Incidental Mutation 'IGL00885:Btbd16'
ID 27740
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btbd16
Ensembl Gene ENSMUSG00000040298
Gene Name BTB domain containing 16
Synonyms E330040A16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00885
Quality Score
Status
Chromosome 7
Chromosomal Location 130375799-130427629 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130390552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 150 (I150V)
Ref Sequence ENSEMBL: ENSMUSP00000146849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048453] [ENSMUST00000124096] [ENSMUST00000207219] [ENSMUST00000208593]
AlphaFold E9Q173
Predicted Effect possibly damaging
Transcript: ENSMUST00000048453
AA Change: I166V

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035433
Gene: ENSMUSG00000040298
AA Change: I166V

DomainStartEndE-ValueType
low complexity region 18 30 N/A INTRINSIC
Blast:BTB 97 222 3e-47 BLAST
SCOP:d1buoa_ 154 218 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207155
Predicted Effect probably damaging
Transcript: ENSMUST00000207219
AA Change: I166V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000208593
AA Change: I150V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep 2016]
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A T 17: 43,025,206 (GRCm39) probably benign Het
Adora2a T G 10: 75,169,285 (GRCm39) F250V probably damaging Het
Atp8b5 T C 4: 43,355,567 (GRCm39) S516P probably damaging Het
Capn13 A T 17: 73,646,420 (GRCm39) I331N possibly damaging Het
Capzb A G 4: 139,014,361 (GRCm39) S233G probably benign Het
Clasp2 A G 9: 113,740,484 (GRCm39) R1171G probably damaging Het
Col16a1 T G 4: 129,990,703 (GRCm39) I1419S probably damaging Het
Coro7 T A 16: 4,452,890 (GRCm39) Y286F probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Cyp11b2 T C 15: 74,725,364 (GRCm39) T252A probably benign Het
Daam1 T A 12: 71,990,865 (GRCm39) C160S unknown Het
Ephx4 T C 5: 107,553,991 (GRCm39) probably benign Het
Fbxo47 A T 11: 97,768,946 (GRCm39) D63E probably benign Het
Fgf3 A T 7: 144,394,521 (GRCm39) probably benign Het
Fstl4 C T 11: 53,039,809 (GRCm39) T331I possibly damaging Het
Gpr158 T C 2: 21,653,832 (GRCm39) F467S probably damaging Het
Igfbpl1 C T 4: 45,826,478 (GRCm39) V106I probably damaging Het
Ikzf2 T C 1: 69,578,481 (GRCm39) T271A possibly damaging Het
Kat14 T A 2: 144,236,175 (GRCm39) N302K probably benign Het
Kmt2c G T 5: 25,614,169 (GRCm39) Q184K possibly damaging Het
Moxd2 A G 6: 40,861,113 (GRCm39) probably benign Het
Nbeal2 C A 9: 110,467,729 (GRCm39) E479D probably damaging Het
Neo1 A G 9: 58,795,746 (GRCm39) L1231P probably damaging Het
Nfatc3 C T 8: 106,825,809 (GRCm39) P620L probably damaging Het
Nol9 T C 4: 152,126,057 (GRCm39) F253L probably damaging Het
Nutm2 T A 13: 50,628,896 (GRCm39) S653R probably benign Het
Or2n1e A C 17: 38,585,790 (GRCm39) I43L probably benign Het
Or9i16 A T 19: 13,865,532 (GRCm39) M14K probably benign Het
Plcg1 A G 2: 160,600,003 (GRCm39) D921G probably benign Het
Plpp4 A T 7: 128,923,257 (GRCm39) I101F probably damaging Het
Psg17 A T 7: 18,554,091 (GRCm39) L53Q probably damaging Het
Ptpn4 A T 1: 119,730,093 (GRCm39) I20N possibly damaging Het
R3hdm1 A T 1: 128,164,175 (GRCm39) I1030L probably damaging Het
Rpl7 A C 1: 16,172,807 (GRCm39) S171A possibly damaging Het
Snx25 G A 8: 46,491,513 (GRCm39) T859M probably damaging Het
Spata31e5 T C 1: 28,815,926 (GRCm39) E702G unknown Het
Tmem94 A G 11: 115,686,154 (GRCm39) M990V probably damaging Het
Tnnt2 A G 1: 135,774,502 (GRCm39) probably benign Het
Ttn T C 2: 76,540,029 (GRCm39) H34319R possibly damaging Het
Vmn1r72 A G 7: 11,404,424 (GRCm39) V8A probably benign Het
Zbtb41 A G 1: 139,358,062 (GRCm39) T457A probably benign Het
Other mutations in Btbd16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Btbd16 APN 7 130,426,091 (GRCm39) missense probably damaging 1.00
IGL01098:Btbd16 APN 7 130,424,975 (GRCm39) missense probably damaging 1.00
IGL01412:Btbd16 APN 7 130,407,549 (GRCm39) critical splice acceptor site probably null
1mM(1):Btbd16 UTSW 7 130,423,221 (GRCm39) missense possibly damaging 0.86
R0063:Btbd16 UTSW 7 130,424,896 (GRCm39) missense probably benign 0.25
R0063:Btbd16 UTSW 7 130,424,896 (GRCm39) missense probably benign 0.25
R0147:Btbd16 UTSW 7 130,381,324 (GRCm39) missense probably damaging 1.00
R0436:Btbd16 UTSW 7 130,387,783 (GRCm39) missense probably benign 0.10
R0715:Btbd16 UTSW 7 130,390,557 (GRCm39) missense probably damaging 1.00
R2127:Btbd16 UTSW 7 130,386,038 (GRCm39) missense probably benign 0.17
R2411:Btbd16 UTSW 7 130,391,954 (GRCm39) missense probably damaging 1.00
R3798:Btbd16 UTSW 7 130,378,870 (GRCm39) missense probably benign 0.43
R5595:Btbd16 UTSW 7 130,425,034 (GRCm39) missense probably damaging 1.00
R5595:Btbd16 UTSW 7 130,425,033 (GRCm39) missense possibly damaging 0.52
R5839:Btbd16 UTSW 7 130,417,538 (GRCm39) critical splice donor site probably null
R5933:Btbd16 UTSW 7 130,386,011 (GRCm39) missense probably damaging 0.99
R6029:Btbd16 UTSW 7 130,420,802 (GRCm39) missense probably benign 0.17
R7255:Btbd16 UTSW 7 130,387,722 (GRCm39) missense probably benign 0.04
R7355:Btbd16 UTSW 7 130,423,173 (GRCm39) missense probably benign 0.01
R7405:Btbd16 UTSW 7 130,407,586 (GRCm39) missense probably benign 0.08
R7527:Btbd16 UTSW 7 130,422,202 (GRCm39) missense probably damaging 1.00
R7980:Btbd16 UTSW 7 130,426,097 (GRCm39) missense probably damaging 1.00
R8151:Btbd16 UTSW 7 130,398,825 (GRCm39) missense probably damaging 1.00
R8429:Btbd16 UTSW 7 130,397,067 (GRCm39) missense probably benign
R9142:Btbd16 UTSW 7 130,417,516 (GRCm39) missense probably damaging 1.00
R9143:Btbd16 UTSW 7 130,417,516 (GRCm39) missense probably damaging 1.00
R9161:Btbd16 UTSW 7 130,417,516 (GRCm39) missense probably damaging 1.00
R9214:Btbd16 UTSW 7 130,381,437 (GRCm39) critical splice donor site probably null
R9266:Btbd16 UTSW 7 130,417,516 (GRCm39) missense probably damaging 1.00
R9267:Btbd16 UTSW 7 130,417,516 (GRCm39) missense probably damaging 1.00
R9269:Btbd16 UTSW 7 130,417,516 (GRCm39) missense probably damaging 1.00
R9360:Btbd16 UTSW 7 130,417,516 (GRCm39) missense probably damaging 1.00
R9362:Btbd16 UTSW 7 130,417,516 (GRCm39) missense probably damaging 1.00
R9392:Btbd16 UTSW 7 130,417,516 (GRCm39) missense probably damaging 1.00
R9418:Btbd16 UTSW 7 130,417,516 (GRCm39) missense probably damaging 1.00
R9420:Btbd16 UTSW 7 130,417,516 (GRCm39) missense probably damaging 1.00
R9431:Btbd16 UTSW 7 130,417,516 (GRCm39) missense probably damaging 1.00
R9610:Btbd16 UTSW 7 130,407,595 (GRCm39) missense probably benign 0.05
R9611:Btbd16 UTSW 7 130,407,595 (GRCm39) missense probably benign 0.05
X0064:Btbd16 UTSW 7 130,424,900 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17