Incidental Mutation 'IGL02400:Trim43a'
| ID |
291850 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim43a
|
| Ensembl Gene |
ENSMUSG00000090693 |
| Gene Name |
tripartite motif-containing 43A |
| Synonyms |
Gm6021 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
IGL02400
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
88462944-88470872 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88464165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 25
(N25K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164661]
[ENSMUST00000215498]
[ENSMUST00000216686]
|
| AlphaFold |
Q3TL54 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164661
AA Change: N25K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127527
Gene: ENSMUSG00000090693
AA Change: N25K
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
9.6e-7 |
SMART |
|
Blast:BBOX
|
88 |
129 |
1e-7 |
BLAST |
|
PDB:2VOK|B
|
328 |
445 |
5e-14 |
PDB |
|
Blast:SPRY
|
335 |
441 |
1e-19 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216686
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
A |
G |
10: 76,290,644 (GRCm39) |
I128V |
possibly damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,522,005 (GRCm39) |
Q674K |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,798,849 (GRCm39) |
N851K |
probably benign |
Het |
| Chrna7 |
A |
G |
7: 62,749,070 (GRCm39) |
C471R |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Egflam |
T |
A |
15: 7,276,534 (GRCm39) |
K544M |
probably benign |
Het |
| Erbb3 |
A |
C |
10: 128,415,393 (GRCm39) |
N385K |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,160,589 (GRCm39) |
R1388G |
probably damaging |
Het |
| Gm10720 |
C |
A |
9: 3,016,900 (GRCm39) |
|
probably null |
Het |
| Gm20489 |
A |
T |
X: 100,306,944 (GRCm39) |
N328K |
possibly damaging |
Het |
| Gm5828 |
G |
T |
1: 16,840,042 (GRCm39) |
|
noncoding transcript |
Het |
| Gnaq |
T |
C |
19: 16,293,492 (GRCm39) |
Y145H |
probably damaging |
Het |
| Itgbl1 |
A |
G |
14: 124,083,938 (GRCm39) |
D148G |
probably damaging |
Het |
| Myc |
T |
G |
15: 61,861,760 (GRCm39) |
|
probably benign |
Het |
| Or10d5 |
A |
G |
9: 39,861,635 (GRCm39) |
V144A |
probably benign |
Het |
| Or5m3b |
A |
T |
2: 85,872,420 (GRCm39) |
I254F |
probably benign |
Het |
| Or6c211 |
A |
G |
10: 129,505,752 (GRCm39) |
V212A |
probably damaging |
Het |
| Padi3 |
T |
G |
4: 140,516,179 (GRCm39) |
K567T |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,111,748 (GRCm39) |
T1576A |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,291,728 (GRCm39) |
R1316G |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,620,130 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
G |
A |
10: 8,609,411 (GRCm39) |
R713* |
probably null |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Tnfsf4 |
T |
A |
1: 161,223,276 (GRCm39) |
C42S |
possibly damaging |
Het |
| Tpp1 |
A |
G |
7: 105,396,238 (GRCm39) |
I487T |
possibly damaging |
Het |
| Tuft1 |
T |
C |
3: 94,542,809 (GRCm39) |
|
probably benign |
Het |
| Usp46 |
T |
C |
5: 74,197,713 (GRCm39) |
H26R |
probably benign |
Het |
| Zfp560 |
A |
T |
9: 20,261,896 (GRCm39) |
I85N |
possibly damaging |
Het |
|
| Other mutations in Trim43a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02864:Trim43a
|
APN |
9 |
88,470,165 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0114:Trim43a
|
UTSW |
9 |
88,466,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0436:Trim43a
|
UTSW |
9 |
88,470,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Trim43a
|
UTSW |
9 |
88,466,389 (GRCm39) |
nonsense |
probably null |
|
|
R0682:Trim43a
|
UTSW |
9 |
88,464,199 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0709:Trim43a
|
UTSW |
9 |
88,464,199 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0727:Trim43a
|
UTSW |
9 |
88,464,199 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1237:Trim43a
|
UTSW |
9 |
88,465,042 (GRCm39) |
intron |
probably benign |
|
|
R1239:Trim43a
|
UTSW |
9 |
88,465,042 (GRCm39) |
intron |
probably benign |
|
|
R1445:Trim43a
|
UTSW |
9 |
88,465,042 (GRCm39) |
intron |
probably benign |
|
|
R1448:Trim43a
|
UTSW |
9 |
88,464,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Trim43a
|
UTSW |
9 |
88,470,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1925:Trim43a
|
UTSW |
9 |
88,464,371 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1992:Trim43a
|
UTSW |
9 |
88,466,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2074:Trim43a
|
UTSW |
9 |
88,468,147 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3927:Trim43a
|
UTSW |
9 |
88,465,042 (GRCm39) |
intron |
probably benign |
|
|
R3930:Trim43a
|
UTSW |
9 |
88,465,131 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4418:Trim43a
|
UTSW |
9 |
88,464,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5488:Trim43a
|
UTSW |
9 |
88,464,229 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5489:Trim43a
|
UTSW |
9 |
88,464,229 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6498:Trim43a
|
UTSW |
9 |
88,464,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6742:Trim43a
|
UTSW |
9 |
88,470,399 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7535:Trim43a
|
UTSW |
9 |
88,470,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7539:Trim43a
|
UTSW |
9 |
88,465,096 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7580:Trim43a
|
UTSW |
9 |
88,465,042 (GRCm39) |
intron |
probably benign |
|
|
R7943:Trim43a
|
UTSW |
9 |
88,464,238 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8073:Trim43a
|
UTSW |
9 |
88,464,490 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8983:Trim43a
|
UTSW |
9 |
88,464,404 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9030:Trim43a
|
UTSW |
9 |
88,465,042 (GRCm39) |
intron |
probably benign |
|
|
R9646:Trim43a
|
UTSW |
9 |
88,466,392 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2015-04-16 |
Incidental Mutation