Incidental Mutation 'R5833:Trim43c'
ID |
449411 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim43c
|
Ensembl Gene |
ENSMUSG00000067399 |
Gene Name |
tripartite motif-containing 43C |
Synonyms |
Trim43 |
MMRRC Submission |
043221-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R5833 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
88721217-88730243 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88725090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 203
(Q203R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139715
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163255]
[ENSMUST00000186363]
|
AlphaFold |
P86449 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163255
AA Change: Q204R
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000129255 Gene: ENSMUSG00000067399 AA Change: Q204R
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 |
possibly damaging
Transcript: ENSMUST00000186363
AA Change: Q203R
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000139715 Gene: ENSMUSG00000067399 AA Change: Q203R
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 |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 95.7%
- 20x: 84.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Abcb4 |
T |
C |
5: 9,008,314 (GRCm39) |
Y1161H |
probably damaging |
Het |
Adcy2 |
T |
A |
13: 68,886,722 (GRCm39) |
M276L |
probably benign |
Het |
Adi1 |
A |
G |
12: 28,731,041 (GRCm39) |
D166G |
probably benign |
Het |
Arhgap44 |
T |
G |
11: 64,929,503 (GRCm39) |
E267A |
probably damaging |
Het |
Arl11 |
T |
A |
14: 61,548,511 (GRCm39) |
L107Q |
probably damaging |
Het |
C1qtnf3 |
A |
G |
15: 10,975,716 (GRCm39) |
D247G |
probably benign |
Het |
C4b |
T |
C |
17: 34,949,647 (GRCm39) |
D1481G |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,245,326 (GRCm39) |
F242L |
probably damaging |
Het |
Ccnl1 |
T |
C |
3: 65,855,922 (GRCm39) |
K298E |
probably benign |
Het |
Dcaf5 |
A |
G |
12: 80,395,203 (GRCm39) |
V322A |
probably damaging |
Het |
Ddr2 |
T |
C |
1: 169,832,265 (GRCm39) |
N175S |
probably benign |
Het |
Enox1 |
T |
A |
14: 77,744,379 (GRCm39) |
M21K |
probably benign |
Het |
Fhad1 |
T |
C |
4: 141,729,838 (GRCm39) |
D55G |
probably damaging |
Het |
Gm5157 |
A |
G |
7: 20,919,318 (GRCm39) |
M75T |
possibly damaging |
Het |
Gm6309 |
A |
G |
5: 146,105,128 (GRCm39) |
S262P |
probably damaging |
Het |
Gpnmb |
T |
C |
6: 49,020,952 (GRCm39) |
L82P |
probably damaging |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
Itpripl2 |
A |
C |
7: 118,089,194 (GRCm39) |
V455G |
probably benign |
Het |
Kif16b |
A |
G |
2: 142,549,287 (GRCm39) |
V1087A |
probably benign |
Het |
Med12l |
A |
G |
3: 59,172,647 (GRCm39) |
D1801G |
possibly damaging |
Het |
Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
Mtmr4 |
T |
A |
11: 87,495,875 (GRCm39) |
Y570* |
probably null |
Het |
Osbpl1a |
G |
T |
18: 12,921,419 (GRCm39) |
N128K |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,454,155 (GRCm39) |
H178Q |
probably damaging |
Het |
Pdlim1 |
A |
T |
19: 40,218,989 (GRCm39) |
F214Y |
probably damaging |
Het |
Qki |
A |
T |
17: 10,435,316 (GRCm39) |
L236H |
probably damaging |
Het |
Rexo2 |
G |
T |
9: 48,380,171 (GRCm39) |
D220E |
probably benign |
Het |
Rras |
A |
G |
7: 44,670,715 (GRCm39) |
E195G |
possibly damaging |
Het |
Serpinb11 |
T |
C |
1: 107,305,392 (GRCm39) |
|
probably null |
Het |
Sp1 |
T |
A |
15: 102,339,352 (GRCm39) |
M430K |
possibly damaging |
Het |
Tardbp |
A |
C |
4: 148,702,117 (GRCm39) |
V86G |
probably damaging |
Het |
Vmn1r232 |
A |
G |
17: 21,133,913 (GRCm39) |
L229P |
probably damaging |
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 |
IGL02414:Trim43c
|
APN |
9 |
88,723,885 (GRCm39) |
critical splice acceptor site |
probably null |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGTAAATCAGTGTGTGCAGC -3'
(R):5'- GGTGTGGTCCTCAGATAATGAAGC -3'
Sequencing Primer
(F):5'- ATGGGCTCCTGTAGGTGAATTAAAC -3'
(R):5'- GGTCCTCAGATAATGAAGCTCTTTC -3'
|
Posted On |
2016-12-20 |