Incidental Mutation 'R7063:Btbd6'
ID 548409
Institutional Source Beutler Lab
Gene Symbol Btbd6
Ensembl Gene ENSMUSG00000002803
Gene Name BTB domain containing 6
Synonyms
MMRRC Submission 045159-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.277) question?
Stock # R7063 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 112940102-112942565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112941132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 148 (Y148C)
Ref Sequence ENSEMBL: ENSMUSP00000152889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002880] [ENSMUST00000011302] [ENSMUST00000165079] [ENSMUST00000221104] [ENSMUST00000221500] [ENSMUST00000222209] [ENSMUST00000223287] [ENSMUST00000223368]
AlphaFold Q8K2J9
Predicted Effect probably damaging
Transcript: ENSMUST00000002880
AA Change: Y199C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002880
Gene: ENSMUSG00000002803
AA Change: Y199C

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: Y148C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127286
Gene: ENSMUSG00000002803
AA Change: Y148C

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 probably damaging
Transcript: ENSMUST00000221104
AA Change: Y148C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000221500
Predicted Effect probably benign
Transcript: ENSMUST00000222209
Predicted Effect probably benign
Transcript: ENSMUST00000223287
Predicted Effect probably benign
Transcript: ENSMUST00000223368
Predicted Effect probably benign
Transcript: ENSMUST00000223508
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 A G 7: 16,299,038 (GRCm39) V9A probably benign Het
Casr T C 16: 36,314,936 (GRCm39) I968V probably benign Het
Celf1 T C 2: 90,843,189 (GRCm39) probably null Het
Chst2 G T 9: 95,287,621 (GRCm39) R242S probably benign Het
Clca3a1 T A 3: 144,460,967 (GRCm39) D228V probably damaging Het
Cwf19l2 A G 9: 3,430,532 (GRCm39) Y288C probably benign Het
Cyp2r1 A G 7: 114,152,184 (GRCm39) S49P probably damaging Het
Dnah5 A G 15: 28,233,394 (GRCm39) E251G probably benign Het
Eepd1 A G 9: 25,394,332 (GRCm39) R199G possibly damaging Het
Fat1 C T 8: 45,493,812 (GRCm39) T3986I probably benign Het
Gbp4 G A 5: 105,266,314 (GRCm39) R576C probably damaging Het
Glp1r A G 17: 31,144,532 (GRCm39) Y235C probably damaging Het
Gm6408 T C 5: 146,420,594 (GRCm39) I158T probably benign Het
Gpr89 C G 3: 96,783,014 (GRCm39) R312P probably damaging Het
Idh2 A G 7: 79,745,432 (GRCm39) V403A probably damaging Het
Lclat1 A G 17: 73,546,986 (GRCm39) E301G possibly damaging Het
Lgmn A G 12: 102,368,937 (GRCm39) Y181H probably damaging Het
Lgr5 T C 10: 115,292,639 (GRCm39) Y417C probably damaging Het
Man1a G T 10: 53,906,840 (GRCm39) N311K probably damaging Het
Nat10 G A 2: 103,578,422 (GRCm39) L228F probably benign Het
Or10d3 T G 9: 39,461,411 (GRCm39) Y252S possibly damaging Het
Or10v5 A G 19: 11,805,548 (GRCm39) F281L probably damaging Het
Or5b12b A G 19: 12,861,449 (GRCm39) D68G probably damaging Het
Or5p55 C A 7: 107,567,411 (GRCm39) A269E probably benign Het
Pcmtd2 T A 2: 181,496,776 (GRCm39) Y130* probably null Het
Potefam3f G A 8: 20,479,013 (GRCm39) C7Y Het
Qrfprl A G 6: 65,418,387 (GRCm39) probably benign Het
Rapgef5 A G 12: 117,652,864 (GRCm39) D62G possibly damaging Het
Serpina3m A T 12: 104,357,726 (GRCm39) I217L probably benign Het
Supt16 T C 14: 52,409,505 (GRCm39) R802G possibly damaging Het
Sypl2 A T 3: 108,124,971 (GRCm39) M130K probably benign Het
Tmtc2 A T 10: 105,184,386 (GRCm39) L503Q probably damaging Het
Ubald2 A G 11: 116,325,443 (GRCm39) Q60R probably benign Het
Vav1 C T 17: 57,618,860 (GRCm39) Q673* probably null Het
Vgll2 T C 10: 51,904,072 (GRCm39) S312P probably benign Het
Vmn1r191 C T 13: 22,362,864 (GRCm39) A297T probably benign Het
Vmn1r7 T A 6: 57,001,418 (GRCm39) I281F possibly damaging Het
Vmn2r108 T C 17: 20,701,410 (GRCm39) Y30C probably damaging Het
Vmn2r16 A G 5: 109,511,650 (GRCm39) N619S probably damaging Het
Vstm5 A G 9: 15,150,549 (GRCm39) probably benign Het
Zfp7 A G 15: 76,775,919 (GRCm39) I654V possibly damaging Het
Zmat2 A G 18: 36,929,627 (GRCm39) N129S probably null Het
Other mutations in Btbd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02264:Btbd6 APN 12 112,940,589 (GRCm39) missense probably damaging 1.00
IGL03098:Btbd6 UTSW 12 112,942,038 (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
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'- TGCCATGTTCTACGGGGATC -3'
(R):5'- TTCAGGCTCCTCAAACAGTCG -3'

Sequencing Primer
(F):5'- ATTCCCGATGTGGAGCCTG -3'
(R):5'- TCCTCAAACAGTCGGCTCTGG -3'
Posted On 2019-05-13