Incidental Mutation 'R9303:Usp43'
| ID |
705078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp43
|
| Ensembl Gene |
ENSMUSG00000020905 |
| Gene Name |
ubiquitin specific peptidase 43 |
| Synonyms |
C630032K07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9303 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
67745349-67812979 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67767345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 675
(N675S)
|
| 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: N675S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: N675S
| 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: N670S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: N670S
| 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: 98.8%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,126,989 (GRCm39) |
I1227V |
probably benign |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
T |
C |
7: 66,489,645 (GRCm39) |
L21P |
probably damaging |
Het |
| Adcy1 |
T |
C |
11: 7,094,766 (GRCm39) |
V564A |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,748,275 (GRCm39) |
N492D |
probably benign |
Het |
| Aldh1b1 |
G |
A |
4: 45,803,811 (GRCm39) |
V450M |
probably damaging |
Het |
| Arv1 |
T |
A |
8: 125,457,685 (GRCm39) |
H196Q |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,517,163 (GRCm39) |
I390N |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,098,969 (GRCm39) |
I1277V |
|
Het |
| Capn10 |
T |
C |
1: 92,871,665 (GRCm39) |
|
probably null |
Het |
| Casq2 |
A |
G |
3: 102,052,700 (GRCm39) |
D404G |
unknown |
Het |
| Cenpf |
T |
C |
1: 189,392,271 (GRCm39) |
|
probably null |
Het |
| Cep295nl |
G |
A |
11: 118,224,766 (GRCm39) |
P26L |
possibly damaging |
Het |
| Chmp4c |
T |
G |
3: 10,454,974 (GRCm39) |
S214A |
probably benign |
Het |
| Chrna5 |
T |
C |
9: 54,912,156 (GRCm39) |
F319L |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 16,011,532 (GRCm39) |
T2507K |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,967,037 (GRCm39) |
M996T |
probably damaging |
Het |
| Dbf4 |
T |
C |
5: 8,448,102 (GRCm39) |
T328A |
unknown |
Het |
| Ddc |
C |
T |
11: 11,779,132 (GRCm39) |
V331I |
probably benign |
Het |
| Fads2b |
A |
T |
2: 85,330,649 (GRCm39) |
C219* |
probably null |
Het |
| Fat1 |
T |
A |
8: 45,463,498 (GRCm39) |
W1347R |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,986,727 (GRCm39) |
F51L |
probably benign |
Het |
| Gng2 |
G |
T |
14: 19,925,961 (GRCm39) |
H44N |
probably damaging |
Het |
| Hps5 |
G |
A |
7: 46,438,619 (GRCm39) |
T38I |
possibly damaging |
Het |
| Igf2 |
G |
A |
7: 142,208,153 (GRCm39) |
R64C |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 82,759,758 (GRCm39) |
A601V |
probably damaging |
Het |
| Kdm2a |
A |
G |
19: 4,395,606 (GRCm39) |
Y342H |
probably benign |
Het |
| Kidins220 |
C |
A |
12: 25,107,110 (GRCm39) |
T1430K |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,898,829 (GRCm39) |
C177R |
possibly damaging |
Het |
| Krt32 |
T |
C |
11: 99,972,029 (GRCm39) |
T440A |
probably benign |
Het |
| Kynu |
T |
A |
2: 43,569,768 (GRCm39) |
F350Y |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,973,137 (GRCm39) |
L1568P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,618,574 (GRCm39) |
S281T |
|
Het |
| Or2y3 |
A |
T |
17: 38,393,629 (GRCm39) |
V80D |
probably damaging |
Het |
| Or5h23 |
A |
G |
16: 58,906,802 (GRCm39) |
S15P |
probably benign |
Het |
| Or8c19-ps1 |
C |
T |
9: 38,220,463 (GRCm39) |
T124M |
probably benign |
Het |
| Orc3 |
G |
A |
4: 34,607,181 (GRCm39) |
R50* |
probably null |
Het |
| Osbpl6 |
T |
A |
2: 76,378,716 (GRCm39) |
D124E |
probably damaging |
Het |
| Parp4 |
TG |
T |
14: 56,832,790 (GRCm39) |
|
probably null |
Het |
| Parp4 |
T |
C |
14: 56,852,224 (GRCm39) |
|
probably null |
Het |
| Pcdhb18 |
A |
C |
18: 37,625,004 (GRCm39) |
H778P |
probably benign |
Het |
| Polg |
A |
T |
7: 79,105,860 (GRCm39) |
Y710N |
probably benign |
Het |
| Ppp2r2b |
C |
A |
18: 42,779,025 (GRCm39) |
R370L |
possibly damaging |
Het |
| Raet1e |
C |
T |
10: 22,057,872 (GRCm39) |
T213I |
possibly damaging |
Het |
| Reln |
T |
A |
5: 22,193,705 (GRCm39) |
S1418C |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,285,689 (GRCm39) |
S427G |
probably benign |
Het |
| Rhobtb2 |
G |
A |
14: 70,025,376 (GRCm39) |
H633Y |
probably damaging |
Het |
| Serpina3i |
T |
C |
12: 104,234,881 (GRCm39) |
V404A |
probably damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,526,769 (GRCm39) |
|
probably null |
Het |
| Sorl1 |
G |
T |
9: 41,900,739 (GRCm39) |
Q1658K |
probably damaging |
Het |
| Tmem26 |
G |
A |
10: 68,559,816 (GRCm39) |
W29* |
probably null |
Het |
| Togaram2 |
A |
G |
17: 71,996,408 (GRCm39) |
E137G |
probably damaging |
Het |
| Ttc39b |
A |
G |
4: 83,151,023 (GRCm39) |
L524S |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,268,439 (GRCm39) |
L10P |
possibly damaging |
Het |
| Zbtb1 |
G |
A |
12: 76,432,773 (GRCm39) |
R253Q |
probably damaging |
Het |
| Zfp354b |
T |
A |
11: 50,820,256 (GRCm39) |
R36S |
probably 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 |
|
|
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 |
|
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'- TTCTGAGCTAGCTGTGGCAC -3'
(R):5'- ACCTTGTATCTTAAGGCCCTGTG -3'
Sequencing Primer
(F):5'- TGGCACACACCTCTCATGGAG -3'
(R):5'- TTCCAGTGAGCAATCCTGGCTAAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation