Incidental Mutation 'R2072:Btbd17'
ID 227255
Institutional Source Beutler Lab
Gene Symbol Btbd17
Ensembl Gene ENSMUSG00000000202
Gene Name BTB domain containing 17
Synonyms 1500005I02Rik, Tango10a
MMRRC Submission 040077-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2072 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 114682043-114686771 bp(-) (GRCm39)
Type of Mutation splice site (3817 bp from exon)
DNA Base Change (assembly) A to T at 114682778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000206] [ENSMUST00000084368] [ENSMUST00000138804]
AlphaFold Q9DB72
Predicted Effect probably damaging
Transcript: ENSMUST00000000206
AA Change: F311L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000206
Gene: ENSMUSG00000000202
AA Change: F311L

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 49 59 N/A INTRINSIC
BTB 63 162 2.01e-11 SMART
BACK 169 269 8.58e-19 SMART
Blast:BACK 425 460 1e-14 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000084368
SMART Domains Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021

DomainStartEndE-ValueType
KISc 9 354 4.53e-150 SMART
coiled coil region 361 388 N/A INTRINSIC
coiled coil region 431 449 N/A INTRINSIC
coiled coil region 506 551 N/A INTRINSIC
low complexity region 628 641 N/A INTRINSIC
low complexity region 750 766 N/A INTRINSIC
low complexity region 807 815 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137965
Predicted Effect probably null
Transcript: ENSMUST00000138340
SMART Domains Protein: ENSMUSP00000122743
Gene: ENSMUSG00000010021

DomainStartEndE-ValueType
low complexity region 22 38 N/A INTRINSIC
low complexity region 79 87 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000138804
SMART Domains Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021

DomainStartEndE-ValueType
KISc 9 312 2.99e-118 SMART
coiled coil region 319 346 N/A INTRINSIC
coiled coil region 389 407 N/A INTRINSIC
coiled coil region 464 509 N/A INTRINSIC
low complexity region 586 599 N/A INTRINSIC
low complexity region 683 692 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141386
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G C 5: 64,056,080 (GRCm39) R272P possibly damaging Het
Ablim3 A T 18: 61,990,159 (GRCm39) D83E possibly damaging Het
Aco1 G A 4: 40,183,605 (GRCm39) G508S probably damaging Het
Adamts13 C A 2: 26,895,437 (GRCm39) T1176N probably benign Het
Adgre5 T C 8: 84,454,433 (GRCm39) T357A probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Ankrd33 T C 15: 101,017,517 (GRCm39) V310A probably benign Het
Armh3 A T 19: 45,953,820 (GRCm39) I188K probably damaging Het
Bnipl C T 3: 95,151,522 (GRCm39) G232E probably damaging Het
Cacna1s G A 1: 136,007,242 (GRCm39) V173I probably benign Het
Ccdc122 T C 14: 77,306,391 (GRCm39) probably null Het
Ces1a T A 8: 93,774,703 (GRCm39) N12Y probably benign Het
Chrdl1 T C X: 142,086,414 (GRCm39) I231V probably benign Het
Ciita C T 16: 10,336,217 (GRCm39) T958I probably benign Het
Cnot1 G T 8: 96,466,461 (GRCm39) T1592K possibly damaging Het
Dcaf15 T C 8: 84,828,370 (GRCm39) D240G probably damaging Het
Dlgap1 C T 17: 70,969,765 (GRCm39) R524C probably damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dsg1c A G 18: 20,408,309 (GRCm39) M453V probably benign Het
Ednrb G T 14: 104,054,535 (GRCm39) N432K probably benign Het
Fcgbp G A 7: 27,819,814 (GRCm39) G2514S probably damaging Het
Fez1 A G 9: 36,779,241 (GRCm39) K306R probably benign Het
Fmo4 A G 1: 162,637,456 (GRCm39) V12A probably benign Het
Fpgt T C 3: 154,793,511 (GRCm39) Y172C probably damaging Het
Fsip2 T A 2: 82,839,159 (GRCm39) F6976I possibly damaging Het
Galnt12 C T 4: 47,108,477 (GRCm39) R205* probably null Het
Grik5 A T 7: 24,714,738 (GRCm39) M752K possibly damaging Het
Herc2 A G 7: 55,876,712 (GRCm39) N4516S probably damaging Het
Ifrd2 A T 9: 107,469,744 (GRCm39) D439V probably damaging Het
Igsf3 A G 3: 101,346,831 (GRCm39) T609A probably benign Het
Kif5a T C 10: 127,081,238 (GRCm39) D232G probably damaging Het
Lgi2 A G 5: 52,695,847 (GRCm39) S371P probably damaging Het
Marchf3 A T 18: 56,944,925 (GRCm39) V56E possibly damaging Het
Mib2 T C 4: 155,744,158 (GRCm39) D168G probably damaging Het
Nhs T A X: 160,625,717 (GRCm39) H544L probably damaging Het
Nlrp2 A G 7: 5,328,005 (GRCm39) S683P probably damaging Het
Onecut3 T G 10: 80,330,848 (GRCm39) L3V unknown Het
Or12j2 T C 7: 139,916,566 (GRCm39) S264P possibly damaging Het
Or4c35 C A 2: 89,808,557 (GRCm39) T145K probably benign Het
Or5b102 A T 19: 13,041,044 (GRCm39) M90L probably benign Het
Otogl C T 10: 107,616,904 (GRCm39) C1791Y probably damaging Het
Paip1 T C 13: 119,566,798 (GRCm39) V128A possibly damaging Het
Pcnx2 A T 8: 126,488,481 (GRCm39) C1688S possibly damaging Het
Pdzd2 A G 15: 12,385,905 (GRCm39) L955P probably damaging Het
Phlpp2 T C 8: 110,655,124 (GRCm39) S605P possibly damaging Het
Pkhd1l1 G T 15: 44,422,035 (GRCm39) A3102S probably damaging Het
Plxnb2 G T 15: 89,042,654 (GRCm39) R1545S probably damaging Het
Ppp4c T C 7: 126,386,520 (GRCm39) probably null Het
Prune1 C T 3: 95,162,719 (GRCm39) R318Q probably benign Het
Psg27 T C 7: 18,294,342 (GRCm39) D355G probably damaging Het
Psg27 A G 7: 18,298,934 (GRCm39) L129P probably benign Het
Psmc6 A G 14: 45,567,323 (GRCm39) K7E possibly damaging Het
Reln A T 5: 22,124,175 (GRCm39) V2777E probably damaging Het
Rigi A T 4: 40,224,069 (GRCm39) probably null Het
Scn11a G T 9: 119,640,274 (GRCm39) A207E possibly damaging Het
Slc5a5 C T 8: 71,345,083 (GRCm39) G75R possibly damaging Het
Smarcd2 A T 11: 106,156,133 (GRCm39) L42* probably null Het
Smg1 T C 7: 117,762,389 (GRCm39) probably benign Het
Smurf2 T A 11: 106,732,595 (GRCm39) Q335L probably benign Het
Sspo A T 6: 48,450,451 (GRCm39) H2580L probably benign Het
Stk3 T C 15: 34,959,195 (GRCm39) M256V possibly damaging Het
Syt1 A G 10: 108,419,833 (GRCm39) I276T probably damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Taar9 A T 10: 23,984,877 (GRCm39) C186S probably damaging Het
Tnrc6b C T 15: 80,767,166 (GRCm39) P977L possibly damaging Het
Trp53bp2 A G 1: 182,286,432 (GRCm39) T1091A probably benign Het
Ttn G T 2: 76,768,120 (GRCm39) T2947N probably damaging Het
Ube2q1 T C 3: 89,686,878 (GRCm39) probably null Het
Ube3c A G 5: 29,840,638 (GRCm39) E671G probably benign Het
Upf3a A G 8: 13,835,850 (GRCm39) K56R possibly damaging Het
Vmn2r15 A T 5: 109,434,619 (GRCm39) M695K possibly damaging Het
Vmn2r3 A T 3: 64,182,493 (GRCm39) M402K possibly damaging Het
Zfp354b T A 11: 50,813,279 (GRCm39) R549* probably null Het
Zfp37 A T 4: 62,109,945 (GRCm39) M411K probably damaging Het
Zfp747 T A 7: 126,973,142 (GRCm39) T343S possibly damaging Het
Zfp853 T A 5: 143,275,137 (GRCm39) Q161L unknown Het
Other mutations in Btbd17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Btbd17 APN 11 114,686,599 (GRCm39) missense probably benign 0.00
R1713:Btbd17 UTSW 11 114,686,650 (GRCm39) missense probably benign 0.03
R2074:Btbd17 UTSW 11 114,682,778 (GRCm39) splice site probably null
R2075:Btbd17 UTSW 11 114,682,778 (GRCm39) splice site probably null
R4461:Btbd17 UTSW 11 114,684,815 (GRCm39) missense possibly damaging 0.83
R4664:Btbd17 UTSW 11 114,684,832 (GRCm39) missense probably damaging 1.00
R4667:Btbd17 UTSW 11 114,684,683 (GRCm39) missense possibly damaging 0.76
R4698:Btbd17 UTSW 11 114,682,543 (GRCm39) missense probably damaging 1.00
R4888:Btbd17 UTSW 11 114,684,917 (GRCm39) missense possibly damaging 0.59
R5250:Btbd17 UTSW 11 114,682,234 (GRCm39) unclassified probably benign
R6572:Btbd17 UTSW 11 114,683,046 (GRCm39) missense probably damaging 1.00
R6592:Btbd17 UTSW 11 114,682,302 (GRCm39) missense probably damaging 1.00
R7141:Btbd17 UTSW 11 114,682,641 (GRCm39) missense possibly damaging 0.81
R7215:Btbd17 UTSW 11 114,682,291 (GRCm39) missense possibly damaging 0.67
R7986:Btbd17 UTSW 11 114,683,341 (GRCm39) missense probably damaging 1.00
R9320:Btbd17 UTSW 11 114,684,910 (GRCm39) missense possibly damaging 0.93
R9379:Btbd17 UTSW 11 114,682,749 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- AGGAAGTCGCCAGCTTCTTC -3'
(R):5'- ATCCGCTACCCGATGATTCC -3'

Sequencing Primer
(F):5'- ACCAGCACTGTCTTCTGGAAG -3'
(R):5'- ATGATTCCGCCTGCACAG -3'
Posted On 2014-09-17