Incidental Mutation 'IGL02982:Kbtbd8'
ID 406591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kbtbd8
Ensembl Gene ENSMUSG00000030031
Gene Name kelch repeat and BTB (POZ) domain containing 8
Synonyms SSEC-51, SSEC51, Takrp, SSEC 51
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # IGL02982
Quality Score
Status
Chromosome 6
Chromosomal Location 95094861-95106774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 95103547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 399 (V399L)
Ref Sequence ENSEMBL: ENSMUSP00000113739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032107] [ENSMUST00000119582] [ENSMUST00000122938]
AlphaFold Q3UQV5
Predicted Effect probably benign
Transcript: ENSMUST00000032107
AA Change: V476L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031
AA Change: V476L

DomainStartEndE-ValueType
BTB 49 147 7.37e-28 SMART
BACK 152 254 1.37e-26 SMART
Kelch 334 388 2.63e-3 SMART
Kelch 389 439 6.13e-4 SMART
Kelch 480 530 5.06e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119582
AA Change: V399L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113739
Gene: ENSMUSG00000030031
AA Change: V399L

DomainStartEndE-ValueType
Pfam:BTB 1 70 5.1e-14 PFAM
BACK 75 177 1.37e-26 SMART
Kelch 257 311 2.63e-3 SMART
Kelch 312 362 6.13e-4 SMART
Blast:Kelch 364 402 4e-18 BLAST
Kelch 403 453 5.06e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122938
SMART Domains Protein: ENSMUSP00000145009
Gene: ENSMUSG00000030031

DomainStartEndE-ValueType
BTB 65 142 1.4e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145387
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 25,294,447 (GRCm39) A384D probably benign Het
Adamts19 T A 18: 59,157,590 (GRCm39) C961S probably damaging Het
Agbl2 G A 2: 90,636,159 (GRCm39) C565Y probably damaging Het
Aox3 G A 1: 58,166,846 (GRCm39) E190K probably benign Het
Arf2 T G 11: 103,872,602 (GRCm39) D74E probably damaging Het
Bptf T G 11: 106,967,500 (GRCm39) D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Ces1a A G 8: 93,771,603 (GRCm39) F65L probably damaging Het
Def8 T C 8: 124,183,278 (GRCm39) probably benign Het
Fat4 T C 3: 38,944,992 (GRCm39) L1295P probably damaging Het
Filip1l A G 16: 57,392,595 (GRCm39) H1061R probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gldc A G 19: 30,122,545 (GRCm39) probably null Het
Golgb1 A C 16: 36,746,172 (GRCm39) D2917A probably damaging Het
Gpc5 G A 14: 115,607,400 (GRCm39) C334Y probably damaging Het
Gpsm1 T A 2: 26,214,871 (GRCm39) L252Q probably damaging Het
Iars1 C T 13: 49,863,185 (GRCm39) R546C probably benign Het
Kcnd2 A T 6: 21,217,148 (GRCm39) D284V probably damaging Het
Kcnj6 T C 16: 94,633,376 (GRCm39) K227R possibly damaging Het
Lhx9 A T 1: 138,766,349 (GRCm39) H155Q probably damaging Het
Mcm9 A G 10: 53,501,922 (GRCm39) V221A probably damaging Het
Myo9a A T 9: 59,815,491 (GRCm39) K2237* probably null Het
Ntf3 A T 6: 126,079,340 (GRCm39) D55E probably damaging Het
Or13a28 A T 7: 140,217,865 (GRCm39) I84F probably benign Het
Or4c15b G T 2: 89,113,453 (GRCm39) T29K probably damaging Het
Plek T A 11: 16,931,826 (GRCm39) I342F probably damaging Het
Polrmt A G 10: 79,574,182 (GRCm39) Y853H probably damaging Het
Psg29 A G 7: 16,945,632 (GRCm39) T401A probably damaging Het
Ptprb A G 10: 116,158,533 (GRCm39) T822A probably benign Het
Ptprq A C 10: 107,422,545 (GRCm39) F1616V probably damaging Het
Rpe65 T A 3: 159,305,998 (GRCm39) V19E probably damaging Het
Scamp2 G A 9: 57,488,832 (GRCm39) A178T probably benign Het
Spata31e5 T C 1: 28,817,135 (GRCm39) H299R probably damaging Het
Spta1 A G 1: 174,014,854 (GRCm39) I445V probably benign Het
Tas2r135 A G 6: 42,383,187 (GRCm39) E242G probably benign Het
Ttc22 T C 4: 106,495,783 (GRCm39) V379A probably damaging Het
Unc5d C T 8: 29,142,881 (GRCm39) G857E probably damaging Het
Usp28 A G 9: 48,929,739 (GRCm39) I43V probably benign Het
Vmn2r68 A T 7: 84,883,649 (GRCm39) M152K probably benign Het
Wrn C T 8: 33,833,094 (GRCm39) G133R probably damaging Het
Zfyve26 G A 12: 79,310,644 (GRCm39) T187M probably damaging Het
Zic2 A G 14: 122,715,979 (GRCm39) E367G probably damaging Het
Other mutations in Kbtbd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Kbtbd8 APN 6 95,103,494 (GRCm39) missense probably damaging 1.00
IGL01382:Kbtbd8 APN 6 95,099,211 (GRCm39) missense probably damaging 1.00
IGL01459:Kbtbd8 APN 6 95,099,789 (GRCm39) missense probably benign 0.10
IGL01656:Kbtbd8 APN 6 95,095,657 (GRCm39) missense probably benign 0.02
IGL02100:Kbtbd8 APN 6 95,099,663 (GRCm39) missense probably damaging 1.00
IGL02133:Kbtbd8 APN 6 95,098,713 (GRCm39) splice site probably benign
IGL02532:Kbtbd8 APN 6 95,103,517 (GRCm39) missense probably benign 0.17
IGL03074:Kbtbd8 APN 6 95,099,333 (GRCm39) missense probably damaging 0.99
R0782:Kbtbd8 UTSW 6 95,099,213 (GRCm39) missense probably damaging 1.00
R2075:Kbtbd8 UTSW 6 95,103,664 (GRCm39) missense possibly damaging 0.47
R2329:Kbtbd8 UTSW 6 95,103,761 (GRCm39) missense probably benign 0.00
R2698:Kbtbd8 UTSW 6 95,103,570 (GRCm39) nonsense probably null
R3906:Kbtbd8 UTSW 6 95,103,565 (GRCm39) missense probably damaging 1.00
R4276:Kbtbd8 UTSW 6 95,103,914 (GRCm39) missense probably damaging 0.99
R4915:Kbtbd8 UTSW 6 95,103,515 (GRCm39) missense possibly damaging 0.95
R5141:Kbtbd8 UTSW 6 95,098,820 (GRCm39) missense probably damaging 1.00
R5294:Kbtbd8 UTSW 6 95,098,813 (GRCm39) nonsense probably null
R5779:Kbtbd8 UTSW 6 95,095,515 (GRCm39) missense probably benign
R6645:Kbtbd8 UTSW 6 95,103,730 (GRCm39) nonsense probably null
R7073:Kbtbd8 UTSW 6 95,098,814 (GRCm39) missense probably damaging 1.00
R7161:Kbtbd8 UTSW 6 95,103,677 (GRCm39) missense probably benign 0.30
R7600:Kbtbd8 UTSW 6 95,099,573 (GRCm39) missense probably damaging 1.00
R7731:Kbtbd8 UTSW 6 95,095,559 (GRCm39) missense probably benign 0.00
R9156:Kbtbd8 UTSW 6 95,099,825 (GRCm39) nonsense probably null
R9617:Kbtbd8 UTSW 6 95,103,874 (GRCm39) missense possibly damaging 0.88
R9747:Kbtbd8 UTSW 6 95,098,838 (GRCm39) missense possibly damaging 0.62
Posted On 2016-08-02