 |
G |
A |
19: 55,907,468 (GRCm39) |
G343R |
probably damaging |
Het |
| Tex36 |
A |
C |
7: 133,189,111 (GRCm39) |
Y154D |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,576,580 (GRCm39) |
M57K |
probably null |
Het |
| Trav6-4 |
T |
C |
14: 53,692,156 (GRCm39) |
Y85H |
probably damaging |
Het |
| Trim30d |
A |
G |
7: 104,121,765 (GRCm39) |
Y327H |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,781,740 (GRCm39) |
V1056A |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,136 (GRCm39) |
M208K |
probably damaging |
Het |
| Vmn2r25 |
T |
C |
6: 123,799,982 (GRCm39) |
T787A |
possibly damaging |
Het |
| Vps39 |
A |
T |
2: 120,169,814 (GRCm39) |
I246N |
probably benign |
Het |
| Xab2 |
T |
C |
8: 3,660,162 (GRCm39) |
D855G |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,476,993 (GRCm39) |
S369P |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,991,265 (GRCm39) |
C758S |
possibly damaging |
Het |
| Zfp62 |
A |
G |
11: 49,107,099 (GRCm39) |
I397V |
possibly damaging |
Het |
| Zscan4d |
A |
G |
7: 10,896,435 (GRCm39) |
S312P |
probably benign |
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 |
|
|
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'- TGACCTCATCACTACACTATTAAGC -3'
(R):5'- TCAGGATAAACTAACGGGCC -3'
Sequencing Primer
(F):5'- GCAAAGAGCTATGAAATCTACAGG -3'
(R):5'- TCAGGATAAACTAACGGGCCAAAAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation