Incidental Mutation 'IGL00421:Usp31'
| ID |
27732 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp31
|
| Ensembl Gene |
ENSMUSG00000063317 |
| Gene Name |
ubiquitin specific peptidase 31 |
| Synonyms |
6330567E21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
IGL00421
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
121241244-121306476 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121247873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1190
(V1190D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046929]
|
| AlphaFold |
E9Q6Y8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046929
AA Change: V1190D
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040037
Gene: ENSMUSG00000063317
AA Change: V1190D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
120 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
122 |
755 |
2.5e-64 |
PFAM |
|
Pfam:UCH_1
|
562 |
737 |
1.3e-12 |
PFAM |
|
low complexity region
|
763 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
811 |
N/A |
INTRINSIC |
|
low complexity region
|
831 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
869 |
881 |
N/A |
INTRINSIC |
|
low complexity region
|
985 |
996 |
N/A |
INTRINSIC |
|
low complexity region
|
1009 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1044 |
1060 |
N/A |
INTRINSIC |
|
low complexity region
|
1072 |
1127 |
N/A |
INTRINSIC |
|
low complexity region
|
1161 |
1173 |
N/A |
INTRINSIC |
|
low complexity region
|
1192 |
1204 |
N/A |
INTRINSIC |
|
low complexity region
|
1245 |
1258 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
T |
C |
17: 32,536,254 (GRCm39) |
Y53C |
probably damaging |
Het |
| Ampd3 |
C |
T |
7: 110,402,354 (GRCm39) |
R453C |
probably benign |
Het |
| Apob |
A |
C |
12: 8,060,197 (GRCm39) |
D2860A |
probably damaging |
Het |
| Arhgef1 |
C |
A |
7: 24,607,784 (GRCm39) |
R52S |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Cacna1i |
A |
T |
15: 80,266,220 (GRCm39) |
D1569V |
probably damaging |
Het |
| Clic6 |
A |
T |
16: 92,296,196 (GRCm39) |
E285D |
probably damaging |
Het |
| Dok5 |
T |
G |
2: 170,671,876 (GRCm39) |
|
probably null |
Het |
| Gpr89 |
A |
G |
3: 96,805,839 (GRCm39) |
F24S |
probably damaging |
Het |
| Grsf1 |
T |
C |
5: 88,818,137 (GRCm39) |
D84G |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,491,703 (GRCm39) |
K479E |
probably damaging |
Het |
| Mx2 |
A |
T |
16: 97,345,678 (GRCm39) |
N32I |
probably damaging |
Het |
| Myo16 |
G |
T |
8: 10,488,889 (GRCm39) |
V687F |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,456,769 (GRCm39) |
D977G |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,123,374 (GRCm39) |
V97E |
possibly damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,021,177 (GRCm39) |
Y130* |
probably null |
Het |
| Pnpla7 |
T |
A |
2: 24,866,327 (GRCm39) |
|
probably null |
Het |
| Pramel51 |
A |
T |
12: 88,143,882 (GRCm39) |
D310E |
probably benign |
Het |
| Prcc |
A |
T |
3: 87,779,515 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
A |
C |
7: 109,975,039 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
A |
2: 125,585,776 (GRCm39) |
V859F |
probably damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,774,733 (GRCm39) |
Q129K |
possibly damaging |
Het |
| Srrm2 |
G |
A |
17: 24,031,452 (GRCm39) |
S295N |
probably benign |
Het |
| Tacr3 |
A |
C |
3: 134,560,582 (GRCm39) |
I174L |
probably benign |
Het |
| Tchp |
A |
C |
5: 114,846,794 (GRCm39) |
D27A |
probably benign |
Het |
| Zfp462 |
A |
G |
4: 55,023,576 (GRCm39) |
T2122A |
probably benign |
Het |
|
| Other mutations in Usp31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Usp31
|
APN |
7 |
121,305,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00657:Usp31
|
APN |
7 |
121,247,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01917:Usp31
|
APN |
7 |
121,278,708 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02444:Usp31
|
APN |
7 |
121,278,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03090:Usp31
|
APN |
7 |
121,278,753 (GRCm39) |
splice site |
probably benign |
|
|
R0334:Usp31
|
UTSW |
7 |
121,258,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0945:Usp31
|
UTSW |
7 |
121,269,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1326:Usp31
|
UTSW |
7 |
121,247,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Usp31
|
UTSW |
7 |
121,247,919 (GRCm39) |
missense |
probably benign |
0.39 |
|
R3113:Usp31
|
UTSW |
7 |
121,278,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4072:Usp31
|
UTSW |
7 |
121,267,005 (GRCm39) |
splice site |
probably null |
|
|
R4075:Usp31
|
UTSW |
7 |
121,267,005 (GRCm39) |
splice site |
probably null |
|
|
R4076:Usp31
|
UTSW |
7 |
121,267,005 (GRCm39) |
splice site |
probably null |
|
|
R4306:Usp31
|
UTSW |
7 |
121,306,152 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4675:Usp31
|
UTSW |
7 |
121,306,548 (GRCm39) |
unclassified |
probably benign |
|
|
R4960:Usp31
|
UTSW |
7 |
121,247,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5368:Usp31
|
UTSW |
7 |
121,260,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Usp31
|
UTSW |
7 |
121,267,005 (GRCm39) |
splice site |
probably null |
|
|
R5456:Usp31
|
UTSW |
7 |
121,269,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Usp31
|
UTSW |
7 |
121,250,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5497:Usp31
|
UTSW |
7 |
121,250,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Usp31
|
UTSW |
7 |
121,248,698 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6301:Usp31
|
UTSW |
7 |
121,247,499 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6688:Usp31
|
UTSW |
7 |
121,277,553 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6875:Usp31
|
UTSW |
7 |
121,248,863 (GRCm39) |
nonsense |
probably null |
|
|
R6895:Usp31
|
UTSW |
7 |
121,252,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7570:Usp31
|
UTSW |
7 |
121,274,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7633:Usp31
|
UTSW |
7 |
121,258,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7666:Usp31
|
UTSW |
7 |
121,248,404 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7841:Usp31
|
UTSW |
7 |
121,276,535 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7841:Usp31
|
UTSW |
7 |
121,247,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8013:Usp31
|
UTSW |
7 |
121,248,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8014:Usp31
|
UTSW |
7 |
121,248,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8118:Usp31
|
UTSW |
7 |
121,276,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8140:Usp31
|
UTSW |
7 |
121,248,249 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9063:Usp31
|
UTSW |
7 |
121,306,466 (GRCm39) |
missense |
probably benign |
|
|
R9795:Usp31
|
UTSW |
7 |
121,247,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0062:Usp31
|
UTSW |
7 |
121,250,737 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Posted On |
2013-04-17 |
Incidental Mutation