Incidental Mutation 'R4461:Btbd17'
ID 330164
Institutional Source Beutler Lab
Gene Symbol Btbd17
Ensembl Gene ENSMUSG00000000202
Gene Name BTB domain containing 17
Synonyms 1500005I02Rik, Tango10a
MMRRC Submission 041720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4461 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 114682043-114686771 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 114684815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 75 (D75N)
Ref Sequence ENSEMBL: ENSMUSP00000000206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000206] [ENSMUST00000045319] [ENSMUST00000084368] [ENSMUST00000106584]
AlphaFold Q9DB72
Predicted Effect possibly damaging
Transcript: ENSMUST00000000206
AA Change: D75N

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000206
Gene: ENSMUSG00000000202
AA Change: D75N

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 benign
Transcript: ENSMUST00000045319
SMART Domains Protein: ENSMUSP00000045029
Gene: ENSMUSG00000034677

DomainStartEndE-ValueType
Pfam:7tm_1 84 321 4.1e-21 PFAM
Predicted Effect probably benign
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 probably benign
Transcript: ENSMUST00000106584
SMART Domains Protein: ENSMUSP00000102194
Gene: ENSMUSG00000034677

DomainStartEndE-ValueType
Pfam:7tm_1 86 327 2.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141481
Predicted Effect probably benign
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
Meta Mutation Damage Score 0.2488 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 T C 17: 66,292,932 (GRCm39) probably null Het
Apex1 T C 14: 51,163,970 (GRCm39) V165A probably damaging Het
Chd2 T C 7: 73,190,622 (GRCm39) probably benign Het
Coq10a T C 10: 128,200,347 (GRCm39) N138S possibly damaging Het
Ctbp1 A T 5: 33,408,357 (GRCm39) Y192N probably damaging Het
Cx3cl1 A G 8: 95,507,184 (GRCm39) *396W probably null Het
D6Ertd527e T C 6: 87,088,299 (GRCm39) I154T unknown Het
Dao T A 5: 114,157,987 (GRCm39) V203E probably damaging Het
Egr4 G A 6: 85,489,322 (GRCm39) A246V probably damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
H2-Eb2 T A 17: 34,552,497 (GRCm39) V114E possibly damaging Het
Hpgds A G 6: 65,100,618 (GRCm39) L120P probably damaging Het
Ikbke C T 1: 131,193,659 (GRCm39) V464I probably benign Het
Kank2 G A 9: 21,706,041 (GRCm39) Q326* probably null Het
Klhl26 T C 8: 70,904,194 (GRCm39) Y538C probably damaging Het
Klkb1 A G 8: 45,726,612 (GRCm39) S464P probably damaging Het
Kmt2a A G 9: 44,760,263 (GRCm39) Y529H probably damaging Het
Kmt2c A G 5: 25,504,874 (GRCm39) V3478A probably benign Het
Knl1 A C 2: 118,890,080 (GRCm39) N44T probably benign Het
Letm2 A G 8: 26,076,715 (GRCm39) C296R probably damaging Het
Lrrc37a A G 11: 103,355,180 (GRCm39) probably null Het
Med20 T C 17: 47,929,842 (GRCm39) V93A probably benign Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Muc1 A T 3: 89,138,870 (GRCm39) D493V probably damaging Het
Nek2 C T 1: 191,554,827 (GRCm39) P180S probably damaging Het
Nin A T 12: 70,089,359 (GRCm39) M1352K probably benign Het
Or5aq1 T C 2: 86,966,005 (GRCm39) H220R probably benign Het
P3h3 A T 6: 124,822,531 (GRCm39) S547T probably benign Het
Pik3c2g C T 6: 139,787,407 (GRCm39) probably benign Het
Pkd1l3 A G 8: 110,359,345 (GRCm39) probably null Het
Pzp T C 6: 128,501,003 (GRCm39) I118M probably benign Het
Rps6ka5 C A 12: 100,537,123 (GRCm39) D536Y probably damaging Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Siglece T C 7: 43,300,929 (GRCm39) Q462R probably benign Het
Sirt3 T C 7: 140,444,913 (GRCm39) D295G possibly damaging Het
Snph G A 2: 151,435,767 (GRCm39) S318L probably benign Het
Snx18 T C 13: 113,753,731 (GRCm39) T401A probably damaging Het
Tefm A G 11: 80,028,875 (GRCm39) probably null Het
Thada T C 17: 84,733,665 (GRCm39) Y994C probably damaging Het
Trmt1 A G 8: 85,425,778 (GRCm39) N531D probably benign Het
Ttc17 A G 2: 94,196,916 (GRCm39) V477A probably benign Het
Ubxn10 T A 4: 138,448,187 (GRCm39) Q163L probably benign Het
Ulk4 A T 9: 120,985,950 (GRCm39) I908N possibly damaging Het
Zfp747l1 A G 7: 126,983,917 (GRCm39) L395P probably damaging Het
Zscan12 C T 13: 21,550,789 (GRCm39) S136L possibly damaging 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
R2072:Btbd17 UTSW 11 114,682,778 (GRCm39) splice site probably null
R2074:Btbd17 UTSW 11 114,682,778 (GRCm39) splice site probably null
R2075:Btbd17 UTSW 11 114,682,778 (GRCm39) splice site probably null
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'- AGTAAGGCCAGACTTCTGCG -3'
(R):5'- CTGCAGTCTTAGCTGGAAGC -3'

Sequencing Primer
(F):5'- CCCCTGAAGGTGGAGAGAC -3'
(R):5'- TGGAAGCACCAGGCCGG -3'
Posted On 2015-07-21