Incidental Mutation 'R6498:Trim43a'
ID |
523108 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim43a
|
Ensembl Gene |
ENSMUSG00000090693 |
Gene Name |
tripartite motif-containing 43A |
Synonyms |
Gm6021 |
MMRRC Submission |
044630-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R6498 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
88462944-88470872 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 88464395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 102
(I102N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127527
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164661]
[ENSMUST00000215498]
[ENSMUST00000216686]
|
AlphaFold |
Q3TL54 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164661
AA Change: I102N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000127527 Gene: ENSMUSG00000090693 AA Change: I102N
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.8%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
G |
11: 110,182,928 (GRCm39) |
N1043T |
possibly damaging |
Het |
Actn2 |
C |
T |
13: 12,291,359 (GRCm39) |
E682K |
probably damaging |
Het |
Agtpbp1 |
A |
G |
13: 59,624,854 (GRCm39) |
V833A |
possibly damaging |
Het |
Arrb2 |
G |
T |
11: 70,330,375 (GRCm39) |
R333L |
probably benign |
Het |
Atp9b |
C |
T |
18: 80,820,230 (GRCm39) |
S135N |
probably benign |
Het |
Cep112 |
T |
A |
11: 108,331,357 (GRCm39) |
S135R |
probably benign |
Het |
D630045J12Rik |
G |
A |
6: 38,124,132 (GRCm39) |
R1607* |
probably null |
Het |
Duox1 |
A |
T |
2: 122,150,088 (GRCm39) |
S160C |
probably damaging |
Het |
Eogt |
A |
T |
6: 97,112,174 (GRCm39) |
Y160N |
probably damaging |
Het |
Exosc10 |
T |
C |
4: 148,657,795 (GRCm39) |
V647A |
probably benign |
Het |
Fbxo44 |
C |
T |
4: 148,238,882 (GRCm39) |
|
|
Het |
Fen1 |
G |
T |
19: 10,177,479 (GRCm39) |
R322S |
probably damaging |
Het |
Gls |
A |
C |
1: 52,259,198 (GRCm39) |
N134K |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,235,112 (GRCm39) |
V82A |
possibly damaging |
Het |
Il33 |
G |
A |
19: 29,927,137 (GRCm39) |
E23K |
probably benign |
Het |
Macroh2a2 |
C |
A |
10: 61,593,614 (GRCm39) |
V21F |
probably damaging |
Het |
Map2k5 |
C |
A |
9: 63,193,683 (GRCm39) |
A266S |
possibly damaging |
Het |
Or13g1 |
T |
C |
7: 85,956,226 (GRCm39) |
I32V |
probably benign |
Het |
Or2t29 |
T |
A |
11: 58,433,408 (GRCm39) |
N298I |
probably damaging |
Het |
Or5p61 |
C |
T |
7: 107,758,639 (GRCm39) |
C147Y |
probably benign |
Het |
Pcdh1 |
G |
A |
18: 38,330,490 (GRCm39) |
P838S |
probably benign |
Het |
Pcdha5 |
A |
G |
18: 37,095,768 (GRCm39) |
E759G |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,719,505 (GRCm39) |
I1214T |
unknown |
Het |
Per3 |
T |
C |
4: 151,113,662 (GRCm39) |
I299V |
probably benign |
Het |
Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
Synpo2 |
A |
T |
3: 122,873,881 (GRCm39) |
|
probably null |
Het |
Sys1 |
G |
A |
2: 164,306,438 (GRCm39) |
A131T |
probably benign |
Het |
Tekt2 |
A |
G |
4: 126,218,098 (GRCm39) |
L138P |
probably benign |
Het |
Tmprss12 |
T |
A |
15: 100,183,133 (GRCm39) |
N158K |
probably damaging |
Het |
Tnrc18 |
A |
T |
5: 142,717,923 (GRCm39) |
M2177K |
unknown |
Het |
Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
Utrn |
C |
T |
10: 12,317,837 (GRCm39) |
C498Y |
probably benign |
Het |
Vmn1r39 |
A |
T |
6: 66,781,841 (GRCm39) |
V159D |
probably damaging |
Het |
Vmn1r44 |
A |
G |
6: 89,870,562 (GRCm39) |
T103A |
probably benign |
Het |
Wsb1 |
A |
T |
11: 79,139,315 (GRCm39) |
V127D |
probably damaging |
Het |
Zfp268 |
T |
A |
4: 145,349,459 (GRCm39) |
C299S |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGTGTGGCCATAAGTTCTG -3'
(R):5'- AAGCATCTTCCTGTGGTCTGC -3'
Sequencing Primer
(F):5'- CCATAAGTTCTGCGAGGCATGTC -3'
(R):5'- CCTGTGGTCTGCTAAGCC -3'
|
Posted On |
2018-06-06 |