Incidental Mutation 'IGL01735:Kbtbd6'
ID105660
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kbtbd6
Ensembl Gene ENSMUSG00000075502
Gene Namekelch repeat and BTB (POZ) domain containing 6
SynonymsGm5465
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #IGL01735
Quality Score
Status
Chromosome14
Chromosomal Location79451835-79454818 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79453449 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 465 (V465A)
Ref Sequence ENSEMBL: ENSMUSP00000154099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100359] [ENSMUST00000226192]
Predicted Effect possibly damaging
Transcript: ENSMUST00000100359
AA Change: V528A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097929
Gene: ENSMUSG00000075502
AA Change: V528A

DomainStartEndE-ValueType
low complexity region 51 60 N/A INTRINSIC
Blast:BTB 74 107 3e-11 BLAST
BTB 126 231 1.05e-23 SMART
BACK 236 342 7.58e-20 SMART
low complexity region 380 395 N/A INTRINSIC
SCOP:d1k3ia3 475 541 2e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000226192
AA Change: V465A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A T 12: 4,201,213 M612L probably benign Het
Adhfe1 C A 1: 9,548,148 T19K possibly damaging Het
Atxn1 C T 13: 45,566,722 V566M probably damaging Het
Bag6 T C 17: 35,145,761 probably benign Het
Cdkl1 T G 12: 69,750,740 Y258S probably benign Het
Chil6 A T 3: 106,388,688 probably null Het
Clcn7 T C 17: 25,151,116 F326L probably benign Het
Cngb3 A G 4: 19,415,648 Y386C probably damaging Het
Dnah6 C A 6: 73,076,660 E2916* probably null Het
Dnhd1 A G 7: 105,713,754 E3841G probably benign Het
Fat1 G T 8: 45,036,239 V3493L probably benign Het
Gm13103 A G 4: 143,851,831 I220M probably damaging Het
Irx5 A T 8: 92,360,703 H421L probably damaging Het
Kcp T A 6: 29,498,879 N340I probably damaging Het
Klhdc2 A G 12: 69,300,279 M73V probably benign Het
Lpar1 A G 4: 58,437,407 S341P probably damaging Het
Lrba G A 3: 86,327,661 V838I probably benign Het
Med12l A G 3: 59,263,254 I1652V probably damaging Het
Myo5c A T 9: 75,301,438 D1677V probably damaging Het
Ncoa2 A T 1: 13,164,903 N935K probably benign Het
Nfrkb T C 9: 31,410,139 S711P possibly damaging Het
Olfr1140 A G 2: 87,746,306 I37V probably benign Het
Olfr352 C A 2: 36,869,686 T40K possibly damaging Het
Olfr608 T C 7: 103,470,323 F95L probably damaging Het
Prl7d1 A G 13: 27,714,389 F47L possibly damaging Het
Ptprd A C 4: 76,136,820 probably null Het
Rsph14 C A 10: 75,025,160 G103C probably damaging Het
Slco1a4 A G 6: 141,817,751 F413S probably benign Het
Slfn9 A G 11: 82,982,332 Y582H probably damaging Het
Tcirg1 A T 19: 3,904,210 probably benign Het
Trac G A 14: 54,222,981 probably benign Het
Wbp2nl G T 15: 82,313,816 V185L probably benign Het
Other mutations in Kbtbd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00559:Kbtbd6 APN 14 79453248 missense probably damaging 0.97
IGL01348:Kbtbd6 APN 14 79453343 missense probably damaging 0.99
IGL02441:Kbtbd6 APN 14 79453319 missense probably benign
R0145:Kbtbd6 UTSW 14 79453024 missense probably benign 0.06
R0316:Kbtbd6 UTSW 14 79453024 missense probably benign 0.06
R0731:Kbtbd6 UTSW 14 79451884 nonsense probably null
R1776:Kbtbd6 UTSW 14 79452605 missense probably benign 0.23
R4705:Kbtbd6 UTSW 14 79452606 missense probably benign 0.01
R4749:Kbtbd6 UTSW 14 79453287 missense possibly damaging 0.95
R4772:Kbtbd6 UTSW 14 79452156 missense probably damaging 0.99
R4986:Kbtbd6 UTSW 14 79452609 missense probably damaging 0.98
R6107:Kbtbd6 UTSW 14 79453113 missense probably damaging 0.99
Posted On2014-01-21