Incidental Mutation 'IGL01953:Trim43b'
| ID |
181336 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim43b
|
| Ensembl Gene |
ENSMUSG00000079162 |
| Gene Name |
tripartite motif-containing 43B |
| Synonyms |
Gm8269 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL01953
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
88966677-88974888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88967496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 380
(D380V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126594
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167113]
[ENSMUST00000189557]
|
| AlphaFold |
P86448 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167113
AA Change: D380V
PolyPhen 2
Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126594
Gene: ENSMUSG00000079162
AA Change: D380V
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
9.6e-7 |
SMART |
|
Blast:BBOX
|
88 |
129 |
4e-8 |
BLAST |
|
PDB:2VOK|B
|
329 |
445 |
3e-15 |
PDB |
|
Blast:SPRY
|
336 |
441 |
9e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189557
AA Change: D379V
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139457
Gene: ENSMUSG00000079162
AA Change: D379V
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
4.7e-9 |
SMART |
|
Blast:BBOX
|
88 |
129 |
4e-8 |
BLAST |
|
SPRY
|
334 |
444 |
8.1e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks3 |
G |
A |
16: 4,778,408 (GRCm39) |
A8V |
probably damaging |
Het |
| Atp6v0a4 |
A |
G |
6: 38,031,552 (GRCm39) |
S650P |
probably damaging |
Het |
| B3glct |
C |
A |
5: 149,669,000 (GRCm39) |
D311E |
probably benign |
Het |
| Cc2d1a |
G |
A |
8: 84,870,607 (GRCm39) |
P119S |
probably benign |
Het |
| Cdcp3 |
T |
C |
7: 130,826,709 (GRCm39) |
M261T |
probably benign |
Het |
| Chdh |
T |
C |
14: 29,757,304 (GRCm39) |
V409A |
probably benign |
Het |
| Cipc |
T |
A |
12: 86,999,538 (GRCm39) |
V4E |
possibly damaging |
Het |
| Dock2 |
G |
T |
11: 34,623,183 (GRCm39) |
T70K |
probably benign |
Het |
| Dpf1 |
T |
C |
7: 29,013,732 (GRCm39) |
V269A |
probably damaging |
Het |
| Drc7 |
A |
T |
8: 95,785,753 (GRCm39) |
Y203F |
probably damaging |
Het |
| Dsg3 |
C |
T |
18: 20,658,361 (GRCm39) |
T324I |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Iqcd |
A |
T |
5: 120,738,554 (GRCm39) |
N124I |
probably benign |
Het |
| Kdm7a |
T |
C |
6: 39,123,836 (GRCm39) |
N776S |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,832,497 (GRCm39) |
R1684H |
probably damaging |
Het |
| Lrp12 |
A |
T |
15: 39,741,497 (GRCm39) |
V406D |
probably damaging |
Het |
| Lrrc74a |
T |
A |
12: 86,788,494 (GRCm39) |
L158Q |
probably damaging |
Het |
| Mef2d |
C |
T |
3: 88,063,813 (GRCm39) |
T80I |
probably damaging |
Het |
| Megf11 |
T |
C |
9: 64,597,370 (GRCm39) |
C681R |
probably damaging |
Het |
| Mex3c |
A |
G |
18: 73,723,104 (GRCm39) |
D399G |
probably damaging |
Het |
| Muc20 |
T |
C |
16: 32,614,073 (GRCm39) |
T435A |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,702,838 (GRCm39) |
Y10H |
possibly damaging |
Het |
| Or12d13 |
T |
C |
17: 37,647,766 (GRCm39) |
D119G |
probably damaging |
Het |
| Or4k40 |
A |
G |
2: 111,250,657 (GRCm39) |
L213P |
probably benign |
Het |
| Otoa |
T |
A |
7: 120,759,548 (GRCm39) |
|
probably null |
Het |
| P4ha2 |
T |
C |
11: 54,004,996 (GRCm39) |
F124S |
probably benign |
Het |
| Phkg2 |
C |
T |
7: 127,181,512 (GRCm39) |
P232S |
probably damaging |
Het |
| Piezo1 |
T |
A |
8: 123,217,923 (GRCm39) |
Q800L |
probably damaging |
Het |
| Pign |
C |
A |
1: 105,516,764 (GRCm39) |
|
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,384,997 (GRCm39) |
D634G |
probably benign |
Het |
| Ptpn9 |
A |
G |
9: 56,964,072 (GRCm39) |
T402A |
possibly damaging |
Het |
| Relb |
A |
C |
7: 19,349,482 (GRCm39) |
|
probably null |
Het |
| Scgb1b30 |
A |
G |
7: 33,799,302 (GRCm39) |
Q78R |
probably damaging |
Het |
| Sema6a |
C |
T |
18: 47,423,187 (GRCm39) |
W273* |
probably null |
Het |
| Sestd1 |
A |
G |
2: 77,042,813 (GRCm39) |
V247A |
