Incidental Mutation 'R4664:Btbd17'
ID 353124
Institutional Source Beutler Lab
Gene Symbol Btbd17
Ensembl Gene ENSMUSG00000000202
Gene Name BTB domain containing 17
Synonyms 1500005I02Rik, Tango10a
MMRRC Submission 041922-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4664 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 114682043-114686771 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 114684832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 69 (V69G)
Ref Sequence ENSEMBL: ENSMUSP00000000206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000206] [ENSMUST00000045319] [ENSMUST00000084368] [ENSMUST00000106584]
AlphaFold Q9DB72
Predicted Effect probably damaging
Transcript: ENSMUST00000000206
AA Change: V69G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000206
Gene: ENSMUSG00000000202
AA Change: V69G

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: ENSMUST00000141386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156053
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 0.8477 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (110/115)
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano2 A G 6: 125,840,501 (GRCm39) I391V probably benign Het
Apc T A 18: 34,431,647 (GRCm39) L349M probably damaging Het
Atmin A G 8: 117,684,698 (GRCm39) D786G probably damaging Het
Atp8a1 T A 5: 67,919,929 (GRCm39) D379V possibly damaging Het
Aurkb A G 11: 68,939,435 (GRCm39) K173E probably damaging Het
Bak1 T C 17: 27,241,510 (GRCm39) I83V possibly damaging Het
Cacna1a T A 8: 85,328,396 (GRCm39) Y1597* probably null Het
Camk2a C A 18: 61,088,696 (GRCm39) Q167K possibly damaging Het
Capn1 A T 19: 6,061,045 (GRCm39) N253K probably benign Het
Ccer2 A G 7: 28,455,928 (GRCm39) E40G probably benign Het
Cdc42bpa A G 1: 179,972,130 (GRCm39) T527A probably damaging Het
Cdkl2 T C 5: 92,185,124 (GRCm39) D89G probably damaging Het
Cep128 G T 12: 91,263,027 (GRCm39) R291S probably damaging Het
Cert1 T C 13: 96,735,965 (GRCm39) V175A probably benign Het
Chd4 A G 6: 125,078,465 (GRCm39) M203V possibly damaging Het
Chrna4 A G 2: 180,679,286 (GRCm39) S54P probably damaging Het
Cic TGTTGCCCTC T 7: 24,990,099 (GRCm39) probably benign Het
Cntn5 T A 9: 10,144,214 (GRCm39) I152L possibly damaging Het
Cntn6 A G 6: 104,705,245 (GRCm39) E154G probably benign Het
Col16a1 A C 4: 129,955,883 (GRCm39) probably benign Het
Cpvl C T 6: 53,908,918 (GRCm39) E282K probably benign Het
Cyth2 T C 7: 45,460,143 (GRCm39) D183G probably damaging Het
Ddx47 A T 6: 134,989,319 (GRCm39) T48S possibly damaging Het
Dgkk A G X: 6,794,751 (GRCm39) D685G probably benign Het
Dis3l C T 9: 64,238,080 (GRCm39) S29N unknown Het
Dlg5 T C 14: 24,187,249 (GRCm39) H1834R possibly damaging Het
Dnah10 T C 5: 124,905,536 (GRCm39) M4060T possibly damaging Het
Dock3 T A 9: 106,870,743 (GRCm39) N557I possibly damaging Het
Dync2i1 T C 12: 116,219,831 (GRCm39) E37G probably damaging Het
Eprs1 A T 1: 185,105,273 (GRCm39) probably benign Het
Faim2 C A 15: 99,422,581 (GRCm39) probably null Het
Faim2 T G 15: 99,422,582 (GRCm39) S72R probably benign Het
Fanca T C 8: 123,995,711 (GRCm39) T1364A probably damaging Het
Fance T C 17: 28,534,636 (GRCm39) probably benign Het
Farsb A T 1: 78,420,402 (GRCm39) H496Q possibly damaging Het
Fryl C T 5: 73,248,022 (GRCm39) E1032K possibly damaging Het
Galnt14 A T 17: 73,814,808 (GRCm39) probably benign Het
Gba2 A T 4: 43,568,619 (GRCm39) probably benign Het
Gjb4 C A 4: 127,245,571 (GRCm39) K123N probably damaging Het
Gmcl1 G A 6: 86,709,980 (GRCm39) T56I probably benign Het
Gtf2ird1 T A 5: 134,412,756 (GRCm39) E55V probably damaging Het
Gtpbp2 T C 17: 46,472,080 (GRCm39) V5A probably benign Het
Hnrnpr A G 4: 136,044,486 (GRCm39) probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Hsd3b3 T C 3: 98,649,532 (GRCm39) S264G probably damaging Het
Ints8 T C 4: 11,227,152 (GRCm39) M574V probably benign Het
Kif4-ps G A 12: 101,115,477 (GRCm39) noncoding transcript Het
Klhl14 A T 18: 21,687,765 (GRCm39) N552K probably benign Het
Klhl40 A G 9: 121,609,799 (GRCm39) E528G probably damaging Het
Lactb2 T C 1: 13,717,624 (GRCm39) E133G probably damaging Het
Lratd2 A T 15: 60,695,478 (GRCm39) D89E probably benign Het
Lrrtm2 T C 18: 35,347,310 (GRCm39) probably null Het
Mab21l2 T A 3: 86,454,811 (GRCm39) Y63F probably benign Het
Mbd1 T A 18: 74,402,597 (GRCm39) I33N possibly damaging Het
Mertk G A 2: 128,643,132 (GRCm39) V844M probably benign Het
Myh11 T C 16: 14,044,448 (GRCm39) T652A possibly damaging Het
Nlrp4a C A 7: 26,148,943 (GRCm39) Y183* probably null Het
Noa1 T A 5: 77,447,600 (GRCm39) T558S probably benign Het
Nol11 A T 11: 107,071,826 (GRCm39) S256T possibly damaging Het
Nr1d1 G T 11: 98,662,086 (GRCm39) R183S possibly damaging Het
Nrg2 G T 18: 36,185,948 (GRCm39) Q264K possibly damaging Het
Nsd3 T A 8: 26,188,894 (GRCm39) F1027I probably damaging Het
Ntrk3 T A 7: 78,110,847 (GRCm39) I285F probably damaging Het
Obox8 T C 7: 14,066,771 (GRCm39) N91S possibly damaging Het
Oga T C 19: 45,760,384 (GRCm39) E258G probably benign Het
Orc5 C T 5: 22,751,520 (GRCm39) S63N probably benign Het
Osbpl6 C T 2: 76,398,552 (GRCm39) T412I probably benign Het
P2ry14 C T 3: 59,022,563 (GRCm39) C308Y probably damaging Het
Pacsin1 T C 17: 27,926,038 (GRCm39) F127L probably damaging Het
Pex11b T C 3: 96,551,151 (GRCm39) L198P possibly damaging Het
Pla2g4e A T 2: 120,001,669 (GRCm39) V660E probably damaging Het
Plxna4 C A 6: 32,493,885 (GRCm39) V244F possibly damaging Het
Polr3b A G 10: 84,550,233 (GRCm39) Y981C probably damaging Het
Popdc2 T A 16: 38,194,649 (GRCm39) S357T probably damaging Het
Prr29 A G 11: 106,267,159 (GRCm39) H58R probably damaging Het
Pyy T A 11: 101,998,178 (GRCm39) M1L possibly damaging Het
Rasd2 T C 8: 75,948,556 (GRCm39) S161P possibly damaging Het
Ryr3 C T 2: 112,826,900 (GRCm39) probably benign Het
Sectm1a G A 11: 120,960,552 (GRCm39) R88C possibly damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Siglecf A T 7: 43,005,837 (GRCm39) I465F possibly damaging Het
Sorl1 A T 9: 41,915,347 (GRCm39) M1294K probably damaging Het
Spam1 A T 6: 24,796,661 (GRCm39) H204L probably benign Het
Sspo A T 6: 48,450,468 (GRCm39) N2586Y possibly damaging Het
Tbc1d4 A G 14: 101,700,263 (GRCm39) probably benign Het
Tceanc2 A T 4: 107,022,757 (GRCm39) S77T probably damaging Het
Tedc2 A G 17: 24,439,114 (GRCm39) probably benign Het
Tgm6 A G 2: 129,979,314 (GRCm39) D148G probably benign Het
Tgm6 A T 2: 129,983,128 (GRCm39) Q239L probably benign Het
Thsd7a T A 6: 12,337,313 (GRCm39) T1235S possibly damaging Het
Thsd7a T A 6: 12,504,012 (GRCm39) I381F possibly damaging Het
Tmc4 T C 7: 3,674,270 (GRCm39) probably null Het
Tmem54 A T 4: 129,004,704 (GRCm39) E186D possibly damaging Het
Tpk1 A T 6: 43,588,269 (GRCm39) F32I probably benign Het
Trpc4ap A G 2: 155,514,917 (GRCm39) I97T probably benign Het
Tut7 G A 13: 59,948,413 (GRCm39) T636I possibly damaging Het
Txlnb A G 10: 17,718,942 (GRCm39) E591G probably damaging Het
Tyk2 C T 9: 21,025,503 (GRCm39) A741T probably damaging Het
Ubr4 G A 4: 139,133,829 (GRCm39) E742K possibly damaging Het
Uckl1 A T 2: 181,216,661 (GRCm39) S95T possibly damaging Het
Uevld T A 7: 46,587,734 (GRCm39) D322V probably damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn1r238 G T 18: 3,123,300 (GRCm39) T38K probably damaging Het
Vps8 T A 16: 21,262,938 (GRCm39) probably null Het
Wdr83 T C 8: 85,806,680 (GRCm39) probably benign Het
Zfp619 A G 7: 39,183,559 (GRCm39) T51A probably benign 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
R4461:Btbd17 UTSW 11 114,684,815 (GRCm39) missense possibly damaging 0.83
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'- CCTCTGCAGTCTTAGCTGGAAG -3'

Sequencing Primer
(F):5'- CCCCTGAAGGTGGAGAGAC -3'
(R):5'- TGGAAGCACCAGGCCGG -3'
Posted On 2015-10-08