Incidental Mutation 'R7424:Usp54'
ID |
575947 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp54
|
Ensembl Gene |
ENSMUSG00000034235 |
Gene Name |
ubiquitin specific peptidase 54 |
Synonyms |
4930429G18Rik, C030002J06Rik |
MMRRC Submission |
045502-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7424 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
20598980-20691131 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20627108 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 517
(T517A)
|
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: T517A
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000022356 Gene: ENSMUSG00000034235 AA Change: T517A
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: T517A
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000036214 Gene: ENSMUSG00000034235 AA Change: T517A
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 |
|
Meta Mutation Damage Score |
0.0758 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
99% (76/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430548M08Rik |
C |
T |
8: 120,872,284 (GRCm39) |
R71C |
probably damaging |
Het |
Aanat |
A |
T |
11: 116,486,455 (GRCm39) |
|
probably benign |
Het |
Ahrr |
G |
T |
13: 74,405,664 (GRCm39) |
S91* |
probably null |
Het |
Ampd1 |
A |
T |
3: 102,995,758 (GRCm39) |
N223Y |
probably benign |
Het |
Ankar |
T |
G |
1: 72,719,217 (GRCm39) |
N544T |
probably damaging |
Het |
Ankk1 |
A |
G |
9: 49,330,050 (GRCm39) |
S302P |
possibly damaging |
Het |
Bcr |
T |
C |
10: 74,992,932 (GRCm39) |
V809A |
probably benign |
Het |
Bpifb2 |
A |
G |
2: 153,732,460 (GRCm39) |
N353S |
possibly damaging |
Het |
Cyth1 |
A |
T |
11: 118,074,835 (GRCm39) |
|
probably null |
Het |
Ddx5 |
A |
T |
11: 106,673,006 (GRCm39) |
N506K |
probably benign |
Het |
Dnaja1 |
A |
T |
4: 40,730,244 (GRCm39) |
I239F |
probably benign |
Het |
Ethe1 |
C |
T |
7: 24,305,676 (GRCm39) |
T141I |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,831,447 (GRCm39) |
H29R |
probably damaging |
Het |
Gdap2 |
A |
T |
3: 100,109,382 (GRCm39) |
I36F |
unknown |
Het |
Gm13030 |
A |
T |
4: 138,598,577 (GRCm39) |
D115E |
unknown |
Het |
Gm17019 |
A |
T |
5: 15,079,386 (GRCm39) |
L227Q |
probably damaging |
Het |
Gm9195 |
T |
A |
14: 72,673,217 (GRCm39) |
E2517D |
possibly damaging |
Het |
Gramd2a |
T |
A |
9: 59,615,354 (GRCm39) |
V39D |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,506,017 (GRCm39) |
W3836* |
probably null |
Het |
Hspa14 |
C |
T |
2: 3,490,078 (GRCm39) |
D494N |
possibly damaging |
Het |
Ifit2 |
A |
G |
19: 34,550,598 (GRCm39) |
N46S |
probably benign |
Het |
Ifna6 |
A |
T |
4: 88,746,044 (GRCm39) |
E131V |
possibly damaging |
Het |
Ift140 |
T |
C |
17: 25,256,010 (GRCm39) |
V504A |
possibly damaging |
Het |
Irgc |
T |
C |
7: 24,131,653 (GRCm39) |
N388S |
probably damaging |
Het |
Itgal |
T |
A |
7: 126,916,537 (GRCm39) |
V743E |
probably benign |
Het |
Itih5 |
T |
C |
2: 10,250,448 (GRCm39) |
S716P |
probably damaging |
Het |
Kcnab1 |
A |
T |
3: 65,173,924 (GRCm39) |
K78N |
possibly damaging |
Het |
Kif1a |
A |
T |
1: 92,982,039 (GRCm39) |
V787E |
possibly damaging |
Het |
Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
Krt39 |
A |
T |
11: 99,408,917 (GRCm39) |
V293E |
probably damaging |
Het |
Lrrn4 |
A |
G |
2: 132,711,663 (GRCm39) |
F720S |
possibly damaging |
Het |
Map2 |
G |
A |
1: 66,453,983 (GRCm39) |
A958T |
possibly damaging |
Het |
Map3k9 |
A |
G |
12: 81,770,871 (GRCm39) |
S906P |
probably benign |
Het |
Mdc1 |
T |
C |
17: 36,164,201 (GRCm39) |
S1250P |
probably benign |
Het |
Meltf |
G |
A |
16: 31,703,764 (GRCm39) |
V164I |
probably damaging |
Het |
Mtap |
T |
G |
4: 89,097,699 (GRCm39) |
|
probably null |
Het |
Mtus1 |
C |
A |
8: 41,475,443 (GRCm39) |
V184F |
probably damaging |
Het |
Myh1 |
A |
T |
11: 67,104,489 (GRCm39) |
D1015V |
probably damaging |
Het |
Ndrg1 |
T |
C |
15: 66,816,787 (GRCm39) |
|
probably null |
Het |
Nkd1 |
G |
T |
8: 89,311,803 (GRCm39) |
V130L |
probably benign |
Het |
Nsfl1c |
A |
G |
2: 151,342,673 (GRCm39) |
D81G |
probably benign |
Het |
Nt5c1b |
T |
A |
12: 10,431,391 (GRCm39) |
|
probably null |
Het |
Nucb1 |
T |
C |
7: 45,148,202 (GRCm39) |
K204E |
possibly damaging |
Het |
Nwd1 |
T |
G |
8: 73,401,801 (GRCm39) |
M774R |
possibly damaging |
Het |
Or2m13 |
A |
T |
16: 19,225,944 (GRCm39) |
V274E |
probably damaging |
Het |
Or52u1 |
G |
C |
7: 104,237,907 (GRCm39) |
E299Q |
probably damaging |
Het |
Or5an1c |
A |
T |
19: 12,218,318 (GRCm39) |
S236T |
possibly damaging |
Het |
Pan3 |
T |
A |
5: 147,473,082 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
A |
T |
10: 74,342,317 (GRCm39) |
T1135S |
probably benign |
Het |
Pfas |
A |
G |
11: 68,890,918 (GRCm39) |
I331T |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,488,647 (GRCm39) |
I1641N |
probably damaging |
Het |
Pramel27 |
C |
T |
4: 143,579,779 (GRCm39) |
P455S |
probably benign |
Het |
Ptar1 |
A |
T |
19: 23,695,465 (GRCm39) |
R311W |
probably damaging |
Het |
Ranbp2 |
T |
G |
10: 58,315,016 (GRCm39) |
M1912R |
probably damaging |
Het |
Rbm12 |
A |
G |
2: 155,939,223 (GRCm39) |
F350L |
possibly damaging |
Het |
Sdhaf1 |
T |
C |
7: 30,021,468 (GRCm39) |
D96G |
probably benign |
Het |
Serpinb6b |
T |
A |
13: 33,152,650 (GRCm39) |
M53K |
probably damaging |
Het |
Sh2d6 |
A |
T |
6: 72,494,147 (GRCm39) |
L147Q |
probably benign |
Het |
Slc19a2 |
T |
A |
1: 164,088,445 (GRCm39) |
C298S |
probably benign |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
St8sia2 |
T |
A |
7: 73,610,650 (GRCm39) |
Q211L |
possibly damaging |
Het |
Sult2a2 |
T |
C |
7: 13,468,822 (GRCm39) |
I96T |
possibly damaging |
Het |
Tab2 |
G |
T |
10: 7,783,247 (GRCm39) |
H678Q |
probably damaging |
Het |
Tnfaip6 |
A |
G |
2: 51,928,228 (GRCm39) |
E14G |
probably benign |
Het |
Trip11 |
A |
T |
12: 101,851,457 (GRCm39) |
L869H |
probably damaging |
Het |
Tslp |
T |
C |
18: 32,952,133 (GRCm39) |
Y133H |
not run |
Het |
Ttn |
T |
C |
2: 76,571,334 (GRCm39) |
I26520V |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,762,487 (GRCm39) |
V3374A |
unknown |
Het |
Tubgcp2 |
T |
A |
7: 139,587,837 (GRCm39) |
I263F |
possibly damaging |
Het |
Uaca |
A |
G |
9: 60,777,392 (GRCm39) |
E593G |
probably damaging |
Het |
Unc13b |
C |
T |
4: 43,172,235 (GRCm39) |
T1021I |
unknown |
Het |
Ush1c |
T |
A |
7: 45,874,979 (GRCm39) |
I131F |
probably benign |
Het |
Usp24 |
C |
A |
4: 106,236,304 (GRCm39) |
D997E |
probably benign |
Het |
Vmn1r151 |
A |
T |
7: 22,198,505 (GRCm39) |
M200K |
possibly damaging |
Het |
Vmn2r43 |
T |
C |
7: 8,258,328 (GRCm39) |
D295G |
probably damaging |
Het |
Vmn2r70 |
G |
A |
7: 85,213,076 (GRCm39) |
P444S |
probably damaging |
Het |
Vmn2r85 |
G |
T |
10: 130,254,849 (GRCm39) |
P612T |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,875,317 (GRCm39) |
V1736D |
|
Het |
Zbtb11 |
A |
T |
16: 55,810,850 (GRCm39) |
H336L |
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 |
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'- CCCTCTAGACATTACTCATTGGAG -3'
(R):5'- GCAACATGATCCACAGCAGG -3'
Sequencing Primer
(F):5'- GAAAAATGTTCCTTGCCAGCTATAC -3'
(R):5'- TGATCCACAGCAGGCCTTC -3'
|
Posted On |
2019-10-07 |