Incidental Mutation 'R0682:Trim43a'
ID |
61020 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim43a
|
Ensembl Gene |
ENSMUSG00000090693 |
Gene Name |
tripartite motif-containing 43A |
Synonyms |
Gm6021 |
MMRRC Submission |
038867-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R0682 (G1)
|
Quality Score |
98 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
88462944-88470872 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 88464199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 37
(E37K)
|
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: E37K
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000127527 Gene: ENSMUSG00000090693 AA Change: E37K
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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
T |
C |
5: 146,121,650 (GRCm39) |
H83R |
probably benign |
Het |
Abcd3 |
A |
C |
3: 121,563,216 (GRCm39) |
I471S |
possibly damaging |
Het |
Abcg1 |
G |
A |
17: 31,330,225 (GRCm39) |
V509I |
probably benign |
Het |
Adamts9 |
A |
T |
6: 92,880,783 (GRCm39) |
N497K |
possibly damaging |
Het |
Agap2 |
A |
G |
10: 126,919,351 (GRCm39) |
S479G |
unknown |
Het |
Asic2 |
T |
C |
11: 80,777,506 (GRCm39) |
I402V |
possibly damaging |
Het |
Atp1a2 |
G |
A |
1: 172,112,164 (GRCm39) |
T577I |
probably benign |
Het |
Atraid |
T |
A |
5: 31,209,612 (GRCm39) |
I92K |
probably damaging |
Het |
Dpp10 |
C |
A |
1: 123,832,852 (GRCm39) |
A31S |
probably damaging |
Het |
Erich6 |
A |
T |
3: 58,544,232 (GRCm39) |
F118L |
probably benign |
Het |
Galnt18 |
T |
C |
7: 111,119,222 (GRCm39) |
Y418C |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,389,263 (GRCm39) |
C3927S |
possibly damaging |
Het |
Ifit2 |
G |
A |
19: 34,551,012 (GRCm39) |
R184H |
probably benign |
Het |
Kif24 |
A |
T |
4: 41,428,620 (GRCm39) |
N113K |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,185,653 (GRCm39) |
Y1354F |
probably benign |
Het |
Muc1 |
T |
A |
3: 89,138,439 (GRCm39) |
I427N |
probably damaging |
Het |
Muc5ac |
A |
G |
7: 141,359,406 (GRCm39) |
T1288A |
possibly damaging |
Het |
Or7g32 |
C |
A |
9: 19,388,645 (GRCm39) |
M300I |
probably benign |
Het |
Or9i14 |
C |
T |
19: 13,792,501 (GRCm39) |
C151Y |
possibly damaging |
Het |
Pex26 |
T |
A |
6: 121,161,363 (GRCm39) |
V47E |
probably damaging |
Het |
Plekhm2 |
T |
C |
4: 141,355,436 (GRCm39) |
I871V |
probably damaging |
Het |
Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
Rnf133 |
A |
T |
6: 23,649,569 (GRCm39) |
I163N |
probably damaging |
Het |
Rrp8 |
A |
C |
7: 105,383,218 (GRCm39) |
D349E |
probably damaging |
Het |
Sdhd |
G |
T |
9: 50,511,905 (GRCm39) |
Q38K |
probably benign |
Het |
Ssh1 |
C |
T |
5: 114,098,718 (GRCm39) |
S117N |
probably damaging |
Het |
Tbc1d2b |
A |
G |
9: 90,131,915 (GRCm39) |
M148T |
probably benign |
Het |
Tnni3k |
A |
G |
3: 154,645,665 (GRCm39) |
S470P |
probably damaging |
Het |
Tnr |
C |
T |
1: 159,679,877 (GRCm39) |
Q284* |
probably null |
Het |
Trim30a |
A |
C |
7: 104,078,389 (GRCm39) |
V229G |
probably damaging |
Het |
U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
Uck2 |
T |
C |
1: 167,064,259 (GRCm39) |
D90G |
probably damaging |
Het |
Vmn1r229 |
A |
T |
17: 21,034,950 (GRCm39) |
E65V |
probably benign |
Het |
Vmn2r26 |
A |
G |
6: 124,038,129 (GRCm39) |
E568G |
probably damaging |
Het |
Whamm |
A |
G |
7: 81,235,886 (GRCm39) |
E363G |
probably damaging |
Het |
Wrap53 |
A |
G |
11: 69,453,272 (GRCm39) |
S390P |
probably damaging |
Het |
Wrn |
A |
G |
8: 33,757,848 (GRCm39) |
S814P |
probably benign |
Het |
Zfp329 |
A |
G |
7: 12,544,211 (GRCm39) |
C438R |
probably damaging |
Het |
Zkscan8 |
T |
C |
13: 21,710,930 (GRCm39) |
Y60C |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTAGGATCACCTCAGGCAATATGC -3'
(R):5'- GGGTCACACACTTGTGCTCCTTAG -3'
Sequencing Primer
(F):5'- CAATATGCCTGTCAGGGAAAGTTC -3'
(R):5'- CTGACAATGGACACCTGCTT -3'
|
Posted On |
2013-07-30 |