Incidental Mutation 'R4076:Usp31'
ID |
316565 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp31
|
Ensembl Gene |
ENSMUSG00000063317 |
Gene Name |
ubiquitin specific peptidase 31 |
Synonyms |
6330567E21Rik |
MMRRC Submission |
040975-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R4076 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
121241244-121306476 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 121267005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040037
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046929]
|
AlphaFold |
E9Q6Y8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046929
|
SMART Domains |
Protein: ENSMUSP00000040037 Gene: ENSMUSG00000063317
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
Anxa5 |
T |
C |
3: 36,504,529 (GRCm39) |
I277V |
probably benign |
Het |
Atg12 |
A |
G |
18: 46,870,491 (GRCm39) |
F92L |
probably benign |
Het |
Cd48 |
T |
A |
1: 171,523,451 (GRCm39) |
V98D |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,975,730 (GRCm39) |
T1440A |
probably benign |
Het |
Dnali1 |
T |
C |
4: 124,953,263 (GRCm39) |
D188G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
Eva1c |
T |
A |
16: 90,701,019 (GRCm39) |
F331Y |
probably damaging |
Het |
Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
Fras1 |
G |
C |
5: 96,891,017 (GRCm39) |
D2849H |
probably damaging |
Het |
Hdc |
C |
T |
2: 126,458,181 (GRCm39) |
R47Q |
possibly damaging |
Het |
Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
Ltb4r2 |
A |
T |
14: 56,000,398 (GRCm39) |
R340W |
probably benign |
Het |
Map10 |
T |
C |
8: 126,398,584 (GRCm39) |
V659A |
probably benign |
Het |
Nars2 |
T |
A |
7: 96,607,301 (GRCm39) |
S91T |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
Osgin1 |
A |
C |
8: 120,171,772 (GRCm39) |
S189R |
possibly damaging |
Het |
Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
Pik3c2g |
A |
T |
6: 139,798,589 (GRCm39) |
N373I |
probably damaging |
Het |
Pou2f2 |
T |
C |
7: 24,796,713 (GRCm39) |
T270A |
probably damaging |
Het |
Rad51b |
T |
G |
12: 79,361,656 (GRCm39) |
S122R |
probably damaging |
Het |
Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
Scg2 |
A |
C |
1: 79,414,574 (GRCm39) |
F50V |
probably damaging |
Het |
Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
Tfb1m |
T |
A |
17: 3,571,945 (GRCm39) |
R257W |
probably damaging |
Het |
Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
Zfp608 |
A |
T |
18: 55,031,180 (GRCm39) |
V920E |
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 |
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 |
|
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'- TGAGCCTTGGACAGAAGTTGG -3'
(R):5'- CTCATTAAAGACTTTCTGATGGGGAAC -3'
Sequencing Primer
(F):5'- GGGGAAAGAATAATAAACTCCTTCAG -3'
(R):5'- CTGATGGGGAACTATAAAGATTTCCC -3'
|
Posted On |
2015-05-15 |