Incidental Mutation 'R0350:Usp43'
ID |
29662 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp43
|
Ensembl Gene |
ENSMUSG00000020905 |
Gene Name |
ubiquitin specific peptidase 43 |
Synonyms |
C630032K07Rik |
MMRRC Submission |
038557-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0350 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
67745349-67812979 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67767324 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 682
(Y682C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021288
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021288]
[ENSMUST00000108677]
|
AlphaFold |
Q8BUM9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021288
AA Change: Y682C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021288 Gene: ENSMUSG00000020905 AA Change: Y682C
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
54 |
N/A |
INTRINSIC |
low complexity region
|
59 |
87 |
N/A |
INTRINSIC |
Pfam:UCH
|
100 |
707 |
2.8e-61 |
PFAM |
Pfam:UCH_1
|
101 |
297 |
1.3e-6 |
PFAM |
Pfam:UCH_1
|
503 |
689 |
5.2e-13 |
PFAM |
low complexity region
|
717 |
731 |
N/A |
INTRINSIC |
low complexity region
|
958 |
972 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108677
AA Change: Y677C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104317 Gene: ENSMUSG00000020905 AA Change: Y677C
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
54 |
N/A |
INTRINSIC |
low complexity region
|
59 |
87 |
N/A |
INTRINSIC |
Pfam:UCH
|
100 |
702 |
3.5e-54 |
PFAM |
Pfam:UCH_1
|
101 |
298 |
2.7e-7 |
PFAM |
Pfam:UCH_1
|
503 |
684 |
1.2e-9 |
PFAM |
low complexity region
|
712 |
726 |
N/A |
INTRINSIC |
low complexity region
|
953 |
967 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129961
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd13 |
T |
A |
8: 10,037,600 (GRCm39) |
Y66N |
probably damaging |
Het |
Apol6 |
C |
T |
15: 76,935,147 (GRCm39) |
Q139* |
probably null |
Het |
Armh1 |
C |
A |
4: 117,072,753 (GRCm39) |
E244* |
probably null |
Het |
Cd1d1 |
A |
T |
3: 86,904,880 (GRCm39) |
H219Q |
probably benign |
Het |
Cdca2 |
A |
G |
14: 67,950,568 (GRCm39) |
L121P |
probably benign |
Het |
Cdin1 |
T |
C |
2: 115,607,411 (GRCm39) |
Y255H |
possibly damaging |
Het |
Cog4 |
T |
A |
8: 111,580,328 (GRCm39) |
L133I |
possibly damaging |
Het |
Csf1 |
T |
C |
3: 107,655,922 (GRCm39) |
M370V |
probably benign |
Het |
Ddi2 |
G |
A |
4: 141,412,834 (GRCm39) |
T26M |
probably benign |
Het |
Dhcr7 |
A |
G |
7: 143,391,507 (GRCm39) |
D32G |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,581,706 (GRCm39) |
V16A |
probably benign |
Het |
Exd1 |
T |
C |
2: 119,354,047 (GRCm39) |
N337S |
possibly damaging |
Het |
Flii |
T |
C |
11: 60,612,683 (GRCm39) |
D227G |
probably damaging |
Het |
Hsf1 |
A |
G |
15: 76,384,679 (GRCm39) |
T485A |
probably benign |
Het |
Igfn1 |
G |
A |
1: 135,884,505 (GRCm39) |
R2614* |
probably null |
Het |
Iqch |
T |
C |
9: 63,408,158 (GRCm39) |
T630A |
probably benign |
Het |
Itgal |
T |
A |
7: 126,921,253 (GRCm39) |
D770E |
probably damaging |
Het |
Mroh1 |
T |
A |
15: 76,316,449 (GRCm39) |
V759E |
probably damaging |
Het |
Mrps17 |
A |
G |
5: 129,795,209 (GRCm39) |
|
probably benign |
Het |
Mtpap |
A |
G |
18: 4,396,195 (GRCm39) |
S496G |
possibly damaging |
Het |
Nkd1 |
T |
A |
8: 89,311,844 (GRCm39) |
Y39* |
probably null |
Het |
Nmd3 |
A |
G |
3: 69,650,907 (GRCm39) |
Y359C |
probably damaging |
Het |
Nr1h3 |
G |
A |
2: 91,022,170 (GRCm39) |
L153F |
possibly damaging |
Het |
Nuf2 |
T |
A |
1: 169,341,112 (GRCm39) |
|
probably null |
Het |
Or4b1b |
T |
C |
2: 90,112,926 (GRCm39) |
|
probably null |
Het |
Or4c113 |
T |
A |
2: 88,885,700 (GRCm39) |
K23N |
probably benign |
Het |
Or8b12i |
A |
T |
9: 20,082,032 (GRCm39) |
Y278* |
probably null |
Het |
Pnn |
T |
C |
12: 59,113,903 (GRCm39) |
|
probably null |
Het |
Ppm1j |
A |
G |
3: 104,690,687 (GRCm39) |
D230G |
probably benign |
Het |
Ppp1r15a |
A |
T |
7: 45,172,442 (GRCm39) |
L650Q |
probably damaging |
Het |
Prss37 |
T |
C |
6: 40,491,893 (GRCm39) |
E229G |
probably damaging |
Het |
Rbm19 |
T |
C |
5: 120,266,372 (GRCm39) |
V465A |
possibly damaging |
Het |
Rubcnl |
G |
T |
14: 75,278,331 (GRCm39) |
V372F |
probably damaging |
Het |
Sema6a |
G |
T |
18: 47,403,785 (GRCm39) |
D595E |
probably benign |
Het |
Slc35c1 |
A |
G |
2: 92,289,377 (GRCm39) |
F43S |
probably damaging |
Het |
Slc39a5 |
C |
T |
10: 128,232,619 (GRCm39) |
|
probably null |
Het |
Slco4c1 |
A |
G |
1: 96,756,574 (GRCm39) |
F583L |
probably benign |
Het |
Sox9 |
A |
G |
11: 112,675,702 (GRCm39) |
Y297C |
probably damaging |
Het |
Taf1b |
A |
G |
12: 24,564,884 (GRCm39) |
D167G |
possibly damaging |
Het |
Trpm6 |
T |
C |
19: 18,861,321 (GRCm39) |
|
probably null |
Het |
Uba6 |
A |
C |
5: 86,292,237 (GRCm39) |
V402G |
possibly damaging |
Het |
Vmn1r195 |
A |
G |
13: 22,463,403 (GRCm39) |
D291G |
probably damaging |
Het |
Xpr1 |
A |
T |
1: 155,206,214 (GRCm39) |
F156Y |
probably damaging |
Het |
Yju2b |
C |
T |
8: 84,987,277 (GRCm39) |
E99K |
probably damaging |
Het |
Zfp318 |
T |
A |
17: 46,724,124 (GRCm39) |
H2042Q |
probably benign |
Het |
Zfp937 |
T |
A |
2: 150,081,222 (GRCm39) |
D417E |
possibly damaging |
Het |
|
Other mutations in Usp43 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00902:Usp43
|
APN |
11 |
67,782,245 (GRCm39) |
missense |
probably benign |
0.08 |
IGL01536:Usp43
|
APN |
11 |
67,746,764 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01754:Usp43
|
APN |
11 |
67,747,007 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02057:Usp43
|
APN |
11 |
67,747,113 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02638:Usp43
|
APN |
11 |
67,746,581 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03105:Usp43
|
APN |
11 |
67,770,802 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL03155:Usp43
|
APN |
11 |
67,767,315 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03380:Usp43
|
APN |
11 |
67,766,142 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0207:Usp43
|
UTSW |
11 |
67,767,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R0308:Usp43
|
UTSW |
11 |
67,770,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R0479:Usp43
|
UTSW |
11 |
67,788,100 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1451:Usp43
|
UTSW |
11 |
67,747,007 (GRCm39) |
missense |
probably benign |
0.01 |
R1686:Usp43
|
UTSW |
11 |
67,778,593 (GRCm39) |
missense |
probably damaging |
0.99 |
R1750:Usp43
|
UTSW |
11 |
67,770,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R1956:Usp43
|
UTSW |
11 |
67,795,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R2107:Usp43
|
UTSW |
11 |
67,746,566 (GRCm39) |
frame shift |
probably null |
|
R2108:Usp43
|
UTSW |
11 |
67,746,566 (GRCm39) |
frame shift |
probably null |
|
R2112:Usp43
|
UTSW |
11 |
67,812,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R2162:Usp43
|
UTSW |
11 |
67,770,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R2336:Usp43
|
UTSW |
11 |
67,782,258 (GRCm39) |
nonsense |
probably null |
|
R4031:Usp43
|
UTSW |
11 |
67,804,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R4355:Usp43
|
UTSW |
11 |
67,782,290 (GRCm39) |
missense |
probably benign |
0.01 |
R4410:Usp43
|
UTSW |
11 |
67,746,716 (GRCm39) |
missense |
probably benign |
0.00 |
R4479:Usp43
|
UTSW |
11 |
67,747,233 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4569:Usp43
|
UTSW |
11 |
67,789,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R4569:Usp43
|
UTSW |
11 |
67,766,178 (GRCm39) |
nonsense |
probably null |
|
R4737:Usp43
|
UTSW |
11 |
67,746,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R5395:Usp43
|
UTSW |
11 |
67,788,184 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5466:Usp43
|
UTSW |
11 |
67,804,709 (GRCm39) |
missense |
probably damaging |
0.99 |
R5686:Usp43
|
UTSW |
11 |
67,812,742 (GRCm39) |
unclassified |
probably benign |
|
R6106:Usp43
|
UTSW |
11 |
67,770,733 (GRCm39) |
missense |
probably benign |
0.00 |
R7205:Usp43
|
UTSW |
11 |
67,774,110 (GRCm39) |
missense |
probably null |
1.00 |
R7360:Usp43
|
UTSW |
11 |
67,767,155 (GRCm39) |
splice site |
probably null |
|
R7426:Usp43
|
UTSW |
11 |
67,783,842 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7755:Usp43
|
UTSW |
11 |
67,782,294 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7937:Usp43
|
UTSW |
11 |
67,746,615 (GRCm39) |
missense |
probably damaging |
0.96 |
R8054:Usp43
|
UTSW |
11 |
67,782,284 (GRCm39) |
missense |
probably damaging |
0.96 |
R8410:Usp43
|
UTSW |
11 |
67,747,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R8792:Usp43
|
UTSW |
11 |
67,767,244 (GRCm39) |
nonsense |
probably null |
|
R8865:Usp43
|
UTSW |
11 |
67,789,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R8879:Usp43
|
UTSW |
11 |
67,789,707 (GRCm39) |
splice site |
probably benign |
|
R8906:Usp43
|
UTSW |
11 |
67,782,307 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9287:Usp43
|
UTSW |
11 |
67,770,922 (GRCm39) |
missense |
probably damaging |
0.98 |
R9303:Usp43
|
UTSW |
11 |
67,767,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R9305:Usp43
|
UTSW |
11 |
67,767,345 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Usp43
|
UTSW |
11 |
67,746,866 (GRCm39) |
missense |
probably benign |
0.39 |
Z1176:Usp43
|
UTSW |
11 |
67,812,667 (GRCm39) |
missense |
unknown |
|
Z1177:Usp43
|
UTSW |
11 |
67,812,858 (GRCm39) |
missense |
unknown |
|
Z1177:Usp43
|
UTSW |
11 |
67,746,634 (GRCm39) |
missense |
possibly damaging |
0.56 |
Z1186:Usp43
|
UTSW |
11 |
67,747,332 (GRCm39) |
missense |
probably benign |
0.41 |
Z1186:Usp43
|
UTSW |
11 |
67,746,545 (GRCm39) |
small insertion |
probably benign |
|
Z1187:Usp43
|
UTSW |
11 |
67,747,332 (GRCm39) |
missense |
probably benign |
0.41 |
Z1187:Usp43
|
UTSW |
11 |
67,746,545 (GRCm39) |
small insertion |
probably benign |
|
Z1188:Usp43
|
UTSW |
11 |
67,747,332 (GRCm39) |
missense |
probably benign |
0.41 |
Z1188:Usp43
|
UTSW |
11 |
67,746,545 (GRCm39) |
small insertion |
probably benign |
|
Z1189:Usp43
|
UTSW |
11 |
67,747,332 (GRCm39) |
missense |
probably benign |
0.41 |
Z1189:Usp43
|
UTSW |
11 |
67,746,545 (GRCm39) |
small insertion |
probably benign |
|
Z1190:Usp43
|
UTSW |
11 |
67,747,332 (GRCm39) |
missense |
probably benign |
0.41 |
Z1190:Usp43
|
UTSW |
11 |
67,746,549 (GRCm39) |
small insertion |
probably benign |
|
Z1190:Usp43
|
UTSW |
11 |
67,746,545 (GRCm39) |
small insertion |
probably benign |
|
Z1191:Usp43
|
UTSW |
11 |
67,747,332 (GRCm39) |
missense |
probably benign |
0.41 |
Z1191:Usp43
|
UTSW |
11 |
67,746,545 (GRCm39) |
small insertion |
probably benign |
|
Z1192:Usp43
|
UTSW |
11 |
67,747,332 (GRCm39) |
missense |
probably benign |
0.41 |
Z1192:Usp43
|
UTSW |
11 |
67,746,545 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGCCTTCTATAAATGGACGGCAGG -3'
(R):5'- TCTCAGTATAATCGGGTGAGCGGTG -3'
Sequencing Primer
(F):5'- gtgcggaggtcaaagaaaac -3'
(R):5'- TTCCAGTGAGCAATCCTGGC -3'
|
Posted On |
2013-04-24 |