Incidental Mutation 'R6941:Usp54'
ID |
540567 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp54
|
Ensembl Gene |
ENSMUSG00000034235 |
Gene Name |
ubiquitin specific peptidase 54 |
Synonyms |
4930429G18Rik, C030002J06Rik |
MMRRC Submission |
045055-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6941 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
20598980-20691131 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 20612177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 880
(I880L)
|
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: I880L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022356 Gene: ENSMUSG00000034235 AA Change: I880L
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: I880L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000036214 Gene: ENSMUSG00000034235 AA Change: I880L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,140,370 (GRCm39) |
I1557F |
probably damaging |
Het |
Acad10 |
A |
T |
5: 121,787,420 (GRCm39) |
D176E |
probably damaging |
Het |
Acta2 |
A |
T |
19: 34,229,922 (GRCm39) |
V11E |
probably damaging |
Het |
Ampd2 |
T |
C |
3: 107,986,609 (GRCm39) |
H225R |
probably damaging |
Het |
Arfgef3 |
A |
G |
10: 18,501,203 (GRCm39) |
Y1016H |
possibly damaging |
Het |
Atg7 |
C |
T |
6: 114,650,639 (GRCm39) |
T83M |
possibly damaging |
Het |
AU018091 |
A |
G |
7: 3,209,267 (GRCm39) |
|
probably null |
Het |
Birc2 |
A |
G |
9: 7,819,469 (GRCm39) |
V481A |
probably benign |
Het |
Cabp1 |
A |
T |
5: 115,310,960 (GRCm39) |
D295E |
probably damaging |
Het |
Cd180 |
A |
T |
13: 102,842,699 (GRCm39) |
T582S |
probably benign |
Het |
Cnksr3 |
A |
G |
10: 7,076,758 (GRCm39) |
S145P |
probably damaging |
Het |
Ddx27 |
A |
G |
2: 166,857,297 (GRCm39) |
D15G |
possibly damaging |
Het |
Dsc1 |
T |
C |
18: 20,230,246 (GRCm39) |
Y353C |
probably benign |
Het |
Dsg1c |
C |
T |
18: 20,400,980 (GRCm39) |
T161I |
probably damaging |
Het |
Epm2a |
A |
G |
10: 11,266,829 (GRCm39) |
|
probably null |
Het |
Fat2 |
T |
C |
11: 55,152,914 (GRCm39) |
H3766R |
probably benign |
Het |
Fjx1 |
A |
G |
2: 102,280,903 (GRCm39) |
V344A |
probably benign |
Het |
Frmd3 |
A |
G |
4: 74,016,363 (GRCm39) |
I93V |
probably benign |
Het |
Gbe1 |
TAGTAAGAGT |
TAGT |
16: 70,230,444 (GRCm39) |
|
probably benign |
Het |
Gdf15 |
A |
G |
8: 71,082,794 (GRCm39) |
L104P |
possibly damaging |
Het |
Glra3 |
G |
A |
8: 56,393,961 (GRCm39) |
R24Q |
probably benign |
Het |
Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
Ighv1-9 |
A |
T |
12: 114,547,448 (GRCm39) |
M31K |
probably benign |
Het |
Ipmk |
G |
A |
10: 71,183,920 (GRCm39) |
G47S |
probably null |
Het |
Itsn2 |
T |
C |
12: 4,679,641 (GRCm39) |
I150T |
probably benign |
Het |
Kcnq5 |
T |
C |
1: 21,476,068 (GRCm39) |
Y545C |
probably damaging |
Het |
Klk1b8 |
C |
A |
7: 43,602,213 (GRCm39) |
H48Q |
possibly damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Lrrc34 |
T |
C |
3: 30,678,969 (GRCm39) |
Y376C |
probably benign |
Het |
Mast4 |
A |
T |
13: 102,941,222 (GRCm39) |
D278E |
probably damaging |
Het |
Mtmr3 |
T |
C |
11: 4,437,505 (GRCm39) |
Y982C |
possibly damaging |
Het |
Ndst4 |
T |
G |
3: 125,403,160 (GRCm39) |
H422Q |
possibly damaging |
Het |
Nek7 |
T |
C |
1: 138,430,376 (GRCm39) |
E206G |
probably damaging |
Het |
Nufip2 |
CCAGCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAGCAG |
11: 77,577,122 (GRCm39) |
|
probably benign |
Het |
Or5b99 |
T |
A |
19: 12,976,861 (GRCm39) |
N170K |
possibly damaging |
Het |
Pglyrp2 |
T |
C |
17: 32,635,048 (GRCm39) |
Y438C |
probably damaging |
Het |
Pigr |
G |
T |
1: 130,775,064 (GRCm39) |
W497L |
probably damaging |
Het |
Pkd2l2 |
G |
T |
18: 34,549,936 (GRCm39) |
V194L |
probably benign |
Het |
Ppp1r16b |
A |
T |
2: 158,538,068 (GRCm39) |
K5M |
probably damaging |
Het |
Psat1 |
A |
T |
19: 15,898,307 (GRCm39) |
S35R |
probably damaging |
Het |
Qrfprl |
G |
A |
6: 65,424,385 (GRCm39) |
M126I |
probably damaging |
Het |
Rab11fip1 |
G |
A |
8: 27,646,303 (GRCm39) |
Q258* |
probably null |
Het |
Rad51d |
A |
G |
11: 82,780,623 (GRCm39) |
L53P |
probably damaging |
Het |
Rell2 |
G |
A |
18: 38,091,341 (GRCm39) |
A169T |
probably benign |
Het |
Rnf19b |
T |
C |
4: 128,976,572 (GRCm39) |
I545T |
probably benign |
Het |
Slc12a1 |
G |
T |
2: 125,055,999 (GRCm39) |
E843D |
possibly damaging |
Het |
Slc1a4 |
A |
G |
11: 20,254,346 (GRCm39) |
S507P |
probably damaging |
Het |
Slc6a1 |
G |
A |
6: 114,290,473 (GRCm39) |
W316* |
probably null |
Het |
Spesp1 |
A |
G |
9: 62,180,152 (GRCm39) |
L252P |
probably damaging |
Het |
Sphkap |
G |
A |
1: 83,385,811 (GRCm39) |
|
probably benign |
Het |
Srcap |
A |
G |
7: 127,141,769 (GRCm39) |
T1850A |
probably damaging |
Het |
Supv3l1 |
T |
C |
10: 62,266,365 (GRCm39) |
T604A |
possibly damaging |
Het |
Tacr1 |
A |
G |
6: 82,380,846 (GRCm39) |
T86A |
possibly damaging |
Het |
Tenm3 |
T |
C |
8: 49,127,451 (GRCm39) |
R76G |
probably damaging |
Het |
Tmprss6 |
C |
A |
15: 78,330,977 (GRCm39) |
A419S |
probably damaging |
Het |
Wwp2 |
T |
A |
8: 108,275,134 (GRCm39) |
V377D |
probably damaging |
Het |
Zfp735 |
A |
T |
11: 73,581,159 (GRCm39) |
E65D |
probably benign |
Het |
Zfy2 |
T |
C |
Y: 2,121,491 (GRCm39) |
E134G |
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 |
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 |
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'- AACAGCTGTTGTCCTCCCTG -3'
(R):5'- GGGGAATTTATTGTTAGTCAAGGCAC -3'
Sequencing Primer
(F):5'- GCATCTAATGGCAGGCATTC -3'
(R):5'- CACGGTGTGGCTGATTCTCTC -3'
|
Posted On |
2018-11-06 |