Incidental Mutation 'R8865:Usp43'
ID |
675877 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp43
|
Ensembl Gene |
ENSMUSG00000020905 |
Gene Name |
ubiquitin specific peptidase 43 |
Synonyms |
C630032K07Rik |
MMRRC Submission |
068681-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8865 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
67745349-67812979 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 67789788 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 252
(C252F)
|
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: C252F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021288 Gene: ENSMUSG00000020905 AA Change: C252F
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: C252F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104317 Gene: ENSMUSG00000020905 AA Change: C252F
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (72/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
T |
A |
11: 50,672,571 (GRCm39) |
Y606* |
probably null |
Het |
Adgrb1 |
A |
G |
15: 74,415,507 (GRCm39) |
I696V |
possibly damaging |
Het |
Ass1 |
A |
G |
2: 31,410,407 (GRCm39) |
Q406R |
probably benign |
Het |
Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
Ccdc148 |
T |
C |
2: 58,719,832 (GRCm39) |
K409R |
possibly damaging |
Het |
Ccnl1 |
A |
T |
3: 65,854,269 (GRCm39) |
S451T |
probably benign |
Het |
Cdc123 |
T |
C |
2: 5,800,235 (GRCm39) |
|
probably benign |
Het |
Cep192 |
T |
C |
18: 67,967,703 (GRCm39) |
V729A |
probably benign |
Het |
Chd6 |
G |
A |
2: 160,862,989 (GRCm39) |
A444V |
probably benign |
Het |
Chl1 |
A |
G |
6: 103,685,822 (GRCm39) |
K898E |
probably damaging |
Het |
Chrng |
T |
C |
1: 87,135,219 (GRCm39) |
V154A |
probably damaging |
Het |
Cog1 |
T |
G |
11: 113,549,324 (GRCm39) |
M799R |
probably benign |
Het |
Col4a3 |
G |
A |
1: 82,647,483 (GRCm39) |
|
probably null |
Het |
Coro6 |
C |
A |
11: 77,359,917 (GRCm39) |
T366K |
probably damaging |
Het |
Cwh43 |
G |
A |
5: 73,598,702 (GRCm39) |
M640I |
probably benign |
Het |
Cyp2c55 |
A |
G |
19: 39,019,878 (GRCm39) |
E272G |
probably benign |
Het |
Cyp4f39 |
A |
G |
17: 32,702,271 (GRCm39) |
Y256C |
probably damaging |
Het |
Dbx2 |
G |
A |
15: 95,530,281 (GRCm39) |
R229* |
probably null |
Het |
Dcdc2a |
C |
T |
13: 25,386,266 (GRCm39) |
A380V |
probably benign |
Het |
En1 |
G |
T |
1: 120,530,729 (GRCm39) |
|
probably benign |
Het |
F3 |
T |
A |
3: 121,523,060 (GRCm39) |
V90E |
probably damaging |
Het |
Fam171a1 |
A |
G |
2: 3,226,940 (GRCm39) |
K691R |
probably damaging |
Het |
Foxp2 |
C |
T |
6: 15,415,093 (GRCm39) |
A609V |
unknown |
Het |
Hemgn |
A |
T |
4: 46,396,682 (GRCm39) |
S185T |
possibly damaging |
Het |
Hk1 |
C |
T |
10: 62,151,294 (GRCm39) |
D33N |
probably benign |
Het |
Igfbp1 |
T |
A |
11: 7,151,929 (GRCm39) |
V244D |
probably damaging |
Het |
Insr |
A |
T |
8: 3,211,358 (GRCm39) |
D1160E |
probably damaging |
Het |
Irs1 |
A |
T |
1: 82,265,830 (GRCm39) |
Y795* |
probably null |
Het |
Krtap28-10 |
T |
C |
1: 83,019,808 (GRCm39) |
K111E |
unknown |
Het |
Lbx1 |
T |
G |
19: 45,223,605 (GRCm39) |
D21A |
probably benign |
Het |
Map6 |
G |
T |
7: 98,918,192 (GRCm39) |
A322S |
probably benign |
Het |
Mat1a |
T |
C |
14: 40,843,788 (GRCm39) |
Y336H |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 12,930,003 (GRCm39) |
I8V |
probably benign |
Het |
Med12l |
T |
C |
3: 58,979,303 (GRCm39) |
V276A |
probably benign |
Het |
Mettl17 |
A |
G |
14: 52,122,308 (GRCm39) |
|
probably benign |
Het |
Mllt1 |
T |
C |
17: 57,207,295 (GRCm39) |
D183G |
possibly damaging |
Het |
Msmb |
T |
A |
14: 31,872,217 (GRCm39) |
C69* |
probably null |
Het |
Mterf1a |
A |
G |
5: 3,941,425 (GRCm39) |
S148P |
probably damaging |
Het |
Mybl2 |
A |
G |
2: 162,922,653 (GRCm39) |
I583V |
probably benign |
Het |
Nbr1 |
T |
A |
11: 101,455,520 (GRCm39) |
D91E |
probably benign |
Het |
Notch3 |
A |
G |
17: 32,341,090 (GRCm39) |
Y2221H |
probably benign |
Het |
Npat |
C |
A |
9: 53,481,940 (GRCm39) |
T1216N |
probably benign |
Het |
Or14j6 |
T |
C |
17: 38,215,115 (GRCm39) |
L226P |
probably damaging |
Het |
Or2j3 |
T |
A |
17: 38,615,872 (GRCm39) |
H160L |
probably damaging |
Het |
Or8k35 |
C |
A |
2: 86,424,744 (GRCm39) |
V143F |
possibly damaging |
Het |
Pawr |
T |
A |
10: 108,218,603 (GRCm39) |
Y170N |
probably damaging |
Het |
Pde12 |
T |
C |
14: 26,390,280 (GRCm39) |
D143G |
possibly damaging |
Het |
Phactr2 |
A |
G |
10: 13,129,476 (GRCm39) |
I264T |
probably benign |
Het |
Pip5k1b |
A |
G |
19: 24,374,422 (GRCm39) |
L53P |
probably damaging |
Het |
Pknox1 |
T |
C |
17: 31,818,520 (GRCm39) |
I251T |
probably benign |
Het |
Plcxd1 |
A |
T |
5: 110,249,841 (GRCm39) |
|
probably benign |
Het |
Polr3c |
C |
T |
3: 96,622,517 (GRCm39) |
|
probably benign |
Het |
Pramel4 |
G |
C |
4: 143,795,052 (GRCm39) |
G483R |
probably damaging |
Het |
Prdm10 |
T |
C |
9: 31,238,693 (GRCm39) |
L195P |
probably damaging |
Het |
Prss16 |
A |
T |
13: 22,187,175 (GRCm39) |
L465Q |
possibly damaging |
Het |
Psg25 |
G |
T |
7: 18,263,519 (GRCm39) |
H101Q |
possibly damaging |
Het |
Pstpip2 |
A |
G |
18: 77,934,108 (GRCm39) |
D55G |
possibly damaging |
Het |
Rfc1 |
A |
T |
5: 65,436,135 (GRCm39) |
D636E |
possibly damaging |
Het |
Scarf2 |
G |
T |
16: 17,620,974 (GRCm39) |
C214F |
probably damaging |
Het |
Sirt4 |
T |
C |
5: 115,620,704 (GRCm39) |
E156G |
probably damaging |
Het |
Spag6 |
C |
T |
2: 18,738,928 (GRCm39) |
S286L |
probably benign |
Het |
Stx17 |
T |
A |
4: 48,183,444 (GRCm39) |
H267Q |
unknown |
Het |
Tekt3 |
T |
C |
11: 62,961,058 (GRCm39) |
C76R |
probably benign |
Het |
Tln1 |
A |
T |
4: 43,538,281 (GRCm39) |
V1807E |
possibly damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,396,372 (GRCm39) |
D552G |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,560,664 (GRCm39) |
V29246L |
possibly damaging |
Het |
Vmn2r16 |
T |
C |
5: 109,487,910 (GRCm39) |
I261T |
probably benign |
Het |
Vwa5b1 |
T |
C |
4: 138,308,530 (GRCm39) |
E769G |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,873,246 (GRCm39) |
F670Y |
probably benign |
Het |
Ypel1 |
T |
C |
16: 16,915,269 (GRCm39) |
N113S |
probably benign |
Het |
Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
Zdhhc14 |
A |
T |
17: 5,775,570 (GRCm39) |
Y274F |
possibly damaging |
Het |
Zeb2 |
T |
A |
2: 44,886,139 (GRCm39) |
M973L |
probably benign |
Het |
Zfp638 |
T |
C |
6: 83,954,035 (GRCm39) |
V1380A |
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 |
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 |
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 |
|
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 |
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Predicted Primers |
PCR Primer
(F):5'- CTTAGAGACAGCTAAGTGAAAATGG -3'
(R):5'- AAAAGCGATTCATGTGTTTTGGG -3'
Sequencing Primer
(F):5'- CTAAGTGAAAATGGCAGCTCC -3'
(R):5'- ACTTGACATATTTCCGGGGAC -3'
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Posted On |
2021-07-15 |