Incidental Mutation 'IGL02532:Kbtbd8'
ID 297350
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 # IGL02532
Quality Score
Status
Chromosome 6
Chromosomal Location 95094861-95106774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95103517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 389 (T389A)
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: T466A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031
AA Change: T466A

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: T389A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113739
Gene: ENSMUSG00000030031
AA Change: T389A

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik T C 7: 28,947,645 (GRCm39) K15E possibly damaging Het
Abca2 A G 2: 25,325,148 (GRCm39) T381A probably benign Het
Adcy1 T A 11: 7,094,737 (GRCm39) N554K probably benign Het
Adcy5 A G 16: 35,092,453 (GRCm39) I605V possibly damaging Het
Arhgap11a G T 2: 113,664,021 (GRCm39) S754* probably null Het
Arhgef28 T A 13: 98,166,391 (GRCm39) D319V probably damaging Het
Brca2 A G 5: 150,474,327 (GRCm39) D2410G probably damaging Het
Carmil2 T A 8: 106,419,063 (GRCm39) probably null Het
Catip A G 1: 74,403,775 (GRCm39) N189S probably damaging Het
Cd177 T C 7: 24,444,674 (GRCm39) K636E probably benign Het
Cep290 A G 10: 100,380,927 (GRCm39) T145A probably benign Het
Cthrc1 T C 15: 38,940,560 (GRCm39) probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fas C A 19: 34,293,999 (GRCm39) T118N probably damaging Het
Fgd3 G A 13: 49,439,237 (GRCm39) A253V probably damaging Het
Fig4 A G 10: 41,161,277 (GRCm39) probably benign Het
Fubp3 T C 2: 31,490,571 (GRCm39) probably benign Het
Gria2 T A 3: 80,614,306 (GRCm39) E578V probably damaging Het
Gtpbp1 T A 15: 79,604,278 (GRCm39) V662E probably benign Het
Hbb-bt T C 7: 103,463,081 (GRCm39) probably benign Het
Ighv6-5 T A 12: 114,380,424 (GRCm39) D50V probably benign Het
Inpp5k T C 11: 75,524,010 (GRCm39) probably benign Het
Kalrn T C 16: 34,181,216 (GRCm39) N141D probably damaging Het
Klhl6 C A 16: 19,775,832 (GRCm39) R242L possibly damaging Het
Kmt2b T C 7: 30,286,314 (GRCm39) probably benign Het
Krt13 A T 11: 100,010,195 (GRCm39) L262Q probably damaging Het
Lingo2 T C 4: 35,709,171 (GRCm39) K270E possibly damaging Het
Mroh7 A G 4: 106,577,788 (GRCm39) S297P probably benign Het
Ndufs1 G A 1: 63,209,298 (GRCm39) R22C probably damaging Het
Nlrp5 T A 7: 23,109,398 (GRCm39) S115T possibly damaging Het
Nup50l A C 6: 96,141,771 (GRCm39) S424R probably damaging Het
Pfpl A T 19: 12,406,209 (GRCm39) R153S probably damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Psme1 T A 14: 55,818,595 (GRCm39) Y223* probably null Het
R3hdm1 T C 1: 128,124,836 (GRCm39) probably null Het
Rnf103 A G 6: 71,486,809 (GRCm39) D480G probably benign Het
Rnf103 T G 6: 71,486,636 (GRCm39) S422R probably damaging Het
Rps6ka2 T C 17: 7,523,365 (GRCm39) V213A probably damaging Het
Sort1 G T 3: 108,233,036 (GRCm39) K203N probably benign Het
Sugp1 A T 8: 70,512,469 (GRCm39) K239N possibly damaging Het
Sult2a8 C T 7: 14,150,183 (GRCm39) R176K probably benign Het
Usp34 T A 11: 23,320,291 (GRCm39) N888K probably damaging Het
Vmn1r4 A C 6: 56,934,135 (GRCm39) H213P possibly damaging Het
Wdr45b G T 11: 121,219,639 (GRCm39) T303K probably benign 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
IGL02982:Kbtbd8 APN 6 95,103,547 (GRCm39) missense probably benign 0.01
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 2015-04-16