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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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