Incidental Mutation 'R7954:Usp54'
| ID |
649731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp54
|
| Ensembl Gene |
ENSMUSG00000034235 |
| Gene Name |
ubiquitin specific peptidase 54 |
| Synonyms |
4930429G18Rik, C030002J06Rik |
| MMRRC Submission |
045998-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7954 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
20598980-20691131 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20611981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 945
(L945P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022356]
[ENSMUST00000035340]
|
| AlphaFold |
Q8BL06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022356
AA Change: L945P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: L945P
| 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: L945P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: L945P
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,903,169 (GRCm39) |
C409Y |
possibly damaging |
Het |
| Acsm2 |
C |
T |
7: 119,179,952 (GRCm39) |
T390I |
probably damaging |
Het |
| Adam20 |
T |
C |
8: 41,249,581 (GRCm39) |
Y564H |
probably damaging |
Het |
| Adcy6 |
A |
G |
15: 98,494,773 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
C |
6: 85,598,144 (GRCm39) |
V990A |
probably damaging |
Het |
| Anapc2 |
T |
A |
2: 25,164,712 (GRCm39) |
V318E |
probably damaging |
Het |
| Ano6 |
G |
T |
15: 95,863,702 (GRCm39) |
A741S |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,447,321 (GRCm39) |
S1406G |
probably damaging |
Het |
| Cemip2 |
T |
A |
19: 21,770,264 (GRCm39) |
I84N |
probably damaging |
Het |
| Cfi |
G |
A |
3: 129,662,234 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
A |
T |
6: 42,263,625 (GRCm39) |
|
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
| Dnmbp |
A |
T |
19: 43,890,742 (GRCm39) |
W342R |
probably benign |
Het |
| Dok5 |
T |
A |
2: 170,674,993 (GRCm39) |
|
probably null |
Het |
| Eno3 |
T |
C |
11: 70,552,006 (GRCm39) |
I284T |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,816,599 (GRCm39) |
T2767A |
possibly damaging |
Het |
| Epb41l4b |
A |
G |
4: 57,088,034 (GRCm39) |
V162A |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,909,708 (GRCm39) |
I2098T |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,748,767 (GRCm39) |
N384S |
probably benign |
Het |
| Fbxo9 |
A |
G |
9: 78,008,826 (GRCm39) |
L78P |
probably benign |
Het |
| Glis1 |
G |
A |
4: 107,476,854 (GRCm39) |
R525H |
possibly damaging |
Het |
| Gpr15 |
T |
G |
16: 58,539,047 (GRCm39) |
D14A |
probably benign |
Het |
| Gpr156 |
T |
C |
16: 37,807,920 (GRCm39) |
I189T |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,067,283 (GRCm39) |
I376V |
probably benign |
Het |
| Hs6st3 |
T |
C |
14: 120,106,522 (GRCm39) |
V310A |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,513,998 (GRCm39) |
L203P |
probably damaging |
Het |
| Kif26b |
A |
T |
1: 178,696,944 (GRCm39) |
I531F |
probably damaging |
Het |
| Krtcap3 |
T |
C |
5: 31,410,015 (GRCm39) |
L166P |
probably damaging |
Het |
| Lmod1 |
A |
C |
1: 135,252,794 (GRCm39) |
D16A |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,333,867 (GRCm39) |
N1458T |
possibly damaging |
Het |
| Mocs1 |
G |
A |
17: 49,761,799 (GRCm39) |
G631E |
possibly damaging |
Het |
| Nop14 |
G |
A |
5: 34,807,729 (GRCm39) |
P411L |
probably benign |
Het |
| Nr2f1 |
A |
C |
13: 78,338,113 (GRCm39) |
D334E |
probably damaging |
Het |
| Or5al7 |
A |
G |
2: 85,993,212 (GRCm39) |
L27P |
probably damaging |
Het |
| Or5p51 |
T |
C |
7: 107,444,119 (GRCm39) |
N274D |
probably benign |
Het |
| Paqr9 |
G |
A |
9: 95,442,681 (GRCm39) |
V224M |
probably damaging |
Het |
| Pkd2l1 |
T |
C |
19: 44,142,651 (GRCm39) |
T464A |
probably benign |
Het |
| Prss58 |
T |
C |
6: 40,872,543 (GRCm39) |
R188G |
possibly damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,977,454 (GRCm39) |
R1150* |
probably null |
Het |
| Rgs22 |
A |
C |
15: 36,082,148 (GRCm39) |
F653V |
possibly damaging |
Het |
| Spata2 |
T |
C |
2: 167,325,857 (GRCm39) |
T321A |
probably benign |
Het |
| St3gal1 |
A |
T |
15: 66,984,422 (GRCm39) |
F118I |
probably damaging |
Het |
| Styxl2 |
C |
T |
1: 165,926,849 (GRCm39) |
S921N |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,169,481 (GRCm39) |
|
probably null |
Het |
| Tex35 |
C |
T |
1: 156,927,742 (GRCm39) |
D143N |
probably damaging |
Het |
| Tll1 |
G |
A |
8: 64,571,568 (GRCm39) |
T171I |
probably damaging |
Het |
| Umodl1 |
A |
T |
17: 31,205,361 (GRCm39) |
Q652L |
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,234,960 (GRCm39) |
H1263R |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,685,871 (GRCm39) |
M182K |
probably benign |
Het |
| Vmn1r78 |
T |
A |
7: 11,887,227 (GRCm39) |
C279* |
probably null |
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 |
|
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 |
|
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'- GCTGAGCTGATGAACTTGAAG -3'
(R):5'- ACTCATCCCAGAGTCACCTG -3'
Sequencing Primer
(F):5'- GATGAACTTGAAGGACTATTTAGGC -3'
(R):5'- GTTTCATCTGTTTCACAGCACAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation