Incidental Mutation 'R6895:Usp31'
| ID |
538284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp31
|
| Ensembl Gene |
ENSMUSG00000063317 |
| Gene Name |
ubiquitin specific peptidase 31 |
| Synonyms |
6330567E21Rik |
| MMRRC Submission |
044989-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R6895 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
121241244-121306476 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 121252399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 747
(T747K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046929]
|
| AlphaFold |
E9Q6Y8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046929
AA Change: T747K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040037
Gene: ENSMUSG00000063317
AA Change: T747K
| 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 |
|
| Meta Mutation Damage Score |
0.0860 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
A |
G |
18: 12,394,046 (GRCm39) |
V256A |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,110,076 (GRCm39) |
D139G |
probably benign |
Het |
| AU040320 |
T |
C |
4: 126,685,723 (GRCm39) |
W100R |
probably damaging |
Het |
| C4bp |
T |
C |
1: 130,563,943 (GRCm39) |
*470W |
probably null |
Het |
| Capn8 |
C |
A |
1: 182,456,234 (GRCm39) |
D661E |
possibly damaging |
Het |
| Car14 |
T |
C |
3: 95,805,472 (GRCm39) |
T334A |
probably benign |
Het |
| Cfhr4 |
G |
A |
1: 139,668,210 (GRCm39) |
P308S |
possibly damaging |
Het |
| Chd6 |
T |
A |
2: 160,830,260 (GRCm39) |
T1012S |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,529,910 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
A |
G |
12: 69,244,437 (GRCm39) |
V208A |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,958,926 (GRCm39) |
W2986R |
probably damaging |
Het |
| Epb42 |
G |
A |
2: 120,867,104 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
A |
G |
13: 49,045,497 (GRCm39) |
F780L |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Grid2 |
T |
C |
6: 64,372,283 (GRCm39) |
F655S |
probably damaging |
Het |
| Homer3 |
T |
C |
8: 70,737,955 (GRCm39) |
S2P |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,038,883 (GRCm39) |
V207A |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,445,557 (GRCm39) |
|
probably null |
Het |
| Jak1 |
C |
T |
4: 101,011,734 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
A |
G |
10: 67,052,869 (GRCm39) |
I220V |
probably benign |
Het |
| Kat6a |
T |
G |
8: 23,425,799 (GRCm39) |
S1115A |
possibly damaging |
Het |
| Larp4 |
T |
G |
15: 99,905,611 (GRCm39) |
|
probably null |
Het |
| Lrrc72 |
T |
G |
12: 36,259,717 (GRCm39) |
D43A |
probably damaging |
Het |
| Mptx2 |
A |
C |
1: 173,105,252 (GRCm39) |
V13G |
probably benign |
Het |
| Nmbr |
A |
T |
10: 14,645,704 (GRCm39) |
*258Y |
probably null |
Het |
| Nup210l |
C |
T |
3: 90,067,231 (GRCm39) |
A757V |
probably damaging |
Het |
| Nup62 |
A |
G |
7: 44,479,157 (GRCm39) |
K391E |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 94,970,314 (GRCm39) |
I71K |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,323 (GRCm39) |
C177S |
probably damaging |
Het |
| Or8b51 |
A |
C |
9: 38,569,385 (GRCm39) |
L101R |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,254,346 (GRCm39) |
M547T |
possibly damaging |
Het |
| Ropn1 |
A |
T |
16: 34,497,668 (GRCm39) |
I187F |
possibly damaging |
Het |
| Rtp3 |
T |
C |
9: 110,816,264 (GRCm39) |
R96G |
possibly damaging |
Het |
| Sfrp5 |
A |
T |
19: 42,188,227 (GRCm39) |
S197R |
probably damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,185,440 (GRCm39) |
H903R |
probably damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,513,523 (GRCm39) |
A482S |
probably damaging |
Het |
| Slc2a12 |
G |
T |
10: 22,568,084 (GRCm39) |
A504S |
probably damaging |
Het |
| Slitrk5 |
C |
A |
14: 111,919,085 (GRCm39) |
P903Q |
probably damaging |
Het |
| Tas2r123 |
A |
T |
6: 132,824,133 (GRCm39) |
H10L |
probably benign |
Het |
| Tex46 |
T |
C |
4: 136,340,212 (GRCm39) |
V99A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,413,604 (GRCm38) |
V1024A |
probably benign |
Het |
| Ugt2b36 |
G |
A |
5: 87,240,157 (GRCm39) |
T76I |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly 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 |
|
|
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 |
|
|
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'- AGTCCACCCAAACTTCCTTG -3'
(R):5'- ATCCTGCCTGGGTATAAGTTG -3'
Sequencing Primer
(F):5'- CCTTGACTGAAATTATATCAGAGCCC -3'
(R):5'- CCTGCCTGGGTATAAGTTGAAATTTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation