Incidental Mutation 'R1922:Usp32'
| ID |
213166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp32
|
| Ensembl Gene |
ENSMUSG00000000804 |
| Gene Name |
ubiquitin specific peptidase 32 |
| Synonyms |
2900074J03Rik, 6430526O11Rik |
| MMRRC Submission |
039940-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1922 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
84875268-85030987 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 84897830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 1170
(C1170*)
|
| 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 null
Transcript: ENSMUST00000108075
AA Change: C1170*
|
| SMART Domains |
Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
AA Change: C1170*
| 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 |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.1%
- 10x: 95.8%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,359,083 (GRCm39) |
N574K |
probably benign |
Het |
| Adcy9 |
A |
T |
16: 4,129,521 (GRCm39) |
L455H |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Amy1 |
T |
A |
3: 113,358,544 (GRCm39) |
I163F |
probably damaging |
Het |
| Aoc1l2 |
A |
C |
6: 48,908,220 (GRCm39) |
I407L |
probably benign |
Het |
| Armc5 |
A |
G |
7: 127,839,677 (GRCm39) |
S332G |
probably benign |
Het |
| Brd4 |
T |
C |
17: 32,417,060 (GRCm39) |
|
probably benign |
Het |
| Cadps |
T |
C |
14: 12,465,859 (GRCm38) |
K1017R |
possibly damaging |
Het |
| Cfap45 |
A |
G |
1: 172,372,679 (GRCm39) |
E458G |
probably damaging |
Het |
| Chrna1 |
A |
G |
2: 73,398,576 (GRCm39) |
S288P |
probably damaging |
Het |
| Cpe |
T |
A |
8: 65,070,723 (GRCm39) |
D174V |
probably benign |
Het |
| Dclre1c |
T |
C |
2: 3,441,819 (GRCm39) |
F235L |
possibly damaging |
Het |
| Ddx20 |
A |
T |
3: 105,585,900 (GRCm39) |
V815D |
probably damaging |
Het |
| Dhx9 |
T |
C |
1: 153,336,020 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
A |
C |
9: 54,308,807 (GRCm39) |
H1981Q |
probably benign |
Het |
| Doc2a |
A |
C |
7: 126,450,603 (GRCm39) |
D293A |
probably damaging |
Het |
| Eif2a |
C |
T |
3: 58,455,951 (GRCm39) |
R317C |
probably damaging |
Het |
| Fancc |
A |
G |
13: 63,478,381 (GRCm39) |
V318A |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,033,734 (GRCm39) |
Y172* |
probably null |
Het |
| Gipc3 |
T |
A |
10: 81,174,049 (GRCm39) |
I242F |
probably damaging |
Het |
| Glul |
G |
A |
1: 153,783,070 (GRCm39) |
M214I |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,642,797 (GRCm39) |
I823V |
probably benign |
Het |
| Gm6665 |
T |
C |
18: 31,953,318 (GRCm39) |
N50S |
probably benign |
Het |
| Gm6729 |
T |
C |
10: 86,376,782 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr21 |
T |
A |
2: 37,408,350 (GRCm39) |
C299S |
probably damaging |
Het |
| Hapln2 |
T |
A |
3: 87,930,684 (GRCm39) |
N196Y |
probably benign |
Het |
| Hsd17b12 |
A |
G |
2: 93,875,737 (GRCm39) |
V196A |
probably benign |
Het |
| Kalrn |
A |
T |
16: 34,212,463 (GRCm39) |
D28E |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,234,466 (GRCm39) |
L680Q |
probably damaging |
Het |
| Kcna3 |
T |
C |
3: 106,945,251 (GRCm39) |
S505P |
possibly damaging |
Het |
| Klra1 |
A |
C |
6: 130,349,828 (GRCm39) |
N203K |
probably benign |
Het |
| L3mbtl2 |
T |
A |
15: 81,559,822 (GRCm39) |
I236N |
probably damaging |
Het |
| Mcm3ap |
C |
A |
10: 76,343,195 (GRCm39) |
P1696T |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,011,591 (GRCm39) |
