Incidental Mutation 'IGL02237:Kbtbd2'
ID 285919
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kbtbd2
Ensembl Gene ENSMUSG00000059486
Gene Name kelch repeat and BTB (POZ) domain containing 2
Synonyms Bklhd1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02237
Quality Score
Status
Chromosome 6
Chromosomal Location 56754510-56774798 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56756033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 568 (S568T)
Ref Sequence ENSEMBL: ENSMUSP00000109962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114321] [ENSMUST00000114323]
AlphaFold G3X9X1
Predicted Effect possibly damaging
Transcript: ENSMUST00000114321
AA Change: S568T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109960
Gene: ENSMUSG00000059486
AA Change: S568T

DomainStartEndE-ValueType
BTB 31 128 1.5e-28 SMART
BACK 133 235 7.34e-27 SMART
Kelch 317 380 7.31e0 SMART
Kelch 381 429 4.33e-4 SMART
Kelch 430 469 2.7e0 SMART
Kelch 470 532 7.7e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114323
AA Change: S568T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109962
Gene: ENSMUSG00000059486
AA Change: S568T

DomainStartEndE-ValueType
BTB 31 128 1.5e-28 SMART
BACK 133 235 7.34e-27 SMART
Kelch 317 380 7.31e0 SMART
Kelch 381 429 4.33e-4 SMART
Kelch 430 469 2.7e0 SMART
Kelch 470 532 7.7e0 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele or mutation exhibit diabetes, lipodystrophy, and hepatic steatosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b T A 2: 181,135,350 (GRCm39) V84E probably benign Het
Adam39 A T 8: 41,278,482 (GRCm39) E291V probably benign Het
Ak5 T A 3: 152,204,980 (GRCm39) D372V probably benign Het
Brpf1 C T 6: 113,287,336 (GRCm39) P188L probably damaging Het
Cacna2d3 C T 14: 29,068,954 (GRCm39) V258I probably benign Het
Cd14 A G 18: 36,858,912 (GRCm39) F181S probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cts6 A T 13: 61,345,313 (GRCm39) D261E probably benign Het
Daam1 A G 12: 72,029,495 (GRCm39) T897A probably benign Het
Ddx25 T A 9: 35,453,365 (GRCm39) probably benign Het
Ddx55 A G 5: 124,705,958 (GRCm39) E461G probably damaging Het
Degs1 T C 1: 182,107,253 (GRCm39) K2R probably damaging Het
Drc7 C T 8: 95,799,507 (GRCm39) L561F probably damaging Het
Eif4enif1 A T 11: 3,177,876 (GRCm39) K423* probably null Het
Epha7 A G 4: 28,949,325 (GRCm39) probably null Het
Erich5 A C 15: 34,471,482 (GRCm39) E237A probably benign Het
Ficd A G 5: 113,876,373 (GRCm39) T183A probably damaging Het
Foxb2 T C 19: 16,850,908 (GRCm39) M33V unknown Het
Gja8 T G 3: 96,827,249 (GRCm39) S138R probably benign Het
Gm28042 T G 2: 119,870,380 (GRCm39) L743V possibly damaging Het
Gtf3c2 A T 5: 31,316,397 (GRCm39) probably benign Het
Itga11 T C 9: 62,663,057 (GRCm39) probably null Het
Kazn A T 4: 141,874,410 (GRCm39) D315E probably benign Het
Man1c1 A C 4: 134,311,609 (GRCm39) probably null Het
Myh9 A G 15: 77,670,854 (GRCm39) S463P probably benign Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Oog2 T A 4: 143,923,016 (GRCm39) F427Y possibly damaging Het
Pcmtd1 T C 1: 7,233,601 (GRCm39) probably null Het
Pcnt C A 10: 76,188,818 (GRCm39) D2861Y probably damaging Het
Pdzd7 C T 19: 45,028,697 (GRCm39) A149T probably damaging Het
Pebp4 A T 14: 70,297,105 (GRCm39) T215S possibly damaging Het
Pgm1 T C 4: 99,820,707 (GRCm39) probably benign Het
Plekhh2 T A 17: 84,883,213 (GRCm39) D760E probably benign Het
Pomt1 T C 2: 32,135,689 (GRCm39) I351T probably benign Het
Ptpn21 C T 12: 98,671,351 (GRCm39) probably null Het
Rsad2 T G 12: 26,506,186 (GRCm39) Y78S probably damaging Het
Rsbn1l A T 5: 21,124,604 (GRCm39) N399K probably benign Het
Sec31a A G 5: 100,509,914 (GRCm39) V1191A probably damaging Het
Sema6c C T 3: 95,077,430 (GRCm39) P414L probably damaging Het
Serpinb5 T C 1: 106,808,056 (GRCm39) S69P probably benign Het
Slc25a13 C T 6: 6,042,646 (GRCm39) R586H probably damaging Het
Spink5 T A 18: 44,145,934 (GRCm39) M776K probably benign Het
Srcap A G 7: 127,133,864 (GRCm39) probably benign Het
Stt3a G A 9: 36,660,933 (GRCm39) Q293* probably null Het
Syne4 T A 7: 30,015,988 (GRCm39) probably null Het
Tomm40l C T 1: 171,048,463 (GRCm39) V97M possibly damaging Het
Trpc4 C T 3: 54,129,783 (GRCm39) S183F probably damaging Het
Ttn C T 2: 76,716,478 (GRCm39) probably benign Het
Ufl1 A C 4: 25,269,082 (GRCm39) S170A probably benign Het
Vmn2r66 G A 7: 84,643,908 (GRCm39) T834I probably benign Het
Vmn2r75 A G 7: 85,814,786 (GRCm39) S236P possibly damaging Het
Zfp345 A T 2: 150,316,805 (GRCm39) probably benign Het
Zfp955b T C 17: 33,520,893 (GRCm39) S121P probably damaging Het
Other mutations in Kbtbd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
infinitesimal UTSW 6 56,756,075 (GRCm39) missense probably damaging 1.00
teeny UTSW 6 56,757,374 (GRCm39) nonsense probably null
tiny UTSW 6 56,756,191 (GRCm39) missense probably damaging 0.99
R0491:Kbtbd2 UTSW 6 56,757,374 (GRCm39) nonsense probably null
R1452:Kbtbd2 UTSW 6 56,758,909 (GRCm39) missense probably damaging 0.98
R1696:Kbtbd2 UTSW 6 56,756,326 (GRCm39) missense probably benign 0.00
R2146:Kbtbd2 UTSW 6 56,756,075 (GRCm39) missense probably damaging 1.00
R4563:Kbtbd2 UTSW 6 56,766,264 (GRCm39) missense probably benign
R4579:Kbtbd2 UTSW 6 56,755,893 (GRCm39) missense probably damaging 0.99
R4702:Kbtbd2 UTSW 6 56,756,288 (GRCm39) missense probably benign 0.00
R4855:Kbtbd2 UTSW 6 56,756,687 (GRCm39) missense probably benign 0.01
R4959:Kbtbd2 UTSW 6 56,758,943 (GRCm39) missense probably benign 0.11
R4973:Kbtbd2 UTSW 6 56,758,943 (GRCm39) missense probably benign 0.11
R5096:Kbtbd2 UTSW 6 56,756,260 (GRCm39) missense probably benign 0.06
R6360:Kbtbd2 UTSW 6 56,756,191 (GRCm39) missense probably damaging 0.99
R6754:Kbtbd2 UTSW 6 56,756,239 (GRCm39) missense probably damaging 0.99
R6864:Kbtbd2 UTSW 6 56,757,011 (GRCm39) nonsense probably null
R6900:Kbtbd2 UTSW 6 56,757,008 (GRCm39) missense probably damaging 1.00
R7738:Kbtbd2 UTSW 6 56,756,722 (GRCm39) missense possibly damaging 0.92
R8409:Kbtbd2 UTSW 6 56,757,341 (GRCm39) missense probably damaging 0.97
R9203:Kbtbd2 UTSW 6 56,755,987 (GRCm39) missense probably damaging 0.98
R9213:Kbtbd2 UTSW 6 56,756,917 (GRCm39) missense probably damaging 1.00
R9278:Kbtbd2 UTSW 6 56,757,331 (GRCm39) missense probably damaging 0.99
R9280:Kbtbd2 UTSW 6 56,755,997 (GRCm39) missense probably damaging 1.00
R9427:Kbtbd2 UTSW 6 56,756,132 (GRCm39) missense probably damaging 0.99
R9715:Kbtbd2 UTSW 6 56,756,566 (GRCm39) missense probably benign 0.00
Z1176:Kbtbd2 UTSW 6 56,757,294 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16