Incidental Mutation 'R0442:Usp54'
| ID |
39237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp54
|
| Ensembl Gene |
ENSMUSG00000034235 |
| Gene Name |
ubiquitin specific peptidase 54 |
| Synonyms |
4930429G18Rik, C030002J06Rik |
| MMRRC Submission |
038643-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0442 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20598980-20691131 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20657277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 7
(Y7C)
|
| 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: Y7C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: Y7C
| 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: Y7C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: Y7C
| 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 |
0.1373 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.5%
- 10x: 93.4%
- 20x: 81.2%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
A |
1: 25,435,551 (GRCm39) |
N816Y |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,553,563 (GRCm39) |
|
probably benign |
Het |
| Cd200 |
T |
A |
16: 45,217,518 (GRCm39) |
S58C |
probably damaging |
Het |
| Cep128 |
C |
T |
12: 91,233,545 (GRCm39) |
E508K |
probably damaging |
Het |
| Dnah2 |
C |
A |
11: 69,339,368 (GRCm39) |
L3046F |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,119,813 (GRCm39) |
N872D |
probably benign |
Het |
| Fam90a1a |
C |
T |
8: 22,453,074 (GRCm39) |
T143I |
probably benign |
Het |
| Fdft1 |
T |
C |
14: 63,400,798 (GRCm39) |
T112A |
probably benign |
Het |
| Gimap9 |
G |
T |
6: 48,655,000 (GRCm39) |
G196* |
probably null |
Het |
| Grhl1 |
G |
A |
12: 24,662,169 (GRCm39) |
R536Q |
probably damaging |
Het |
| Gtpbp3 |
T |
A |
8: 71,944,135 (GRCm39) |
V293E |
probably damaging |
Het |
| Hcn3 |
A |
T |
3: 89,058,847 (GRCm39) |
F251Y |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,462,045 (GRCm39) |
C971S |
possibly damaging |
Het |
| Helz2 |
T |
A |
2: 180,874,002 (GRCm39) |
D2164V |
probably damaging |
Het |
| Hif1an |
T |
G |
19: 44,554,451 (GRCm39) |
L188R |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
C |
T |
3: 88,023,266 (GRCm39) |
P519L |
probably damaging |
Het |
| Jakmip1 |
T |
G |
5: 37,292,897 (GRCm39) |
|
probably null |
Het |
| Klra1 |
T |
C |
6: 130,349,835 (GRCm39) |
Y201C |
probably damaging |
Het |
| Minpp1 |
T |
C |
19: 32,471,348 (GRCm39) |
F299L |
possibly damaging |
Het |
| Myb |
A |
G |
10: 21,002,095 (GRCm39) |
S749P |
probably benign |
Het |
| Myo3b |
T |
C |
2: 70,069,305 (GRCm39) |
|
probably null |
Het |
| Naip1 |
T |
A |
13: 100,581,024 (GRCm39) |
R74S |
probably benign |
Het |
| Nt5m |
A |
G |
11: 59,765,445 (GRCm39) |
T158A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,893,000 (GRCm39) |
|
probably benign |
Het |
| Or5af1 |
T |
A |
11: 58,722,257 (GRCm39) |
Y92* |
probably null |
Het |
| Or5b119 |
T |
G |
19: 13,457,412 (GRCm39) |
D50A |
probably damaging |
Het |
| Or6c210 |
T |
C |
10: 129,495,693 (GRCm39) |
I6T |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,712,716 (GRCm39) |
T543S |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,640,009 (GRCm39) |
|
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,288,000 (GRCm39) |
M49T |
possibly damaging |
Het |
| Rabl6 |
A |
T |
2: 25,477,534 (GRCm39) |
S305R |
probably damaging |
Het |
| Rad54b |
G |
A |
4: 11,609,480 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
C |
A |
4: 11,610,362 (GRCm39) |
R660S |
probably benign |
Het |
| Rexo5 |
T |
C |
7: 119,442,508 (GRCm39) |
L542P |
probably damaging |
Het |
| Rp1 |
C |
T |
1: 4,416,970 (GRCm39) |
D1381N |
probably benign |
Het |
| Scnn1a |
T |
G |
6: 125,316,100 (GRCm39) |
M346R |
probably damaging |
Het |
| Sirpb1c |
A |
G |
3: 15,856,710 (GRCm39) |
I380T |
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Sstr3 |
A |
T |
15: 78,424,597 (GRCm39) |
L50Q |
probably damaging |
Het |
| St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
| St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
| Sun5 |
T |
C |
2: 153,712,872 (GRCm39) |
D16G |
possibly damaging |
Het |
| Svil |
A |
T |
18: 5,046,870 (GRCm39) |
T39S |
probably damaging |
Het |
| Taar1 |
A |
G |
10: 23,796,380 (GRCm39) |
Y26C |
possibly damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Use1 |
T |
C |
8: 71,819,702 (GRCm39) |
|
probably benign |
Het |
| Zbtb37 |
A |
G |
1: 160,859,918 (GRCm39) |
F129S |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,304,357 (GRCm39) |
H1209R |
possibly damaging |
Het |
| Zfp28 |
T |
C |
7: 6,397,998 (GRCm39) |
L811P |
probably damaging |
Het |
| Zfp616 |
T |
C |
11: 73,975,321 (GRCm39) |
I530T |
possibly damaging |
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 |
|
|
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 |
|
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'- CTTGGGAGCCATCAAGTATCACATCTG -3'
(R):5'- GTAGGGAGGCCGTTTTAGCAACATAG -3'
Sequencing Primer
(F):5'- TCAAGTATCACATCTGAAAATCTGC -3'
(R):5'- AAAGGCACAGTTCCTTGCCT -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation