Incidental Mutation 'R7182:Usp32'
ID |
559061 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp32
|
Ensembl Gene |
ENSMUSG00000000804 |
Gene Name |
ubiquitin specific peptidase 32 |
Synonyms |
2900074J03Rik, 6430526O11Rik |
MMRRC Submission |
045234-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7182 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
84875268-85030987 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 84930996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 478
(G478D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108075]
[ENSMUST00000172515]
|
AlphaFold |
F8VPZ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108075
AA Change: G478D
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103710 Gene: ENSMUSG00000000804 AA Change: G478D
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 |
probably benign
Transcript: ENSMUST00000174602
|
SMART Domains |
Protein: ENSMUSP00000134476 Gene: ENSMUSG00000000804
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 |
|
Meta Mutation Damage Score |
0.0602 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
96% (70/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
C |
16: 4,667,578 (GRCm39) |
V323A |
unknown |
Het |
AC117241.1 |
A |
G |
17: 7,620,087 (GRCm39) |
V158A |
unknown |
Het |
Acadm |
A |
G |
3: 153,647,518 (GRCm39) |
|
probably null |
Het |
Adcy10 |
T |
G |
1: 165,371,039 (GRCm39) |
|
probably null |
Het |
Aldh6a1 |
C |
T |
12: 84,488,605 (GRCm39) |
A94T |
probably benign |
Het |
Ano2 |
T |
A |
6: 125,767,256 (GRCm39) |
L229Q |
probably damaging |
Het |
Cacna1h |
C |
T |
17: 25,596,629 (GRCm39) |
R1828H |
probably damaging |
Het |
Ccdc33 |
A |
T |
9: 57,941,456 (GRCm39) |
|
probably null |
Het |
Cep112 |
A |
C |
11: 108,573,670 (GRCm39) |
D6A |
probably benign |
Het |
Chd9 |
T |
C |
8: 91,733,250 (GRCm39) |
F1373S |
unknown |
Het |
Cog5 |
T |
C |
12: 31,735,707 (GRCm39) |
L158P |
probably damaging |
Het |
Col6a3 |
G |
A |
1: 90,731,400 (GRCm39) |
Q1618* |
probably null |
Het |
Dlg5 |
A |
G |
14: 24,294,924 (GRCm39) |
V3A |
|
Het |
Dnah7a |
T |
A |
1: 53,659,620 (GRCm39) |
|
probably null |
Het |
Dpp10 |
A |
T |
1: 123,268,880 (GRCm39) |
H716Q |
probably benign |
Het |
Epor |
A |
G |
9: 21,874,625 (GRCm39) |
F35L |
probably benign |
Het |
Ergic1 |
A |
T |
17: 26,873,856 (GRCm39) |
Y92F |
|
Het |
Fam98a |
G |
A |
17: 75,846,013 (GRCm39) |
Q273* |
probably null |
Het |
Fhdc1 |
G |
A |
3: 84,356,157 (GRCm39) |
T429I |
probably damaging |
Het |
Fmnl2 |
T |
A |
2: 52,997,453 (GRCm39) |
L468Q |
unknown |
Het |
Fmnl3 |
C |
T |
15: 99,219,663 (GRCm39) |
R695Q |
probably damaging |
Het |
Gabrg2 |
T |
C |
11: 41,811,333 (GRCm39) |
M271V |
probably damaging |
Het |
Garin4 |
C |
T |
1: 190,895,548 (GRCm39) |
R365H |
probably damaging |
Het |
Gk5 |
G |
T |
9: 96,001,579 (GRCm39) |
V26L |
possibly damaging |
Het |
Gm14412 |
A |
C |
2: 177,007,408 (GRCm39) |
N162K |
probably benign |
Het |
Gm3604 |
T |
C |
13: 62,519,689 (GRCm39) |
D22G |
probably damaging |
Het |
Gm5565 |
G |
T |
5: 146,094,865 (GRCm39) |
H294N |
probably benign |
Het |
Hsf2 |
T |
A |
10: 57,381,272 (GRCm39) |
D287E |
possibly damaging |
Het |
Ift70b |
A |
T |
2: 75,768,293 (GRCm39) |
Y153* |
probably null |
Het |
Impdh2 |
G |
A |
9: 108,440,407 (GRCm39) |
R231H |
possibly damaging |
Het |
Irak3 |
T |
C |
10: 120,002,416 (GRCm39) |
H234R |
probably damaging |
Het |
Lrba |
GTTCCCTTC |
GTTC |
3: 86,648,765 (GRCm39) |
|
probably null |
Het |
Lrch3 |
T |
A |
16: 32,814,149 (GRCm39) |
D551E |
probably benign |
Het |
Manba |
A |
T |
3: 135,273,274 (GRCm39) |
N736I |
probably benign |
Het |
Map2 |
A |
G |
1: 66,451,812 (GRCm39) |
D234G |
possibly damaging |
Het |
Mdk |
C |
A |
2: 91,761,197 (GRCm39) |
K121N |
unknown |
Het |
Mfn1 |
T |
A |
3: 32,618,369 (GRCm39) |
L526Q |
probably damaging |
Het |
Mfsd2b |
A |
G |
12: 4,916,157 (GRCm39) |
|
probably null |
Het |
Mnat1 |
G |
T |
12: 73,277,452 (GRCm39) |
E233* |
probably null |
Het |
Mtmr4 |
T |
C |
11: 87,495,431 (GRCm39) |
|
probably null |
Het |
Mtrf1 |
A |
G |
14: 79,660,904 (GRCm39) |
E432G |
possibly damaging |
Het |
Muc5b |
C |
T |
7: 141,396,382 (GRCm39) |
R165C |
unknown |
Het |
Naip6 |
T |
A |
13: 100,452,657 (GRCm39) |
I135F |
probably benign |
Het |
Nod2 |
A |
G |
8: 89,390,460 (GRCm39) |
T256A |
probably benign |
Het |
Notch4 |
T |
A |
17: 34,802,473 (GRCm39) |
V1298E |
probably damaging |
Het |
Nudc |
G |
T |
4: 133,261,776 (GRCm39) |
D169E |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,925,927 (GRCm39) |
I5602N |
probably damaging |
Het |
Or5b114-ps1 |
G |
A |
19: 13,353,208 (GRCm39) |
G294E |
unknown |
Het |
Osbpl10 |
G |
A |
9: 114,896,319 (GRCm39) |
D18N |
probably damaging |
Het |
Pigk |
G |
A |
3: 152,428,188 (GRCm39) |
V72I |
possibly damaging |
Het |
Prl8a6 |
C |
T |
13: 27,621,153 (GRCm39) |
E26K |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,381,553 (GRCm39) |
Y318C |
possibly damaging |
Het |
Rab13 |
A |
G |
3: 90,132,070 (GRCm39) |
D159G |
possibly damaging |
Het |
Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,774,643 (GRCm39) |
H1171R |
probably benign |
Het |
Scn4a |
T |
A |
11: 106,221,134 (GRCm39) |
I842F |
probably benign |
Het |
Scnm1 |
A |
T |
3: 95,041,165 (GRCm39) |
N14K |
possibly damaging |
Het |
Serinc1 |
A |
T |
10: 57,400,457 (GRCm39) |
I137N |
probably benign |
Het |
Slc30a3 |
T |
C |
5: 31,244,169 (GRCm39) |
Q371R |
probably benign |
Het |
Slc30a3 |
A |
C |
5: 31,247,014 (GRCm39) |
M103R |
probably damaging |
Het |
Slco1a1 |
A |
T |
6: 141,857,565 (GRCm39) |
C589S |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,602,656 (GRCm39) |
Y203C |
probably damaging |
Het |
Spty2d1 |
A |
T |
7: 46,648,271 (GRCm39) |
D219E |
probably benign |
Het |
Svep1 |
A |
T |
4: 58,043,991 (GRCm39) |
S3552T |
probably benign |
Het |
Tmem62 |
A |
G |
2: 120,835,224 (GRCm39) |
I516M |
probably benign |
Het |
Trim61 |
A |
T |
8: 65,466,266 (GRCm39) |
S332T |
probably damaging |
Het |
Trmt10b |
A |
C |
4: 45,308,520 (GRCm39) |
T227P |
probably benign |
Het |
Trpc3 |
T |
C |
3: 36,709,258 (GRCm39) |
Q406R |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,485,740 (GRCm39) |
Y2950F |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,091,758 (GRCm39) |
L527P |
possibly damaging |
Het |
Wdr73 |
A |
G |
7: 80,543,426 (GRCm39) |
V163A |
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 |
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'- CTACTTGGAAGAGAACAATAGGGTTTG -3'
(R):5'- CTGTCTAGTAAGGAATACATCTGTCC -3'
Sequencing Primer
(F):5'- GGGTTTGATGTTAAACACCTACC -3'
(R):5'- CACAGTGCATTGACATCT -3'
|
Posted On |
2019-06-26 |