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 |
Incidental Mutation