Incidental Mutation 'R3718:Trim43c'
ID |
258795 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim43c
|
Ensembl Gene |
ENSMUSG00000067399 |
Gene Name |
tripartite motif-containing 43C |
Synonyms |
Trim43 |
MMRRC Submission |
040710-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R3718 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
88721217-88730243 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88727030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 286
(S286P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163255]
[ENSMUST00000186363]
|
AlphaFold |
P86449 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000163255
AA Change: S286P
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000129255 Gene: ENSMUSG00000067399 AA Change: S286P
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 benign
Transcript: ENSMUST00000186363
AA Change: S285P
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139715 Gene: ENSMUSG00000067399 AA Change: S285P
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abra |
T |
C |
15: 41,729,689 (GRCm39) |
D237G |
probably benign |
Het |
Alas2 |
T |
C |
X: 149,343,726 (GRCm39) |
|
probably benign |
Het |
Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,408,627 (GRCm39) |
Y2505H |
probably benign |
Het |
Aspm |
G |
A |
1: 139,418,165 (GRCm39) |
V2965I |
probably benign |
Het |
Ccna2 |
A |
T |
3: 36,620,387 (GRCm39) |
V285E |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dnajc10 |
A |
G |
2: 80,155,089 (GRCm39) |
|
probably benign |
Het |
Dpp3 |
A |
G |
19: 4,973,093 (GRCm39) |
|
probably null |
Het |
Gng11 |
G |
A |
6: 4,008,078 (GRCm39) |
R47H |
probably benign |
Het |
Hivep1 |
C |
T |
13: 42,311,971 (GRCm39) |
H1404Y |
probably damaging |
Het |
Il18r1 |
A |
G |
1: 40,534,948 (GRCm39) |
E381G |
probably benign |
Het |
Il9 |
G |
A |
13: 56,627,264 (GRCm39) |
T116I |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 191,921,107 (GRCm39) |
T129A |
probably damaging |
Het |
Mroh7 |
T |
C |
4: 106,561,407 (GRCm39) |
E612G |
probably benign |
Het |
Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
Ntsr1 |
T |
C |
2: 180,184,499 (GRCm39) |
F401L |
probably benign |
Het |
Nup210 |
A |
T |
6: 90,997,162 (GRCm39) |
D1626E |
probably benign |
Het |
Or10q12 |
A |
G |
19: 13,746,428 (GRCm39) |
R241G |
probably damaging |
Het |
Or4k35 |
A |
G |
2: 111,100,571 (GRCm39) |
V47A |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,096,361 (GRCm39) |
R293G |
probably damaging |
Het |
Pign |
A |
G |
1: 105,577,006 (GRCm39) |
|
probably null |
Het |
Rad54l2 |
A |
G |
9: 106,570,726 (GRCm39) |
V1198A |
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,123,414 (GRCm39) |
V725A |
probably benign |
Het |
Skint10 |
A |
T |
4: 112,603,936 (GRCm39) |
W84R |
probably damaging |
Het |
Slc40a1 |
G |
T |
1: 45,950,151 (GRCm39) |
H434N |
probably benign |
Het |
Trdv2-1 |
T |
C |
14: 54,183,995 (GRCm39) |
Y76H |
probably benign |
Het |
Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,802,296 (GRCm39) |
I405T |
probably damaging |
Het |
Zc3hav1l |
G |
T |
6: 38,272,060 (GRCm39) |
S236R |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAATTTGCTATGAATACCTATGTGAGT -3'
(R):5'- ACAATGTGGCTTAACTAGACATCTT -3'
Sequencing Primer
(F):5'- ACCATGGGTTCCTGGGATTGAAC -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'
|
Posted On |
2015-01-23 |