Incidental Mutation 'R0945:Usp31'
ID |
82060 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp31
|
Ensembl Gene |
ENSMUSG00000063317 |
Gene Name |
ubiquitin specific peptidase 31 |
Synonyms |
6330567E21Rik |
MMRRC Submission |
039084-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R0945 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
121241244-121306476 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121269476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 489
(E489G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040037
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046929]
|
AlphaFold |
E9Q6Y8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046929
AA Change: E489G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040037 Gene: ENSMUSG00000063317 AA Change: E489G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205473
|
Meta Mutation Damage Score |
0.2692 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.1%
- 20x: 96.8%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
A |
G |
16: 35,110,481 (GRCm39) |
M883V |
probably benign |
Het |
Allc |
A |
G |
12: 28,609,962 (GRCm39) |
S212P |
probably benign |
Het |
Anxa10 |
A |
G |
8: 62,513,279 (GRCm39) |
|
probably benign |
Het |
Apoa2 |
A |
G |
1: 171,053,268 (GRCm39) |
|
probably null |
Het |
Arfgef2 |
T |
C |
2: 166,668,889 (GRCm39) |
|
probably benign |
Het |
Arhgap30 |
G |
T |
1: 171,230,854 (GRCm39) |
V204L |
probably damaging |
Het |
Cd109 |
T |
A |
9: 78,596,223 (GRCm39) |
V852E |
possibly damaging |
Het |
Ceacam5 |
T |
A |
7: 17,481,269 (GRCm39) |
Y339N |
probably damaging |
Het |
Chaf1a |
A |
G |
17: 56,374,441 (GRCm39) |
D876G |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,659,630 (GRCm39) |
K197E |
possibly damaging |
Het |
Cnr2 |
A |
T |
4: 135,644,632 (GRCm39) |
M237L |
probably benign |
Het |
Dnm2 |
C |
A |
9: 21,416,956 (GRCm39) |
Q830K |
probably damaging |
Het |
Dst |
T |
C |
1: 34,310,500 (GRCm39) |
L1615P |
probably damaging |
Het |
Eid1 |
A |
G |
2: 125,515,497 (GRCm39) |
D129G |
probably damaging |
Het |
Exoc5 |
A |
G |
14: 49,276,799 (GRCm39) |
|
probably benign |
Het |
Greb1 |
T |
C |
12: 16,723,803 (GRCm39) |
Y1854C |
probably benign |
Het |
Il15ra |
T |
A |
2: 11,723,138 (GRCm39) |
V54E |
probably damaging |
Het |
Il4i1 |
G |
A |
7: 44,489,128 (GRCm39) |
V306M |
probably damaging |
Het |
Lrsam1 |
T |
C |
2: 32,837,921 (GRCm39) |
D211G |
probably benign |
Het |
Miga1 |
A |
T |
3: 152,023,300 (GRCm39) |
F250L |
possibly damaging |
Het |
Myrfl |
C |
T |
10: 116,639,299 (GRCm39) |
|
probably benign |
Het |
Nell1 |
A |
G |
7: 49,869,333 (GRCm39) |
I203V |
probably benign |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Or14j9 |
G |
A |
17: 37,874,278 (GRCm39) |
T308I |
probably benign |
Het |
Or4a15 |
T |
C |
2: 89,193,599 (GRCm39) |
Y58C |
probably damaging |
Het |
Or52u1 |
T |
A |
7: 104,237,879 (GRCm39) |
N289K |
probably damaging |
Het |
Pdxdc1 |
A |
G |
16: 13,675,296 (GRCm39) |
L345P |
probably damaging |
Het |
Pex3 |
C |
A |
10: 13,418,420 (GRCm39) |
A79S |
probably benign |
Het |
Pla2r1 |
A |
C |
2: 60,288,754 (GRCm39) |
L626R |
possibly damaging |
Het |
Plcb3 |
A |
G |
19: 6,932,246 (GRCm39) |
S1107P |
probably damaging |
Het |
Ppcdc |
C |
T |
9: 57,327,441 (GRCm39) |
|
probably null |
Het |
Rbak |
A |
T |
5: 143,159,334 (GRCm39) |
F573Y |
probably damaging |
Het |
Rfc1 |
A |
G |
5: 65,436,052 (GRCm39) |
|
probably null |
Het |
Rpl13 |
C |
T |
8: 123,831,913 (GRCm39) |
A203V |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,913,668 (GRCm39) |
H1020R |
possibly damaging |
Het |
Slf1 |
A |
G |
13: 77,251,590 (GRCm39) |
|
probably benign |
Het |
Synj1 |
A |
G |
16: 90,757,333 (GRCm39) |
L905S |
possibly damaging |
Het |
Tmem59 |
T |
A |
4: 107,044,922 (GRCm39) |
|
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Uri1 |
A |
T |
7: 37,669,103 (GRCm39) |
D127E |
probably damaging |
Het |
Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
Zfp941 |
C |
T |
7: 140,391,577 (GRCm39) |
R594H |
probably damaging |
Het |
Zfy1 |
T |
C |
Y: 725,983 (GRCm39) |
D594G |
probably damaging |
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 |
IGL00421:Usp31
|
APN |
7 |
121,247,873 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTACAGTGGCAACTCCTTTCAGAAAC -3'
(R):5'- TGCTCCACAGAAGCCATTTGTTACC -3'
Sequencing Primer
(F):5'- AGTTTCACTGCACTAACCGC -3'
(R):5'- TTGTTACCTAAGAGTCCTGAGC -3'
|
Posted On |
2013-11-08 |