Incidental Mutation 'R4659:Usp54'
| ID |
352704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp54
|
| Ensembl Gene |
ENSMUSG00000034235 |
| Gene Name |
ubiquitin specific peptidase 54 |
| Synonyms |
4930429G18Rik, C030002J06Rik |
| MMRRC Submission |
041919-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4659 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20598980-20691131 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 20615060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 794
(Q794K)
|
| 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: Q794K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: Q794K
| 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: Q794K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: Q794K
| 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
|
| Meta Mutation Damage Score |
0.1037 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
96% (74/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
A |
6: 142,618,321 (GRCm39) |
|
probably null |
Het |
| Ankrd22 |
C |
T |
19: 34,102,968 (GRCm39) |
V118I |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,811,469 (GRCm39) |
N1114S |
possibly damaging |
Het |
| AU021092 |
C |
G |
16: 5,030,011 (GRCm39) |
A335P |
probably damaging |
Het |
| Carhsp1 |
T |
C |
16: 8,482,129 (GRCm39) |
T51A |
probably benign |
Het |
| Cdc42bpb |
T |
C |
12: 111,306,325 (GRCm39) |
D152G |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,178,394 (GRCm39) |
D497E |
possibly damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,102 (GRCm39) |
N338S |
probably benign |
Het |
| Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,528,229 (GRCm39) |
*586K |
probably null |
Het |
| Cplane1 |
G |
T |
15: 8,245,760 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,384,085 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,595,201 (GRCm39) |
F1371S |
possibly damaging |
Het |
| Eif6 |
A |
G |
2: 155,668,101 (GRCm39) |
I46T |
probably damaging |
Het |
| Esco2 |
G |
A |
14: 66,064,035 (GRCm39) |
T383M |
possibly damaging |
Het |
| Exoc8 |
T |
C |
8: 125,624,271 (GRCm39) |
D32G |
probably damaging |
Het |
| Fam149b |
G |
T |
14: 20,417,941 (GRCm39) |
S216I |
probably benign |
Het |
| Fam219a |
T |
C |
4: 41,521,645 (GRCm39) |
D87G |
probably null |
Het |
| Fbxw26 |
A |
T |
9: 109,573,939 (GRCm39) |
V71D |
probably damaging |
Het |
| Gabra4 |
T |
A |
5: 71,798,487 (GRCm39) |
K164M |
probably damaging |
Het |
| Gm57858 |
T |
C |
3: 36,080,103 (GRCm39) |
D218G |
possibly damaging |
Het |
| Gm8603 |
G |
A |
17: 13,737,290 (GRCm39) |
|
noncoding transcript |
Het |
| Gnmt |
A |
G |
17: 47,036,892 (GRCm39) |
F239S |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,305,444 (GRCm39) |
D2V |
probably benign |
Het |
| Limch1 |
C |
T |
5: 67,184,900 (GRCm39) |
R797C |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,517,038 (GRCm39) |
F597I |
probably damaging |
Het |
| Lrriq3 |
T |
A |
3: 154,835,090 (GRCm39) |
I275N |
possibly damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,560,840 (GRCm39) |
S387R |
probably damaging |
Het |
| Mgst3 |
T |
A |
1: 167,204,848 (GRCm39) |
Q58L |
probably damaging |
Het |
| Mical1 |
G |
A |
10: 41,362,932 (GRCm39) |
|
probably benign |
Het |
| Mmp3 |
C |
A |
9: 7,453,673 (GRCm39) |
D431E |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,256,439 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,734,673 (GRCm39) |
L607P |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,899,456 (GRCm39) |
N153D |
probably damaging |
Het |
| Nfu1 |
A |
T |
6: 86,996,408 (GRCm39) |
T120S |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,564,699 (GRCm39) |
V341A |
possibly damaging |
Het |
| Notch1 |
T |
C |
2: 26,360,901 (GRCm39) |
E1148G |
probably damaging |
Het |
| Nqo1 |
C |
T |
8: 108,117,676 (GRCm39) |
|
probably null |
Het |
| Nwd1 |
T |
A |
8: 73,421,949 (GRCm39) |
D998E |
probably benign |
Het |
| Or8k18 |
G |
A |
2: 86,085,357 (GRCm39) |
Q227* |
probably null |
Het |
| Oxct2a |
T |
C |
4: 123,216,473 (GRCm39) |
I303V |
probably benign |
Het |
| Parp10 |
A |
T |
15: 76,127,185 (GRCm39) |
D58E |
probably damaging |
Het |
| Pcdha6 |
T |
A |
18: 37,102,292 (GRCm39) |
V495E |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,603,218 (GRCm39) |
S88R |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,044,552 (GRCm39) |
V510A |
probably benign |
Het |
| Ranbp17 |
T |
A |
11: 33,216,288 (GRCm39) |
D820V |
probably damaging |
Het |
| Sec24c |
G |
T |
14: 20,733,212 (GRCm39) |
G180C |
probably damaging |
Het |
| Serpina3n |
T |
C |
12: 104,379,752 (GRCm39) |
S382P |
probably benign |
Het |
| Sestd1 |
A |
T |
2: 77,042,843 (GRCm39) |
M237K |
probably null |
Het |
| Sf3a2 |
T |
C |
10: 80,639,418 (GRCm39) |
I136T |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,107,580 (GRCm39) |
Y197C |
probably benign |
Het |
| Speer4b |
T |
C |
5: 27,702,893 (GRCm39) |
K204E |
probably benign |
Het |
| Speer4f1 |
A |
C |
5: 17,681,221 (GRCm39) |
E33A |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,461,147 (GRCm39) |
D3529E |
probably damaging |
Het |
| Stard13 |
T |
C |
5: 150,986,253 (GRCm39) |
D419G |
probably benign |
Het |
| Tg |
A |
G |
15: 66,545,769 (GRCm39) |
S164G |
possibly damaging |
Het |
| Thap12 |
A |
G |
7: 98,359,298 (GRCm39) |
|
probably benign |
Het |
| Thsd1 |
C |
A |
8: 22,749,314 (GRCm39) |
Y667* |
probably null |
Het |
| Tnks |
A |
C |
8: 35,316,465 (GRCm39) |
Y885D |
possibly damaging |
Het |
| Ttll3 |
A |
G |
6: 113,391,102 (GRCm39) |
I896V |
probably benign |
Het |
| Txnip |
T |
G |
3: 96,466,743 (GRCm39) |
F190C |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,573,017 (GRCm39) |
D1005G |
probably damaging |
Het |
| Usp3 |
T |
C |
9: 66,434,352 (GRCm39) |
|
probably null |
Het |
| Xrn2 |
A |
G |
2: 146,903,394 (GRCm39) |
Q798R |
probably benign |
Het |
| Zfp189 |
A |
G |
4: 49,530,342 (GRCm39) |
I482V |
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,396,506 (GRCm39) |
N314D |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,842,221 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AGTTCGTGCTATGGCGTAC -3'
(R):5'- ATGCACAGTCCATGCCTTG -3'
Sequencing Primer
(F):5'- TGGCGTACCCATGGACACTG -3'
(R):5'- GCTGCTACATATTTTGTTTTACCG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation