Incidental Mutation 'R0152:Kbtbd11'
ID 22784
Institutional Source Beutler Lab
Gene Symbol Kbtbd11
Ensembl Gene ENSMUSG00000055675
Gene Name kelch repeat and BTB (POZ) domain containing 11
Synonyms 4930465M17Rik, 2900016B01Rik
MMRRC Submission 038435-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R0152 (G1)
Quality Score 193
Status Validated (trace)
Chromosome 8
Chromosomal Location 15061025-15083333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15077428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 9 (V9A)
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: V9A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068321
Gene: ENSMUSG00000055675
AA Change: V9A

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: V9A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139292
Gene: ENSMUSG00000055675
AA Change: V9A

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
Meta Mutation Damage Score 0.0748 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 87% (40/46)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,074,688 (GRCm39) D834G probably damaging Het
Abca13 T A 11: 9,531,724 (GRCm39) H4650Q probably damaging Het
Aqr T A 2: 113,989,491 (GRCm39) T111S probably benign Het
Arfip2 G A 7: 105,286,430 (GRCm39) T124M probably damaging Het
Arhgap44 G T 11: 64,902,745 (GRCm39) A574E probably benign Het
Arhgef26 T C 3: 62,330,965 (GRCm39) S560P probably damaging Het
Car5a T A 8: 122,643,185 (GRCm39) N273I probably damaging Het
Cd4 G A 6: 124,844,709 (GRCm39) Q359* probably null Het
Cgrrf1 G A 14: 47,091,370 (GRCm39) C298Y probably damaging Het
Clip3 G A 7: 30,002,857 (GRCm39) A416T probably benign Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Eif3e G A 15: 43,115,632 (GRCm39) A378V possibly damaging Het
Ercc6 C G 14: 32,268,862 (GRCm39) probably benign Het
Eri2 A G 7: 119,389,606 (GRCm39) V104A probably damaging Het
Exph5 T A 9: 53,264,504 (GRCm39) probably null Het
Hmcn1 A T 1: 150,539,630 (GRCm39) Y2954N probably benign Het
Itga2 C T 13: 115,002,850 (GRCm39) G547R probably benign Het
Ldb2 T C 5: 44,699,141 (GRCm39) D99G possibly damaging Het
Mfsd12 G T 10: 81,193,633 (GRCm39) D68Y probably damaging Het
Mgarp T C 3: 51,296,384 (GRCm39) D228G probably benign Het
Myh14 A T 7: 44,272,605 (GRCm39) L1441Q probably damaging Het
Obscn T C 11: 58,943,402 (GRCm39) D4810G probably benign Het
Or10ak9 T A 4: 118,726,083 (GRCm39) I34N possibly damaging Het
Or14c40 A T 7: 86,313,719 (GRCm39) Y283F probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5b12 A G 19: 12,897,472 (GRCm39) V67A possibly damaging Het
Or8g30 A G 9: 39,230,757 (GRCm39) I51T probably benign Het
Pdhx A G 2: 102,858,625 (GRCm39) V393A probably benign Het
Pdpk1 C T 17: 24,325,920 (GRCm39) R92H possibly damaging Het
Pgr A T 9: 8,965,023 (GRCm39) I889F probably benign Het
Pum2 T A 12: 8,778,754 (GRCm39) I468K possibly damaging Het
Recql5 A G 11: 115,785,499 (GRCm39) S666P probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc26a4 T C 12: 31,579,497 (GRCm39) I588M probably damaging Het
Slc9a2 A G 1: 40,781,964 (GRCm39) T398A probably damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Tub A T 7: 108,620,134 (GRCm39) N93Y probably damaging Het
Usp3 T C 9: 66,447,432 (GRCm39) T181A probably damaging Het
Vars2 A G 17: 35,970,919 (GRCm39) L637P probably damaging Het
Vmn2r1 T C 3: 63,989,240 (GRCm39) S60P possibly damaging Het
Wdcp A G 12: 4,901,583 (GRCm39) S480G probably benign Het
Zbtb38 T C 9: 96,568,333 (GRCm39) Y917C probably damaging Het
Zfp68 T C 5: 138,604,875 (GRCm39) K445E probably damaging Het
Zmynd10 A G 9: 107,428,144 (GRCm39) probably null Het
Other mutations in Kbtbd11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Kbtbd11 APN 8 15,079,176 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTGGGCGAGTCCTCCTCACAAG -3'
(R):5'- TCGATGACCAGGTCGGGTTCTC -3'

Sequencing Primer
(F):5'- TCCTCACAAGAGAGGAGAGTG -3'
(R):5'- GCTGCTGACATCCCACTG -3'
Posted On 2013-04-16