Incidental Mutation 'IGL03098:Btbd6'
ID 452989
Institutional Source Beutler Lab
Gene Symbol Btbd6
Ensembl Gene ENSMUSG00000002803
Gene Name BTB domain containing 6
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.277) question?
Stock # IGL03098 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 112940102-112942565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112942038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 501 (E501G)
Ref Sequence ENSEMBL: ENSMUSP00000002880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002880] [ENSMUST00000011302] [ENSMUST00000165079] [ENSMUST00000221104] [ENSMUST00000223368] [ENSMUST00000221500] [ENSMUST00000222209] [ENSMUST00000223287]
AlphaFold Q8K2J9
Predicted Effect probably damaging
Transcript: ENSMUST00000002880
AA Change: E501G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002880
Gene: ENSMUSG00000002803
AA Change: E501G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 25 40 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
low complexity region 58 68 N/A INTRINSIC
low complexity region 86 106 N/A INTRINSIC
BTB 137 237 1.39e-23 SMART
BACK 243 352 2.81e-14 SMART
Pfam:PHR 393 538 1.2e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000011302
SMART Domains Protein: ENSMUSP00000011302
Gene: ENSMUSG00000011158

DomainStartEndE-ValueType
Pfam:TF_Zn_Ribbon 4 46 4.3e-17 PFAM
CYCLIN 91 172 1.93e-12 SMART
CYCLIN 185 269 1.22e-9 SMART
coiled coil region 298 334 N/A INTRINSIC
low complexity region 362 374 N/A INTRINSIC
low complexity region 431 444 N/A INTRINSIC
Pfam:BRF1 452 545 3.3e-29 PFAM
low complexity region 638 650 N/A INTRINSIC
low complexity region 662 675 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165079
AA Change: E450G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127286
Gene: ENSMUSG00000002803
AA Change: E450G

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
low complexity region 35 55 N/A INTRINSIC
BTB 86 186 1.39e-23 SMART
BACK 192 301 2.81e-14 SMART
Pfam:PHR 342 488 8.7e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220567
Predicted Effect probably damaging
Transcript: ENSMUST00000221104
AA Change: E450G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221415
Predicted Effect probably benign
Transcript: ENSMUST00000223368
Predicted Effect probably benign
Transcript: ENSMUST00000221500
Predicted Effect probably benign
Transcript: ENSMUST00000222209
Predicted Effect probably benign
Transcript: ENSMUST00000223287
Predicted Effect probably benign
Transcript: ENSMUST00000223508
Meta Mutation Damage Score 0.5192 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 92% (44/48)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Abca15 T C 7: 119,987,499 (GRCm39) probably null Het
Adcy4 T C 14: 56,019,038 (GRCm39) Q173R probably null Het
Arhgef19 A G 4: 140,974,879 (GRCm39) D113G possibly damaging Het
Btnl2 T C 17: 34,584,190 (GRCm39) V371A probably benign Het
Cd84 G T 1: 171,700,267 (GRCm39) R128L possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Dsg3 A T 18: 20,643,422 (GRCm39) probably benign Het
Efnb2 A T 8: 8,713,420 (GRCm39) probably benign Het
Fam24b T C 7: 130,927,977 (GRCm39) S71G probably benign Het
Flacc1 G T 1: 58,730,908 (GRCm39) H49Q probably benign Het
Hgd G A 16: 37,436,607 (GRCm39) C180Y probably benign Het
Hjurp TGGG TTGCGGG 1: 88,194,002 (GRCm39) probably benign Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Kcmf1 A T 6: 72,826,567 (GRCm39) M1K probably null Het
Letm2 T A 8: 26,071,745 (GRCm39) T386S possibly damaging Het
Lvrn A T 18: 47,014,477 (GRCm39) probably null Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nid2 G A 14: 19,856,006 (GRCm39) D1244N probably damaging Het
Nvl G T 1: 180,921,471 (GRCm39) Q843K probably benign Het
Obi1 T C 14: 104,716,253 (GRCm39) I707V possibly damaging Het
Or1e30 T G 11: 73,678,529 (GRCm39) I255S probably benign Het
Pi4ka A T 16: 17,143,891 (GRCm39) I726N probably damaging Het
Rab25 A T 3: 88,449,567 (GRCm39) C209S probably damaging Het
Rgs6 A T 12: 83,032,150 (GRCm39) I21F probably damaging Het
Rnf10 T C 5: 115,410,426 (GRCm39) D16G probably damaging Het
Rnmt G A 18: 68,439,073 (GRCm39) V61M probably damaging Het
Rrs1 GCTC GC 1: 9,616,328 (GRCm39) probably null Het
Scd4 A T 19: 44,321,931 (GRCm39) M1L possibly damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Sptb A G 12: 76,668,273 (GRCm39) I608T probably damaging Het
Sstr5 A G 17: 25,710,251 (GRCm39) V326A probably benign Het
Sugct T C 13: 17,846,321 (GRCm39) D62G probably damaging Het
Thada C G 17: 84,641,569 (GRCm39) D1306H possibly damaging Het
Thap1 C G 8: 26,652,498 (GRCm39) P79A probably benign Het
Tra2a G A 6: 49,225,969 (GRCm39) S157L probably damaging Het
Trappc10 C T 10: 78,050,520 (GRCm39) R307Q probably damaging Het
Trim9 A G 12: 70,327,467 (GRCm39) I390T possibly damaging Het
Usp24 T C 4: 106,228,230 (GRCm39) V765A probably benign Het
Wdr90 C A 17: 26,078,961 (GRCm39) probably benign Het
Ybey A T 10: 76,304,078 (GRCm39) C41* probably null Het
Other mutations in Btbd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02264:Btbd6 APN 12 112,940,589 (GRCm39) missense probably damaging 1.00
R0544:Btbd6 UTSW 12 112,940,702 (GRCm39) missense probably damaging 1.00
R2065:Btbd6 UTSW 12 112,941,755 (GRCm39) missense probably damaging 1.00
R2424:Btbd6 UTSW 12 112,941,980 (GRCm39) missense probably benign 0.00
R4241:Btbd6 UTSW 12 112,940,416 (GRCm39) missense probably benign
R5363:Btbd6 UTSW 12 112,941,756 (GRCm39) missense probably damaging 1.00
R6478:Btbd6 UTSW 12 112,940,932 (GRCm39) unclassified probably benign
R7063:Btbd6 UTSW 12 112,941,132 (GRCm39) missense probably damaging 1.00
R8901:Btbd6 UTSW 12 112,940,220 (GRCm39) unclassified probably benign
R9741:Btbd6 UTSW 12 112,940,923 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGATTGAACTCAAGCGGCTAG -3'
(R):5'- TGGTATCAGTAAGGCAGCTGG -3'

Sequencing Primer
(F):5'- TCAAGCGGCTAGGGATGGTC -3'
(R):5'- TAAGGCAGCTGGAAGTGTCCTG -3'
Posted On 2017-01-24