Incidental Mutation 'IGL02864:Trim43a'
| ID |
362289 |
| 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 # |
IGL02864
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
88462944-88470872 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88470165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 324
(R324C)
|
| 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: R324C
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000127527
Gene: ENSMUSG00000090693
AA Change: R324C
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,937,080 (GRCm39) |
R347G |
probably damaging |
Het |
| Actl11 |
G |
A |
9: 107,806,186 (GRCm39) |
A170T |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,440,670 (GRCm39) |
D241G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,835,308 (GRCm39) |
W745R |
probably damaging |
Het |
| Arhgef7 |
G |
A |
8: 11,865,247 (GRCm39) |
V401I |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,773,663 (GRCm39) |
V1709A |
probably benign |
Het |
| Ccl20 |
T |
C |
1: 83,095,799 (GRCm39) |
|
probably null |
Het |
| Cd209d |
C |
T |
8: 3,927,122 (GRCm39) |
V48I |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,374,548 (GRCm39) |
N1559S |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,951,829 (GRCm39) |
Y1890C |
probably damaging |
Het |
| Dsel |
A |
T |
1: 111,786,944 (GRCm39) |
M1197K |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,288,938 (GRCm39) |
S259T |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,764,349 (GRCm39) |
G672D |
probably damaging |
Het |
| Fhod1 |
C |
T |
8: 106,063,796 (GRCm39) |
|
probably benign |
Het |
| Gstk1 |
A |
G |
6: 42,224,687 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Gtpbp2 |
G |
A |
17: 46,476,520 (GRCm39) |
C282Y |
probably benign |
Het |
| Hapln3 |
A |
T |
7: 78,767,812 (GRCm39) |
W113R |
probably benign |
Het |
| Ifng |
A |
G |
10: 118,278,561 (GRCm39) |
Y74C |
probably damaging |
Het |
| Kyat1 |
C |
A |
2: 30,082,089 (GRCm39) |
|
probably benign |
Het |
| Las1l |
A |
T |
X: 94,991,446 (GRCm39) |
D308E |
possibly damaging |
Het |
| Mdh1b |
T |
A |
1: 63,760,762 (GRCm39) |
T100S |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,338,806 (GRCm39) |
M810K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,543,685 (GRCm39) |
D593G |
probably damaging |
Het |
| Pnma5 |
A |
T |
X: 72,079,457 (GRCm39) |
D408E |
probably benign |
Het |
| Pramel46 |
G |
T |
5: 95,418,543 (GRCm39) |
A151E |
possibly damaging |
Het |
| Psen2 |
T |
C |
1: 180,073,268 (GRCm39) |
T18A |
probably benign |
Het |
| Ptk7 |
A |
T |
17: 46,883,659 (GRCm39) |
V802E |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,297,002 (GRCm39) |
|
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,720,141 (GRCm39) |
N132S |
possibly damaging |
Het |
| Spag9 |
A |
G |
11: 93,997,487 (GRCm39) |
H675R |
probably damaging |
Het |
| Tpra1 |
C |
A |
6: 88,888,868 (GRCm39) |
P350H |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,566,675 (GRCm39) |
I28073V |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,767,095 (GRCm39) |
H3023Q |
probably benign |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,661 (GRCm39) |
V261A |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,336,286 (GRCm39) |
P103S |
probably benign |
Het |
| Wars1 |
A |
G |
12: 108,848,791 (GRCm39) |
M52T |
probably benign |
Het |
| Zcchc2 |
C |
T |
1: 105,943,814 (GRCm39) |
H460Y |
probably damaging |
Het |
| Zscan12 |
G |
T |
13: 21,552,730 (GRCm39) |
V185F |
probably benign |
Het |
|
| Other mutations in Trim43a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02400:Trim43a
|
APN |
9 |
88,464,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-12-18 |
Incidental Mutation