possibly damaging |
Het |
| Specc1 |
T |
A |
11: 62,009,122 (GRCm39) |
S293T |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,799,721 (GRCm39) |
D2145G |
probably benign |
Het |
| Vmn1r236 |
A |
G |
17: 21,507,473 (GRCm39) |
Y197C |
possibly damaging |
Het |
| Vmn1r79 |
A |
G |
7: 11,910,382 (GRCm39) |
Y88C |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r61 |
G |
A |
7: 41,949,613 (GRCm39) |
V678M |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,042,894 (GRCm39) |
Y1937* |
probably null |
Het |
|
| Other mutations in Trim43b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00485:Trim43b
|
APN |
9 |
88,973,695 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02160:Trim43b
|
APN |
9 |
88,973,683 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02626:Trim43b
|
APN |
9 |
88,967,541 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03199:Trim43b
|
APN |
9 |
88,971,481 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0477:Trim43b
|
UTSW |
9 |
88,972,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1345:Trim43b
|
UTSW |
9 |
88,967,725 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1491:Trim43b
|
UTSW |
9 |
88,969,665 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1536:Trim43b
|
UTSW |
9 |
88,967,411 (GRCm39) |
nonsense |
probably null |
|
|
R1862:Trim43b
|
UTSW |
9 |
88,967,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Trim43b
|
UTSW |
9 |
88,967,302 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4039:Trim43b
|
UTSW |
9 |
88,973,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4222:Trim43b
|
UTSW |
9 |
88,972,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4223:Trim43b
|
UTSW |
9 |
88,972,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4224:Trim43b
|
UTSW |
9 |
88,972,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4726:Trim43b
|
UTSW |
9 |
88,971,538 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4812:Trim43b
|
UTSW |
9 |
88,973,533 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4887:Trim43b
|
UTSW |
9 |
88,973,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5865:Trim43b
|
UTSW |
9 |
88,967,659 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5909:Trim43b
|
UTSW |
9 |
88,967,451 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6226:Trim43b
|
UTSW |
9 |
88,973,328 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6378:Trim43b
|
UTSW |
9 |
88,967,452 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6531:Trim43b
|
UTSW |
9 |
88,967,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7114:Trim43b
|
UTSW |
9 |
88,967,661 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7946:Trim43b
|
UTSW |
9 |
88,973,538 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7972:Trim43b
|
UTSW |
9 |
88,973,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8270:Trim43b
|
UTSW |
9 |
88,967,458 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8887:Trim43b
|
UTSW |
9 |
88,969,642 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9142:Trim43b
|
UTSW |
9 |
88,973,452 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9223:Trim43b
|
UTSW |
9 |
88,967,663 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9370:Trim43b
|
UTSW |
9 |
88,971,559 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9375:Trim43b
|
UTSW |
9 |
88,967,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Trim43b
|
UTSW |
9 |
88,969,642 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9451:Trim43b
|
UTSW |
9 |
88,973,608 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9660:Trim43b
|
UTSW |
9 |
88,973,395 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9728:Trim43b
|
UTSW |
9 |
88,973,395 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9751:Trim43b
|
UTSW |
9 |
88,971,570 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9769:Trim43b
|
UTSW |
9 |
88,967,458 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
V5622:Trim43b
|
UTSW |
9 |
88,974,598 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation