Incidental Mutation 'V5622:Trim43b'
| ID |
166135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim43b
|
| Ensembl Gene |
ENSMUSG00000079162 |
| Gene Name |
tripartite motif-containing 43B |
| Synonyms |
Gm8269 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
V5622 ()
of strain
521
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
88966677-88974888 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to C
at 88974598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167113]
[ENSMUST00000189557]
|
| AlphaFold |
P86448 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167113
|
| SMART Domains |
Protein: ENSMUSP00000126594
Gene: ENSMUSG00000079162
| 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 |
probably benign
Transcript: ENSMUST00000189557
|
| SMART Domains |
Protein: ENSMUSP00000139457
Gene: ENSMUSG00000079162
| 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: 94.1%
- 3x: 94.1%
- 10x: 94.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
C |
T |
4: 148,026,233 (GRCm39) |
S251F |
probably benign |
Het |
| Ccar2 |
G |
T |
14: 70,388,738 (GRCm39) |
L158I |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Gm10719 |
A |
G |
9: 3,021,253 (GRCm39) |
|
probably null |
Het |
| Gm10720 |
A |
C |
9: 3,015,669 (GRCm39) |
N6H |
probably benign |
Het |
| Gm21738 |
C |
T |
14: 19,417,180 (GRCm38) |
C116Y |
probably damaging |
Het |
| Gm8688 |
T |
G |
8: 100,391,152 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
A |
G |
1: 88,205,247 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
A |
4: 137,261,049 (GRCm39) |
Q1648K |
probably damaging |
Het |
| Hvcn1 |
TGAGGAGGAGGAGGAGGAG |
TGAGGAGGAGGAGGAG |
5: 122,371,602 (GRCm39) |
|
probably benign |
Het |
| Megf11 |
C |
A |
9: 64,597,351 (GRCm39) |
C674* |
probably null |
Het |
| Mroh2a |
C |
T |
1: 88,154,813 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,570,643 (GRCm39) |
S568P |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Npm1 |
C |
T |
11: 33,111,186 (GRCm39) |
V60I |
probably benign |
Het |
| Ppp2r5a |
G |
A |
1: 191,091,189 (GRCm39) |
R213W |
probably damaging |
Het |
| Ppp2r5a |
C |
T |
1: 191,091,198 (GRCm39) |
V210I |
probably benign |
Het |
| Vmn2r115 |
T |
C |
17: 23,565,201 (GRCm39) |
S363P |
probably damaging |
Het |
| Vmn2r115 |
T |
C |
17: 23,578,333 (GRCm39) |
I602T |
probably benign |
Het |
| Vmn2r117 |
C |
T |
17: 23,696,814 (GRCm39) |
A198T |
probably damaging |
Het |
| Vmn2r117 |
C |
G |
17: 23,698,479 (GRCm39) |
Q31H |
possibly damaging |
Het |
| Vmn2r88 |
C |
G |
14: 51,650,584 (GRCm39) |
T99S |
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Zbtb12 |
C |
A |
17: 35,115,277 (GRCm39) |
A354E |
possibly damaging |
Het |
| Zfp180 |
A |
G |
7: 23,781,456 (GRCm39) |
|
probably benign |
Het |
| Zfp268 |
C |
T |
4: 145,311,891 (GRCm39) |
|
probably benign |
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 |
|
R9769:Trim43b
|
UTSW |
9 |
88,967,458 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Predicted Primers |
|
| Posted On |
2014-04-07 |
Incidental Mutation