Incidental Mutation 'R5886:Usp54'
ID |
456116 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp54
|
Ensembl Gene |
ENSMUSG00000034235 |
Gene Name |
ubiquitin specific peptidase 54 |
Synonyms |
4930429G18Rik, C030002J06Rik |
MMRRC Submission |
044088-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5886 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
20598980-20691131 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 20611910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 969
(D969N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022356]
[ENSMUST00000035340]
|
AlphaFold |
Q8BL06 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022356
AA Change: D969N
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000022356 Gene: ENSMUSG00000034235 AA Change: D969N
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: D969N
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000036214 Gene: ENSMUSG00000034235 AA Change: D969N
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: ENSMUST00000224755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223899
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225721
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.0%
|
Validation Efficiency |
96% (78/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
A |
G |
11: 69,775,162 (GRCm39) |
V367A |
probably benign |
Het |
Adam26b |
T |
C |
8: 43,973,310 (GRCm39) |
E564G |
possibly damaging |
Het |
Akap1 |
A |
G |
11: 88,725,486 (GRCm39) |
|
probably null |
Het |
Akap5 |
T |
A |
12: 76,374,619 (GRCm39) |
V10E |
possibly damaging |
Het |
Atad2 |
A |
T |
15: 57,961,910 (GRCm39) |
L887* |
probably null |
Het |
Brd10 |
T |
C |
19: 29,696,677 (GRCm39) |
I939V |
probably benign |
Het |
C1qbp |
A |
G |
11: 70,873,008 (GRCm39) |
V122A |
probably benign |
Het |
C1qtnf7 |
G |
A |
5: 43,772,998 (GRCm39) |
G92D |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,249,651 (GRCm39) |
I219T |
probably damaging |
Het |
Capn12 |
A |
G |
7: 28,587,030 (GRCm39) |
N333S |
probably benign |
Het |
Ccdc154 |
C |
T |
17: 25,390,792 (GRCm39) |
T644I |
probably benign |
Het |
Cd200r1 |
T |
C |
16: 44,610,566 (GRCm39) |
S225P |
possibly damaging |
Het |
Cntnap5a |
T |
C |
1: 116,499,402 (GRCm39) |
|
probably null |
Het |
Coq4 |
A |
T |
2: 29,680,626 (GRCm39) |
|
probably benign |
Het |
Cubn |
A |
T |
2: 13,324,834 (GRCm39) |
|
probably benign |
Het |
Cyp4f17 |
A |
T |
17: 32,743,013 (GRCm39) |
S229C |
possibly damaging |
Het |
Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
D930007J09Rik |
C |
A |
13: 32,986,819 (GRCm39) |
A200E |
probably benign |
Het |
Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
Duoxa1 |
A |
T |
2: 122,134,291 (GRCm39) |
S276T |
possibly damaging |
Het |
Efcab15 |
A |
G |
11: 103,098,947 (GRCm39) |
|
probably null |
Het |
Efhb |
T |
C |
17: 53,758,582 (GRCm39) |
I351M |
probably benign |
Het |
Fat1 |
G |
A |
8: 45,480,718 (GRCm39) |
|
probably null |
Het |
Fat1 |
A |
T |
8: 45,486,432 (GRCm39) |
T3329S |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gm973 |
T |
A |
1: 59,597,409 (GRCm39) |
|
probably benign |
Het |
Gpr156 |
T |
A |
16: 37,799,375 (GRCm39) |
L124Q |
probably damaging |
Het |
Hars2 |
T |
A |
18: 36,923,150 (GRCm39) |
|
probably benign |
Het |
Hcrt |
G |
A |
11: 100,652,759 (GRCm39) |
A85V |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,310,088 (GRCm39) |
D776G |
probably damaging |
Het |
Hmgcr |
A |
T |
13: 96,796,691 (GRCm39) |
S200T |
probably damaging |
Het |
Krt40 |
C |
T |
11: 99,430,907 (GRCm39) |
A201T |
probably benign |
Het |
Lca5 |
G |
A |
9: 83,281,734 (GRCm39) |
A350V |
probably benign |
Het |
Lrig2 |
T |
A |
3: 104,370,014 (GRCm39) |
M515L |
probably benign |
Het |
Mbd5 |
A |
G |
2: 49,162,464 (GRCm39) |
D90G |
probably damaging |
Het |
Mfsd4a |
C |
T |
1: 131,995,465 (GRCm39) |
V56I |
probably damaging |
Het |
Mpi |
A |
G |
9: 57,455,745 (GRCm39) |
|
probably benign |
Het |
Mroh4 |
G |
T |
15: 74,478,296 (GRCm39) |
D935E |
possibly damaging |
Het |
Mtg1 |
G |
T |
7: 139,729,778 (GRCm39) |
|
probably null |
Het |
Nanos1 |
T |
A |
19: 60,745,268 (GRCm39) |
C189S |
probably damaging |
Het |
Naprt |
A |
C |
15: 75,763,324 (GRCm39) |
|
probably null |
Het |
Nubpl |
T |
A |
12: 52,228,092 (GRCm39) |
|
probably null |
Het |
Or10ad1b |
T |
C |
15: 98,124,672 (GRCm39) |
T285A |
possibly damaging |
Het |
Or10d4 |
G |
T |
9: 39,581,252 (GRCm39) |
V300L |
probably benign |
Het |
Or8g23 |
T |
A |
9: 38,971,678 (GRCm39) |
T95S |
probably benign |
Het |
Or9g20 |
A |
G |
2: 85,630,147 (GRCm39) |
S156P |
probably damaging |
Het |
Otud4 |
T |
A |
8: 80,399,436 (GRCm39) |
Y717N |
probably damaging |
Het |
Pakap |
T |
A |
4: 57,856,295 (GRCm39) |
D582E |
probably damaging |
Het |
Pnpla1 |
T |
C |
17: 29,095,837 (GRCm39) |
F86S |
possibly damaging |
Het |
Prlhr |
C |
T |
19: 60,456,014 (GRCm39) |
W184* |
probably null |
Het |
Rtp3 |
A |
G |
9: 110,816,204 (GRCm39) |
S116P |
probably damaging |
Het |
Sema3c |
T |
C |
5: 17,886,984 (GRCm39) |
I345T |
possibly damaging |
Het |
Skor2 |
T |
C |
18: 76,947,124 (GRCm39) |
L282P |
unknown |
Het |
Slc24a4 |
T |
C |
12: 102,226,674 (GRCm39) |
V468A |
probably damaging |
Het |
Slfn8 |
C |
T |
11: 82,894,160 (GRCm39) |
M826I |
probably benign |
Het |
Tacc2 |
A |
G |
7: 130,330,850 (GRCm39) |
D378G |
probably benign |
Het |
Thbs3 |
C |
A |
3: 89,127,470 (GRCm39) |
D370E |
probably damaging |
Het |
Tk1 |
CC |
GA |
11: 117,707,948 (GRCm39) |
|
probably benign |
Het |
Tm7sf2 |
A |
G |
19: 6,116,572 (GRCm39) |
|
probably benign |
Het |
Trappc8 |
T |
C |
18: 21,007,737 (GRCm39) |
Y126C |
probably damaging |
Het |
Trim35 |
C |
G |
14: 66,541,502 (GRCm39) |
L209V |
possibly damaging |
Het |
Trim35 |
T |
C |
14: 66,541,503 (GRCm39) |
L209P |
probably damaging |
Het |
Trip12 |
C |
T |
1: 84,708,179 (GRCm39) |
|
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,035,502 (GRCm39) |
V1583A |
probably damaging |
Het |
Tuba5-ps |
A |
G |
1: 134,447,937 (GRCm39) |
|
noncoding transcript |
Het |
Tubgcp6 |
A |
T |
15: 88,987,450 (GRCm39) |
N1166K |
possibly damaging |
Het |
Vldlr |
C |
A |
19: 27,221,171 (GRCm39) |
S612R |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,641,926 (GRCm39) |
T2234A |
probably benign |
Het |
Vps39 |
A |
G |
2: 120,152,053 (GRCm39) |
|
probably benign |
Het |
Zdhhc3 |
A |
T |
9: 122,920,146 (GRCm39) |
C120S |
probably benign |
Het |
Zfp37 |
A |
G |
4: 62,109,471 (GRCm39) |
F531S |
probably 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 |
|
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 |
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'- TTTCTGCATGGGGTCAGCAG -3'
(R):5'- TTTGAGGTGGACAGCGTCAATC -3'
Sequencing Primer
(F):5'- CATGGGGTCAGCAGCATGAAG -3'
(R):5'- AATCGCTCTGCATTCCACAGG -3'
|
Posted On |
2017-02-15 |