Incidental Mutation 'R7755:Usp43'
| ID |
597510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp43
|
| Ensembl Gene |
ENSMUSG00000020905 |
| Gene Name |
ubiquitin specific peptidase 43 |
| Synonyms |
C630032K07Rik |
| MMRRC Submission |
045811-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7755 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
67745349-67812979 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67782294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 375
(S375T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021288]
[ENSMUST00000108677]
|
| AlphaFold |
Q8BUM9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021288
AA Change: S375T
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: S375T
| 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 |
possibly damaging
Transcript: ENSMUST00000108677
AA Change: S375T
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: S375T
| 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 |
|
| Meta Mutation Damage Score |
0.1655 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,236,187 (GRCm39) |
M1179I |
probably benign |
Het |
| 4930402F06Rik |
T |
C |
2: 35,266,349 (GRCm39) |
Y107C |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,289,206 (GRCm39) |
S452P |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,712,795 (GRCm39) |
D615G |
probably damaging |
Het |
| Begain |
A |
G |
12: 109,018,802 (GRCm39) |
L215P |
probably benign |
Het |
| Carf |
T |
A |
1: 60,187,214 (GRCm39) |
S606T |
probably benign |
Het |
| Cngb3 |
A |
T |
4: 19,461,684 (GRCm39) |
T522S |
probably benign |
Het |
| Ctsll3 |
A |
T |
13: 60,948,219 (GRCm39) |
F153I |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,284,889 (GRCm39) |
T3509I |
probably benign |
Het |
| Dmrta1 |
T |
C |
4: 89,580,170 (GRCm39) |
S377P |
probably benign |
Het |
| Dnmbp |
G |
A |
19: 43,838,525 (GRCm39) |
A659V |
probably benign |
Het |
| Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,326,227 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,015,490 (GRCm39) |
D3598G |
probably benign |
Het |
| Elp1 |
T |
C |
4: 56,774,552 (GRCm39) |
N779S |
possibly damaging |
Het |
| Flot2 |
T |
C |
11: 77,940,339 (GRCm39) |
F29L |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,849,003 (GRCm39) |
I367K |
possibly damaging |
Het |
| Ivl |
T |
A |
3: 92,479,317 (GRCm39) |
K249N |
probably damaging |
Het |
| Khnyn |
A |
G |
14: 56,125,425 (GRCm39) |
T503A |
probably damaging |
Het |
| Mbd4 |
T |
A |
6: 115,821,546 (GRCm39) |
I490F |
probably damaging |
Het |
| Mlip |
T |
C |
9: 77,136,838 (GRCm39) |
T690A |
probably benign |
Het |
| Mmp1a |
T |
A |
9: 7,467,005 (GRCm39) |
D227E |
possibly damaging |
Het |
| Mrgprf |
T |
C |
7: 144,862,380 (GRCm39) |
L314P |
probably damaging |
Het |
| Ndufb9 |
T |
G |
15: 58,808,255 (GRCm39) |
Y80* |
probably null |
Het |
| Neto2 |
C |
T |
8: 86,396,285 (GRCm39) |
R155H |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,470,470 (GRCm39) |
N365K |
possibly damaging |
Het |
| Nsl1 |
G |
A |
1: 190,795,380 (GRCm39) |
V49M |
probably benign |
Het |
| Nudt21 |
T |
A |
8: 94,749,493 (GRCm39) |
Y191F |
probably benign |
Het |
| Or2w25 |
A |
G |
11: 59,504,467 (GRCm39) |
R226G |
probably damaging |
Het |
| Or8b54 |
T |
G |
9: 38,687,073 (GRCm39) |
I174S |
possibly damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,709,278 (GRCm39) |
Y679C |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,356,798 (GRCm39) |
D741G |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,617,717 (GRCm39) |
D956G |
probably damaging |
Het |
| Poglut2 |
T |
C |
1: 44,157,733 (GRCm39) |
|
probably benign |
Het |
| Pparg |
C |
T |
6: 115,440,067 (GRCm39) |
P214S |
probably damaging |
Het |
| Ppargc1a |
T |
A |
5: 51,630,883 (GRCm39) |
Y582F |
unknown |
Het |
| Prdm9 |
C |
T |
17: 15,765,226 (GRCm39) |
C518Y |
probably damaging |
Het |
| Rangrf |
T |
A |
11: 68,864,540 (GRCm39) |
E2V |
probably damaging |
Het |
| Rpl19 |
T |
C |
11: 97,919,193 (GRCm39) |
I45T |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,702,807 (GRCm39) |
D255G |
possibly damaging |
Het |
| Shld2 |
T |
C |
14: 33,970,847 (GRCm39) |
K627E |
probably damaging |
Het |
| Sirt3 |
T |
C |
7: 140,457,963 (GRCm39) |
D62G |
|
Het |
| Slc22a30 |
T |
C |
19: 8,314,133 (GRCm39) |
T518A |
probably damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,950,466 (GRCm39) |
T329A |
probably damaging |
Het |
| Slc6a17 |
C |
T |
3: 107,381,671 (GRCm39) |
G470D |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,044,181 (GRCm39) |
I3923L |
probably benign |
Het |
| Tiam2 |
C |
T |
17: 3,471,591 (GRCm39) |
S411L |
probably benign |
Het |
| Ticam1 |
A |
G |
17: 56,577,182 (GRCm39) |
C638R |
unknown |
Het |
| Tnrc6c |
A |
G |
11: 117,648,912 (GRCm39) |
T1528A |
probably benign |
Het |
| Ufl1 |
A |
G |
4: 25,262,274 (GRCm39) |
I404T |
probably benign |
Het |
| Vmn2r88 |
C |
G |
14: 51,650,503 (GRCm39) |
A72G |
probably benign |
Het |
| Vmn2r91 |
A |
T |
17: 18,330,311 (GRCm39) |
I532F |
possibly damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,644,367 (GRCm39) |
M1T |
probably null |
Het |
| Xirp2 |
T |
C |
2: 67,345,526 (GRCm39) |
V2589A |
probably benign |
Het |
| Zfp128 |
C |
T |
7: 12,624,240 (GRCm39) |
Q203* |
probably null |
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 |
|
R0350:Usp43
|
UTSW |
11 |
67,767,324 (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 |
|
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'- GGCAAGCACAGGTCTACAAATC -3'
(R):5'- CGCAGGTTATTTCAGGTTGCC -3'
Sequencing Primer
(F):5'- GGTCTACAAATCCCACTTACCACATG -3'
(R):5'- TGAAATCTTCTAATCAAACTCAGGCC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation