Incidental Mutation 'IGL02414:Trim43c'
ID |
292378 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trim43c
|
Ensembl Gene |
ENSMUSG00000067399 |
Gene Name |
tripartite motif-containing 43C |
Synonyms |
Trim43 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
IGL02414
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
88721217-88730243 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 88723885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139715
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163255]
[ENSMUST00000186363]
|
AlphaFold |
P86449 |
Predicted Effect |
probably null
Transcript: ENSMUST00000163255
|
SMART Domains |
Protein: ENSMUSP00000129255 Gene: ENSMUSG00000067399
Domain | Start | End | E-Value | Type |
RING
|
16 |
56 |
3.34e-6 |
SMART |
PDB:2IWG|E
|
329 |
446 |
3e-15 |
PDB |
Blast:SPRY
|
336 |
441 |
3e-20 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180712
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180783
|
Predicted Effect |
probably null
Transcript: ENSMUST00000186363
|
SMART Domains |
Protein: ENSMUSP00000139715 Gene: ENSMUSG00000067399
Domain | Start | End | E-Value | Type |
RING
|
16 |
56 |
1.6e-8 |
SMART |
SPRY
|
334 |
445 |
6e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188156
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ada |
C |
T |
2: 163,571,960 (GRCm39) |
D273N |
probably benign |
Het |
Btbd9 |
A |
C |
17: 30,439,533 (GRCm39) |
C551W |
possibly damaging |
Het |
Casp2 |
T |
A |
6: 42,257,380 (GRCm39) |
L443H |
probably damaging |
Het |
Cdhr3 |
A |
G |
12: 33,092,503 (GRCm39) |
Y703H |
possibly damaging |
Het |
Clta |
T |
C |
4: 44,030,274 (GRCm39) |
|
probably benign |
Het |
Cstdc2 |
T |
G |
2: 148,692,598 (GRCm39) |
K68T |
possibly damaging |
Het |
Dnah8 |
A |
G |
17: 30,919,387 (GRCm39) |
D1120G |
probably benign |
Het |
Ece2 |
A |
G |
16: 20,459,456 (GRCm39) |
D597G |
probably damaging |
Het |
Etfdh |
A |
G |
3: 79,511,403 (GRCm39) |
V526A |
probably damaging |
Het |
Gm14496 |
T |
A |
2: 181,633,198 (GRCm39) |
D60E |
probably benign |
Het |
Gpr85 |
A |
T |
6: 13,836,909 (GRCm39) |
|
probably benign |
Het |
Hivep1 |
C |
A |
13: 42,308,385 (GRCm39) |
S208R |
probably damaging |
Het |
Kif1b |
A |
G |
4: 149,283,771 (GRCm39) |
I1252T |
probably damaging |
Het |
Knl1 |
T |
C |
2: 118,900,804 (GRCm39) |
V835A |
possibly damaging |
Het |
Or2d4 |
A |
T |
7: 106,543,965 (GRCm39) |
M81K |
probably benign |
Het |
Or5ac25 |
C |
T |
16: 59,182,077 (GRCm39) |
C168Y |
probably damaging |
Het |
Ppwd1 |
T |
G |
13: 104,359,645 (GRCm39) |
I119L |
probably benign |
Het |
Prex1 |
T |
C |
2: 166,451,748 (GRCm39) |
K410R |
probably damaging |
Het |
Prm2 |
C |
T |
16: 10,609,754 (GRCm39) |
|
probably benign |
Het |
Psip1 |
T |
C |
4: 83,386,874 (GRCm39) |
T166A |
probably benign |
Het |
Rtel1 |
T |
C |
2: 180,977,765 (GRCm39) |
V98A |
probably benign |
Het |
Sdsl |
G |
A |
5: 120,600,124 (GRCm39) |
T91I |
probably damaging |
Het |
Tas2r136 |
A |
G |
6: 132,754,494 (GRCm39) |
M211T |
possibly damaging |
Het |
Ttc1 |
T |
C |
11: 43,630,664 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Trim43c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00780:Trim43c
|
APN |
9 |
88,723,909 (GRCm39) |
missense |
probably benign |
0.20 |
R0054:Trim43c
|
UTSW |
9 |
88,729,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R0765:Trim43c
|
UTSW |
9 |
88,723,969 (GRCm39) |
missense |
probably benign |
0.28 |
R0862:Trim43c
|
UTSW |
9 |
88,725,087 (GRCm39) |
missense |
probably benign |
0.01 |
R0864:Trim43c
|
UTSW |
9 |
88,725,087 (GRCm39) |
missense |
probably benign |
0.01 |
R1117:Trim43c
|
UTSW |
9 |
88,727,030 (GRCm39) |
missense |
probably benign |
0.20 |
R1222:Trim43c
|
UTSW |
9 |
88,725,131 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1643:Trim43c
|
UTSW |
9 |
88,729,530 (GRCm39) |
missense |
probably damaging |
0.97 |
R1691:Trim43c
|
UTSW |
9 |
88,722,752 (GRCm39) |
missense |
probably damaging |
0.98 |
R1914:Trim43c
|
UTSW |
9 |
88,722,670 (GRCm39) |
missense |
probably benign |
0.01 |
R3718:Trim43c
|
UTSW |
9 |
88,727,030 (GRCm39) |
missense |
probably benign |
0.20 |
R3772:Trim43c
|
UTSW |
9 |
88,729,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R3852:Trim43c
|
UTSW |
9 |
88,722,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R4774:Trim43c
|
UTSW |
9 |
88,729,705 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5784:Trim43c
|
UTSW |
9 |
88,729,696 (GRCm39) |
missense |
probably benign |
0.03 |
R5833:Trim43c
|
UTSW |
9 |
88,725,090 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6177:Trim43c
|
UTSW |
9 |
88,722,600 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6407:Trim43c
|
UTSW |
9 |
88,722,467 (GRCm39) |
missense |
probably benign |
|
R6490:Trim43c
|
UTSW |
9 |
88,727,003 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6892:Trim43c
|
UTSW |
9 |
88,726,977 (GRCm39) |
missense |
probably benign |
0.35 |
R8050:Trim43c
|
UTSW |
9 |
88,722,390 (GRCm39) |
missense |
probably damaging |
0.99 |
R8417:Trim43c
|
UTSW |
9 |
88,725,191 (GRCm39) |
missense |
probably benign |
0.20 |
R9276:Trim43c
|
UTSW |
9 |
88,723,966 (GRCm39) |
missense |
probably benign |
|
Z1088:Trim43c
|
UTSW |
9 |
88,724,988 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2015-04-16 |