Incidental Mutation 'R2411:Btbd16'
ID 249992
Institutional Source Beutler Lab
Gene Symbol Btbd16
Ensembl Gene ENSMUSG00000040298
Gene Name BTB domain containing 16
Synonyms E330040A16Rik
MMRRC Submission 040376-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2411 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 130375799-130427629 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130391954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 160 (F160L)
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: F176L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035433
Gene: ENSMUSG00000040298
AA Change: F176L

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: F176L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000208593
AA Change: F160L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2922 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency 98% (42/43)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
4933402D24Rik A G 1: 63,795,373 (GRCm39) probably benign Het
9030612E09Rik G T 10: 43,050,796 (GRCm39) R30L possibly damaging Het
Aadacl2 A G 3: 59,924,844 (GRCm39) D137G possibly damaging Het
Acad11 T G 9: 103,963,222 (GRCm39) probably benign Het
Acap1 A T 11: 69,776,311 (GRCm39) N229K probably damaging Het
Agbl1 A G 7: 76,369,898 (GRCm39) T666A probably damaging Het
Clock A C 5: 76,379,360 (GRCm39) H525Q probably benign Het
Col6a1 G T 10: 76,546,922 (GRCm39) Q767K unknown Het
Creld1 A G 6: 113,466,737 (GRCm39) H240R probably benign Het
Dlg4 G A 11: 69,932,755 (GRCm39) probably null Het
Fam204a A T 19: 60,187,870 (GRCm39) *237R probably null Het
Filip1 T A 9: 79,805,715 (GRCm39) N13I probably damaging Het
Gm14295 G T 2: 176,499,206 (GRCm39) A19S probably benign Het
Hddc3 A T 7: 79,993,341 (GRCm39) Q56L probably damaging Het
Hes6 A C 1: 91,340,986 (GRCm39) probably null Het
Hormad1 A G 3: 95,487,326 (GRCm39) D270G probably benign Het
Ifitm1 A G 7: 140,549,711 (GRCm39) probably null Het
Igbp1b A C 6: 138,634,871 (GRCm39) V191G probably damaging Het
Impg2 T A 16: 56,072,517 (GRCm39) N316K probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Lilra6 T C 7: 3,914,453 (GRCm39) Y566C probably damaging Het
Map4k4 A G 1: 40,046,656 (GRCm39) D775G probably damaging Het
Mtmr10 A T 7: 63,947,245 (GRCm39) K53N probably damaging Het
Mybpc2 G A 7: 44,155,662 (GRCm39) R864W probably damaging Het
Nckap1l C A 15: 103,391,995 (GRCm39) P810Q probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or14c44 T C 7: 86,062,290 (GRCm39) V281A possibly damaging Het
Or1ad1 A G 11: 50,875,758 (GRCm39) T77A probably damaging Het
Or4a27 C T 2: 88,559,741 (GRCm39) M67I probably benign Het
Ppp2r3c T C 12: 55,345,269 (GRCm39) K73R probably benign Het
Ptpru A T 4: 131,498,780 (GRCm39) F1311Y probably damaging Het
Ror2 G A 13: 53,284,980 (GRCm39) P144L possibly damaging Het
Setd2 A G 9: 110,379,497 (GRCm39) E1104G possibly damaging Het
St14 G A 9: 31,019,530 (GRCm39) T97I probably benign Het
Stag3 A G 5: 138,281,290 (GRCm39) probably benign Het
Sytl3 T C 17: 7,003,892 (GRCm39) S326P probably damaging Het
Tor1b G T 2: 30,845,824 (GRCm39) S167I probably damaging Het
Ttn T A 2: 76,568,359 (GRCm39) E27511D probably damaging Het
Uso1 T A 5: 92,306,258 (GRCm39) probably benign Het
Vmn1r10 G T 6: 57,091,124 (GRCm39) V239F probably benign Het
Vps35l G C 7: 118,391,818 (GRCm39) A410P probably damaging Het
Zfp160 C T 17: 21,246,007 (GRCm39) R186C possibly damaging Het
Zfp869 A G 8: 70,159,179 (GRCm39) C465R probably damaging Het
Zfp957 T C 14: 79,451,782 (GRCm39) K6E unknown Het
Other mutations in Btbd16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Btbd16 APN 7 130,390,552 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCAGATCAGCTTTCCTTGCC -3'
(R):5'- CTCTAAGTCAGGTTTGGGACAG -3'

Sequencing Primer
(F):5'- CTTCTTCAGCAAGCTGTGGG -3'
(R):5'- CTAAGTCAGGTTTGGGACAGAGGAAC -3'
Posted On 2014-11-12