Incidental Mutation 'R2107:Usp43'
| ID |
232184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp43
|
| Ensembl Gene |
ENSMUSG00000020905 |
| Gene Name |
ubiquitin specific peptidase 43 |
| Synonyms |
C630032K07Rik |
| MMRRC Submission |
040111-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2107 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
67745349-67812979 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GC to G
at 67746566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021288]
[ENSMUST00000108677]
|
| AlphaFold |
Q8BUM9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021288
|
| SMART Domains |
Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
| 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
|
| SMART Domains |
Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,685,744 (GRCm39) |
L364Q |
probably damaging |
Het |
| A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
| Ace2 |
A |
G |
X: 162,923,728 (GRCm39) |
N24S |
probably benign |
Het |
| Acp2 |
G |
A |
2: 91,033,940 (GRCm39) |
|
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Bcas3 |
G |
A |
11: 85,348,704 (GRCm39) |
V199I |
probably damaging |
Het |
| Cblb |
T |
A |
16: 51,973,079 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
T |
12: 100,887,808 (GRCm39) |
D1557E |
probably benign |
Het |
| Cdc20 |
T |
C |
4: 118,290,710 (GRCm39) |
Y430C |
probably damaging |
Het |
| Cdk5rap1 |
C |
T |
2: 154,195,166 (GRCm39) |
D350N |
probably benign |
Het |
| Cgrrf1 |
T |
A |
14: 47,090,833 (GRCm39) |
|
probably benign |
Het |
| Chia1 |
T |
A |
3: 106,036,156 (GRCm39) |
Y185* |
probably null |
Het |
| Cmtm8 |
A |
T |
9: 114,625,176 (GRCm39) |
V85D |
possibly damaging |
Het |
| Cplx4 |
A |
G |
18: 66,089,964 (GRCm39) |
S152P |
probably benign |
Het |
| Crmp1 |
G |
T |
5: 37,399,838 (GRCm39) |
R117L |
probably benign |
Het |
| Csad |
G |
C |
15: 102,087,469 (GRCm39) |
L365V |
probably null |
Het |
| Dyrk1a |
C |
T |
16: 94,487,386 (GRCm39) |
T532M |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fan1 |
T |
G |
7: 64,016,536 (GRCm39) |
R529S |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,737,528 (GRCm39) |
W173R |
probably damaging |
Het |
| Gm9611 |
A |
T |
14: 42,116,611 (GRCm39) |
N42K |
possibly damaging |
Het |
| Gnal |
T |
A |
18: 67,346,649 (GRCm39) |
L257Q |
probably damaging |
Het |
| Hint3 |
A |
T |
10: 30,494,252 (GRCm39) |
F33I |
probably damaging |
Het |
| Ipcef1 |
A |
G |
10: 6,840,501 (GRCm39) |
S403P |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,514,822 (GRCm39) |
N3007S |
probably benign |
Het |
| Kpna3 |
T |
C |
14: 61,607,933 (GRCm39) |
D424G |
possibly damaging |
Het |
| Krt90 |
A |
G |
15: 101,471,064 (GRCm39) |
I66T |
probably benign |
Het |
| Lamc2 |
A |
G |
1: 153,030,132 (GRCm39) |
|
probably benign |
Het |
| Lmtk3 |
G |
T |
7: 45,443,393 (GRCm39) |
C692F |
possibly damaging |
Het |
| Lrguk |
T |
C |
6: 34,039,296 (GRCm39) |
M269T |
probably benign |
Het |
| Lrrc19 |
T |
A |
4: 94,527,531 (GRCm39) |
T227S |
probably benign |
Het |
| Lrrk1 |
C |
A |
7: 65,929,030 (GRCm39) |
D1201Y |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,423,905 (GRCm39) |
Y588N |
probably damaging |
Het |
| Mmp1b |
A |
G |
9: 7,369,310 (GRCm39) |
W346R |
probably damaging |
Het |
| Mpo |
T |
C |
11: 87,686,901 (GRCm39) |
Y177H |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,660,717 (GRCm39) |
K2166R |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,382,636 (GRCm39) |
Y1544H |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,376,742 (GRCm39) |
R1694Q |
probably damaging |
Het |
| Nedd9 |
A |
T |
13: 41,492,455 (GRCm39) |
C12* |
probably null |
Het |
| Neu1 |
G |
A |
17: 35,153,374 (GRCm39) |
R299Q |
probably benign |
Het |
| Nisch |
C |
T |
14: 30,894,097 (GRCm39) |
V172I |
probably damaging |
Het |
| Npy2r |
A |
T |
3: 82,448,436 (GRCm39) |
|
probably null |
Het |
| Ogg1 |
C |
A |
6: 113,306,254 (GRCm39) |
N150K |
probably damaging |
Het |
| Or1j4 |
C |
A |
2: 36,740,355 (GRCm39) |
A99E |
possibly damaging |
Het |
| Or1p1 |
T |
C |
11: 74,180,216 (GRCm39) |
V248A |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,581 (GRCm39) |
S2P |
probably damaging |
Het |
| Pck1 |
G |
C |
2: 172,995,861 (GRCm39) |
E120Q |
probably benign |
Het |
| Pde11a |
A |
G |
2: 76,168,266 (GRCm39) |
V229A |
probably damaging |
Het |
| Pias2 |
T |
C |
18: 77,185,167 (GRCm39) |
F83L |
probably benign |
Het |
| Plagl1 |
A |
C |
10: 13,004,391 (GRCm39) |
|
probably benign |
Het |
| Plin3 |
A |
T |
17: 56,591,391 (GRCm39) |
S130T |
probably benign |
Het |
| Rcc2 |
A |
G |
4: 140,448,496 (GRCm39) |
Y515C |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,124,079 (GRCm39) |
K621E |
possibly damaging |
Het |
| Rnf6 |
G |
A |
5: 146,148,091 (GRCm39) |
T309I |
probably damaging |
Het |
| Rpusd3 |
G |
T |
6: 113,392,523 (GRCm39) |
T335N |
probably damaging |
Het |
| Scn8a |
A |
T |
15: 100,916,244 (GRCm39) |
I1218F |
probably damaging |
Het |
| Slc23a1 |
T |
A |
18: 35,758,879 (GRCm39) |
Q104L |
possibly damaging |
Het |
| Slc34a3 |
A |
T |
2: 25,120,999 (GRCm39) |
V363D |
probably damaging |
Het |
| Smap1 |
A |
T |
1: 23,887,535 (GRCm39) |
M248K |
possibly damaging |
Het |
| Sp1 |
A |
G |
15: 102,318,113 (GRCm39) |
|
probably null |
Het |
| Tasor |
T |
A |
14: 27,183,744 (GRCm39) |
|
probably null |
Het |
| Tbc1d1 |
T |
G |
5: 64,442,048 (GRCm39) |
N689K |
probably benign |
Het |
| Tff2 |
T |
C |
17: 31,361,256 (GRCm39) |
E99G |
possibly damaging |
Het |
| Tjp3 |
T |
C |
10: 81,116,378 (GRCm39) |
N239D |
possibly damaging |
Het |
| Trim37 |
G |
A |
11: 87,050,651 (GRCm39) |
R230Q |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,989,546 (GRCm39) |
M2090T |
probably benign |
Het |
| Unc13a |
T |
C |
8: 72,108,895 (GRCm39) |
|
probably null |
Het |
| Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,157,315 (GRCm39) |
E829G |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,393,762 (GRCm39) |
|
probably benign |
Het |
| Zfp26 |
A |
T |
9: 20,353,533 (GRCm39) |
D85E |
probably benign |
Het |
| Zfp292 |
A |
T |
4: 34,808,593 (GRCm39) |
F1484I |
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 |
|
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'- GGGTGCCATAAGAAATCTGTTCC -3'
(R):5'- AAACTTTAAGGACAGTGGCCC -3'
Sequencing Primer
(F):5'- AATCTGTTCCCCAGGAATGG -3'
(R):5'- CTTACCCAAGATGAAGTCTAAGGCTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation