Incidental Mutation 'R9145:Usp32'
ID |
694588 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp32
|
Ensembl Gene |
ENSMUSG00000000804 |
Gene Name |
ubiquitin specific peptidase 32 |
Synonyms |
6430526O11Rik, 2900074J03Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9145 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
84984442-85140161 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 85022292 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 930
(G930D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108075]
|
AlphaFold |
F8VPZ3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000821
AA Change: G228D
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000000821 Gene: ENSMUSG00000000804 AA Change: G228D
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: G930D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103710 Gene: ENSMUSG00000000804 AA Change: G930D
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: 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 |
0.9105  |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (79/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
A |
6: 128,559,069 (GRCm38) |
H720L |
probably benign |
Het |
Abca15 |
T |
C |
7: 120,388,165 (GRCm38) |
Y1225H |
probably benign |
Het |
Adck1 |
C |
A |
12: 88,368,423 (GRCm38) |
N26K |
probably benign |
Het |
Adcy3 |
A |
G |
12: 4,195,208 (GRCm38) |
D382G |
probably damaging |
Het |
Ahi1 |
T |
A |
10: 21,000,589 (GRCm38) |
C800S |
probably benign |
Het |
Ahnak |
G |
T |
19: 9,014,923 (GRCm38) |
V4524L |
probably benign |
Het |
Apol11a |
C |
T |
15: 77,513,578 (GRCm38) |
A43V |
probably benign |
Het |
Arid1a |
T |
C |
4: 133,693,903 (GRCm38) |
M479V |
unknown |
Het |
Atp13a2 |
T |
A |
4: 140,996,745 (GRCm38) |
C324S |
probably damaging |
Het |
C2cd2 |
T |
G |
16: 97,876,286 (GRCm38) |
T413P |
probably damaging |
Het |
Cct5 |
A |
C |
15: 31,590,961 (GRCm38) |
D531E |
|
Het |
Chst1 |
A |
T |
2: 92,614,178 (GRCm38) |
I332F |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,620,062 (GRCm38) |
V2662D |
probably benign |
Het |
Cts3 |
A |
G |
13: 61,564,986 (GRCm38) |
Y307H |
probably benign |
Het |
D630023F18Rik |
G |
A |
1: 65,121,212 (GRCm38) |
|
probably benign |
Het |
Dhx9 |
A |
G |
1: 153,461,080 (GRCm38) |
I807T |
probably damaging |
Het |
Doxl2 |
C |
A |
6: 48,975,956 (GRCm38) |
R272S |
probably benign |
Het |
Exoc3l4 |
T |
C |
12: 111,422,152 (GRCm38) |
L25P |
probably benign |
Het |
Ggcx |
T |
A |
6: 72,425,922 (GRCm38) |
C288S |
probably benign |
Het |
Gjb3 |
A |
G |
4: 127,326,347 (GRCm38) |
Y131H |
probably damaging |
Het |
Hdhd3 |
A |
G |
4: 62,499,337 (GRCm38) |
S201P |
probably benign |
Het |
Helz2 |
A |
T |
2: 181,240,055 (GRCm38) |
V315E |
probably damaging |
Het |
Hsp90aa1 |
A |
G |
12: 110,696,250 (GRCm38) |
|
probably null |
Het |
Il12a |
C |
T |
3: 68,691,542 (GRCm38) |
R19W |
unknown |
Het |
Isoc1 |
C |
T |
18: 58,673,275 (GRCm38) |
A219V |
possibly damaging |
Het |
Jup |
T |
A |
11: 100,378,298 (GRCm38) |
T430S |
probably benign |
Het |
Klra5 |
C |
T |
6: 129,909,948 (GRCm38) |
C39Y |
probably benign |
Het |
Map4 |
A |
T |
9: 110,026,200 (GRCm38) |
Q131L |
probably damaging |
Het |
Mau2 |
T |
A |
8: 70,027,515 (GRCm38) |
K314M |
probably damaging |
Het |
Mga |
A |
G |
2: 119,964,012 (GRCm38) |
M2726V |
probably benign |
Het |
Mgme1 |
G |
A |
2: 144,272,485 (GRCm38) |
|
probably null |
Het |
Msrb2 |
A |
G |
2: 19,394,255 (GRCm38) |
E143G |
probably benign |
Het |
Muc5b |
G |
T |
7: 141,857,613 (GRCm38) |
C1432F |
unknown |
Het |
Naglu |
T |
C |
11: 101,071,114 (GRCm38) |
Y138H |
probably damaging |
Het |
Nicn1 |
C |
T |
9: 108,294,509 (GRCm38) |
R163C |
possibly damaging |
Het |
Nlrp1b |
A |
G |
11: 71,218,367 (GRCm38) |
Y103H |
probably benign |
Het |
Nodal |
A |
G |
10: 61,423,680 (GRCm38) |
N299D |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,459,575 (GRCm38) |
T2518A |
probably benign |
Het |
Nr2e1 |
A |
C |
10: 42,572,952 (GRCm38) |
S97A |
probably benign |
Het |
Nuak1 |
A |
T |
10: 84,374,723 (GRCm38) |
S500R |
probably benign |
Het |
Nxt2 |
C |
T |
X: 142,237,751 (GRCm38) |
A118V |
possibly damaging |
Het |
Nyap1 |
T |
C |
5: 137,737,913 (GRCm38) |
E104G |
probably benign |
Het |
Olfr401 |
C |
T |
11: 74,121,700 (GRCm38) |
T137I |
probably benign |
Het |
Olfr670 |
T |
A |
7: 104,959,997 (GRCm38) |
H245L |
probably damaging |
Het |
Palld |
T |
C |
8: 61,877,073 (GRCm38) |
T257A |
probably benign |
Het |
Pcnx4 |
C |
T |
12: 72,556,269 (GRCm38) |
P435L |
probably damaging |
Het |
Piezo1 |
T |
C |
8: 122,482,014 (GRCm38) |
T2538A |
unknown |
Het |
Plagl1 |
T |
C |
10: 13,128,128 (GRCm38) |
L380P |
unknown |
Het |
Polrmt |
G |
T |
10: 79,740,581 (GRCm38) |
Q514K |
probably benign |
Het |
Psg17 |
T |
G |
7: 18,819,926 (GRCm38) |
D133A |
probably benign |
Het |
Rab3b |
G |
A |
4: 108,940,706 (GRCm38) |
D185N |
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,455,914 (GRCm38) |
S248T |
probably benign |
Het |
Rdh10 |
C |
A |
1: 16,129,206 (GRCm38) |
A212D |
probably damaging |
Het |
Rinl |
A |
G |
7: 28,795,664 (GRCm38) |
H154R |
|
Het |
Selenbp1 |
T |
C |
3: 94,944,103 (GRCm38) |
M389T |
probably benign |
Het |
Serpina1c |
T |
A |
12: 103,896,141 (GRCm38) |
H305L |
possibly damaging |
Het |
Sh3rf2 |
T |
A |
18: 42,149,681 (GRCm38) |
S467T |
|
Het |
Sipa1l1 |
A |
G |
12: 82,396,561 (GRCm38) |
D875G |
probably benign |
Het |
Slc10a6 |
A |
T |
5: 103,628,934 (GRCm38) |
V100D |
probably damaging |
Het |
Slc13a4 |
T |
C |
6: 35,270,355 (GRCm38) |
I577V |
possibly damaging |
Het |
Slc20a2 |
T |
C |
8: 22,540,431 (GRCm38) |
F168L |
probably benign |
Het |
Slc25a1 |
A |
T |
16: 17,927,244 (GRCm38) |
|
probably null |
Het |
Slc5a12 |
A |
G |
2: 110,640,897 (GRCm38) |
S495G |
probably benign |
Het |
Smpdl3a |
A |
G |
10: 57,800,932 (GRCm38) |
D42G |
possibly damaging |
Het |
Spag16 |
G |
C |
1: 70,381,300 (GRCm38) |
L482F |
probably damaging |
Het |
Susd5 |
G |
A |
9: 114,096,221 (GRCm38) |
G391R |
probably damaging |
Het |
Sync |
G |
T |
4: 129,293,825 (GRCm38) |
A217S |
|
Het |
Tha1 |
T |
A |
11: 117,868,686 (GRCm38) |
N326Y |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 65,302,816 (GRCm38) |
F1590Y |
probably benign |
Het |
Tle4 |
T |
C |
19: 14,468,219 (GRCm38) |
N221S |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,536,024 (GRCm38) |
T2054A |
probably damaging |
Het |
Ttc30a1 |
A |
T |
2: 75,980,079 (GRCm38) |
Y553* |
probably null |
Het |
Ttll4 |
A |
G |
1: 74,679,790 (GRCm38) |
K267E |
probably benign |
Het |
Vmn2r75 |
T |
C |
7: 86,164,239 (GRCm38) |
N452D |
probably damaging |
Het |
Vmn2r81 |
T |
C |
10: 79,268,194 (GRCm38) |
L217P |
possibly damaging |
Het |
Wnt2 |
T |
A |
6: 18,030,398 (GRCm38) |
|
probably benign |
Het |
Zfp459 |
C |
T |
13: 67,408,616 (GRCm38) |
S116N |
probably benign |
Het |
Zfp981 |
C |
A |
4: 146,537,953 (GRCm38) |
T445N |
possibly damaging |
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 |
R2010:Usp32
|
UTSW |
11 |
85,040,004 (GRCm38) |
missense |
probably damaging |
0.98 |
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 |
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'- TCTTTTCTGGTAGACAACATTTTCA -3'
(R):5'- GCCAATCAGAAGTCTTTATCAGATAGA -3'
Sequencing Primer
(F):5'- GTACATAGTGAGCCTCTGACTCAAG -3'
(R):5'- GTTTGCTATTTGCAAGTCAG -3'
|
Posted On |
2022-01-20 |