Incidental Mutation 'R0427:Usp54'
| ID |
38779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp54
|
| Ensembl Gene |
ENSMUSG00000034235 |
| Gene Name |
ubiquitin specific peptidase 54 |
| Synonyms |
4930429G18Rik, C030002J06Rik |
| MMRRC Submission |
038629-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0427 (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 G
at 20620432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 691
(V691A)
|
| 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: V691A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: V691A
| 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: V691A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: V691A
| 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: ENSMUST00000141265
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223899
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225721
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
G |
8: 44,105,493 (GRCm39) |
T51P |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,464,720 (GRCm39) |
V1186E |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,296,423 (GRCm39) |
D102G |
probably damaging |
Het |
| Armc2 |
A |
G |
10: 41,876,406 (GRCm39) |
I127T |
possibly damaging |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,084 (GRCm39) |
L87P |
probably damaging |
Het |
| Atp9a |
T |
A |
2: 168,482,617 (GRCm39) |
|
probably null |
Het |
| BC048679 |
C |
G |
7: 81,144,993 (GRCm39) |
V123L |
probably benign |
Het |
| Birc7 |
G |
A |
2: 180,571,307 (GRCm39) |
|
probably null |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| Cacna1d |
T |
A |
14: 30,068,774 (GRCm39) |
N155I |
probably damaging |
Het |
| Cd300lg |
T |
C |
11: 101,933,852 (GRCm39) |
V33A |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,352,041 (GRCm39) |
D742G |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,681,578 (GRCm39) |
N14S |
probably benign |
Het |
| Cfap74 |
A |
T |
4: 155,525,734 (GRCm39) |
M728L |
probably benign |
Het |
| Ctsll3 |
T |
A |
13: 60,949,205 (GRCm39) |
T9S |
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,716,412 (GRCm39) |
S393P |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,642,632 (GRCm39) |
L150* |
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,343,705 (GRCm39) |
I2868T |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,389,585 (GRCm39) |
H505R |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,733,519 (GRCm39) |
K781R |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,566,211 (GRCm39) |
Y459H |
probably damaging |
Het |
| Foxp1 |
C |
T |
6: 98,907,164 (GRCm39) |
D540N |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,615,034 (GRCm39) |
Y698* |
probably null |
Het |
| Gm5141 |
T |
C |
13: 62,922,525 (GRCm39) |
K215E |
probably damaging |
Het |
| Grik5 |
C |
A |
7: 24,757,923 (GRCm39) |
R386L |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,185,647 (GRCm39) |
S620R |
possibly damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,131,180 (GRCm39) |
M518L |
probably benign |
Het |
| Lrrcc1 |
G |
T |
3: 14,623,416 (GRCm39) |
A748S |
probably damaging |
Het |
| Mbd5 |
T |
G |
2: 49,169,091 (GRCm39) |
S1191A |
probably benign |
Het |
| Med27 |
T |
C |
2: 29,390,283 (GRCm39) |
I70T |
probably damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,163,908 (GRCm39) |
Y176H |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,149,479 (GRCm39) |
D1737G |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,081,478 (GRCm39) |
D1021G |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,301,746 (GRCm39) |
E212G |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,133,896 (GRCm39) |
N3362K |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,134,081 (GRCm39) |
S3301P |
probably damaging |
Het |
| Neurod1 |
T |
G |
2: 79,284,526 (GRCm39) |
K286Q |
probably damaging |
Het |
| Noc3l |
T |
C |
19: 38,778,095 (GRCm39) |
Q773R |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,171,398 (GRCm39) |
N420K |
probably benign |
Het |
| Olfml3 |
A |
T |
3: 103,644,330 (GRCm39) |
V113E |
probably benign |
Het |
| Opa1 |
T |
C |
16: 29,430,279 (GRCm39) |
V439A |
probably damaging |
Het |
| Or13c7 |
A |
G |
4: 43,854,417 (GRCm39) |
Y36C |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,520 (GRCm39) |
H21L |
probably benign |
Het |
| Or1j14 |
C |
T |
2: 36,417,994 (GRCm39) |
S190L |
probably damaging |
Het |
| Or1o11 |
T |
A |
17: 37,756,593 (GRCm39) |
D60E |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,818 (GRCm39) |
S383P |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,812,476 (GRCm39) |
V3803A |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,914,235 (GRCm39) |
D1319G |
probably benign |
Het |
| Polq |
T |
A |
16: 36,882,355 (GRCm39) |
C1227* |
probably null |
Het |
| Pramel22 |
A |
T |
4: 143,380,993 (GRCm39) |
N343K |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,085,487 (GRCm39) |
F283L |
probably damaging |
Het |
| Psmd8 |
T |
C |
7: 28,875,552 (GRCm39) |
N189S |
probably damaging |
Het |
| Ptger4 |
G |
A |
15: 5,272,382 (GRCm39) |
T104I |
probably benign |
Het |
| Ptpro |
T |
G |
6: 137,345,294 (GRCm39) |
V100G |
possibly damaging |
Het |
| Rab11fip1 |
T |
A |
8: 27,644,520 (GRCm39) |
T422S |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,570,891 (GRCm39) |
L1143P |
possibly damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,072 (GRCm39) |
M308T |
probably damaging |
Het |
| Sbsn |
T |
A |
7: 30,451,523 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,424,044 (GRCm39) |
T487S |
probably benign |
Het |
| Sema4c |
C |
A |
1: 36,592,892 (GRCm39) |
E109* |
probably null |
Het |
| Sipa1l2 |
A |
T |
8: 126,207,071 (GRCm39) |
L544Q |
probably damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,288,702 (GRCm39) |
T603A |
probably benign |
Het |
| Tbc1d7 |
T |
A |
13: 43,306,563 (GRCm39) |
T138S |
probably benign |
Het |
| Timd4 |
A |
T |
11: 46,710,084 (GRCm39) |
T239S |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,066,498 (GRCm39) |
S743P |
probably damaging |
Het |
| Tspan10 |
T |
A |
11: 120,335,120 (GRCm39) |
Y77N |
probably damaging |
Het |
| Ttc14 |
T |
C |
3: 33,857,633 (GRCm39) |
S245P |
probably damaging |
Het |
| Ttf1 |
T |
A |
2: 28,955,054 (GRCm39) |
S139R |
probably benign |
Het |
| Tubd1 |
C |
A |
11: 86,448,616 (GRCm39) |
Q279K |
possibly damaging |
Het |
| Twnk |
A |
G |
19: 44,996,026 (GRCm39) |
E153G |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,132,478 (GRCm39) |
D900G |
probably damaging |
Het |
| Usp8 |
T |
C |
2: 126,559,952 (GRCm39) |
|
probably benign |
Het |
| Vmn1r231 |
C |
T |
17: 21,110,490 (GRCm39) |
V142I |
probably benign |
Het |
| Vmn2r15 |
C |
T |
5: 109,434,953 (GRCm39) |
A584T |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,467,008 (GRCm39) |
S164P |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,280,770 (GRCm39) |
Y233C |
probably benign |
Het |
| Vwf |
C |
G |
6: 125,650,902 (GRCm39) |
H2511D |
probably benign |
Het |
| Wipf3 |
T |
G |
6: 54,460,882 (GRCm39) |
L110R |
possibly damaging |
Het |
| Zfp945 |
T |
A |
17: 23,084,226 (GRCm39) |
N11I |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTTGTGCTCCCGCAACTAAGAC -3'
(R):5'- CTCCAAGGGAAAATGGCATCGTGAC -3'
Sequencing Primer
(F):5'- ggaaatgcagatggttgtgag -3'
(R):5'- CATCGTGACCATAAGGTTAACAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation