Incidental Mutation 'IGL02642:Usp54'
| ID |
301805 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp54
|
| Ensembl Gene |
ENSMUSG00000034235 |
| Gene Name |
ubiquitin specific peptidase 54 |
| Synonyms |
4930429G18Rik, C030002J06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02642
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
20598980-20691131 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 20615140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022356]
[ENSMUST00000035340]
|
| AlphaFold |
Q8BL06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022356
|
| SMART Domains |
Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
| 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
|
| SMART Domains |
Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
| 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: ENSMUST00000223899
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225721
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
T |
C |
3: 153,644,720 (GRCm39) |
D68G |
probably damaging |
Het |
| Amer3 |
A |
G |
1: 34,625,761 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,390 (GRCm39) |
L2133P |
probably damaging |
Het |
| Bcdin3d |
G |
T |
15: 99,368,673 (GRCm39) |
H175Q |
probably damaging |
Het |
| Brd8 |
C |
A |
18: 34,741,117 (GRCm39) |
|
probably benign |
Het |
| C1rl |
C |
A |
6: 124,470,806 (GRCm39) |
T38N |
possibly damaging |
Het |
| Cd160 |
T |
C |
3: 96,707,927 (GRCm39) |
T140A |
probably benign |
Het |
| Cdk16 |
T |
G |
X: 20,563,167 (GRCm39) |
D381E |
probably benign |
Het |
| Cpq |
G |
A |
15: 33,381,546 (GRCm39) |
G303D |
probably damaging |
Het |
| Dmp1 |
T |
C |
5: 104,359,536 (GRCm39) |
S71P |
probably damaging |
Het |
| Enc1 |
A |
C |
13: 97,382,042 (GRCm39) |
D184A |
possibly damaging |
Het |
| Enkur |
T |
C |
2: 21,199,198 (GRCm39) |
D112G |
probably benign |
Het |
| Esrra |
A |
T |
19: 6,890,218 (GRCm39) |
V59E |
possibly damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,433,058 (GRCm39) |
N47S |
probably benign |
Het |
| Fads1 |
T |
A |
19: 10,163,785 (GRCm39) |
V189D |
probably damaging |
Het |
| Fam167a |
T |
A |
14: 63,689,721 (GRCm39) |
I6N |
probably damaging |
Het |
| Fam98b |
A |
G |
2: 117,090,793 (GRCm39) |
T164A |
probably benign |
Het |
| Fhip2a |
A |
G |
19: 57,373,782 (GRCm39) |
N681D |
possibly damaging |
Het |
| Fryl |
T |
A |
5: 73,252,809 (GRCm39) |
I953L |
probably benign |
Het |
| Gm10610 |
T |
A |
7: 83,198,813 (GRCm39) |
|
noncoding transcript |
Het |
| Grik5 |
G |
T |
7: 24,758,408 (GRCm39) |
N338K |
possibly damaging |
Het |
| Gstt2 |
A |
G |
10: 75,668,652 (GRCm39) |
I72T |
probably benign |
Het |
| Gusb |
T |
C |
5: 130,029,376 (GRCm39) |
|
probably null |
Het |
| Hccs |
A |
G |
X: 168,098,588 (GRCm39) |
|
probably benign |
Het |
| Hoxb4 |
A |
G |
11: 96,211,050 (GRCm39) |
K217E |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,319,503 (GRCm39) |
V22I |
possibly damaging |
Het |
| Ighv1-47 |
A |
G |
12: 114,954,844 (GRCm39) |
Y79H |
probably damaging |
Het |
| Il7r |
C |
A |
15: 9,513,133 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,119,361 (GRCm39) |
M2613L |
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,343,269 (GRCm39) |
H68Y |
probably damaging |
Het |
| Lce1c |
C |
A |
3: 92,587,845 (GRCm39) |
|
probably benign |
Het |
| Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
| Lrfn1 |
T |
C |
7: 28,158,113 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 103,057,322 (GRCm39) |
|
probably null |
Het |
| Mri1 |
A |
T |
8: 84,983,702 (GRCm39) |
L63Q |
probably damaging |
Het |
| Mrps11 |
G |
T |
7: 78,438,522 (GRCm39) |
|
probably null |
Het |
| Mtif2 |
C |
A |
11: 29,494,395 (GRCm39) |
Q666K |
probably benign |
Het |
| Mtr |
A |
T |
13: 12,210,118 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,859,544 (GRCm39) |
N1181S |
probably benign |
Het |
| Myom1 |
A |
T |
17: 71,408,093 (GRCm39) |
E1209V |
possibly damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,284,138 (GRCm39) |
I26M |
possibly damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,014,358 (GRCm39) |
K297N |
probably benign |
Het |
| Obox5 |
T |
C |
7: 15,491,972 (GRCm39) |
V129A |
probably benign |
Het |
| Pex16 |
C |
T |
2: 92,206,981 (GRCm39) |
A53V |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,107 (GRCm39) |
F453L |
probably damaging |
Het |
| Pip5k1b |
G |
T |
19: 24,323,731 (GRCm39) |
H406N |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Plcxd3 |
T |
C |
15: 4,546,122 (GRCm39) |
F42S |
possibly damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,940,288 (GRCm39) |
F1056L |
probably benign |
Het |
| Rapgef1 |
T |
C |
2: 29,590,872 (GRCm39) |
|
probably benign |
Het |
| Rdh11 |
G |
A |
12: 79,232,110 (GRCm39) |
|
probably benign |
Het |
| Serac1 |
A |
G |
17: 6,096,021 (GRCm39) |
F576S |
possibly damaging |
Het |
| Slc45a4 |
A |
T |
15: 73,458,664 (GRCm39) |
M295K |
probably benign |
Het |
| Taf1c |
T |
C |
8: 120,325,796 (GRCm39) |
T689A |
probably benign |
Het |
| Timm10b |
G |
T |
7: 105,317,645 (GRCm39) |
|
probably benign |
Het |
| Tle5 |
A |
T |
10: 81,397,126 (GRCm39) |
Q34L |
possibly damaging |
Het |
| Tnc |
A |
T |
4: 63,883,816 (GRCm39) |
|
probably benign |
Het |
| Toporsl |
T |
C |
4: 52,611,114 (GRCm39) |
W336R |
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,291 (GRCm39) |
R220G |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation