Incidental Mutation 'R3927:Trim43a'
ID |
308334 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim43a
|
Ensembl Gene |
ENSMUSG00000090693 |
Gene Name |
tripartite motif-containing 43A |
Synonyms |
Gm6021 |
MMRRC Submission |
040822-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R3927 (G1)
|
Quality Score |
217 |
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
Validation Efficiency |
95% (40/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
A |
G |
2: 103,538,563 (GRCm39) |
|
probably null |
Het |
Alpk1 |
T |
C |
3: 127,471,365 (GRCm39) |
H1039R |
probably damaging |
Het |
Avpr1a |
A |
G |
10: 122,285,616 (GRCm39) |
S303G |
probably benign |
Het |
Axdnd1 |
A |
G |
1: 156,246,840 (GRCm39) |
L79S |
probably damaging |
Het |
Baz1a |
A |
G |
12: 54,967,928 (GRCm39) |
I667T |
possibly damaging |
Het |
Bend5 |
A |
G |
4: 111,305,802 (GRCm39) |
Y282C |
possibly damaging |
Het |
Clstn3 |
T |
C |
6: 124,428,327 (GRCm39) |
D438G |
probably damaging |
Het |
Cog3 |
A |
G |
14: 75,980,998 (GRCm39) |
|
probably benign |
Het |
Cyp2j6 |
T |
C |
4: 96,441,525 (GRCm39) |
N55S |
probably benign |
Het |
Eif4b |
G |
A |
15: 101,992,745 (GRCm39) |
G101R |
probably damaging |
Het |
Epha2 |
T |
C |
4: 141,033,861 (GRCm39) |
L40P |
probably damaging |
Het |
Fig4 |
A |
G |
10: 41,139,135 (GRCm39) |
V356A |
probably benign |
Het |
Hal |
T |
C |
10: 93,349,888 (GRCm39) |
|
probably benign |
Het |
Helz |
A |
G |
11: 107,576,118 (GRCm39) |
Y1770C |
unknown |
Het |
Meis3 |
A |
G |
7: 15,911,419 (GRCm39) |
T39A |
probably benign |
Het |
Nod1 |
G |
T |
6: 54,921,902 (GRCm39) |
R139S |
probably benign |
Het |
Or6n2 |
A |
T |
1: 173,896,878 (GRCm39) |
N5Y |
probably damaging |
Het |
Pacsin3 |
C |
T |
2: 91,093,286 (GRCm39) |
|
probably null |
Het |
Plekhh1 |
T |
A |
12: 79,100,422 (GRCm39) |
I130N |
probably damaging |
Het |
Plxna2 |
G |
A |
1: 194,428,465 (GRCm39) |
E512K |
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 5,057,531 (GRCm39) |
I215M |
probably damaging |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Sap130 |
A |
T |
18: 31,807,435 (GRCm39) |
H414L |
possibly damaging |
Het |
Slc33a1 |
A |
G |
3: 63,871,145 (GRCm39) |
I156T |
probably benign |
Het |
Slc37a2 |
G |
A |
9: 37,146,803 (GRCm39) |
T338M |
probably damaging |
Het |
Spinkl |
T |
A |
18: 44,302,230 (GRCm39) |
|
probably null |
Het |
Tmc5 |
T |
A |
7: 118,251,878 (GRCm39) |
L657* |
probably null |
Het |
Tmem217 |
A |
G |
17: 29,745,677 (GRCm39) |
S18P |
probably damaging |
Het |
Tubb4a |
A |
G |
17: 57,387,967 (GRCm39) |
V353A |
probably benign |
Het |
Ube3b |
T |
C |
5: 114,553,741 (GRCm39) |
F974L |
probably benign |
Het |
Ubqln5 |
A |
G |
7: 103,777,678 (GRCm39) |
L382P |
probably damaging |
Het |
Ufsp2 |
T |
A |
8: 46,436,723 (GRCm39) |
|
probably null |
Het |
Unkl |
C |
T |
17: 25,448,303 (GRCm39) |
T66I |
probably damaging |
Het |
Xrn2 |
T |
A |
2: 146,880,109 (GRCm39) |
N477K |
probably benign |
Het |
Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
Zzef1 |
T |
C |
11: 72,749,208 (GRCm39) |
S899P |
probably damaging |
Het |
Zzz3 |
T |
C |
3: 152,161,499 (GRCm39) |
Y298H |
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 |
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'- ACATCACTTTACTTGAGCCCAG -3'
(R):5'- ACTGGAGAAGGGCTTGGATC -3'
Sequencing Primer
(F):5'- ACTTTACTTGAGCCCAGGGTGG -3'
(R):5'- AAGGGCTTGGATCACTCCTCAATG -3'
|
Posted On |
2015-04-17 |