Incidental Mutation 'R5963:Btbd9'
ID 471906
Institutional Source Beutler Lab
Gene Symbol Btbd9
Ensembl Gene ENSMUSG00000062202
Gene Name BTB domain containing 9
Synonyms 1700023F20Rik
MMRRC Submission 044148-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5963 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 30434498-30795462 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 30553192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079924] [ENSMUST00000168787]
AlphaFold Q8C726
Predicted Effect probably null
Transcript: ENSMUST00000079924
SMART Domains Protein: ENSMUSP00000078845
Gene: ENSMUSG00000062202

DomainStartEndE-ValueType
BTB 36 137 3.52e-25 SMART
BACK 143 240 1.84e-18 SMART
Pfam:F5_F8_type_C 283 405 3.9e-11 PFAM
Pfam:F5_F8_type_C 431 554 6.3e-12 PFAM
low complexity region 585 612 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000168787
SMART Domains Protein: ENSMUSP00000127300
Gene: ENSMUSG00000062202

DomainStartEndE-ValueType
BTB 36 137 3.52e-25 SMART
BACK 143 240 1.84e-18 SMART
Pfam:F5_F8_type_C 278 405 1.1e-8 PFAM
Pfam:F5_F8_type_C 433 554 1.4e-8 PFAM
low complexity region 585 612 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.5%
Validation Efficiency 99% (68/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele show hyperactivity, unidirectional circling, sleep disturbances, thermal sensory alterations, increased serum iron levels, altered serotonin metabolism, enhanced long-term potentiation and paired-pulse ratios, and enhanced cued and contextual fear memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg8 A G 7: 97,029,037 (GRCm39) K131E probably benign Het
Ank3 T A 10: 69,823,056 (GRCm39) L575* probably null Het
Aqr T C 2: 113,957,442 (GRCm39) T819A probably damaging Het
Bbs2 A T 8: 94,807,659 (GRCm39) S407T probably benign Het
Bmper T A 9: 23,286,889 (GRCm39) C272S probably benign Het
C5ar1 A G 7: 15,982,747 (GRCm39) V91A possibly damaging Het
Ccdc138 A G 10: 58,411,579 (GRCm39) H649R possibly damaging Het
Cfap43 A T 19: 47,734,013 (GRCm39) V1451E probably benign Het
Cfap46 T A 7: 139,231,511 (GRCm39) M901L probably damaging Het
Cherp G T 8: 73,215,379 (GRCm39) probably benign Het
D430041D05Rik C T 2: 104,078,630 (GRCm39) V1229I possibly damaging Het
Fat4 A C 3: 39,064,696 (GRCm39) D4884A probably damaging Het
Fcrl5 T C 3: 87,351,480 (GRCm39) F243L probably damaging Het
Garem1 T A 18: 21,262,487 (GRCm39) I776F probably benign Het
Gpr87 T A 3: 59,086,690 (GRCm39) R272* probably null Het
Gsdmc A T 15: 63,651,965 (GRCm39) probably null Het
Hydin T A 8: 111,220,926 (GRCm39) F1441I possibly damaging Het
Ints11 T A 4: 155,957,369 (GRCm39) C63* probably null Het
Kdm4b A T 17: 56,706,732 (GRCm39) T908S probably damaging Het
Lipn A G 19: 34,058,700 (GRCm39) D304G probably damaging Het
Man2a1 T G 17: 64,982,117 (GRCm39) N544K probably benign Het
Mapkapk5 G T 5: 121,676,544 (GRCm39) H66N probably damaging Het
Mog G A 17: 37,323,240 (GRCm39) R233* probably null Het
Mrps24 A T 11: 5,657,481 (GRCm39) probably benign Het
Nom1 T C 5: 29,642,768 (GRCm39) L423P probably damaging Het
Or51b6 T A 7: 103,556,168 (GRCm39) V174E probably benign Het
Pcdha1 T A 18: 37,064,224 (GRCm39) V296E probably damaging Het
Pdcd2 T C 17: 15,746,656 (GRCm39) K168E possibly damaging Het
Pdcd2 G T 17: 15,746,657 (GRCm39) H167Q probably damaging Het
Pla2g12b T A 10: 59,239,780 (GRCm39) V63D probably damaging Het
Pnn C T 12: 59,114,617 (GRCm39) R56* probably null Het
Primpol T A 8: 47,046,615 (GRCm39) E227V possibly damaging Het
Rad54l A T 4: 115,967,584 (GRCm39) W233R probably damaging Het
Rims2 A T 15: 39,300,578 (GRCm39) D103V probably damaging Het
Rttn T C 18: 89,091,819 (GRCm39) S1511P probably benign Het
Septin5 T C 16: 18,442,962 (GRCm39) probably null Het
Simc1 T A 13: 54,673,632 (GRCm39) I660K possibly damaging Het
Slc15a5 A G 6: 138,056,691 (GRCm39) L75P probably damaging Het
Slc9a2 A G 1: 40,721,196 (GRCm39) S55G possibly damaging Het
Slit3 C T 11: 35,591,063 (GRCm39) R1292C probably damaging Het
Slitrk3 A G 3: 72,958,046 (GRCm39) V242A probably benign Het
St14 A T 9: 31,017,853 (GRCm39) probably benign Het
Tnnt2 T C 1: 135,771,600 (GRCm39) probably benign Het
Traf5 G A 1: 191,731,977 (GRCm39) T288I probably benign Het
Trerf1 C T 17: 47,625,263 (GRCm39) noncoding transcript Het
Vegfc A G 8: 54,634,319 (GRCm39) N333D probably benign Het
Vmn1r65 T A 7: 6,011,608 (GRCm39) I209F probably damaging Het
Vps51 A G 19: 6,118,320 (GRCm39) L725P probably damaging Het
Vps8 T C 16: 21,288,871 (GRCm39) I408T possibly damaging Het
Wdr72 T C 9: 74,052,310 (GRCm39) Y114H probably damaging Het
Ybx2 A G 11: 69,831,918 (GRCm39) E164G probably damaging Het
Zcchc14 A T 8: 122,355,362 (GRCm39) probably benign Het
Zfp383 A G 7: 29,615,103 (GRCm39) T453A possibly damaging Het
Zfp84 G T 7: 29,476,378 (GRCm39) G357C probably damaging Het
Zmynd11 G T 13: 9,745,931 (GRCm39) probably benign Het
Other mutations in Btbd9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01519:Btbd9 APN 17 30,518,575 (GRCm39) missense possibly damaging 0.71
IGL01651:Btbd9 APN 17 30,439,391 (GRCm39) missense unknown
IGL01814:Btbd9 APN 17 30,518,509 (GRCm39) missense probably benign 0.01
IGL01820:Btbd9 APN 17 30,746,383 (GRCm39) missense possibly damaging 0.82
IGL02014:Btbd9 APN 17 30,736,124 (GRCm39) missense probably damaging 0.98
IGL02075:Btbd9 APN 17 30,493,910 (GRCm39) nonsense probably null
IGL02390:Btbd9 APN 17 30,743,788 (GRCm39) missense probably benign 0.22
IGL02414:Btbd9 APN 17 30,439,533 (GRCm39) missense possibly damaging 0.95
IGL02748:Btbd9 APN 17 30,553,271 (GRCm39) missense possibly damaging 0.81
crumbs UTSW 17 30,518,710 (GRCm39) splice site probably null
grain UTSW 17 30,493,916 (GRCm39) missense possibly damaging 0.92
R0023:Btbd9 UTSW 17 30,749,188 (GRCm39) missense probably damaging 0.96
R0023:Btbd9 UTSW 17 30,749,188 (GRCm39) missense probably damaging 0.96
