Incidental Mutation 'R6407:Trim43c'
| ID |
514500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim43c
|
| Ensembl Gene |
ENSMUSG00000067399 |
| Gene Name |
tripartite motif-containing 43C |
| Synonyms |
Trim43 |
| MMRRC Submission |
044552-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R6407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
88721217-88730243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88722467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 38
(T38S)
|
| 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: T38S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129255
Gene: ENSMUSG00000067399
AA Change: T38S
| 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: T38S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139715
Gene: ENSMUSG00000067399
AA Change: T38S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
T |
C |
18: 65,422,809 (GRCm39) |
Y1963C |
probably benign |
Het |
| Bptf |
T |
A |
11: 107,001,952 (GRCm39) |
N387Y |
probably damaging |
Het |
| C1ql2 |
T |
C |
1: 120,269,340 (GRCm39) |
L165P |
probably damaging |
Het |
| Col5a2 |
C |
A |
1: 45,415,938 (GRCm39) |
C1403F |
probably damaging |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Htr3a |
G |
T |
9: 48,812,355 (GRCm39) |
Y250* |
probably null |
Het |
| Ighg2c |
T |
C |
12: 113,252,271 (GRCm39) |
K94E |
unknown |
Het |
| Ighg3 |
T |
C |
12: 113,323,770 (GRCm39) |
N206S |
unknown |
Het |
| Il36rn |
A |
G |
2: 24,171,365 (GRCm39) |
Y151C |
probably damaging |
Het |
| Kif22 |
G |
A |
7: 126,632,375 (GRCm39) |
R312C |
probably damaging |
Het |
| Lap3 |
T |
A |
5: 45,669,267 (GRCm39) |
V472E |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,234,772 (GRCm39) |
T762A |
probably benign |
Het |
| Mfsd12 |
T |
C |
10: 81,198,067 (GRCm39) |
|
probably null |
Het |
| Mrpl39 |
T |
C |
16: 84,529,273 (GRCm39) |
K123R |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,220,394 (GRCm39) |
T113S |
possibly damaging |
Het |
| Nhp2 |
T |
C |
11: 51,510,730 (GRCm39) |
V29A |
probably benign |
Het |
| Or14a260 |
T |
C |
7: 85,985,277 (GRCm39) |
E109G |
possibly damaging |
Het |
| Pex3 |
T |
C |
10: 13,422,112 (GRCm39) |
R63G |
probably damaging |
Het |
| Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
C |
15: 39,315,724 (GRCm39) |
S617P |
probably damaging |
Het |
| Rnf223 |
A |
T |
4: 156,216,816 (GRCm39) |
T64S |
probably damaging |
Het |
| Rrp12 |
C |
T |
19: 41,872,181 (GRCm39) |
V432M |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,742,528 (GRCm39) |
V100A |
probably benign |
Het |
| Slc17a7 |
C |
T |
7: 44,819,350 (GRCm39) |
A167V |
probably benign |
Het |
| Slc38a6 |
T |
C |
12: 73,356,949 (GRCm39) |
F115S |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,129,645 (GRCm39) |
S1122P |
probably benign |
Het |
| Spdye4a |
T |
C |
5: 143,211,454 (GRCm39) |
T37A |
probably benign |
Het |
| Sphk2 |
T |
C |
7: 45,362,024 (GRCm39) |
T138A |
possibly damaging |
Het |
| Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
| Sult1a1 |
T |
C |
7: 126,272,356 (GRCm39) |
|
probably null |
Het |
| Tmem212 |
A |
G |
3: 27,938,988 (GRCm39) |
V166A |
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,084,952 (GRCm39) |
L317P |
probably benign |
Het |
| Tshz1 |
C |
A |
18: 84,034,091 (GRCm39) |
V106F |
possibly damaging |
Het |
| Tut4 |
G |
T |
4: 108,415,979 (GRCm39) |
E1648D |
probably damaging |
Het |
| Yap1 |
A |
G |
9: 7,962,373 (GRCm39) |
M225T |
possibly damaging |
Het |
| Zfp74 |
T |
C |
7: 29,635,048 (GRCm39) |
E220G |
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 |
|
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 |
|
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'- ACCTCAGACAATATGCCTTTCAGG -3'
(R):5'- TTTCGCCTTGTGGGTCACAC -3'
Sequencing Primer
(F):5'- CAGACAATATGCCTTTCAGGTTAAG -3'
(R):5'- ACACTTGTGCTCCTCAGAATTCAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation