Incidental Mutation 'R7859:Usp54'
ID |
607383 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp54
|
Ensembl Gene |
ENSMUSG00000034235 |
Gene Name |
ubiquitin specific peptidase 54 |
Synonyms |
4930429G18Rik, C030002J06Rik |
MMRRC Submission |
045912-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7859 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
20598980-20691131 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20638204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 255
(E255G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022356
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022356]
[ENSMUST00000035340]
|
AlphaFold |
Q8BL06 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022356
AA Change: E255G
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000022356 Gene: ENSMUSG00000034235 AA Change: E255G
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 |
probably benign
Transcript: ENSMUST00000035340
AA Change: E255G
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000036214 Gene: ENSMUSG00000034235 AA Change: E255G
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 |
probably benign
Transcript: ENSMUST00000123287
|
SMART Domains |
Protein: ENSMUSP00000117503 Gene: ENSMUSG00000034235
Domain | Start | End | E-Value | Type |
low complexity region
|
82 |
95 |
N/A |
INTRINSIC |
low complexity region
|
156 |
165 |
N/A |
INTRINSIC |
low complexity region
|
192 |
198 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,603,500 (GRCm39) |
L564P |
probably damaging |
Het |
Arsb |
T |
A |
13: 93,998,615 (GRCm39) |
S308T |
probably benign |
Het |
Atxn10 |
A |
G |
15: 85,346,526 (GRCm39) |
D428G |
probably benign |
Het |
BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
Cd300a |
T |
C |
11: 114,784,165 (GRCm39) |
Y58H |
probably benign |
Het |
Cemip2 |
T |
A |
19: 21,809,539 (GRCm39) |
I973N |
possibly damaging |
Het |
Crkl |
T |
A |
16: 17,286,960 (GRCm39) |
M172K |
probably damaging |
Het |
Cyfip1 |
T |
C |
7: 55,549,774 (GRCm39) |
I647T |
probably damaging |
Het |
Dlgap1 |
A |
G |
17: 70,823,683 (GRCm39) |
T223A |
probably benign |
Het |
Dmtf1 |
T |
C |
5: 9,178,044 (GRCm39) |
S372G |
probably damaging |
Het |
Dock8 |
G |
A |
19: 25,160,934 (GRCm39) |
V1814M |
probably damaging |
Het |
Dusp22 |
A |
C |
13: 30,892,737 (GRCm39) |
K171N |
probably benign |
Het |
Evi2a |
T |
C |
11: 79,418,452 (GRCm39) |
S53G |
probably benign |
Het |
Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
Kndc1 |
A |
T |
7: 139,500,880 (GRCm39) |
D723V |
possibly damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Mcur1 |
G |
A |
13: 43,713,485 (GRCm39) |
R40* |
probably null |
Het |
Mgam |
T |
A |
6: 40,717,113 (GRCm39) |
N265K |
possibly damaging |
Het |
Muc6 |
G |
A |
7: 141,231,687 (GRCm39) |
T1069I |
probably damaging |
Het |
Myh2 |
T |
C |
11: 67,077,526 (GRCm39) |
L887P |
probably damaging |
Het |
Myo1d |
T |
G |
11: 80,575,203 (GRCm39) |
D171A |
probably damaging |
Het |
Nat2 |
T |
A |
8: 67,954,002 (GRCm39) |
F37L |
probably damaging |
Het |
Nkx2-2 |
A |
G |
2: 147,019,730 (GRCm39) |
C236R |
unknown |
Het |
Nrl |
G |
A |
14: 55,759,582 (GRCm39) |
S115L |
probably benign |
Het |
Nrsn1 |
A |
C |
13: 25,446,254 (GRCm39) |
S41A |
probably damaging |
Het |
Or5b12 |
T |
A |
19: 12,897,346 (GRCm39) |
E109V |
probably damaging |
Het |
Pax8 |
T |
A |
2: 24,311,567 (GRCm39) |
H456L |
possibly damaging |
Het |
Pkd1 |
T |
A |
17: 24,790,254 (GRCm39) |
I979K |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,150,274 (GRCm39) |
N149D |
probably damaging |
Het |
Psg28 |
A |
T |
7: 18,160,149 (GRCm39) |
V349D |
probably damaging |
Het |
Ptpro |
G |
A |
6: 137,369,805 (GRCm39) |
|
probably null |
Het |
Sema4d |
T |
A |
13: 51,876,387 (GRCm39) |
K94N |
probably benign |
Het |
Slc22a22 |
A |
T |
15: 57,114,348 (GRCm39) |
D326E |
probably benign |
Het |
Slc25a29 |
G |
A |
12: 108,792,756 (GRCm39) |
T274I |
probably benign |
Het |
Slc43a1 |
T |
C |
2: 84,687,220 (GRCm39) |
F374L |
possibly damaging |
Het |
Syne1 |
G |
T |
10: 5,107,683 (GRCm39) |
Q520K |
possibly damaging |
Het |
Taar4 |
T |
C |
10: 23,837,032 (GRCm39) |
V214A |
probably benign |
Het |
Tex22 |
T |
A |
12: 113,052,103 (GRCm39) |
C54S |
possibly damaging |
Het |
Tpo |
T |
A |
12: 30,150,573 (GRCm39) |
I436F |
probably damaging |
Het |
Usp53 |
T |
C |
3: 122,743,415 (GRCm39) |
H507R |
possibly damaging |
Het |
Vmn2r109 |
G |
T |
17: 20,761,436 (GRCm39) |
F640L |
probably damaging |
Het |
Vmn2r124 |
A |
G |
17: 18,282,212 (GRCm39) |
Y80C |
probably damaging |
Het |
Vmn2r27 |
A |
T |
6: 124,201,201 (GRCm39) |
I252K |
probably benign |
Het |
Zfp457 |
A |
G |
13: 67,454,445 (GRCm39) |
|
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 |
R6695:Usp54
|
UTSW |
14 |
20,610,937 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
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'- GGCTCATGAACTTGCACAC -3'
(R):5'- CTTCAGAATGCCAGCACCATG -3'
Sequencing Primer
(F):5'- GCTCATGAACTTGCACACAGAAAC -3'
(R):5'- AACTGTCCGGTGAGTTAATGC -3'
|
Posted On |
2019-12-20 |