R0122:Btbd9 UTSW 17 30,493,916 (GRCm39) missense possibly damaging 0.92
R0123:Btbd9 UTSW 17 30,493,916 (GRCm39) missense possibly damaging 0.92
R0134:Btbd9 UTSW 17 30,493,916 (GRCm39) missense possibly damaging 0.92
R0189:Btbd9 UTSW 17 30,493,916 (GRCm39) missense possibly damaging 0.92
R0190:Btbd9 UTSW 17 30,493,916 (GRCm39) missense possibly damaging 0.92
R0226:Btbd9 UTSW 17 30,493,916 (GRCm39) missense possibly damaging 0.92
R0268:Btbd9 UTSW 17 30,493,916 (GRCm39) missense possibly damaging 0.92
R0344:Btbd9 UTSW 17 30,493,916 (GRCm39) missense possibly damaging 0.92
R0427:Btbd9 UTSW 17 30,493,916 (GRCm39) missense possibly damaging 0.92
R0462:Btbd9 UTSW 17 30,749,191 (GRCm39) missense possibly damaging 0.82
R0645:Btbd9 UTSW 17 30,743,941 (GRCm39) missense probably damaging 0.96
R0973:Btbd9 UTSW 17 30,518,607 (GRCm39) missense probably damaging 0.99
R0973:Btbd9 UTSW 17 30,518,607 (GRCm39) missense probably damaging 0.99
R0974:Btbd9 UTSW 17 30,518,607 (GRCm39) missense probably damaging 0.99
R1061:Btbd9 UTSW 17 30,746,409 (GRCm39) missense probably benign 0.00
R1763:Btbd9 UTSW 17 30,553,271 (GRCm39) missense possibly damaging 0.81
R1781:Btbd9 UTSW 17 30,732,567 (GRCm39) missense probably damaging 1.00
R1902:Btbd9 UTSW 17 30,749,202 (GRCm39) missense probably damaging 0.98
R1995:Btbd9 UTSW 17 30,493,904 (GRCm39) missense possibly damaging 0.93
R2224:Btbd9 UTSW 17 30,746,320 (GRCm39) missense probably damaging 0.98
R2237:Btbd9 UTSW 17 30,553,302 (GRCm39) missense probably benign
R3684:Btbd9 UTSW 17 30,553,281 (GRCm39) missense probably damaging 0.99
R3800:Btbd9 UTSW 17 30,732,633 (GRCm39) missense possibly damaging 0.89
R4403:Btbd9 UTSW 17 30,704,906 (GRCm39) intron probably benign
R4492:Btbd9 UTSW 17 30,746,545 (GRCm39) missense probably damaging 0.99
R4654:Btbd9 UTSW 17 30,704,561 (GRCm39) intron probably benign
R4854:Btbd9 UTSW 17 30,743,839 (GRCm39) missense probably damaging 0.98
R5710:Btbd9 UTSW 17 30,447,842 (GRCm39) missense probably benign 0.16
R6295:Btbd9 UTSW 17 30,518,710 (GRCm39) splice site probably null
R6422:Btbd9 UTSW 17 30,749,230 (GRCm39) missense probably benign
R7023:Btbd9 UTSW 17 30,746,546 (GRCm39) missense probably benign 0.02
R7826:Btbd9 UTSW 17 30,553,301 (GRCm39) missense probably benign 0.42
R7922:Btbd9 UTSW 17 30,493,858 (GRCm39) missense probably benign 0.01
R7962:Btbd9 UTSW 17 30,736,177 (GRCm39) missense probably damaging 0.99
R8265:Btbd9 UTSW 17 30,553,278 (GRCm39) missense possibly damaging 0.86
R8786:Btbd9 UTSW 17 30,749,144 (GRCm39) missense probably damaging 0.97
R9541:Btbd9 UTSW 17 30,439,438 (GRCm39) missense possibly damaging 0.96
R9591:Btbd9 UTSW 17 30,736,222 (GRCm39) missense probably damaging 1.00
R9703:Btbd9 UTSW 17 30,749,200 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CGGAGCAATTCCCAAAATGATTC -3'
(R):5'- ACTGTGTCTGGTCCATGTGC -3'

Sequencing Primer
(F):5'- TGATTCCAATGCTTAGCTAGAGC -3'
(R):5'- TGGTCCATGTGCCTGCC -3'
Posted On 2017-03-31