Incidental Mutation 'R5381:Usp54'
ID |
424746 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp54
|
Ensembl Gene |
ENSMUSG00000034235 |
Gene Name |
ubiquitin specific peptidase 54 |
Synonyms |
4930429G18Rik, C030002J06Rik |
MMRRC Submission |
042956-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5381 (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 20636144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 300
(G300D)
|
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: G300D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022356 Gene: ENSMUSG00000034235 AA Change: G300D
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: G300D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036214 Gene: ENSMUSG00000034235 AA Change: G300D
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: ENSMUST00000127342
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143267
|
Meta Mutation Damage Score |
0.8887 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (74/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700086D15Rik |
G |
T |
11: 65,044,137 (GRCm39) |
S19* |
probably null |
Het |
4930432E11Rik |
A |
T |
7: 29,262,393 (GRCm39) |
|
noncoding transcript |
Het |
Acvr1c |
T |
C |
2: 58,177,747 (GRCm39) |
T241A |
probably damaging |
Het |
Ankmy1 |
T |
C |
1: 92,804,284 (GRCm39) |
T900A |
probably benign |
Het |
Anp32a |
A |
C |
9: 62,279,459 (GRCm39) |
E107A |
probably damaging |
Het |
Arhgef40 |
T |
C |
14: 52,229,306 (GRCm39) |
I623T |
probably damaging |
Het |
Camsap3 |
T |
A |
8: 3,653,812 (GRCm39) |
I483N |
probably damaging |
Het |
Card9 |
G |
A |
2: 26,248,895 (GRCm39) |
L85F |
probably damaging |
Het |
Cbfa2t2 |
T |
G |
2: 154,365,849 (GRCm39) |
V353G |
probably damaging |
Het |
Ccdc166 |
A |
T |
15: 75,852,701 (GRCm39) |
L422* |
probably null |
Het |
Ccdc198 |
T |
C |
14: 49,470,364 (GRCm39) |
D185G |
probably damaging |
Het |
Ccdc73 |
A |
T |
2: 104,820,270 (GRCm39) |
N416Y |
probably damaging |
Het |
Celsr2 |
A |
T |
3: 108,310,073 (GRCm39) |
D1552E |
probably damaging |
Het |
Ces1b |
A |
T |
8: 93,791,647 (GRCm39) |
N317K |
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,703,334 (GRCm39) |
R2471G |
unknown |
Het |
Crocc |
C |
T |
4: 140,756,622 (GRCm39) |
R1165H |
possibly damaging |
Het |
Csmd3 |
T |
A |
15: 47,604,611 (GRCm39) |
Y1955F |
probably benign |
Het |
Ctbp1 |
A |
T |
5: 33,407,034 (GRCm39) |
D232E |
probably benign |
Het |
Cuedc1 |
T |
A |
11: 88,078,812 (GRCm39) |
|
probably null |
Het |
Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
Dusp6 |
G |
A |
10: 99,102,129 (GRCm39) |
V226I |
possibly damaging |
Het |
Gpr152 |
A |
G |
19: 4,192,516 (GRCm39) |
E19G |
probably damaging |
Het |
Ighv16-1 |
T |
C |
12: 114,032,593 (GRCm39) |
T70A |
probably benign |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Il12b |
C |
A |
11: 44,298,699 (GRCm39) |
D51E |
possibly damaging |
Het |
Il9r |
T |
G |
11: 32,140,715 (GRCm39) |
D435A |
probably benign |
Het |
Jakmip2 |
T |
C |
18: 43,715,025 (GRCm39) |
D167G |
probably damaging |
Het |
Klrd1 |
A |
G |
6: 129,572,397 (GRCm39) |
D63G |
possibly damaging |
Het |
Lactb |
A |
G |
9: 66,863,297 (GRCm39) |
L439P |
probably damaging |
Het |
Laptm5 |
T |
C |
4: 130,660,969 (GRCm39) |
|
probably benign |
Het |
Lgals1 |
A |
G |
15: 78,814,223 (GRCm39) |
D96G |
probably benign |
Het |
Lrp8 |
A |
T |
4: 107,726,307 (GRCm39) |
H871L |
probably damaging |
Het |
Mfap4 |
A |
T |
11: 61,378,756 (GRCm39) |
I235F |
probably benign |
Het |
Muc6 |
G |
A |
7: 141,217,836 (GRCm39) |
T2279I |
possibly damaging |
Het |
Nlrp4b |
T |
A |
7: 10,449,172 (GRCm39) |
Y91* |
probably null |
Het |
Osbp2 |
A |
G |
11: 3,655,593 (GRCm39) |
Y383H |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Palb2 |
G |
T |
7: 121,727,636 (GRCm39) |
T78K |
probably benign |
Het |
Panx2 |
G |
T |
15: 88,944,433 (GRCm39) |
V53L |
probably damaging |
Het |
Pip4p1 |
T |
C |
14: 51,166,495 (GRCm39) |
E161G |
probably benign |
Het |
Pitx1 |
T |
C |
13: 55,973,892 (GRCm39) |
Y313C |
probably damaging |
Het |
Pjvk |
A |
G |
2: 76,481,904 (GRCm39) |
|
probably null |
Het |
Pnldc1 |
T |
G |
17: 13,109,283 (GRCm39) |
K439T |
probably benign |
Het |
Ppp4r4 |
A |
C |
12: 103,559,357 (GRCm39) |
T513P |
probably benign |
Het |
Pram1 |
A |
T |
17: 33,860,600 (GRCm39) |
Q389L |
probably damaging |
Het |
Prg4 |
T |
C |
1: 150,330,204 (GRCm39) |
|
probably benign |
Het |
Prkch |
C |
A |
12: 73,738,366 (GRCm39) |
R158S |
probably damaging |
Het |
Ptpn7 |
A |
T |
1: 135,070,906 (GRCm39) |
M332L |
probably damaging |
Het |
Rad51c |
A |
T |
11: 87,288,459 (GRCm39) |
D241E |
probably benign |
Het |
Rara |
T |
G |
11: 98,862,410 (GRCm39) |
I270M |
possibly damaging |
Het |
Ryr2 |
T |
A |
13: 11,571,544 (GRCm39) |
D4898V |
probably damaging |
Het |
Sec31b |
C |
T |
19: 44,522,810 (GRCm39) |
G218S |
probably damaging |
Het |
Slc9a1 |
T |
A |
4: 133,149,382 (GRCm39) |
L736Q |
probably damaging |
Het |
Slco2a1 |
A |
T |
9: 102,945,213 (GRCm39) |
D196V |
probably damaging |
Het |
Sp3 |
C |
A |
2: 72,800,910 (GRCm39) |
A368S |
probably benign |
Het |
Stk24 |
A |
T |
14: 121,531,645 (GRCm39) |
L337Q |
possibly damaging |
Het |
Tbc1d13 |
A |
G |
2: 30,027,379 (GRCm39) |
T96A |
probably benign |
Het |
Tm2d3 |
G |
A |
7: 65,351,420 (GRCm39) |
G225S |
probably damaging |
Het |
Urb2 |
T |
C |
8: 124,756,651 (GRCm39) |
V786A |
probably benign |
Het |
Usp32 |
C |
T |
11: 84,949,953 (GRCm39) |
|
probably benign |
Het |
Vmn1r124 |
T |
A |
7: 20,994,323 (GRCm39) |
N74Y |
probably damaging |
Het |
Vmn1r77 |
T |
A |
7: 11,775,952 (GRCm39) |
C175S |
probably damaging |
Het |
Vmn2r62 |
G |
T |
7: 42,437,219 (GRCm39) |
Q422K |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,874,496 (GRCm39) |
F827S |
probably damaging |
Het |
Vps52 |
A |
G |
17: 34,177,275 (GRCm39) |
S106G |
possibly damaging |
Het |
Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
Zic2 |
A |
G |
14: 122,713,227 (GRCm39) |
N47S |
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 |
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'- TGTATGCCTTACCAACACTGTAAC -3'
(R):5'- CCATAGCCTTTCAGTGTTGGG -3'
Sequencing Primer
(F):5'- TTACCAACACTGTAACAACCATTC -3'
(R):5'- GTAGTCTCAGCACTCAGAAGTCTG -3'
|
Posted On |
2016-08-04 |