Incidental Mutation 'R6183:Usp54'
| ID |
487636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp54
|
| Ensembl Gene |
ENSMUSG00000034235 |
| Gene Name |
ubiquitin specific peptidase 54 |
| Synonyms |
C030002J06Rik, 4930429G18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6183 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
20548912-20641063 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20552245 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 1346
(R1346G)
|
| 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: R1346G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: R1346G
| 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: R1346G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: R1346G
| 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: ENSMUST00000128848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141265
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142099
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930548H24Rik |
T |
C |
5: 31,487,976 |
Y358H |
probably damaging |
Het |
| 5830411N06Rik |
A |
G |
7: 140,296,034 |
T404A |
possibly damaging |
Het |
| Abcb4 |
T |
A |
5: 8,918,718 |
D352E |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,094,370 |
I972L |
probably damaging |
Het |
| Alg3 |
T |
C |
16: 20,610,641 |
Y33C |
probably benign |
Het |
| Atp1a3 |
C |
T |
7: 24,981,752 |
G816D |
probably damaging |
Het |
| Ces1g |
C |
T |
8: 93,331,239 |
V145M |
possibly damaging |
Het |
| Clip1 |
A |
G |
5: 123,642,604 |
S339P |
probably damaging |
Het |
| Col2a1 |
G |
T |
15: 97,988,790 |
T378N |
unknown |
Het |
| Dennd4b |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
3: 90,275,568 |
|
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,861,769 |
L3207Q |
probably damaging |
Het |
| Efcab5 |
T |
C |
11: 77,137,258 |
T416A |
probably benign |
Het |
| Ephb1 |
A |
T |
9: 102,195,325 |
I85N |
probably damaging |
Het |
| Etnppl |
T |
C |
3: 130,620,317 |
C22R |
probably damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,299,877 |
T11A |
probably benign |
Het |
| Gm5458 |
C |
A |
14: 19,599,644 |
V171L |
probably damaging |
Het |
| Helb |
G |
T |
10: 120,112,998 |
|
probably null |
Het |
| Hnrnpll |
A |
G |
17: 80,049,876 |
V237A |
possibly damaging |
Het |
| Hps3 |
T |
C |
3: 20,008,868 |
T712A |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,306,030 |
E78G |
possibly damaging |
Het |
| Ighv1-62-2 |
G |
A |
12: 115,446,436 |
A111V |
probably damaging |
Het |
| Igkv4-63 |
G |
T |
6: 69,378,124 |
Q58K |
probably damaging |
Het |
| Iqcg |
T |
C |
16: 33,030,923 |
Y226C |
probably damaging |
Het |
| Khdc1a |
A |
T |
1: 21,350,108 |
D30V |
possibly damaging |
Het |
| Krtap5-5 |
C |
A |
7: 142,229,787 |
C42F |
unknown |
Het |
| Lmod3 |
T |
C |
6: 97,252,553 |
N7D |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 46,850,685 |
N165S |
probably benign |
Het |
| Ms4a4c |
A |
G |
19: 11,426,229 |
T192A |
possibly damaging |
Het |
| Ncald |
A |
T |
15: 37,397,232 |
V68D |
probably damaging |
Het |
| Olfr1507 |
T |
A |
14: 52,490,731 |
T78S |
probably benign |
Het |
| Pcdhgb7 |
A |
T |
18: 37,752,262 |
I162F |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,588,852 |
T4A |
possibly damaging |
Het |
| Qrich2 |
T |
A |
11: 116,458,129 |
|
probably benign |
Het |
| Rgl1 |
C |
T |
1: 152,586,570 |
E60K |
possibly damaging |
Het |
| Rtn1 |
A |
T |
12: 72,408,491 |
W21R |
probably benign |
Het |
| Spast |
A |
G |
17: 74,373,358 |
I438M |
probably damaging |
Het |
| Sptbn5 |
C |
T |
2: 120,059,417 |
|
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,975 |
Q228H |
unknown |
Het |
| Tas1r1 |
A |
G |
4: 152,032,541 |
I212T |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,275,425 |
N439D |
probably damaging |
Het |
| Tjp2 |
C |
T |
19: 24,100,791 |
A913T |
probably damaging |
Het |
| Tnfrsf26 |
A |
G |
7: 143,611,757 |
L47P |
probably damaging |
Het |
| Unc13a |
A |
T |
8: 71,644,666 |
S1195T |
probably damaging |
Het |
| Vmn1r54 |
T |
A |
6: 90,269,290 |
M62K |
possibly damaging |
Het |
| Vmn2r125 |
A |
T |
4: 156,350,069 |
D50V |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,995,558 |
D548G |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,443,930 |
N470K |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 11,147,370 |
I633N |
possibly damaging |
Het |
|
| Other mutations in Usp54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Usp54
|
APN |
14 |
20,573,837 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01090:Usp54
|
APN |
14 |
20,586,157 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02030:Usp54
|
APN |
14 |
20,565,946 (GRCm38) |
missense |
probably benign |
0.44 |
|
IGL02333:Usp54
|
APN |
14 |
20,589,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02642:Usp54
|
APN |
14 |
20,565,072 (GRCm38) |
splice site |
probably benign |
|
|
IGL02970:Usp54
|
APN |
14 |
20,577,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03371:Usp54
|
APN |
14 |
20,589,368 (GRCm38) |
unclassified |
probably benign |
|
|
BB003:Usp54
|
UTSW |
14 |
20,576,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB013:Usp54
|
UTSW |
14 |
20,576,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0050:Usp54
|
UTSW |
14 |
20,573,755 (GRCm38) |
unclassified |
probably benign |
|
|
R0383:Usp54
|
UTSW |
14 |
20,561,252 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0427:Usp54
|
UTSW |
14 |
20,570,364 (GRCm38) |
missense |
probably benign |
|
|
R0442:Usp54
|
UTSW |
14 |
20,607,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0574:Usp54
|
UTSW |
14 |
20,556,254 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0638:Usp54
|
UTSW |
14 |
20,589,369 (GRCm38) |
unclassified |
probably benign |
|
|
R0789:Usp54
|
UTSW |
14 |
20,562,157 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1272:Usp54
|
UTSW |
14 |
20,561,110 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1463:Usp54
|
UTSW |
14 |
20,550,190 (GRCm38) |
missense |
probably benign |
0.15 |
|
R1565:Usp54
|
UTSW |
14 |
20,607,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1721:Usp54
|
UTSW |
14 |
20,583,440 (GRCm38) |
nonsense |
probably null |
|
|
R1922:Usp54
|
UTSW |
14 |
20,560,904 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2068:Usp54
|
UTSW |
14 |
20,577,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2216:Usp54
|
UTSW |
14 |
20,561,840 (GRCm38) |
missense |
probably benign |
|
|
R2285:Usp54
|
UTSW |
14 |
20,561,178 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R2426:Usp54
|
UTSW |
14 |
20,564,940 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3855:Usp54
|
UTSW |
14 |
20,588,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3856:Usp54
|
UTSW |
14 |
20,588,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3907:Usp54
|
UTSW |
14 |
20,586,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4367:Usp54
|
UTSW |
14 |
20,561,134 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4384:Usp54
|
UTSW |
14 |
20,550,085 (GRCm38) |
splice site |
probably null |
|
|
R4555:Usp54
|
UTSW |
14 |
20,561,022 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4617:Usp54
|
UTSW |
14 |
20,550,338 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4659:Usp54
|
UTSW |
14 |
20,564,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4672:Usp54
|
UTSW |
14 |
20,581,529 (GRCm38) |
intron |
probably benign |
|
|
R4928:Usp54
|
UTSW |
14 |
20,562,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5381:Usp54
|
UTSW |
14 |
20,586,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5408:Usp54
|
UTSW |
14 |
20,550,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5630:Usp54
|
UTSW |
14 |
20,565,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5841:Usp54
|
UTSW |
14 |
20,550,283 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5886:Usp54
|
UTSW |
14 |
20,561,842 (GRCm38) |
missense |
probably benign |
0.28 |
|
R5922:Usp54
|
UTSW |
14 |
20,552,071 (GRCm38) |
splice site |
probably null |
|
|
R5975:Usp54
|
UTSW |
14 |
20,583,351 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6074:Usp54
|
UTSW |
14 |
20,552,099 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6234:Usp54
|
UTSW |
14 |
20,583,450 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6303:Usp54
|
UTSW |
14 |
20,560,968 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6304:Usp54
|
UTSW |
14 |
20,560,968 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6695:Usp54
|
UTSW |
14 |
20,560,869 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6774:Usp54
|
UTSW |
14 |
20,577,228 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6941:Usp54
|
UTSW |
14 |
20,562,109 (GRCm38) |
missense |
probably benign |
|
|
R7133:Usp54
|
UTSW |
14 |
20,561,242 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7196:Usp54
|
UTSW |
14 |
20,588,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7409:Usp54
|
UTSW |
14 |
20,552,245 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7424:Usp54
|
UTSW |
14 |
20,577,040 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7859:Usp54
|
UTSW |
14 |
20,588,136 (GRCm38) |
missense |
probably benign |
0.24 |
|
R7926:Usp54
|
UTSW |
14 |
20,576,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7954:Usp54
|
UTSW |
14 |
20,561,913 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8489:Usp54
|
UTSW |
14 |
20,561,536 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8745:Usp54
|
UTSW |
14 |
20,562,108 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8775:Usp54
|
UTSW |
14 |
20,588,398 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8775-TAIL:Usp54
|
UTSW |
14 |
20,588,398 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9080:Usp54
|
UTSW |
14 |
20,562,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9121:Usp54
|
UTSW |
14 |
20,581,455 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9139:Usp54
|
UTSW |
14 |
20,577,094 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9433:Usp54
|
UTSW |
14 |
20,561,610 (GRCm38) |
missense |
probably benign |
|
|
R9613:Usp54
|
UTSW |
14 |
20,550,370 (GRCm38) |
missense |
probably damaging |
0.97 |
|
RF004:Usp54
|
UTSW |
14 |
20,561,300 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
X0024:Usp54
|
UTSW |
14 |
20,577,251 (GRCm38) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGAGGTATACTGATTTGACCC -3'
(R):5'- AGGCATTTCCTAGGAAGGCC -3'
Sequencing Primer
(F):5'- CTGATTTGACCCTGAAAAAGAATGAC -3'
(R):5'- CATCCTGCCATGTTAACC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation