Incidental Mutation 'R1345:Trim43b'
| ID |
247307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim43b
|
| Ensembl Gene |
ENSMUSG00000079162 |
| Gene Name |
tripartite motif-containing 43B |
| Synonyms |
Gm8269 |
| MMRRC Submission |
039410-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R1345 (G1)
|
| Quality Score |
76 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
88966677-88974888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 88967725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 303
(L303V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167113]
[ENSMUST00000189557]
|
| AlphaFold |
P86448 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167113
AA Change: L304V
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126594
Gene: ENSMUSG00000079162
AA Change: L304V
| 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: L303V
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139457
Gene: ENSMUSG00000079162
AA Change: L303V
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 92.3%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
C |
T |
12: 110,635,152 (GRCm39) |
V129I |
probably damaging |
Het |
| Akr1c18 |
T |
C |
13: 4,195,213 (GRCm39) |
T82A |
possibly damaging |
Het |
| Alx1 |
A |
G |
10: 102,864,353 (GRCm39) |
S39P |
possibly damaging |
Het |
| Atr |
A |
G |
9: 95,802,408 (GRCm39) |
T1767A |
probably benign |
Het |
| Brf1 |
A |
T |
12: 112,924,728 (GRCm39) |
|
probably null |
Het |
| Cd86 |
A |
G |
16: 36,438,686 (GRCm39) |
|
probably null |
Het |
| Cdan1 |
A |
G |
2: 120,549,620 (GRCm39) |
|
probably null |
Het |
| Cntln |
A |
G |
4: 84,892,228 (GRCm39) |
D371G |
probably damaging |
Het |
| Cypt4 |
A |
G |
9: 24,536,515 (GRCm39) |
T2A |
possibly damaging |
Het |
| Dll1 |
G |
T |
17: 15,593,817 (GRCm39) |
Y183* |
probably null |
Het |
| Dnmt1 |
G |
T |
9: 20,819,814 (GRCm39) |
P1444Q |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 121,776,993 (GRCm39) |
L309P |
probably damaging |
Het |
| Fam151a |
A |
G |
4: 106,599,491 (GRCm39) |
K142E |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,156,591 (GRCm39) |
E2378G |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kdm5b |
A |
C |
1: 134,558,288 (GRCm39) |
T1432P |
possibly damaging |
Het |
| Kif2a |
G |
A |
13: 107,130,423 (GRCm39) |
S15F |
probably damaging |
Het |
| Lzic |
A |
G |
4: 149,571,308 (GRCm39) |
E31G |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,021 (GRCm39) |
M466V |
probably benign |
Het |
| Mtm1 |
T |
C |
X: 70,330,837 (GRCm39) |
V203A |
probably benign |
Het |
| Muc21 |
T |
A |
17: 35,932,489 (GRCm39) |
|
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,794,702 (GRCm39) |
M249V |
probably benign |
Het |
| Or6c76b |
T |
C |
10: 129,692,759 (GRCm39) |
I124T |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,794 (GRCm39) |
Y243H |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,080,481 (GRCm39) |
N223S |
probably damaging |
Het |
| Sel1l3 |
G |
T |
5: 53,357,559 (GRCm39) |
H144Q |
possibly damaging |
Het |
| Simc1 |
A |
ANNNNNNNNNNNNNNNNNNNNN |
13: 54,673,060 (GRCm39) |
|
probably benign |
Het |
| Snrpb2 |
A |
G |
2: 142,907,086 (GRCm39) |
|
probably benign |
Het |
| Spata31d1d |
T |
G |
13: 59,873,838 (GRCm39) |
K1232N |
possibly damaging |
Het |
| Spink5 |
A |
T |
18: 44,123,749 (GRCm39) |
E345D |
possibly damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tarbp1 |
T |
C |
8: 127,175,069 (GRCm39) |
D789G |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tmem232 |
T |
C |
17: 65,757,401 (GRCm39) |
N264S |
possibly damaging |
Het |
| Tulp2 |
C |
A |
7: 45,168,145 (GRCm39) |
R298S |
probably benign |
Het |
| Usp42 |
A |
G |
5: 143,703,088 (GRCm39) |
V511A |
probably damaging |
Het |
| Vav1 |
A |
T |
17: 57,608,214 (GRCm39) |
T321S |
probably benign |
Het |
| Vmn1r169 |
A |
C |
7: 23,277,247 (GRCm39) |
H213P |
probably damaging |
Het |
| Vmn1r170 |
C |
T |
7: 23,305,787 (GRCm39) |
T63I |
probably benign |
Het |
| Vmn2r103 |
T |
G |
17: 20,014,509 (GRCm39) |
W434G |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp7 |
T |
C |
15: 76,774,908 (GRCm39) |
S317P |
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 |
|
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 |
|
V5622:Trim43b
|
UTSW |
9 |
88,974,598 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCCTATGCGGGTGATGAGAATG -3'
(R):5'- AAAGCTCCTGACAGAACTGTGCTG -3'
Sequencing Primer
(F):5'- GGTGTCGCCACATAGCTTC -3'
(R):5'- GCAGCTTCTACAGATTTTCAAAAACG -3'
|
| Posted On |
2014-11-06 |
Incidental Mutation