Incidental Mutation 'IGL03199:Trim43b'
| ID |
412939 |
| 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: 0.070)
|
| Stock # |
IGL03199
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
88966677-88974888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 88971481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 225
(Q225P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126594
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167113]
[ENSMUST00000189557]
|
| AlphaFold |
P86448 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167113
AA Change: Q225P
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126594
Gene: ENSMUSG00000079162
AA Change: Q225P
| 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 |
possibly damaging
Transcript: ENSMUST00000189557
AA Change: Q224P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139457
Gene: ENSMUSG00000079162
AA Change: Q224P
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,946,556 (GRCm39) |
I151T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,479 (GRCm39) |
M1904K |
possibly damaging |
Het |
| Chsy3 |
T |
A |
18: 59,309,473 (GRCm39) |
F242Y |
probably damaging |
Het |
| Cwf19l2 |
G |
A |
9: 3,477,830 (GRCm39) |
G845D |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,167,670 (GRCm39) |
I244T |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,894,761 (GRCm39) |
Q3499L |
probably benign |
Het |
| Fat3 |
A |
G |
9: 16,288,344 (GRCm39) |
V393A |
possibly damaging |
Het |
| Fcamr |
T |
A |
1: 130,740,655 (GRCm39) |
V358D |
probably damaging |
Het |
| Fndc3c1 |
T |
A |
X: 105,479,993 (GRCm39) |
K696N |
possibly damaging |
Het |
| Igkv2-112 |
G |
A |
6: 68,197,000 (GRCm39) |
M12I |
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,156 (GRCm39) |
M308T |
probably benign |
Het |
| Map4k1 |
A |
G |
7: 28,682,842 (GRCm39) |
E16G |
probably damaging |
Het |
| Myl7 |
C |
T |
11: 5,848,205 (GRCm39) |
G50R |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,382,856 (GRCm39) |
L229H |
probably damaging |
Het |
| Or10d4b |
A |
G |
9: 39,535,240 (GRCm39) |
I272V |
probably benign |
Het |
| Prkcz |
A |
G |
4: 155,357,441 (GRCm39) |
F157L |
possibly damaging |
Het |
| Sult2a1 |
C |
A |
7: 13,566,585 (GRCm39) |
G130V |
probably damaging |
Het |
| Trim27 |
G |
A |
13: 21,375,421 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
A |
G |
5: 87,054,739 (GRCm39) |
L14P |
unknown |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,220 (GRCm39) |
S157T |
possibly damaging |
Het |
| Vmn2r38 |
A |
T |
7: 9,078,375 (GRCm39) |
V669D |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,365,611 (GRCm39) |
S15P |
probably benign |
Het |
| Zfp422 |
T |
C |
6: 116,603,912 (GRCm39) |
Q29R |
probably benign |
Het |
| Zfp623 |
C |
T |
15: 75,819,119 (GRCm39) |
A25V |
probably benign |
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 |
|
IGL01953:Trim43b
|
APN |
9 |
88,967,496 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation