Incidental Mutation 'R1565:Usp54'
| ID |
175218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp54
|
| Ensembl Gene |
ENSMUSG00000034235 |
| Gene Name |
ubiquitin specific peptidase 54 |
| Synonyms |
C030002J06Rik, 4930429G18Rik |
| MMRRC Submission |
039604-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1565 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20548912-20641063 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20607159 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 24
(S24P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022356]
[ENSMUST00000035340]
|
| AlphaFold |
Q8BL06 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022356
AA Change: S24P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: S24P
| 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 damaging
Transcript: ENSMUST00000035340
AA Change: S24P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: S24P
| 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: ENSMUST00000127342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143267
|
| Meta Mutation Damage Score |
0.0645 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.0%
|
| Validation Efficiency |
96% (82/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,880,501 (GRCm38) |
G270S |
probably benign |
Het |
| Abtb1 |
T |
C |
6: 88,836,554 (GRCm38) |
T401A |
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,270,897 (GRCm38) |
M148K |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,268,957 (GRCm38) |
E508G |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,757,318 (GRCm38) |
L875H |
probably damaging |
Het |
| Cacng3 |
A |
T |
7: 122,768,401 (GRCm38) |
D168V |
probably damaging |
Het |
| Clpb |
G |
A |
7: 101,785,461 (GRCm38) |
R488Q |
probably benign |
Het |
| Cpxm2 |
A |
T |
7: 132,062,145 (GRCm38) |
Y350N |
probably damaging |
Het |
| D130040H23Rik |
T |
A |
8: 69,303,160 (GRCm38) |
*406R |
probably null |
Het |
| Dnah10 |
T |
A |
5: 124,829,614 (GRCm38) |
D4236E |
probably damaging |
Het |
| Dpf3 |
T |
A |
12: 83,370,617 (GRCm38) |
Y27F |
probably damaging |
Het |
| Esp4 |
T |
C |
17: 40,602,595 (GRCm38) |
*118Q |
probably null |
Het |
| Fam222b |
T |
C |
11: 78,154,662 (GRCm38) |
S222P |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,455,171 (GRCm38) |
V1933A |
probably damaging |
Het |
| Gem |
T |
C |
4: 11,713,709 (GRCm38) |
F282L |
possibly damaging |
Het |
| Gli2 |
T |
C |
1: 118,841,930 (GRCm38) |
T631A |
possibly damaging |
Het |
| Gm13088 |
G |
A |
4: 143,655,617 (GRCm38) |
Q170* |
probably null |
Het |
| Gpld1 |
T |
A |
13: 24,956,068 (GRCm38) |
V116E |
probably damaging |
Het |
| Gpr176 |
A |
G |
2: 118,280,214 (GRCm38) |
M188T |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,089,972 (GRCm38) |
V489A |
probably damaging |
Het |
| H2-Ke6 |
C |
T |
17: 34,027,495 (GRCm38) |
V105I |
possibly damaging |
Het |
| Hpdl |
T |
C |
4: 116,820,883 (GRCm38) |
N127S |
probably damaging |
Het |
| Id4 |
G |
T |
13: 48,262,294 (GRCm38) |
V151L |
possibly damaging |
Het |
| Kcnh8 |
G |
T |
17: 52,956,881 (GRCm38) |
G802V |
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,242,743 (GRCm38) |
S894I |
probably benign |
Het |
| Larp1b |
A |
G |
3: 40,972,384 (GRCm38) |
N184S |
probably damaging |
Het |
| Lhx1 |
A |
T |
11: 84,519,821 (GRCm38) |
S226T |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 101,887,521 (GRCm38) |
Q472L |
probably damaging |
Het |
| Mog |
G |
C |
17: 37,017,582 (GRCm38) |
N152K |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 138,116,405 (GRCm38) |
|
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,252,509 (GRCm38) |
V953A |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,340,280 (GRCm38) |
Y509F |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,315,192 (GRCm38) |
N303S |
possibly damaging |
Het |
| Nek3 |
T |
C |
8: 22,132,201 (GRCm38) |
|
probably null |
Het |
| Nlrc4 |
A |
T |
17: 74,441,931 (GRCm38) |
D771E |
probably benign |
Het |
| Nup160 |
A |
T |
2: 90,722,061 (GRCm38) |
N1127I |
possibly damaging |
Het |
| Oas1h |
A |
T |
5: 120,862,600 (GRCm38) |
N91I |
probably damaging |
Het |
| Olfr1225 |
A |
T |
2: 89,170,627 (GRCm38) |
V195D |
probably benign |
Het |
| Olfr1226 |
G |
T |
2: 89,193,883 (GRCm38) |
S50R |
probably damaging |
Het |
| Olfr1342 |
T |
A |
4: 118,690,192 (GRCm38) |
N87Y |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,589,872 (GRCm38) |
|
probably benign |
Het |
| Pi4ka |
G |
A |
16: 17,281,900 (GRCm38) |
C96Y |
probably null |
Het |
| Pira2 |
A |
T |
7: 3,844,549 (GRCm38) |
F47Y |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,347,457 (GRCm38) |
G2490V |
probably damaging |
Het |
| Plekhg1 |
C |
T |
10: 3,940,526 (GRCm38) |
T394I |
probably damaging |
Het |
| Psmd1 |
T |
C |
1: 86,091,997 (GRCm38) |
|
probably benign |
Het |
| Rab3ip |
A |
T |
10: 116,939,223 (GRCm38) |
C77S |
probably benign |
Het |
| Reln |
A |
T |
5: 21,925,213 (GRCm38) |
M2700K |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,073,946 (GRCm38) |
T59A |
probably benign |
Het |
| Ric8b |
G |
T |
10: 84,980,099 (GRCm38) |
V405L |
probably benign |
Het |
| Rufy3 |
G |
T |
5: 88,640,632 (GRCm38) |
A479S |
probably damaging |
Het |
| Sardh |
A |
T |
2: 27,242,719 (GRCm38) |
Y166N |
probably damaging |
Het |
| Slamf6 |
T |
G |
1: 171,934,408 (GRCm38) |
V132G |
possibly damaging |
Het |
| Slc12a3 |
T |
G |
8: 94,345,877 (GRCm38) |
H674Q |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,281,654 (GRCm38) |
V830M |
possibly damaging |
Het |
| Srsf9 |
A |
G |
5: 115,327,370 (GRCm38) |
N21S |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,950,090 (GRCm38) |
T391S |
probably benign |
Het |
| Sumf2 |
C |
A |
5: 129,859,914 (GRCm38) |
N230K |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,235,569 (GRCm38) |
V22A |
possibly damaging |
Het |
| Thsd7b |
T |
A |
1: 129,596,041 (GRCm38) |
S194T |
possibly damaging |
Het |
| Tmem27 |
A |
G |
X: 164,118,234 (GRCm38) |
D184G |
possibly damaging |
Het |
| Tnn |
T |
A |
1: 160,097,265 (GRCm38) |
Y1173F |
probably damaging |
Het |
| Top2a |
A |
G |
11: 99,001,054 (GRCm38) |
F1122L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 73,025,967 (GRCm38) |
R377W |
probably damaging |
Het |
| Trim39 |
G |
A |
17: 36,268,854 (GRCm38) |
R70W |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,794,261 (GRCm38) |
T15289I |
probably damaging |
Het |
| Ugt2b38 |
A |
T |
5: 87,411,914 (GRCm38) |
V373E |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,231,634 (GRCm38) |
G51S |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,667,594 (GRCm38) |
A579T |
probably benign |
Het |
| Zbtb21 |
A |
G |
16: 97,952,427 (GRCm38) |
S247P |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,777,088 (GRCm38) |
P376L |
probably benign |
Het |
| Zfp251 |
T |
A |
15: 76,853,038 (GRCm38) |
R613S |
probably damaging |
Het |
| Zfp251 |
C |
T |
15: 76,853,039 (GRCm38) |
R613K |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,779,075 (GRCm38) |
D135G |
probably benign |
Het |
|
| Other mutations in Usp54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Usp54
|
APN |
14 |
20,573,837 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01090:Usp54
|
APN |
14 |
20,586,157 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02030:Usp54
|
APN |
14 |
20,565,946 (GRCm38) |
missense |
probably benign |
0.44 |
|
IGL02333:Usp54
|
APN |
14 |
20,589,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02642:Usp54
|
APN |
14 |
20,565,072 (GRCm38) |
splice site |
probably benign |
|
|
IGL02970:Usp54
|
APN |
14 |
20,577,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03371:Usp54
|
APN |
14 |
20,589,368 (GRCm38) |
unclassified |
probably benign |
|
|
BB003:Usp54
|
UTSW |
14 |
20,576,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB013:Usp54
|
UTSW |
14 |
20,576,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0050:Usp54
|
UTSW |
14 |
20,573,755 (GRCm38) |
unclassified |
probably benign |
|
|
R0383:Usp54
|
UTSW |
14 |
20,561,252 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0427:Usp54
|
UTSW |
14 |
20,570,364 (GRCm38) |
missense |
probably benign |
|
|
R0442:Usp54
|
UTSW |
14 |
20,607,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0574:Usp54
|
UTSW |
14 |
20,556,254 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0638:Usp54
|
UTSW |
14 |
20,589,369 (GRCm38) |
unclassified |
probably benign |
|
|
R0789:Usp54
|
UTSW |
14 |
20,562,157 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1272:Usp54
|
UTSW |
14 |
20,561,110 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1463:Usp54
|
UTSW |
14 |
20,550,190 (GRCm38) |
missense |
probably benign |
0.15 |
|
R1721:Usp54
|
UTSW |
14 |
20,583,440 (GRCm38) |
nonsense |
probably null |
|
|
R1922:Usp54
|
UTSW |
14 |
20,560,904 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2068:Usp54
|
UTSW |
14 |
20,577,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2216:Usp54
|
UTSW |
14 |
20,561,840 (GRCm38) |
missense |
probably benign |
|
|
R2285:Usp54
|
UTSW |
14 |
20,561,178 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R2426:Usp54
|
UTSW |
14 |
20,564,940 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3855:Usp54
|
UTSW |
14 |
20,588,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3856:Usp54
|
UTSW |
14 |
20,588,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3907:Usp54
|
UTSW |
14 |
20,586,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4367:Usp54
|
UTSW |
14 |
20,561,134 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4384:Usp54
|
UTSW |
14 |
20,550,085 (GRCm38) |
splice site |
probably null |
|
|
R4555:Usp54
|
UTSW |
14 |
20,561,022 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4617:Usp54
|
UTSW |
14 |
20,550,338 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4659:Usp54
|
UTSW |
14 |
20,564,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4672:Usp54
|
UTSW |
14 |
20,581,529 (GRCm38) |
intron |
probably benign |
|
|
R4928:Usp54
|
UTSW |
14 |
20,562,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5381:Usp54
|
UTSW |
14 |
20,586,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5408:Usp54
|
UTSW |
14 |
20,550,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5630:Usp54
|
UTSW |
14 |
20,565,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5841:Usp54
|
UTSW |
14 |
20,550,283 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5886:Usp54
|
UTSW |
14 |
20,561,842 (GRCm38) |
missense |
probably benign |
0.28 |
|
R5922:Usp54
|
UTSW |
14 |
20,552,071 (GRCm38) |
splice site |
probably null |
|
|
R5975:Usp54
|
UTSW |
14 |
20,583,351 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6074:Usp54
|
UTSW |
14 |
20,552,099 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6183:Usp54
|
UTSW |
14 |
20,552,245 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6234:Usp54
|
UTSW |
14 |
20,583,450 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6303:Usp54
|
UTSW |
14 |
20,560,968 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6304:Usp54
|
UTSW |
14 |
20,560,968 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6695:Usp54
|
UTSW |
14 |
20,560,869 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6774:Usp54
|
UTSW |
14 |
20,577,228 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6941:Usp54
|
UTSW |
14 |
20,562,109 (GRCm38) |
missense |
probably benign |
|
|
R7133:Usp54
|
UTSW |
14 |
20,561,242 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7196:Usp54
|
UTSW |
14 |
20,588,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7409:Usp54
|
UTSW |
14 |
20,552,245 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7424:Usp54
|
UTSW |
14 |
20,577,040 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7859:Usp54
|
UTSW |
14 |
20,588,136 (GRCm38) |
missense |
probably benign |
0.24 |
|
R7926:Usp54
|
UTSW |
14 |
20,576,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7954:Usp54
|
UTSW |
14 |
20,561,913 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8489:Usp54
|
UTSW |
14 |
20,561,536 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8745:Usp54
|
UTSW |
14 |
20,562,108 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8775:Usp54
|
UTSW |
14 |
20,588,398 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8775-TAIL:Usp54
|
UTSW |
14 |
20,588,398 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9080:Usp54
|
UTSW |
14 |
20,562,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9121:Usp54
|
UTSW |
14 |
20,581,455 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9139:Usp54
|
UTSW |
14 |
20,577,094 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9433:Usp54
|
UTSW |
14 |
20,561,610 (GRCm38) |
missense |
probably benign |
|
|
R9613:Usp54
|
UTSW |
14 |
20,550,370 (GRCm38) |
missense |
probably damaging |
0.97 |
|
RF004:Usp54
|
UTSW |
14 |
20,561,300 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
X0024:Usp54
|
UTSW |
14 |
20,577,251 (GRCm38) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACAGCACACCTAGAGTTTCTAC -3'
(R):5'- GACTTCAAAAGGCACAGTTCCTTGC -3'
Sequencing Primer
(F):5'- tgggtaggcagaggtgg -3'
(R):5'- AAGGCACAGTTCCTTGCCTATC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation