Incidental Mutation 'R2216:Usp54'
ID |
241175 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp54
|
Ensembl Gene |
ENSMUSG00000034235 |
Gene Name |
ubiquitin specific peptidase 54 |
Synonyms |
4930429G18Rik, C030002J06Rik |
MMRRC Submission |
040218-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2216 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
20598980-20691131 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 20611908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 969
(D969E)
|
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: D969E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022356 Gene: ENSMUSG00000034235 AA Change: D969E
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: D969E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000036214 Gene: ENSMUSG00000034235 AA Change: D969E
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aipl1 |
G |
T |
11: 71,922,272 (GRCm39) |
P146T |
probably damaging |
Het |
Arnt2 |
T |
A |
7: 83,924,559 (GRCm39) |
T423S |
probably damaging |
Het |
Bend5 |
A |
G |
4: 111,305,787 (GRCm39) |
N277S |
probably null |
Het |
Cd22 |
G |
T |
7: 30,566,471 (GRCm39) |
T816N |
probably damaging |
Het |
Cep126 |
G |
A |
9: 8,120,679 (GRCm39) |
R115C |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,858,741 (GRCm39) |
H710R |
possibly damaging |
Het |
Cmya5 |
A |
T |
13: 93,230,003 (GRCm39) |
L1695H |
probably damaging |
Het |
Col24a1 |
T |
C |
3: 145,020,742 (GRCm39) |
V371A |
probably benign |
Het |
Csmd1 |
T |
A |
8: 17,077,355 (GRCm39) |
|
probably null |
Het |
Cyp1a1 |
T |
A |
9: 57,609,352 (GRCm39) |
|
probably null |
Het |
Dennd1c |
C |
T |
17: 57,381,492 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
G |
A |
18: 50,026,990 (GRCm39) |
V2033I |
probably benign |
Het |
Dtna |
A |
G |
18: 23,702,622 (GRCm39) |
H51R |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,184,227 (GRCm39) |
|
probably null |
Het |
Gcn1 |
T |
A |
5: 115,731,720 (GRCm39) |
V945E |
probably benign |
Het |
Gpbar1 |
C |
G |
1: 74,318,053 (GRCm39) |
L99V |
probably damaging |
Het |
Hdac9 |
A |
T |
12: 34,479,516 (GRCm39) |
D212E |
probably damaging |
Het |
Itga1 |
A |
T |
13: 115,133,565 (GRCm39) |
D448E |
probably benign |
Het |
Itga2b |
T |
A |
11: 102,358,692 (GRCm39) |
N75I |
probably benign |
Het |
Klra7 |
T |
C |
6: 130,205,549 (GRCm39) |
E117G |
probably benign |
Het |
Kmt2b |
G |
A |
7: 30,273,490 (GRCm39) |
R2349C |
probably benign |
Het |
Masp1 |
T |
C |
16: 23,310,805 (GRCm39) |
N209S |
probably benign |
Het |
Mybpc2 |
C |
T |
7: 44,161,924 (GRCm39) |
|
probably null |
Het |
Myh15 |
C |
G |
16: 48,986,201 (GRCm39) |
S1557* |
probably null |
Het |
Myo3a |
A |
C |
2: 22,467,783 (GRCm39) |
T346P |
probably benign |
Het |
Nim1k |
A |
G |
13: 120,175,751 (GRCm39) |
Y152H |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,802,077 (GRCm39) |
R507* |
probably null |
Het |
Or13n4 |
T |
A |
7: 106,423,205 (GRCm39) |
H176L |
probably damaging |
Het |
Or5e1 |
C |
T |
7: 108,354,819 (GRCm39) |
T252M |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,677,575 (GRCm39) |
I798V |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,614,816 (GRCm39) |
A212T |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,437,291 (GRCm39) |
H3522L |
probably damaging |
Het |
Pram1 |
C |
T |
17: 33,860,258 (GRCm39) |
A275V |
probably benign |
Het |
Pramel18 |
T |
A |
4: 101,767,257 (GRCm39) |
W169R |
probably damaging |
Het |
Prkag1 |
A |
T |
15: 98,713,827 (GRCm39) |
M1K |
probably null |
Het |
Prss52 |
T |
C |
14: 64,351,042 (GRCm39) |
S276P |
probably damaging |
Het |
Ranbp17 |
A |
T |
11: 33,431,125 (GRCm39) |
V284D |
probably damaging |
Het |
Reln |
T |
C |
5: 22,253,003 (GRCm39) |
D648G |
probably benign |
Het |
Rnf112 |
A |
G |
11: 61,343,105 (GRCm39) |
L190P |
probably damaging |
Het |
Scn5a |
G |
T |
9: 119,314,678 (GRCm39) |
P2010Q |
probably benign |
Het |
Scn5a |
T |
C |
9: 119,342,151 (GRCm39) |
Y1138C |
probably benign |
Het |
Slc4a9 |
A |
G |
18: 36,663,798 (GRCm39) |
H274R |
probably benign |
Het |
Slc5a6 |
T |
G |
5: 31,196,679 (GRCm39) |
E391D |
possibly damaging |
Het |
Speer2 |
T |
C |
16: 69,655,730 (GRCm39) |
Q32R |
possibly damaging |
Het |
Tars1 |
A |
G |
15: 11,389,794 (GRCm39) |
V372A |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,337,267 (GRCm39) |
L1250Q |
possibly damaging |
Het |
Tnnt3 |
A |
G |
7: 142,066,301 (GRCm39) |
Y222C |
probably benign |
Het |
Trim40 |
T |
C |
17: 37,199,875 (GRCm39) |
I68V |
probably benign |
Het |
Trp53tg5 |
T |
C |
2: 164,313,226 (GRCm39) |
I150V |
probably benign |
Het |
Ube2u |
T |
C |
4: 100,389,365 (GRCm39) |
V109A |
probably benign |
Het |
Vil1 |
G |
T |
1: 74,464,838 (GRCm39) |
R495L |
probably benign |
Het |
Wfs1 |
T |
A |
5: 37,124,564 (GRCm39) |
K700* |
probably null |
Het |
Zcchc8 |
A |
G |
5: 123,845,466 (GRCm39) |
L298P |
probably damaging |
Het |
Zfp946 |
A |
T |
17: 22,673,697 (GRCm39) |
Q150H |
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 |
|
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 |
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'- AAGTTTCTGCATGGGGTCAGC -3'
(R):5'- TGAGGTGGACAGCGTCAATC -3'
Sequencing Primer
(F):5'- CATGGGGTCAGCAGCATG -3'
(R):5'- AATCGCTCTGCATTCCACAGG -3'
|
Posted On |
2014-10-15 |