Incidental Mutation 'R6695:Usp54'
| ID |
528551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp54
|
| Ensembl Gene |
ENSMUSG00000034235 |
| Gene Name |
ubiquitin specific peptidase 54 |
| Synonyms |
4930429G18Rik, C030002J06Rik |
| MMRRC Submission |
044813-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6695 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20598980-20691131 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 20610937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 1293
(A1293D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022356]
[ENSMUST00000035340]
|
| AlphaFold |
Q8BL06 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022356
AA Change: A1293D
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: A1293D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
30 |
349 |
2.4e-23 |
PFAM |
|
Pfam:UCH_1
|
31 |
324 |
2.1e-7 |
PFAM |
|
low complexity region
|
403 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
601 |
616 |
N/A |
INTRINSIC |
|
coiled coil region
|
682 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
826 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
894 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1020 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035340
AA Change: A1293D
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: A1293D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
31 |
349 |
2.3e-21 |
PFAM |
|
low complexity region
|
403 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
601 |
616 |
N/A |
INTRINSIC |
|
coiled coil region
|
682 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
826 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
894 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1020 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124940
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141265
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223899
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224755
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd9 |
A |
T |
12: 110,943,497 (GRCm39) |
L179H |
probably benign |
Het |
| Cacna1h |
C |
A |
17: 25,612,714 (GRCm39) |
A370S |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,876,019 (GRCm39) |
I1053F |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,721,230 (GRCm39) |
V1467A |
probably damaging |
Het |
| Cyp4f15 |
T |
A |
17: 32,911,586 (GRCm39) |
L156* |
probably null |
Het |
| Dmwd |
T |
A |
7: 18,814,652 (GRCm39) |
L434Q |
probably damaging |
Het |
| Dtx4 |
T |
A |
19: 12,450,599 (GRCm39) |
R538* |
probably null |
Het |
| Fcgbp |
T |
A |
7: 27,785,695 (GRCm39) |
C377* |
probably null |
Het |
| Galntl6 |
G |
T |
8: 58,880,804 (GRCm39) |
H116Q |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,391,148 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
G |
8: 111,053,092 (GRCm39) |
S255A |
probably benign |
Het |
| Knstrn |
G |
A |
2: 118,644,723 (GRCm39) |
A48T |
probably damaging |
Het |
| Lonrf2 |
T |
C |
1: 38,852,470 (GRCm39) |
D127G |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,272,609 (GRCm39) |
S12P |
possibly damaging |
Het |
| Man2c1 |
A |
T |
9: 57,048,875 (GRCm39) |
H822L |
probably benign |
Het |
| Map3k13 |
G |
T |
16: 21,741,028 (GRCm39) |
G785V |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,219,366 (GRCm39) |
H454R |
probably damaging |
Het |
| Mib2 |
G |
A |
4: 155,745,629 (GRCm39) |
R61C |
probably damaging |
Het |
| Muc15 |
A |
T |
2: 110,561,616 (GRCm39) |
L17F |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,114,652 (GRCm39) |
I879V |
probably benign |
Het |
| Nomo1 |
T |
A |
7: 45,715,885 (GRCm39) |
S751T |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,267,117 (GRCm39) |
S110C |
probably benign |
Het |
| Or5b24 |
A |
T |
19: 12,912,764 (GRCm39) |
I221L |
possibly damaging |
Het |
| Or5g27 |
A |
G |
2: 85,409,793 (GRCm39) |
D70G |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,256 (GRCm39) |
N412S |
probably benign |
Het |
| Plk5 |
T |
C |
10: 80,196,035 (GRCm39) |
S235P |
probably benign |
Het |
| Ppm1j |
A |
G |
3: 104,692,802 (GRCm39) |
D437G |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,633,262 (GRCm39) |
E1148G |
probably damaging |
Het |
| Rad9b |
T |
C |
5: 122,489,754 (GRCm39) |
N43S |
probably damaging |
Het |
| Rc3h2 |
A |
C |
2: 37,304,673 (GRCm39) |
I29S |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Spdl1 |
T |
A |
11: 34,713,830 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
T |
1: 174,071,608 (GRCm39) |
|
probably null |
Het |
| Stk32c |
A |
T |
7: 138,702,880 (GRCm39) |
V53E |
probably damaging |
Het |
| Strc |
A |
T |
2: 121,207,705 (GRCm39) |
F555L |
probably benign |
Het |
| Sugct |
T |
G |
13: 17,497,815 (GRCm39) |
N286T |
possibly damaging |
Het |
| Swsap1 |
A |
T |
9: 21,867,971 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
T |
A |
17: 14,894,426 (GRCm39) |
D807V |
possibly damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,763,974 (GRCm39) |
D492G |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,514,018 (GRCm39) |
S1184T |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,022,436 (GRCm39) |
Y945N |
probably benign |
Het |
| Vps52 |
A |
T |
17: 34,182,173 (GRCm39) |
K516* |
probably null |
Het |
| Zbtb17 |
T |
A |
4: 141,189,110 (GRCm39) |
V10D |
probably damaging |
Het |
| Zfp607b |
T |
C |
7: 27,403,464 (GRCm39) |
V640A |
probably benign |
Het |
|
| Other mutations in Usp54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Usp54
|
APN |
14 |
20,623,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01090:Usp54
|
APN |
14 |
20,636,225 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02030:Usp54
|
APN |
14 |
20,616,014 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02333:Usp54
|
APN |
14 |
20,639,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02642:Usp54
|
APN |
14 |
20,615,140 (GRCm39) |
splice site |
probably benign |
|
|
IGL02970:Usp54
|
APN |
14 |
20,627,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03371:Usp54
|
APN |
14 |
20,639,436 (GRCm39) |
unclassified |
probably benign |
|
|
BB003:Usp54
|
UTSW |
14 |
20,627,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB013:Usp54
|
UTSW |
14 |
20,627,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0050:Usp54
|
UTSW |
14 |
20,623,823 (GRCm39) |
unclassified |
probably benign |
|
|
R0383:Usp54
|
UTSW |
14 |
20,611,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0427:Usp54
|
UTSW |
14 |
20,620,432 (GRCm39) |
missense |
probably benign |
|
|
R0442:Usp54
|
UTSW |
14 |
20,657,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0574:Usp54
|
UTSW |
14 |
20,606,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0638:Usp54
|
UTSW |
14 |
20,639,437 (GRCm39) |
unclassified |
probably benign |
|
|
R0789:Usp54
|
UTSW |
14 |
20,612,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1272:Usp54
|
UTSW |
14 |
20,611,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1463:Usp54
|
UTSW |
14 |
20,600,258 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1565:Usp54
|
UTSW |
14 |
20,657,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1721:Usp54
|
UTSW |
14 |
20,633,508 (GRCm39) |
nonsense |
probably null |
|
|
R1922:Usp54
|
UTSW |
14 |
20,610,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2068:Usp54
|
UTSW |
14 |
20,627,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2216:Usp54
|
UTSW |
14 |
20,611,908 (GRCm39) |
missense |
probably benign |
|
|
R2285:Usp54
|
UTSW |
14 |
20,611,246 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2426:Usp54
|
UTSW |
14 |
20,615,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3855:Usp54
|
UTSW |
14 |
20,638,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3856:Usp54
|
UTSW |
14 |
20,638,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Usp54
|
UTSW |
14 |
20,636,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4367:Usp54
|
UTSW |
14 |
20,611,202 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4384:Usp54
|
UTSW |
14 |
20,600,153 (GRCm39) |
splice site |
probably null |
|
|
R4555:Usp54
|
UTSW |
14 |
20,611,090 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4617:Usp54
|
UTSW |
14 |
20,600,406 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4659:Usp54
|
UTSW |
14 |
20,615,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Usp54
|
UTSW |
14 |
20,631,597 (GRCm39) |
intron |
probably benign |
|
|
R4928:Usp54
|
UTSW |
14 |
20,612,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5381:Usp54
|
UTSW |
14 |
20,636,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Usp54
|
UTSW |
14 |
20,600,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5630:Usp54
|
UTSW |
14 |
20,615,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5841:Usp54
|
UTSW |
14 |
20,600,351 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5886:Usp54
|
UTSW |
14 |
20,611,910 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5922:Usp54
|
UTSW |
14 |
20,602,139 (GRCm39) |
splice site |
probably null |
|
|
R5975:Usp54
|
UTSW |
14 |
20,633,419 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6074:Usp54
|
UTSW |
14 |
20,602,167 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6183:Usp54
|
UTSW |
14 |
20,602,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6234:Usp54
|
UTSW |
14 |
20,633,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6303:Usp54
|
UTSW |
14 |
20,611,036 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6304:Usp54
|
UTSW |
14 |
20,611,036 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6774:Usp54
|
UTSW |
14 |
20,627,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6941:Usp54
|
UTSW |
14 |
20,612,177 (GRCm39) |
missense |
probably benign |
|
|
R7133:Usp54
|
UTSW |
14 |
20,611,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7196:Usp54
|
UTSW |
14 |
20,638,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7409:Usp54
|
UTSW |
14 |
20,602,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7424:Usp54
|
UTSW |
14 |
20,627,108 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7859:Usp54
|
UTSW |
14 |
20,638,204 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7926:Usp54
|
UTSW |
14 |
20,627,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7954:Usp54
|
UTSW |
14 |
20,611,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8489:Usp54
|
UTSW |
14 |
20,611,604 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8745:Usp54
|
UTSW |
14 |
20,612,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8775:Usp54
|
UTSW |
14 |
20,638,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8775-TAIL:Usp54
|
UTSW |
14 |
20,638,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9080:Usp54
|
UTSW |
14 |
20,612,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9121:Usp54
|
UTSW |
14 |
20,631,523 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9139:Usp54
|
UTSW |
14 |
20,627,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9433:Usp54
|
UTSW |
14 |
20,611,678 (GRCm39) |
missense |
probably benign |
|
|
R9613:Usp54
|
UTSW |
14 |
20,600,438 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF004:Usp54
|
UTSW |
14 |
20,611,368 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0024:Usp54
|
UTSW |
14 |
20,627,319 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGTCCTGAAGGCTCTATGAG -3'
(R):5'- CAAGGCTCTGTGATTCTCAGG -3'
Sequencing Primer
(F):5'- GGAAAGCTAAAGGTCTCATTGCCTC -3'
(R):5'- GTGATTCTCAGGTTAAACCCAGTGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation