Incidental Mutation 'R1239:Trim43a'
| ID |
151889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim43a
|
| Ensembl Gene |
ENSMUSG00000090693 |
| Gene Name |
tripartite motif-containing 43A |
| Synonyms |
Gm6021 |
| MMRRC Submission |
039306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R1239 (G1)
|
| Quality Score |
198 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
88462944-88470872 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT to GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT
at 88465042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164661]
[ENSMUST00000215498]
[ENSMUST00000216686]
|
| AlphaFold |
Q3TL54 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164661
|
| SMART Domains |
Protein: ENSMUSP00000127527
Gene: ENSMUSG00000090693
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
C |
T |
19: 4,915,483 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
G |
T |
15: 64,587,911 (GRCm39) |
R959S |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,586,171 (GRCm39) |
N455D |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,436,535 (GRCm39) |
T589A |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,863,347 (GRCm39) |
N1228K |
probably damaging |
Het |
| Ces4a |
T |
C |
8: 105,876,130 (GRCm39) |
L557P |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Clba1 |
A |
G |
12: 112,773,123 (GRCm39) |
R39G |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,237,152 (GRCm39) |
|
probably benign |
Het |
| Cplx2 |
G |
T |
13: 54,527,415 (GRCm39) |
A100S |
probably damaging |
Het |
| Cpsf6 |
G |
A |
10: 117,197,248 (GRCm39) |
|
probably benign |
Het |
| Cyp1a2 |
A |
G |
9: 57,589,050 (GRCm39) |
F255L |
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,492,313 (GRCm39) |
Y783H |
probably damaging |
Het |
| E230025N22Rik |
T |
C |
18: 36,818,528 (GRCm39) |
I434V |
probably damaging |
Het |
| Ermap |
T |
C |
4: 119,046,122 (GRCm39) |
K3E |
probably benign |
Het |
| Gatd3a |
A |
G |
10: 78,004,761 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
G |
A |
3: 107,891,344 (GRCm39) |
L125F |
possibly damaging |
Het |
| Hk2 |
C |
T |
6: 82,726,289 (GRCm39) |
G58R |
probably damaging |
Het |
| Jpt2 |
T |
C |
17: 25,179,585 (GRCm39) |
M1V |
probably null |
Het |
| Matcap2 |
GTTCTTC |
GTTC |
9: 22,335,995 (GRCm39) |
|
probably benign |
Het |
| Mgmt |
T |
C |
7: 136,729,786 (GRCm39) |
F200S |
probably benign |
Het |
| Mug2 |
T |
G |
6: 122,058,637 (GRCm39) |
|
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or5an11 |
G |
T |
19: 12,246,340 (GRCm39) |
V249F |
probably damaging |
Het |
| Or5b109 |
G |
A |
19: 13,212,040 (GRCm39) |
C142Y |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,968,279 (GRCm39) |
V886A |
probably damaging |
Het |
| Plcg2 |
T |
A |
8: 118,282,783 (GRCm39) |
V88D |
probably benign |
Het |
| Podxl2 |
C |
T |
6: 88,826,965 (GRCm39) |
V50I |
probably benign |
Het |
| Rap1gap |
G |
T |
4: 137,445,307 (GRCm39) |
M329I |
probably damaging |
Het |
| Rbm5 |
A |
G |
9: 107,630,165 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,821,430 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,897,929 (GRCm39) |
|
probably null |
Het |
| Skida1 |
A |
C |
2: 18,052,128 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,243,781 (GRCm39) |
F2024L |
probably damaging |
Het |
| Vmn1r16 |
C |
T |
6: 57,300,618 (GRCm39) |
M1I |
probably null |
Het |
| Zbtb39 |
G |
T |
10: 127,578,938 (GRCm39) |
G504V |
probably damaging |
Het |
| Zfp1004 |
T |
C |
2: 150,033,891 (GRCm39) |
Y71H |
possibly damaging |
Het |
| Zfp106 |
A |
T |
2: 120,364,075 (GRCm39) |
N777K |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGCCAGTCCTCAACTATGCTAC -3'
(R):5'- GAAGGGCTTGGATCACTCCTCAATG -3'
Sequencing Primer
(F):5'- ACATCACTTTACTTGAGCCCAG -3'
(R):5'- TGAATGTCTCTGGCCTCAAAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation