Incidental Mutation 'IGL02619:Kbtbd3'
ID 300775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kbtbd3
Ensembl Gene ENSMUSG00000025893
Gene Name kelch repeat and BTB (POZ) domain containing 3
Synonyms Bklhd3, 2200003A07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # IGL02619
Quality Score
Status
Chromosome 9
Chromosomal Location 4309833-4331732 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4331252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 542 (A542V)
Ref Sequence ENSEMBL: ENSMUSP00000148445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049648] [ENSMUST00000212221]
AlphaFold Q8BHI4
Predicted Effect probably damaging
Transcript: ENSMUST00000049648
AA Change: A542V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: A542V

DomainStartEndE-ValueType
BTB 48 145 1.83e-23 SMART
BACK 150 252 1.19e-26 SMART
Blast:Kelch 292 338 7e-15 BLAST
Kelch 339 399 2.56e0 SMART
Kelch 400 450 8.67e-4 SMART
Kelch 548 597 3.3e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000212221
AA Change: A542V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 C T 1: 179,620,016 (GRCm39) G220E possibly damaging Het
Arhgef10l A G 4: 140,321,504 (GRCm39) I101T probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Camkk2 A T 5: 122,902,298 (GRCm39) C4S probably damaging Het
Ccdc174 T A 6: 91,876,538 (GRCm39) D458E possibly damaging Het
Cercam A G 2: 29,770,686 (GRCm39) N419S probably benign Het
Clca3a2 T C 3: 144,512,083 (GRCm39) N551S probably damaging Het
Cldn18 T A 9: 99,580,988 (GRCm39) I87F probably damaging Het
Ctso T A 3: 81,848,836 (GRCm39) probably benign Het
Ddhd2 C A 8: 26,236,981 (GRCm39) probably null Het
Dscaml1 T A 9: 45,359,094 (GRCm39) Y118N probably damaging Het
Ece1 C T 4: 137,666,044 (GRCm39) A296V probably benign Het
Fbxo40 T A 16: 36,790,766 (GRCm39) I115F possibly damaging Het
Fkbp9 T A 6: 56,827,609 (GRCm39) N143K probably damaging Het
Foxk2 G T 11: 121,190,402 (GRCm39) probably benign Het
Ggnbp1 A G 17: 27,248,529 (GRCm39) K33E probably benign Het
Hace1 A T 10: 45,547,530 (GRCm39) probably benign Het
Hk3 A T 13: 55,162,107 (GRCm39) C133S probably damaging Het
Lrch2 A C X: 146,263,537 (GRCm39) V363G probably damaging Het
Lrch2 C T X: 146,302,131 (GRCm39) C264Y probably damaging Het
Lrrc56 C A 7: 140,787,546 (GRCm39) probably benign Het
Lrtm2 C T 6: 119,294,199 (GRCm39) V311M probably damaging Het
N4bp1 G T 8: 87,587,529 (GRCm39) Q470K probably benign Het
Naa15 A C 3: 51,367,552 (GRCm39) D575A probably benign Het
Ncaph A T 2: 126,969,456 (GRCm39) V69D probably damaging Het
Nlrp5 G A 7: 23,123,489 (GRCm39) probably null Het
Nmbr A G 10: 14,636,331 (GRCm39) D100G probably damaging Het
Ofcc1 C T 13: 40,250,553 (GRCm39) V588M possibly damaging Het
Or4b13 G T 2: 90,082,849 (GRCm39) T161N probably damaging Het
Or5p4 C A 7: 107,680,949 (GRCm39) probably benign Het
Osmr C A 15: 6,871,475 (GRCm39) R314M probably damaging Het
Pcdhb16 C T 18: 37,611,270 (GRCm39) Q77* probably null Het
Pglyrp4 G A 3: 90,642,955 (GRCm39) probably null Het
Ptprh A G 7: 4,552,498 (GRCm39) F922S probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rp1 T A 1: 4,418,673 (GRCm39) Q813L possibly damaging Het
Sgtb A G 13: 104,254,922 (GRCm39) N64S probably benign Het
Slc5a12 T C 2: 110,471,201 (GRCm39) V481A probably benign Het
Slitrk1 A G 14: 109,149,349 (GRCm39) V454A probably benign Het
Sntg2 C A 12: 30,317,025 (GRCm39) probably null Het
Synj1 C T 16: 90,770,933 (GRCm39) V499I probably damaging Het
Tmco1 T C 1: 167,153,597 (GRCm39) probably benign Het
Tmem38b T C 4: 53,848,871 (GRCm39) I92T probably damaging Het
Tmem9 T C 1: 135,955,145 (GRCm39) V93A probably benign Het
Ttn T A 2: 76,625,582 (GRCm39) R15080S possibly damaging Het
Ube2e3 T C 2: 78,749,065 (GRCm39) I138T probably damaging Het
Urgcp A G 11: 5,665,752 (GRCm39) I862T possibly damaging Het
Vmn1r68 A T 7: 10,261,603 (GRCm39) I165N probably benign Het
Washc4 G A 10: 83,394,717 (GRCm39) V316I possibly damaging Het
Zfp111 A T 7: 23,899,113 (GRCm39) L166Q possibly damaging Het
Zfyve1 A T 12: 83,597,718 (GRCm39) probably benign Het
Zscan18 A G 7: 12,508,793 (GRCm39) probably benign Het
Other mutations in Kbtbd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00642:Kbtbd3 APN 9 4,330,169 (GRCm39) missense probably benign
IGL00674:Kbtbd3 APN 9 4,329,949 (GRCm39) missense probably benign 0.05
IGL00848:Kbtbd3 APN 9 4,331,184 (GRCm39) missense probably damaging 1.00
IGL01949:Kbtbd3 APN 9 4,331,066 (GRCm39) missense possibly damaging 0.95
IGL02830:Kbtbd3 APN 9 4,330,096 (GRCm39) missense possibly damaging 0.95
IGL02894:Kbtbd3 APN 9 4,331,444 (GRCm39) missense probably benign 0.05
R0239:Kbtbd3 UTSW 9 4,330,144 (GRCm39) missense possibly damaging 0.62
R0239:Kbtbd3 UTSW 9 4,330,144 (GRCm39) missense possibly damaging 0.62
R0348:Kbtbd3 UTSW 9 4,330,519 (GRCm39) missense possibly damaging 0.94
R0372:Kbtbd3 UTSW 9 4,316,950 (GRCm39) missense possibly damaging 0.75
R0380:Kbtbd3 UTSW 9 4,330,545 (GRCm39) nonsense probably null
R0644:Kbtbd3 UTSW 9 4,329,868 (GRCm39) missense probably damaging 1.00
R1496:Kbtbd3 UTSW 9 4,330,276 (GRCm39) missense probably benign
R1651:Kbtbd3 UTSW 9 4,330,589 (GRCm39) missense possibly damaging 0.62
R1707:Kbtbd3 UTSW 9 4,316,985 (GRCm39) missense probably benign 0.01
R1998:Kbtbd3 UTSW 9 4,330,760 (GRCm39) missense probably benign 0.01
R2012:Kbtbd3 UTSW 9 4,330,919 (GRCm39) missense probably benign
R2027:Kbtbd3 UTSW 9 4,317,075 (GRCm39) splice site probably benign
R3717:Kbtbd3 UTSW 9 4,330,598 (GRCm39) missense probably benign
R4463:Kbtbd3 UTSW 9 4,331,257 (GRCm39) missense probably damaging 0.99
R4482:Kbtbd3 UTSW 9 4,331,051 (GRCm39) missense probably damaging 1.00
R4795:Kbtbd3 UTSW 9 4,331,073 (GRCm39) nonsense probably null
R5195:Kbtbd3 UTSW 9 4,316,905 (GRCm39) missense possibly damaging 0.74
R5645:Kbtbd3 UTSW 9 4,331,426 (GRCm39) missense possibly damaging 0.92
R5753:Kbtbd3 UTSW 9 4,331,404 (GRCm39) missense possibly damaging 0.74
R5898:Kbtbd3 UTSW 9 4,330,476 (GRCm39) missense probably damaging 0.97
R6463:Kbtbd3 UTSW 9 4,316,921 (GRCm39) missense probably benign
R6681:Kbtbd3 UTSW 9 4,330,687 (GRCm39) missense probably benign 0.00
R7284:Kbtbd3 UTSW 9 4,330,690 (GRCm39) nonsense probably null
R7390:Kbtbd3 UTSW 9 4,330,424 (GRCm39) missense probably benign 0.27
R7735:Kbtbd3 UTSW 9 4,330,846 (GRCm39) missense possibly damaging 0.89
R7793:Kbtbd3 UTSW 9 4,331,221 (GRCm39) missense probably damaging 1.00
R7950:Kbtbd3 UTSW 9 4,316,878 (GRCm39) nonsense probably null
R8005:Kbtbd3 UTSW 9 4,330,655 (GRCm39) missense probably damaging 1.00
R8050:Kbtbd3 UTSW 9 4,330,408 (GRCm39) missense probably benign 0.43
R8213:Kbtbd3 UTSW 9 4,331,269 (GRCm39) missense probably damaging 0.99
R9163:Kbtbd3 UTSW 9 4,330,584 (GRCm39) missense probably benign 0.30
X0024:Kbtbd3 UTSW 9 4,331,437 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16