Incidental Mutation 'IGL01151:Kbtbd11'
ID 51845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kbtbd11
Ensembl Gene ENSMUSG00000055675
Gene Name kelch repeat and BTB (POZ) domain containing 11
Synonyms 4930465M17Rik, 2900016B01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL01151
Quality Score
Status
Chromosome 8
Chromosomal Location 15061025-15083333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 15079176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 592 (D592Y)
Ref Sequence ENSEMBL: ENSMUSP00000139292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069399] [ENSMUST00000183471]
AlphaFold Q8BNW9
Predicted Effect probably damaging
Transcript: ENSMUST00000069399
AA Change: D592Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068321
Gene: ENSMUSG00000055675
AA Change: D592Y

DomainStartEndE-ValueType
low complexity region 61 73 N/A INTRINSIC
low complexity region 88 114 N/A INTRINSIC
BTB 146 237 1.74e-15 SMART
low complexity region 289 311 N/A INTRINSIC
Blast:BTB 318 358 2e-16 BLAST
Kelch 366 418 5.26e-3 SMART
Kelch 419 463 4.65e-4 SMART
Kelch 464 506 1.71e-1 SMART
low complexity region 524 532 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183471
AA Change: D592Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139292
Gene: ENSMUSG00000055675
AA Change: D592Y

DomainStartEndE-ValueType
low complexity region 61 73 N/A INTRINSIC
low complexity region 88 114 N/A INTRINSIC
BTB 146 237 1.74e-15 SMART
low complexity region 289 311 N/A INTRINSIC
Blast:BTB 318 358 2e-16 BLAST
Kelch 366 418 5.26e-3 SMART
Kelch 419 463 4.65e-4 SMART
Kelch 464 506 1.71e-1 SMART
low complexity region 524 532 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192473
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,553,518 (GRCm39) Q5452R probably benign Het
Ankrd42 A G 7: 92,254,408 (GRCm39) probably benign Het
Camk2g T C 14: 20,816,027 (GRCm39) D157G probably damaging Het
Cd55b A T 1: 130,350,643 (GRCm39) V18E possibly damaging Het
Ep300 T A 15: 81,507,673 (GRCm39) probably benign Het
Fbxw26 A G 9: 109,550,848 (GRCm39) V393A possibly damaging Het
Fkbp4 T C 6: 128,412,754 (GRCm39) T59A probably benign Het
Gbp5 T C 3: 142,206,355 (GRCm39) L13P probably damaging Het
Gpr161 G T 1: 165,149,078 (GRCm39) L482F probably damaging Het
Il6st T A 13: 112,630,185 (GRCm39) S344T probably benign Het
Itpr3 T G 17: 27,310,503 (GRCm39) F429V probably damaging Het
Magi3 C A 3: 103,958,690 (GRCm39) G465V probably damaging Het
Naip6 T A 13: 100,435,601 (GRCm39) Y974F probably benign Het
Nek1 A G 8: 61,473,111 (GRCm39) Y169C probably damaging Het
Nos1ap A T 1: 170,416,845 (GRCm39) I30N probably damaging Het
Obox5 T C 7: 15,492,516 (GRCm39) I157T possibly damaging Het
Or10ag60 A T 2: 87,438,323 (GRCm39) D197V probably damaging Het
Pcdhb10 T A 18: 37,545,248 (GRCm39) I108N probably damaging Het
Pgf A G 12: 85,218,510 (GRCm39) L80P probably damaging Het
Rpgrip1l A G 8: 92,001,777 (GRCm39) L459P probably damaging Het
Slc9a1 A T 4: 133,139,300 (GRCm39) I173F probably damaging Het
Taf15 T C 11: 83,378,197 (GRCm39) S146P possibly damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Thumpd1 C T 7: 119,317,418 (GRCm39) R161Q probably damaging Het
Tjp2 A G 19: 24,116,174 (GRCm39) I5T possibly damaging Het
Umod A G 7: 119,076,442 (GRCm39) V108A possibly damaging Het
Usp38 A T 8: 81,740,469 (GRCm39) S199R probably damaging Het
Vmn2r73 T A 7: 85,507,086 (GRCm39) Y742F probably damaging Het
Other mutations in Kbtbd11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02160:Kbtbd11 APN 8 15,078,801 (GRCm39) missense probably damaging 1.00
IGL02538:Kbtbd11 APN 8 15,078,841 (GRCm39) missense probably damaging 1.00
IGL03039:Kbtbd11 APN 8 15,077,467 (GRCm39) missense probably benign 0.00
R0152:Kbtbd11 UTSW 8 15,077,428 (GRCm39) missense probably damaging 0.96
R0242:Kbtbd11 UTSW 8 15,077,508 (GRCm39) missense probably benign
R0242:Kbtbd11 UTSW 8 15,077,508 (GRCm39) missense probably benign
R0453:Kbtbd11 UTSW 8 15,077,499 (GRCm39) missense probably benign 0.01
R0498:Kbtbd11 UTSW 8 15,077,605 (GRCm39) missense probably benign
R0629:Kbtbd11 UTSW 8 15,077,572 (GRCm39) missense probably benign
R2031:Kbtbd11 UTSW 8 15,078,021 (GRCm39) missense possibly damaging 0.87
R2214:Kbtbd11 UTSW 8 15,079,178 (GRCm39) missense possibly damaging 0.85
R3720:Kbtbd11 UTSW 8 15,079,118 (GRCm39) nonsense probably null
R3722:Kbtbd11 UTSW 8 15,079,118 (GRCm39) nonsense probably null
R4355:Kbtbd11 UTSW 8 15,078,578 (GRCm39) missense probably damaging 1.00
R4658:Kbtbd11 UTSW 8 15,078,917 (GRCm39) missense possibly damaging 0.59
R5037:Kbtbd11 UTSW 8 15,077,886 (GRCm39) missense probably benign 0.25
R5312:Kbtbd11 UTSW 8 15,078,589 (GRCm39) missense possibly damaging 0.92
R5936:Kbtbd11 UTSW 8 15,077,534 (GRCm39) missense probably benign 0.00
R6056:Kbtbd11 UTSW 8 15,077,577 (GRCm39) missense probably benign
R6272:Kbtbd11 UTSW 8 15,079,118 (GRCm39) nonsense probably null
R6547:Kbtbd11 UTSW 8 15,077,641 (GRCm39) missense possibly damaging 0.83
R7126:Kbtbd11 UTSW 8 15,078,759 (GRCm39) missense probably damaging 1.00
R7359:Kbtbd11 UTSW 8 15,078,858 (GRCm39) missense probably damaging 1.00
R8350:Kbtbd11 UTSW 8 15,078,603 (GRCm39) missense probably damaging 1.00
R8450:Kbtbd11 UTSW 8 15,078,603 (GRCm39) missense probably damaging 1.00
Z1088:Kbtbd11 UTSW 8 15,077,839 (GRCm39) missense probably damaging 1.00
Z1177:Kbtbd11 UTSW 8 15,077,694 (GRCm39) missense probably benign 0.14
Posted On 2013-06-21