Incidental Mutation 'R9769:Trim43b'
| ID |
733398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim43b
|
| Ensembl Gene |
ENSMUSG00000079162 |
| Gene Name |
tripartite motif-containing 43B |
| Synonyms |
Gm8269 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R9769 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
88966677-88974888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88967458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 393
(H393Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126594
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167113]
[ENSMUST00000189557]
|
| AlphaFold |
P86448 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167113
AA Change: H393Y
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126594
Gene: ENSMUSG00000079162
AA Change: H393Y
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
9.6e-7 |
SMART |
|
Blast:BBOX
|
88 |
129 |
4e-8 |
BLAST |
|
PDB:2VOK|B
|
329 |
445 |
3e-15 |
PDB |
|
Blast:SPRY
|
336 |
441 |
9e-20 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189557
AA Change: H392Y
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139457
Gene: ENSMUSG00000079162
AA Change: H392Y
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
56 |
4.7e-9 |
SMART |
|
Blast:BBOX
|
88 |
129 |
4e-8 |
BLAST |
|
SPRY
|
334 |
444 |
8.1e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
T |
15: 94,251,459 (GRCm39) |
C443S |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,488,478 (GRCm39) |
S451P |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,167,513 (GRCm39) |
K146* |
probably null |
Het |
| Atxn2l |
A |
T |
7: 126,095,692 (GRCm39) |
I481N |
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,253,793 (GRCm39) |
I677F |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,917,393 (GRCm39) |
Y322C |
probably damaging |
Het |
| Cenpk |
C |
T |
13: 104,381,810 (GRCm39) |
Q245* |
probably null |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Kel |
C |
T |
6: 41,678,990 (GRCm39) |
G158R |
probably damaging |
Het |
| Klhl28 |
A |
G |
12: 64,998,330 (GRCm39) |
V388A |
probably benign |
Het |
| Macc1 |
A |
G |
12: 119,407,241 (GRCm39) |
K33E |
probably benign |
Het |
| Mup15 |
T |
A |
4: 61,356,528 (GRCm39) |
D79V |
possibly damaging |
Het |
| Nbeal2 |
C |
A |
9: 110,455,347 (GRCm39) |
V2549L |
probably benign |
Het |
| Ogfod3 |
T |
C |
11: 121,074,357 (GRCm39) |
T231A |
probably damaging |
Het |
| Or2t35 |
C |
T |
14: 14,407,929 (GRCm38) |
R234W |
probably damaging |
Het |
| Or56b35 |
A |
G |
7: 104,963,933 (GRCm39) |
K241E |
probably damaging |
Het |
| Pramel1 |
T |
C |
4: 143,125,110 (GRCm39) |
S345P |
possibly damaging |
Het |
| Sdr16c6 |
T |
A |
4: 4,076,893 (GRCm39) |
N2I |
probably benign |
Het |
| Slc10a4 |
A |
G |
5: 73,164,423 (GRCm39) |
D5G |
unknown |
Het |
| Slc35f3 |
A |
G |
8: 127,121,336 (GRCm39) |
E399G |
probably damaging |
Het |
| Vmn1r88 |
A |
G |
7: 12,912,280 (GRCm39) |
H212R |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,005,443 (GRCm39) |
Y360C |
probably damaging |
Het |
|
| Other mutations in Trim43b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00485:Trim43b
|
APN |
9 |
88,973,695 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01953:Trim43b
|
APN |
9 |
88,967,496 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02160:Trim43b
|
APN |
9 |
88,973,683 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02626:Trim43b
|
APN |
9 |
88,967,541 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03199:Trim43b
|
APN |
9 |
88,971,481 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0477:Trim43b
|
UTSW |
9 |
88,972,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1345:Trim43b
|
UTSW |
9 |
88,967,725 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1491:Trim43b
|
UTSW |
9 |
88,969,665 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1536:Trim43b
|
UTSW |
9 |
88,967,411 (GRCm39) |
nonsense |
probably null |
|
|
R1862:Trim43b
|
UTSW |
9 |
88,967,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Trim43b
|
UTSW |
9 |
88,967,302 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4039:Trim43b
|
UTSW |
9 |
88,973,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4222:Trim43b
|
UTSW |
9 |
88,972,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4223:Trim43b
|
UTSW |
9 |
88,972,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4224:Trim43b
|
UTSW |
9 |
88,972,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4726:Trim43b
|
UTSW |
9 |
88,971,538 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4812:Trim43b
|
UTSW |
9 |
88,973,533 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4887:Trim43b
|
UTSW |
9 |
88,973,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5865:Trim43b
|
UTSW |
9 |
88,967,659 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5909:Trim43b
|
UTSW |
9 |
88,967,451 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6226:Trim43b
|
UTSW |
9 |
88,973,328 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6378:Trim43b
|
UTSW |
9 |
88,967,452 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6531:Trim43b
|
UTSW |
9 |
88,967,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7114:Trim43b
|
UTSW |
9 |
88,967,661 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7946:Trim43b
|
UTSW |
9 |
88,973,538 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7972:Trim43b
|
UTSW |
9 |
88,973,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8270:Trim43b
|
UTSW |
9 |
88,967,458 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8887:Trim43b
|
UTSW |
9 |
88,969,642 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9142:Trim43b
|
UTSW |
9 |
88,973,452 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9223:Trim43b
|
UTSW |
9 |
88,967,663 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9370:Trim43b
|
UTSW |
9 |
88,971,559 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9375:Trim43b
|
UTSW |
9 |
88,967,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Trim43b
|
UTSW |
9 |
88,969,642 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9451:Trim43b
|
UTSW |
9 |
88,973,608 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9660:Trim43b
|
UTSW |
9 |
88,973,395 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9728:Trim43b
|
UTSW |
9 |
88,973,395 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9751:Trim43b
|
UTSW |
9 |
88,971,570 (GRCm39) |
missense |
probably benign |
0.04 |
|
V5622:Trim43b
|
UTSW |
9 |
88,974,598 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACTAGCATACTGGATTCCTATG -3'
(R):5'- TGAAACCCATCGTGTTTCCTG -3'
Sequencing Primer
(F):5'- CCTATGATTATGTGTAGACAGCAGAG -3'
(R):5'- CTTCTCCAGGGGAAAATACTACTGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation