Incidental Mutation 'R1117:Trim43c'
| ID |
97426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim43c
|
| Ensembl Gene |
ENSMUSG00000067399 |
| Gene Name |
tripartite motif-containing 43C |
| Synonyms |
Trim43 |
| MMRRC Submission |
039190-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R1117 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
G |
A |
10: 83,344,487 (GRCm39) |
T353I |
probably benign |
Het |
| Arpc1b |
T |
C |
5: 145,062,564 (GRCm39) |
V226A |
possibly damaging |
Het |
| Casz1 |
C |
A |
4: 149,019,052 (GRCm39) |
T451K |
probably damaging |
Het |
| Ccr4 |
C |
T |
9: 114,321,085 (GRCm39) |
V327M |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,017,985 (GRCm39) |
E465G |
probably damaging |
Het |
| Cpa1 |
A |
G |
6: 30,645,260 (GRCm39) |
D412G |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,819,846 (GRCm39) |
N281K |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,258,641 (GRCm39) |
Q465R |
probably damaging |
Het |
| Cyp2c68 |
G |
A |
19: 39,700,903 (GRCm39) |
T305M |
probably damaging |
Het |
| Elp4 |
T |
C |
2: 105,672,656 (GRCm39) |
D143G |
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,428,212 (GRCm39) |
I462M |
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,631,232 (GRCm39) |
V245A |
probably benign |
Het |
| Gm4076 |
A |
G |
13: 85,275,437 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Kcnj15 |
G |
A |
16: 95,096,484 (GRCm39) |
M8I |
probably benign |
Het |
| Klk1b22 |
A |
T |
7: 43,766,283 (GRCm39) |
M255L |
probably benign |
Het |
| Mmrn1 |
T |
A |
6: 60,953,309 (GRCm39) |
I530K |
possibly damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,920 (GRCm39) |
|
probably benign |
Het |
| Nid2 |
A |
C |
14: 19,813,732 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
T |
C |
9: 39,934,058 (GRCm39) |
F123S |
probably damaging |
Het |
| Or10h28 |
C |
T |
17: 33,487,940 (GRCm39) |
R81* |
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,641 (GRCm39) |
K234E |
possibly damaging |
Het |
| Peak1 |
G |
A |
9: 56,165,702 (GRCm39) |
T742M |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,329,949 (GRCm39) |
T469S |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,865,340 (GRCm39) |
Y659C |
probably damaging |
Het |
| Slc19a2 |
A |
T |
1: 164,091,025 (GRCm39) |
I278F |
possibly damaging |
Het |
| Slc36a3 |
T |
C |
11: 55,037,006 (GRCm39) |
I100V |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,707,717 (GRCm39) |
D1079G |
probably damaging |
Het |
| Umod |
T |
C |
7: 119,076,529 (GRCm39) |
N79S |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,923,382 (GRCm39) |
T43A |
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 |
|
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 |
|
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'- CAGGAGGGCTTCAGAAACAGCATC -3'
(R):5'- TCACTGTGGggagctggagaaatg -3'
Sequencing Primer
(F):5'- cagtcagtcttctccttacacc -3'
(R):5'- gcaccgactgctcttcc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation