Incidental Mutation 'R0862:Trim43c'
| ID |
82157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim43c
|
| Ensembl Gene |
ENSMUSG00000067399 |
| Gene Name |
tripartite motif-containing 43C |
| Synonyms |
Trim43 |
| MMRRC Submission |
039036-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R0862 (G1)
|
| Quality Score |
171 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
88721217-88730243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88725087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 202
(H202L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163255]
[ENSMUST00000186363]
|
| AlphaFold |
P86449 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163255
AA Change: H203L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000129255
Gene: ENSMUSG00000067399
AA Change: H203L
| 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: H202L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000139715
Gene: ENSMUSG00000067399
AA Change: H202L
| 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: 98.1%
- 10x: 94.9%
- 20x: 87.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| 9230009I02Rik |
T |
C |
11: 50,982,144 (GRCm39) |
|
noncoding transcript |
Het |
| Adamts13 |
G |
A |
2: 26,896,336 (GRCm39) |
|
probably null |
Het |
| Chac1 |
C |
A |
2: 119,183,950 (GRCm39) |
A184E |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Csmd1 |
T |
A |
8: 16,240,040 (GRCm39) |
Y1124F |
probably damaging |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| Dyrk4 |
T |
C |
6: 126,854,296 (GRCm39) |
E499G |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,471,074 (GRCm39) |
I1603N |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,184,811 (GRCm39) |
C1660* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Gm19684 |
A |
T |
17: 36,432,792 (GRCm39) |
|
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Map4 |
A |
G |
9: 109,808,037 (GRCm39) |
Y34C |
probably damaging |
Het |
| Mapk8 |
C |
T |
14: 33,114,949 (GRCm39) |
R189H |
probably damaging |
Het |
| Mgst1 |
C |
T |
6: 138,124,749 (GRCm39) |
T21M |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 87,987,480 (GRCm39) |
T207A |
probably benign |
Het |
| Mthfd2 |
A |
G |
6: 83,290,376 (GRCm39) |
V85A |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,570,820 (GRCm39) |
S627G |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,457,263 (GRCm39) |
T2266I |
probably damaging |
Het |
| Or51b6b |
T |
C |
7: 103,309,735 (GRCm39) |
T241A |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,002 (GRCm39) |
Y196C |
probably damaging |
Het |
| Or8d1 |
T |
C |
9: 38,766,478 (GRCm39) |
V40A |
possibly damaging |
Het |
| Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,503,578 (GRCm39) |
|
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,632,823 (GRCm39) |
D583G |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,410,966 (GRCm39) |
M1022L |
probably benign |
Het |
| Rbm48 |
A |
G |
5: 3,640,438 (GRCm39) |
S314P |
probably benign |
Het |
| Rbms3 |
A |
T |
9: 117,458,860 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,266,049 (GRCm39) |
S726T |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,721,730 (GRCm39) |
F1334S |
probably damaging |
Het |
| Tyk2 |
T |
C |
9: 21,027,463 (GRCm39) |
H503R |
probably benign |
Het |
| Ubr2 |
G |
A |
17: 47,278,009 (GRCm39) |
Q745* |
probably null |
Het |
| Ush2a |
T |
A |
1: 188,275,015 (GRCm39) |
Y1829* |
probably null |
Het |
| Vmn2r65 |
T |
A |
7: 84,592,853 (GRCm39) |
E451D |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTGTGTGCAGCACTCTGATG -3'
(R):5'- AAAAGCCACAGGTGTGGTCCTC -3'
Sequencing Primer
(F):5'- AGCACTCTGATGGGCTCC -3'
(R):5'- GTGGTCCTCAGATAATGAAGCTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation