Incidental Mutation 'IGL00585:Usp54'
| ID |
5905 |
| 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 # |
IGL00585
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
20598980-20691131 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20623905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 651
(S651C)
|
| 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: S651C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: S651C
| 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: S651C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: S651C
| 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 |
probably benign
Transcript: ENSMUST00000123287
|
| SMART Domains |
Protein: ENSMUSP00000117503
Gene: ENSMUSG00000034235
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
198 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124940
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141265
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223899
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225721
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
A |
17: 24,519,294 (GRCm39) |
I664F |
probably damaging |
Het |
| Abcg4 |
A |
T |
9: 44,192,920 (GRCm39) |
M142K |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,104,890 (GRCm39) |
T1198A |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,136,239 (GRCm39) |
S475P |
probably damaging |
Het |
| Ap3s2 |
T |
C |
7: 79,565,824 (GRCm39) |
E34G |
probably benign |
Het |
| C1qtnf9 |
T |
C |
14: 61,017,442 (GRCm39) |
F324S |
probably damaging |
Het |
| Cacng7 |
A |
G |
7: 3,414,547 (GRCm39) |
Y170C |
probably damaging |
Het |
| Ceacam18 |
G |
A |
7: 43,286,435 (GRCm39) |
V103M |
possibly damaging |
Het |
| Chrnb1 |
G |
A |
11: 69,684,742 (GRCm39) |
P144S |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,066,751 (GRCm39) |
H652R |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,450,170 (GRCm39) |
L1948F |
probably damaging |
Het |
| Clstn1 |
A |
T |
4: 149,722,769 (GRCm39) |
H469L |
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,169,047 (GRCm39) |
G594S |
possibly damaging |
Het |
| Ctsq |
A |
T |
13: 61,184,941 (GRCm39) |
D248E |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,903,771 (GRCm39) |
I276K |
possibly damaging |
Het |
| Gbf1 |
G |
A |
19: 46,272,688 (GRCm39) |
|
probably null |
Het |
| Gldn |
T |
A |
9: 54,245,748 (GRCm39) |
I433N |
probably damaging |
Het |
| Gm136 |
T |
A |
4: 34,752,322 (GRCm39) |
E69V |
probably damaging |
Het |
| Gm28177 |
T |
C |
1: 52,121,738 (GRCm39) |
|
probably null |
Het |
| Gtf2h2 |
A |
G |
13: 100,617,506 (GRCm39) |
|
probably benign |
Het |
| Ints12 |
T |
C |
3: 132,806,570 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
T |
C |
7: 27,026,158 (GRCm39) |
D615G |
probably damaging |
Het |
| Mgme1 |
C |
T |
2: 144,113,909 (GRCm39) |
P4S |
probably benign |
Het |
| Nae1 |
A |
G |
8: 105,252,910 (GRCm39) |
|
probably null |
Het |
| Nup133 |
G |
A |
8: 124,636,733 (GRCm39) |
A956V |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,882,711 (GRCm39) |
M529K |
possibly damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,890,683 (GRCm39) |
E519V |
possibly damaging |
Het |
| Pacs1 |
A |
T |
19: 5,203,726 (GRCm39) |
V333E |
probably damaging |
Het |
| Pik3c3 |
T |
G |
18: 30,436,131 (GRCm39) |
|
probably benign |
Het |
| Polh |
C |
T |
17: 46,483,169 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
A |
G |
19: 3,540,826 (GRCm39) |
C431R |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,051,087 (GRCm39) |
S206P |
possibly damaging |
Het |
| Rab20 |
A |
G |
8: 11,504,212 (GRCm39) |
Y163H |
probably benign |
Het |
| Sde2 |
T |
A |
1: 180,683,383 (GRCm39) |
C46S |
possibly damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Spata20 |
T |
G |
11: 94,369,943 (GRCm39) |
L784F |
probably damaging |
Het |
| Tnnt1 |
A |
C |
7: 4,510,549 (GRCm39) |
M224R |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,178,358 (GRCm39) |
F349L |
possibly damaging |
Het |
| Ttf1 |
T |
C |
2: 28,963,895 (GRCm39) |
|
probably benign |
Het |
| Vps45 |
A |
G |
3: 95,907,378 (GRCm39) |
*571R |
probably null |
Het |
| Yod1 |
G |
A |
1: 130,646,870 (GRCm39) |
G249E |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,997,428 (GRCm39) |
Y340C |
probably damaging |
Het |
| Zfp366 |
G |
A |
13: 99,383,080 (GRCm39) |
|
probably benign |
Het |
| Zfp648 |
T |
A |
1: 154,079,935 (GRCm39) |
D31E |
possibly damaging |
Het |
|
| Other mutations in Usp54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation