Incidental Mutation 'R5857:Btbd8'
ID 454949
Institutional Source Beutler Lab
Gene Symbol Btbd8
Ensembl Gene ENSMUSG00000070632
Gene Name BTB domain containing 8
Synonyms EG627196, A830010M20Rik, Gm16115
MMRRC Submission 044069-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R5857 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 107585863-107659073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107609398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 212 (D212E)
Ref Sequence ENSEMBL: ENSMUSP00000148277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094541] [ENSMUST00000162298] [ENSMUST00000211896]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000094541
AA Change: D212E

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092119
Gene: ENSMUSG00000111375
AA Change: D212E

DomainStartEndE-ValueType
BTB 58 158 2.15e0 SMART
BTB 205 303 1.55e-21 SMART
Blast:BTB 341 372 6e-9 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000162298
AA Change: D212E

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000211896
AA Change: D212E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212858
Meta Mutation Damage Score 0.2687 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 95% (55/58)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,203,369 (GRCm39) I266V probably benign Het
Anks6 C T 4: 47,039,736 (GRCm39) A492T possibly damaging Het
Ano1 A T 7: 144,190,840 (GRCm39) C415S probably benign Het
Anxa3 T A 5: 96,976,651 (GRCm39) probably null Het
Apob T C 12: 8,065,397 (GRCm39) V4089A probably benign Het
Arhgap23 C T 11: 97,342,405 (GRCm39) A229V possibly damaging Het
Atad5 T C 11: 80,022,155 (GRCm39) F1447L probably benign Het
Ccdc38 G T 10: 93,398,695 (GRCm39) A58S possibly damaging Het
Cep112 T C 11: 108,422,297 (GRCm39) probably benign Het
Col4a2 G A 8: 11,475,442 (GRCm39) G622D probably damaging Het
Crhbp T A 13: 95,578,740 (GRCm39) Q134L probably benign Het
Ctnnbl1 T C 2: 157,631,018 (GRCm39) S145P probably damaging Het
Cyp4f16 T A 17: 32,755,998 (GRCm39) L9Q probably damaging Het
Dchs2 T G 3: 83,177,620 (GRCm39) I891S possibly damaging Het
Disp3 A T 4: 148,333,640 (GRCm39) V1066D probably benign Het
Dlgap1 A G 17: 71,122,388 (GRCm39) probably benign Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Efl1 T A 7: 82,412,397 (GRCm39) C929S probably benign Het
Gatb T C 3: 85,483,239 (GRCm39) F82S probably damaging Het
Gk5 C A 9: 96,001,508 (GRCm39) S2* probably null Het
Gpr135 G A 12: 72,117,614 (GRCm39) A51V probably benign Het
Hoxa9 T A 6: 52,201,277 (GRCm39) N255Y probably damaging Het
Igkv8-18 T C 6: 70,332,904 (GRCm39) V15A probably benign Het
Ism2 T C 12: 87,326,835 (GRCm39) D368G probably damaging Het
Krtap6-2 A T 16: 89,216,530 (GRCm39) S146T unknown Het
Lama1 T A 17: 68,114,838 (GRCm39) L2329H probably damaging Het
Llgl2 T A 11: 115,741,107 (GRCm39) I507N probably damaging Het
Lmna GCTGCCCACAC GC 3: 88,389,838 (GRCm39) probably benign Het
Lrfn3 A T 7: 30,058,863 (GRCm39) I454N possibly damaging Het
Mdn1 C A 4: 32,670,646 (GRCm39) T437K probably benign Het
Nat8f3 T C 6: 85,738,735 (GRCm39) Y9C probably damaging Het
Niban2 T A 2: 32,799,920 (GRCm39) N82K probably benign Het
Nlrp4d C A 7: 10,116,304 (GRCm39) G156V noncoding transcript Het
Npnt A T 3: 132,614,110 (GRCm39) C167S probably damaging Het
Nr3c2 A G 8: 77,635,496 (GRCm39) N199S possibly damaging Het
Or10x4 T G 1: 174,218,674 (GRCm39) I13R possibly damaging Het
Or8b12i C T 9: 20,082,535 (GRCm39) D111N probably damaging Het
Or8b37 T G 9: 37,959,049 (GRCm39) V177G probably benign Het
Pabpc1l T A 2: 163,886,175 (GRCm39) probably null Het
Pi4ka A G 16: 17,176,848 (GRCm39) I366T probably benign Het
Prl7a1 A T 13: 27,824,684 (GRCm39) D50E probably damaging Het
Rad52 T G 6: 119,887,968 (GRCm39) probably null Het
Rbm19 T A 5: 120,271,007 (GRCm39) L610Q probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Scube1 G T 15: 83,491,461 (GRCm39) probably benign Het
Sptbn4 G T 7: 27,118,138 (GRCm39) R314S possibly damaging Het
Togaram1 T A 12: 65,042,331 (GRCm39) I1130K possibly damaging Het
Tsc2 T C 17: 24,818,981 (GRCm39) E1352G probably damaging Het
Ube2d2a A G 18: 35,938,596 (GRCm39) T142A probably benign Het
Vps18 T C 2: 119,128,014 (GRCm39) Y946H probably damaging Het
Other mutations in Btbd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01911:Btbd8 APN 5 107,656,446 (GRCm39) missense probably damaging 1.00
IGL02638:Btbd8 APN 5 107,656,422 (GRCm39) missense possibly damaging 0.87
IGL03001:Btbd8 APN 5 107,645,708 (GRCm39) missense probably damaging 1.00
IGL03007:Btbd8 APN 5 107,651,542 (GRCm39) missense probably benign 0.37
IGL03008:Btbd8 APN 5 107,639,464 (GRCm39) splice site probably null
IGL03281:Btbd8 APN 5 107,651,742 (GRCm39) missense probably benign 0.02
R0206:Btbd8 UTSW 5 107,652,906 (GRCm39) missense probably benign 0.00
R0426:Btbd8 UTSW 5 107,658,239 (GRCm39) missense probably damaging 1.00
R0765:Btbd8 UTSW 5 107,654,800 (GRCm39) missense probably benign 0.14
R1747:Btbd8 UTSW 5 107,599,865 (GRCm39) missense probably damaging 1.00
R2013:Btbd8 UTSW 5 107,658,655 (GRCm39) missense probably damaging 0.99
R2338:Btbd8 UTSW 5 107,658,440 (GRCm39) missense probably damaging 0.99
R3963:Btbd8 UTSW 5 107,655,222 (GRCm39) missense probably damaging 0.99
R4460:Btbd8 UTSW 5 107,651,631 (GRCm39) missense possibly damaging 0.74
R4776:Btbd8 UTSW 5 107,658,317 (GRCm39) missense probably damaging 0.99
R4909:Btbd8 UTSW 5 107,655,176 (GRCm39) nonsense probably null
R5105:Btbd8 UTSW 5 107,658,337 (GRCm39) missense possibly damaging 0.70
R5155:Btbd8 UTSW 5 107,638,569 (GRCm39) missense probably damaging 0.96
R5700:Btbd8 UTSW 5 107,651,514 (GRCm39) missense possibly damaging 0.65
R5908:Btbd8 UTSW 5 107,655,460 (GRCm39) missense probably damaging 0.96
R6089:Btbd8 UTSW 5 107,654,895 (GRCm39) missense probably damaging 0.99
R6339:Btbd8 UTSW 5 107,651,583 (GRCm39) missense probably benign 0.17
R6484:Btbd8 UTSW 5 107,651,451 (GRCm39) missense probably benign 0.00
R7282:Btbd8 UTSW 5 107,658,371 (GRCm39) missense probably damaging 0.99
R7282:Btbd8 UTSW 5 107,655,062 (GRCm39) missense probably benign
R7492:Btbd8 UTSW 5 107,658,373 (GRCm39) missense probably benign 0.01
R8087:Btbd8 UTSW 5 107,632,953 (GRCm39) missense probably damaging 1.00
R8694:Btbd8 UTSW 5 107,658,635 (GRCm39) missense probably benign 0.02
R8777:Btbd8 UTSW 5 107,658,293 (GRCm39) missense probably damaging 0.99
R8777-TAIL:Btbd8 UTSW 5 107,658,293 (GRCm39) missense probably damaging 0.99
R8788:Btbd8 UTSW 5 107,618,853 (GRCm39) makesense probably null
R9240:Btbd8 UTSW 5 107,600,034 (GRCm39) missense probably benign 0.17
R9584:Btbd8 UTSW 5 107,658,347 (GRCm39) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- ATTATGAAGAAGACCTTTTGCGGG -3'
(R):5'- CAGATTTGCTCAGACTGAAACTTGTG -3'

Sequencing Primer
(F):5'- GACCTTTTGCGGGCATTAGAAAATG -3'
(R):5'- GACTGAAACTTGTGCATATGTGAGCC -3'
Posted On 2017-02-10