Incidental Mutation 'R6531:Trim43b'
ID |
522357 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim43b
|
Ensembl Gene |
ENSMUSG00000079162 |
Gene Name |
tripartite motif-containing 43B |
Synonyms |
Gm8269 |
MMRRC Submission |
044657-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R6531 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
88966677-88974888 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 88967418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 405
(L405H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167113]
[ENSMUST00000189557]
|
AlphaFold |
P86448 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167113
AA Change: L406H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126594 Gene: ENSMUSG00000079162 AA Change: L406H
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 damaging
Transcript: ENSMUST00000189557
AA Change: L405H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139457 Gene: ENSMUSG00000079162 AA Change: L405H
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 |
0.7385 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.6%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
G |
6: 91,926,980 (GRCm39) |
E880G |
possibly damaging |
Het |
Acsbg2 |
T |
A |
17: 57,153,617 (GRCm39) |
I529F |
probably damaging |
Het |
Ahcyl2 |
T |
G |
6: 29,886,161 (GRCm39) |
M359R |
probably benign |
Het |
Aldh5a1 |
G |
T |
13: 25,102,547 (GRCm39) |
D305E |
probably benign |
Het |
Catsper2 |
C |
G |
2: 121,230,261 (GRCm39) |
V358L |
possibly damaging |
Het |
Cd200r4 |
C |
T |
16: 44,653,868 (GRCm39) |
Q222* |
probably null |
Het |
Col4a2 |
T |
A |
8: 11,458,135 (GRCm39) |
D270E |
probably benign |
Het |
Cux1 |
T |
C |
5: 136,303,973 (GRCm39) |
D1401G |
probably benign |
Het |
Cyp3a59 |
T |
A |
5: 146,035,027 (GRCm39) |
M235K |
probably benign |
Het |
Dock3 |
T |
C |
9: 106,844,415 (GRCm39) |
D895G |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,584,354 (GRCm39) |
F586L |
probably damaging |
Het |
Elmo1 |
G |
T |
13: 20,756,616 (GRCm39) |
R568L |
possibly damaging |
Het |
Epb41 |
T |
C |
4: 131,684,947 (GRCm39) |
T711A |
probably benign |
Het |
Grm7 |
T |
A |
6: 111,335,386 (GRCm39) |
M599K |
probably benign |
Het |
Hivep3 |
A |
T |
4: 119,980,073 (GRCm39) |
K1704* |
probably null |
Het |
Ighv1-62-3 |
C |
A |
12: 115,424,626 (GRCm39) |
C115F |
probably damaging |
Het |
Krt78 |
A |
G |
15: 101,860,708 (GRCm39) |
Y200H |
probably benign |
Het |
Lamb2 |
A |
T |
9: 108,360,925 (GRCm39) |
H549L |
possibly damaging |
Het |
Mroh3 |
A |
G |
1: 136,112,091 (GRCm39) |
I759T |
probably benign |
Het |
Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
Nol6 |
G |
T |
4: 41,118,154 (GRCm39) |
P828T |
probably benign |
Het |
Or1j15 |
G |
A |
2: 36,459,353 (GRCm39) |
V248I |
probably damaging |
Het |
Or4c3 |
A |
G |
2: 89,851,801 (GRCm39) |
V203A |
probably benign |
Het |
Or5m5 |
A |
G |
2: 85,814,651 (GRCm39) |
I156V |
probably benign |
Het |
Or8w1 |
A |
G |
2: 87,465,873 (GRCm39) |
Y73H |
probably damaging |
Het |
Ovgp1 |
A |
C |
3: 105,894,387 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
T |
A |
11: 71,962,313 (GRCm39) |
Q230L |
possibly damaging |
Het |
Pkn1 |
C |
T |
8: 84,396,922 (GRCm39) |
V910I |
probably benign |
Het |
Plcb1 |
T |
A |
2: 135,167,722 (GRCm39) |
|
probably null |
Het |
Ppp1r12c |
A |
G |
7: 4,485,788 (GRCm39) |
|
probably null |
Het |
Rassf5 |
T |
A |
1: 131,172,551 (GRCm39) |
Q106L |
possibly damaging |
Het |
Rfc1 |
T |
C |
5: 65,470,322 (GRCm39) |
K62E |
possibly damaging |
Het |
Sf3b1 |
C |
T |
1: 55,058,554 (GRCm39) |
E12K |
probably damaging |
Het |
Slc4a1ap |
A |
T |
5: 31,705,982 (GRCm39) |
D691V |
probably benign |
Het |
Speg |
T |
A |
1: 75,399,401 (GRCm39) |
F2283I |
probably benign |
Het |
Styxl2 |
A |
T |
1: 165,937,615 (GRCm39) |
|
probably null |
Het |
Synj2 |
A |
G |
17: 6,084,114 (GRCm39) |
K267E |
probably damaging |
Het |
Tg |
A |
T |
15: 66,711,211 (GRCm39) |
Y991F |
probably damaging |
Het |
Tlk1 |
A |
T |
2: 70,572,427 (GRCm39) |
D380E |
probably benign |
Het |
Ttf2 |
A |
G |
3: 100,863,576 (GRCm39) |
I586T |
probably damaging |
Het |
Ugt2b36 |
T |
A |
5: 87,229,445 (GRCm39) |
R213S |
probably damaging |
Het |
Vmn1r198 |
T |
A |
13: 22,538,577 (GRCm39) |
M21K |
probably benign |
Het |
Wdr35 |
A |
T |
12: 9,028,685 (GRCm39) |
Y101F |
probably benign |
Het |
Zfp367 |
T |
C |
13: 64,292,064 (GRCm39) |
Y189C |
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 |
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'- GGGGACACATTATCATAGAAGTACTAG -3'
(R):5'- GCTTCTCCAGGGGAAAATACTACTG -3'
Sequencing Primer
(F):5'- GAAAAGCACTAGCATACTGGATTC -3'
(R):5'- AAATACTACTGGGAGGTGGATTTG -3'
|
Posted On |
2018-06-06 |