Incidental Mutation 'IGL01620:Btbd17'
ID92501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btbd17
Ensembl Gene ENSMUSG00000000202
Gene NameBTB (POZ) domain containing 17
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01620
Quality Score
Status
Chromosome11
Chromosomal Location114791217-114795945 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 114795773 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 26 (T26A)
Ref Sequence ENSEMBL: ENSMUSP00000000206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000206] [ENSMUST00000045319] [ENSMUST00000106584]
Predicted Effect probably benign
Transcript: ENSMUST00000000206
AA Change: T26A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000000206
Gene: ENSMUSG00000000202
AA Change: T26A

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: ENSMUST00000106584
SMART Domains Protein: ENSMUSP00000102194
Gene: ENSMUSG00000034677

DomainStartEndE-ValueType
Pfam:7tm_1 86 327 2.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156192
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,339,950 V277D probably damaging Het
Akap9 T A 5: 3,960,218 V325D probably benign Het
Ambra1 A G 2: 91,911,412 probably null Het
Ano9 A G 7: 141,110,439 L94P probably damaging Het
Atad3a G T 4: 155,746,078 T521K probably damaging Het
Bckdk A G 7: 127,905,776 K126E possibly damaging Het
Bdp1 A T 13: 100,084,205 probably benign Het
Cadps2 G A 6: 23,587,462 S314L probably benign Het
Ccdc155 T C 7: 45,189,960 D359G probably damaging Het
Ccl8 A T 11: 82,116,609 Q90L probably damaging Het
Chit1 T C 1: 134,150,519 V355A probably damaging Het
Col17a1 A G 19: 47,668,539 I555T possibly damaging Het
Dmwd T A 7: 19,081,234 probably null Het
Dtna T C 18: 23,625,087 I483T probably damaging Het
Eloc T A 1: 16,643,278 probably benign Het
Emc7 T A 2: 112,464,774 L177H probably damaging Het
Emsy T A 7: 98,626,624 K352I probably damaging Het
Ermn T C 2: 58,052,490 E76G probably benign Het
Flot1 A T 17: 35,829,871 E203V possibly damaging Het
Hsd11b2 A G 8: 105,522,897 K266R probably benign Het
Iqck A T 7: 118,877,678 K154M probably damaging Het
Itgb5 T A 16: 33,919,798 V426E probably damaging Het
Kif13a T C 13: 46,864,820 K53R probably benign Het
Klhl2 A T 8: 64,779,738 H168Q probably damaging Het
Lpcat2b T C 5: 107,433,893 Y363H probably damaging Het
Lrp6 A T 6: 134,511,262 N290K probably damaging Het
Map2k3 T C 11: 60,950,047 F301L possibly damaging Het
Mns1 A G 9: 72,456,913 probably benign Het
Nos1 A G 5: 117,905,309 probably null Het
Olfr346 T A 2: 36,688,538 C179S probably damaging Het
Olfr652 T A 7: 104,565,013 V264D probably damaging Het
Pask A T 1: 93,310,122 H1374Q possibly damaging Het
Pik3r1 G A 13: 101,686,220 A658V probably damaging Het
Ppp2r2a A T 14: 67,070,277 F14I probably damaging Het
Ptprc C T 1: 138,068,410 E904K possibly damaging Het
Rab11fip4 G T 11: 79,691,879 D591Y possibly damaging Het
Rab3gap2 A G 1: 185,204,326 T29A probably benign Het
Rgs19 A G 2: 181,689,588 V84A possibly damaging Het
Shisa6 T G 11: 66,217,879 M391L probably benign Het
Sipa1l1 G A 12: 82,422,489 G1254D probably damaging Het
Slfn8 A T 11: 83,004,233 Y358* probably null Het
Taf3 G T 2: 9,952,661 R232S probably benign Het
Terb2 T A 2: 122,204,857 H186Q possibly damaging Het
Trav13n-4 T C 14: 53,364,016 S81P probably damaging Het
Trim30d G T 7: 104,472,126 P321T possibly damaging Het
Tyrp1 G T 4: 80,844,802 G309* probably null Het
Vps13d C A 4: 145,094,867 G2979V possibly damaging Het
Other mutations in Btbd17
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1713:Btbd17 UTSW 11 114795824 missense probably benign 0.03
R2072:Btbd17 UTSW 11 114791952 splice site probably null
R2074:Btbd17 UTSW 11 114791952 splice site probably null
R2075:Btbd17 UTSW 11 114791952 splice site probably null
R4461:Btbd17 UTSW 11 114793989 missense possibly damaging 0.83
R4664:Btbd17 UTSW 11 114794006 missense probably damaging 1.00
R4667:Btbd17 UTSW 11 114793857 missense possibly damaging 0.76
R4698:Btbd17 UTSW 11 114791717 missense probably damaging 1.00
R4888:Btbd17 UTSW 11 114794091 missense possibly damaging 0.59
R5250:Btbd17 UTSW 11 114791408 unclassified probably benign
R6572:Btbd17 UTSW 11 114792220 missense probably damaging 1.00
R6592:Btbd17 UTSW 11 114791476 missense probably damaging 1.00
R7141:Btbd17 UTSW 11 114791815 missense possibly damaging 0.81
R7215:Btbd17 UTSW 11 114791465 missense possibly damaging 0.67
R7986:Btbd17 UTSW 11 114792515 missense probably damaging 1.00
Posted On2013-12-09