Incidental Mutation 'R8792:Usp43'
| ID |
671005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp43
|
| Ensembl Gene |
ENSMUSG00000020905 |
| Gene Name |
ubiquitin specific peptidase 43 |
| Synonyms |
C630032K07Rik |
| MMRRC Submission |
068635-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8792 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
67745349-67812979 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 67767244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 709
(K709*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021288]
[ENSMUST00000108677]
|
| AlphaFold |
Q8BUM9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021288
AA Change: K709*
|
| SMART Domains |
Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: K709*
| 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 null
Transcript: ENSMUST00000108677
AA Change: K704*
|
| SMART Domains |
Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: K704*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
T |
C |
15: 81,793,697 (GRCm39) |
I382T |
probably damaging |
Het |
| Adam39 |
G |
T |
8: 41,279,613 (GRCm39) |
R668L |
probably benign |
Het |
| Adam6b |
T |
C |
12: 113,455,310 (GRCm39) |
I709T |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,836,522 (GRCm39) |
E692G |
probably damaging |
Het |
| Asxl2 |
T |
C |
12: 3,546,536 (GRCm39) |
L440P |
probably benign |
Het |
| Atosb |
G |
A |
4: 43,033,546 (GRCm39) |
P536S |
probably damaging |
Het |
| Bmf |
A |
G |
2: 118,377,386 (GRCm39) |
F121L |
probably damaging |
Het |
| Cblif |
C |
A |
19: 11,727,599 (GRCm39) |
A141E |
probably damaging |
Het |
| Cdk9 |
A |
T |
2: 32,598,269 (GRCm39) |
F262L |
probably benign |
Het |
| Clock |
T |
A |
5: 76,410,574 (GRCm39) |
D99V |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,642,189 (GRCm39) |
T102S |
|
Het |
| Eps15 |
T |
C |
4: 109,162,908 (GRCm39) |
V67A |
probably benign |
Het |
| Fam171b |
T |
A |
2: 83,643,103 (GRCm39) |
L4H |
probably damaging |
Het |
| Fcho2 |
T |
A |
13: 98,951,769 (GRCm39) |
|
probably benign |
Het |
| Gal3st4 |
C |
T |
5: 138,269,251 (GRCm39) |
V70M |
probably damaging |
Het |
| Garin2 |
C |
T |
12: 78,761,924 (GRCm39) |
T196M |
probably damaging |
Het |
| Got1l1 |
C |
A |
8: 27,690,749 (GRCm39) |
|
probably null |
Het |
| Gpr146 |
A |
G |
5: 139,378,549 (GRCm39) |
Y117C |
probably damaging |
Het |
| Gpr158 |
G |
A |
2: 21,558,137 (GRCm39) |
V346M |
probably damaging |
Het |
| Herc1 |
C |
A |
9: 66,372,768 (GRCm39) |
P3108Q |
probably damaging |
Het |
| Hoxc9 |
A |
G |
15: 102,890,226 (GRCm39) |
S48G |
probably benign |
Het |
| I830077J02Rik |
T |
C |
3: 105,835,104 (GRCm39) |
|
probably benign |
Het |
| Ift70a1 |
C |
A |
2: 75,811,898 (GRCm39) |
E62* |
probably null |
Het |
| Lama4 |
T |
G |
10: 38,924,048 (GRCm39) |
I485M |
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,325,300 (GRCm39) |
T1375I |
possibly damaging |
Het |
| Lrp6 |
T |
C |
6: 134,463,549 (GRCm39) |
Y544C |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,821,773 (GRCm39) |
Q692* |
probably null |
Het |
| Mark2 |
G |
T |
19: 7,258,580 (GRCm39) |
H570N |
probably benign |
Het |
| Mlph |
T |
C |
1: 90,870,682 (GRCm39) |
|
probably benign |
Het |
| Mnx1 |
G |
A |
5: 29,683,372 (GRCm39) |
|
probably benign |
Het |
| Nkx2-2 |
A |
T |
2: 147,019,813 (GRCm39) |
V208E |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,050,919 (GRCm39) |
I1058V |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,963,047 (GRCm39) |
I877T |
probably damaging |
Het |
| Olfml2b |
A |
T |
1: 170,508,669 (GRCm39) |
N509I |
possibly damaging |
Het |
| Or1e27-ps1 |
T |
C |
11: 73,555,471 (GRCm39) |
L12P |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,024,231 (GRCm39) |
Y49C |
probably benign |
Het |
| Or4f14b |
G |
C |
2: 111,775,073 (GRCm39) |
H243D |
probably damaging |
Het |
| Pabpc6 |
T |
C |
17: 9,888,332 (GRCm39) |
N73S |
probably damaging |
Het |
| Parp12 |
A |
G |
6: 39,065,984 (GRCm39) |
F580L |
probably benign |
Het |
| Parvg |
C |
A |
15: 84,213,160 (GRCm39) |
H80Q |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,541 (GRCm39) |
V549A |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,179,534 (GRCm39) |
H374L |
probably benign |
Het |
| Pgap4 |
T |
C |
4: 49,587,067 (GRCm39) |
T34A |
possibly damaging |
Het |
| Phf2 |
C |
T |
13: 48,970,981 (GRCm39) |
|
probably benign |
Het |
| Pld4 |
T |
C |
12: 112,729,924 (GRCm39) |
F69L |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,347,456 (GRCm39) |
I1123V |
unknown |
Het |
| Rida |
C |
T |
15: 34,495,242 (GRCm39) |
V8M |
possibly damaging |
Het |
| Rnf19b |
T |
A |
4: 128,952,478 (GRCm39) |
C139S |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,095,091 (GRCm39) |
I1254M |
unknown |
Het |
| Rpl3l |
A |
G |
17: 24,947,447 (GRCm39) |
T2A |
possibly damaging |
Het |
| Serpinb6e |
A |
T |
13: 34,022,942 (GRCm39) |
I147N |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,673,390 (GRCm39) |
T727I |
probably damaging |
Het |
| Slc25a16 |
C |
T |
10: 62,764,119 (GRCm39) |
R59* |
probably null |
Het |
| Strc |
T |
A |
2: 121,208,286 (GRCm39) |
I362F |
probably damaging |
Het |
| Tbc1d5 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
17: 51,106,962 (GRCm39) |
|
probably benign |
Het |
| Tll1 |
T |
A |
8: 64,538,499 (GRCm39) |
T382S |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,328,328 (GRCm39) |
D556V |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,401,099 (GRCm39) |
|
probably null |
Het |
| Vcan |
A |
T |
13: 89,840,230 (GRCm39) |
N1771K |
possibly damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,659,669 (GRCm39) |
I81V |
probably benign |
Het |
| Zxdc |
A |
G |
6: 90,346,986 (GRCm39) |
T116A |
probably benign |
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 |
|
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'- CAGAAGACTCTTCATTTTCTCTGG -3'
(R):5'- GAGAGCATCTTCCTGCCTTG -3'
Sequencing Primer
(F):5'- TGTGTCCCAATAGCACATGTG -3'
(R):5'- TATGACGACAGCACAGTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation