Incidental Mutation 'R4223:Trim43b'
ID 319465
Institutional Source Beutler Lab
Gene Symbol Trim43b
Ensembl Gene ENSMUSG00000079162
Gene Name tripartite motif-containing 43B
Synonyms Gm8269
MMRRC Submission 041043-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4223 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 88966677-88974888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88972692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 154 (Q154L)
Ref Sequence ENSEMBL: ENSMUSP00000126594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167113] [ENSMUST00000189557]
AlphaFold P86448
Predicted Effect probably benign
Transcript: ENSMUST00000167113
AA Change: Q154L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000126594
Gene: ENSMUSG00000079162
AA Change: Q154L

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 benign
Transcript: ENSMUST00000189557
AA Change: Q154L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139457
Gene: ENSMUSG00000079162
AA Change: Q154L

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 98% (65/66)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A G 10: 78,930,286 (GRCm39) Y43H probably damaging Het
Aamp A T 1: 74,320,285 (GRCm39) L348Q probably damaging Het
Abcb1b T A 5: 8,863,722 (GRCm39) L226M probably damaging Het
Acap1 A G 11: 69,774,511 (GRCm39) S396P probably damaging Het
Aif1l A T 2: 31,852,251 (GRCm39) S40C probably damaging Het
Atp1a3 T C 7: 24,700,355 (GRCm39) D48G probably benign Het
Bhmt-ps1 T A 4: 26,369,352 (GRCm39) noncoding transcript Het
Ccdc116 A G 16: 16,964,809 (GRCm39) probably benign Het
Cmtm5 T A 14: 55,175,376 (GRCm39) C51S probably damaging Het
Cyb5rl T C 4: 106,938,185 (GRCm39) V214A probably damaging Het
Cyp4x1 A T 4: 114,970,077 (GRCm39) I350N probably damaging Het
Efcab6 C A 15: 83,751,309 (GRCm39) D1498Y probably damaging Het
Eif3c C G 7: 126,165,471 (GRCm39) probably benign Het
Epha3 G A 16: 63,403,902 (GRCm39) S733L probably damaging Het
Esyt1 T C 10: 128,356,517 (GRCm39) Y376C probably damaging Het
Galnt1 T C 18: 24,371,413 (GRCm39) F4L probably benign Het
Glis1 T C 4: 107,425,042 (GRCm39) S218P probably benign Het
Gm15854 A T 6: 129,949,426 (GRCm39) noncoding transcript Het
Gm29125 T C 1: 80,361,236 (GRCm39) noncoding transcript Het
Inpp5a T C 7: 139,138,821 (GRCm39) V263A possibly damaging Het
Itgb1 T G 8: 129,440,624 (GRCm39) I255S probably damaging Het
Kcp A G 6: 29,482,257 (GRCm39) L1547P possibly damaging Het
Kifc3 C A 8: 95,836,610 (GRCm39) L72F probably damaging Het
Lama3 T C 18: 12,583,460 (GRCm39) C683R probably damaging Het
Lrrc55 G A 2: 85,026,460 (GRCm39) A188V possibly damaging Het
Ly6i A T 15: 74,854,884 (GRCm39) S9T probably benign Het
Mfsd14b C T 13: 65,214,422 (GRCm39) probably benign Het
Nipsnap3a T A 4: 52,997,251 (GRCm39) D172E probably benign Het
Or4g7 A T 2: 111,309,489 (GRCm39) Y120F probably benign Het
Oxgr1 T C 14: 120,260,025 (GRCm39) K61E probably damaging Het
Pak2 G T 16: 31,871,028 (GRCm39) N51K probably benign Het
Pcdhgb7 T A 18: 37,886,856 (GRCm39) D675E probably benign Het
Pcolce T A 5: 137,603,389 (GRCm39) probably benign Het
Phc3 A T 3: 30,990,968 (GRCm39) S383R probably damaging Het
Phf1 C T 17: 27,156,474 (GRCm39) R539* probably null Het
Plch1 G A 3: 63,609,321 (GRCm39) T48I probably damaging Het
Plekha2 A G 8: 25,533,036 (GRCm39) S312P probably damaging Het
Pnpla7 T C 2: 24,872,126 (GRCm39) F69L possibly damaging Het
Ppcdc T A 9: 57,321,998 (GRCm39) M181L possibly damaging Het
Ptbp1 T C 10: 79,695,047 (GRCm39) I125T probably benign Het
Rfc3 C A 5: 151,574,637 (GRCm39) probably benign Het
Rpa2 T G 4: 132,504,055 (GRCm39) I69S probably damaging Het
Rtn4 G A 11: 29,656,856 (GRCm39) V337I probably benign Het
Rttn T C 18: 89,113,708 (GRCm39) L1709P probably damaging Het
Sh2b2 G A 5: 136,247,907 (GRCm39) P548L possibly damaging Het
Slc12a2 T A 18: 58,043,328 (GRCm39) S591T probably damaging Het
Slc25a45 A T 19: 5,930,146 (GRCm39) I39F probably damaging Het
Slc38a9 G A 13: 112,850,782 (GRCm39) probably null Het
Slc9a4 T C 1: 40,658,286 (GRCm39) V603A probably damaging Het
Snx19 T G 9: 30,339,744 (GRCm39) V294G possibly damaging Het
Sp140l2 T C 1: 85,090,278 (GRCm39) D83G probably damaging Het
Sspo G T 6: 48,428,091 (GRCm39) V313L possibly damaging Het
Stard9 A G 2: 120,495,472 (GRCm39) T116A possibly damaging Het
Strn3 C T 12: 51,674,638 (GRCm39) R382Q probably damaging Het
Trps1 A G 15: 50,710,044 (GRCm39) V98A probably benign Het
Vmn1r220 T A 13: 23,368,148 (GRCm39) M183L probably benign Het
Vmn2r60 A T 7: 41,765,952 (GRCm39) T20S probably benign Het
Wdr81 T C 11: 75,338,828 (GRCm39) T1444A probably benign Het
Xirp2 A T 2: 67,346,837 (GRCm39) E3026V possibly 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
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'- AGGAAGGTGCTGTTTCACTAAC -3'
(R):5'- AGCCCAGGGTGGTTGTATTC -3'

Sequencing Primer
(F):5'- GAAGGTGCTGTTTCACTAACATGCC -3'
(R):5'- CCCAGGGTGGTTGTATTCTGTAATTC -3'
Posted On 2015-06-10