D647G |
probably damaging |
Het |
| Mn1 |
A |
G |
5: 111,566,612 (GRCm39) |
D194G |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,347,426 (GRCm39) |
N407S |
probably benign |
Het |
| Mx2 |
C |
T |
16: 97,361,551 (GRCm39) |
R584C |
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,559,055 (GRCm39) |
R597G |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,541,467 (GRCm39) |
D1932G |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,951,585 (GRCm39) |
D205E |
probably benign |
Het |
| Obi1 |
T |
C |
14: 104,716,622 (GRCm39) |
K584E |
probably benign |
Het |
| Or7a37 |
T |
A |
10: 78,805,975 (GRCm39) |
L164* |
probably null |
Het |
| Or8b38 |
T |
C |
9: 37,972,981 (GRCm39) |
Y122H |
probably damaging |
Het |
| Osmr |
T |
C |
15: 6,873,848 (GRCm39) |
E183G |
possibly damaging |
Het |
| Peak1 |
A |
T |
9: 56,113,971 (GRCm39) |
W627R |
probably damaging |
Het |
| Pkd1 |
C |
A |
17: 24,814,131 (GRCm39) |
P4167Q |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,105,017 (GRCm39) |
L560Q |
probably damaging |
Het |
| Prg4 |
C |
T |
1: 150,325,750 (GRCm39) |
W1217* |
probably null |
Het |
| Prkdc |
A |
G |
16: 15,532,130 (GRCm39) |
I1465V |
probably benign |
Het |
| Pus1 |
A |
G |
5: 110,925,505 (GRCm39) |
F105S |
probably damaging |
Het |
| Ranbp3l |
T |
C |
15: 9,057,206 (GRCm39) |
S154P |
probably damaging |
Het |
| Rhbdl1 |
C |
T |
17: 26,054,513 (GRCm39) |
G211S |
probably damaging |
Het |
| Rrp36 |
C |
T |
17: 46,983,671 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Rtp1 |
T |
A |
16: 23,250,160 (GRCm39) |
I175N |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,603,672 (GRCm39) |
N1127Y |
possibly damaging |
Het |
| Setbp1 |
C |
T |
18: 78,901,577 (GRCm39) |
E697K |
possibly damaging |
Het |
| Slc27a3 |
A |
T |
3: 90,293,624 (GRCm39) |
V587E |
probably benign |
Het |
| Slc38a2 |
A |
G |
15: 96,589,043 (GRCm39) |
F454L |
possibly damaging |
Het |
| Sprn |
A |
T |
7: 139,733,458 (GRCm39) |
|
probably benign |
Het |
| St14 |
A |
G |
9: 31,001,166 (GRCm39) |
V855A |
possibly damaging |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,468,564 (GRCm39) |
E732G |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,879,355 (GRCm39) |
F671S |
possibly damaging |
Het |
| Tor1aip2 |
C |
A |
1: 155,940,540 (GRCm39) |
P282Q |
probably damaging |
Het |
| Ttc7b |
C |
T |
12: 100,381,389 (GRCm39) |
|
probably null |
Het |
| Ttll2 |
A |
T |
17: 7,619,789 (GRCm39) |
F46Y |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,564,494 (GRCm39) |
S28548P |
probably damaging |
Het |
| Tubb5 |
T |
C |
17: 36,146,190 (GRCm39) |
Y340C |
probably benign |
Het |
| Usp54 |
G |
T |
14: 20,610,972 (GRCm39) |
H1281Q |
probably benign |
Het |
| Vgll4 |
C |
T |
6: 114,898,296 (GRCm39) |
G22S |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,831,839 (GRCm39) |
I317F |
probably benign |
Het |
| Zdhhc5 |
A |
T |
2: 84,523,771 (GRCm39) |
F225Y |
probably damaging |
Het |
| Zfp652 |
A |
G |
11: 95,654,851 (GRCm39) |
E418G |
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 |
|
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 |
|
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'- GAATTTGGAGTGGAATGTAACCTG -3'
(R):5'- GGTTATACAGAAAGAGCTCCTGTG -3'
Sequencing Primer
(F):5'- TGCCTGAAAAACAAACTTGTACTCTG -3'
(R):5'- CTGTGACATGACTTAACCCAGGTG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation