Incidental Mutation 'R7638:Kbtbd13'
ID 590075
Institutional Source Beutler Lab
Gene Symbol Kbtbd13
Ensembl Gene ENSMUSG00000054978
Gene Name kelch repeat and BTB (POZ) domain containing 13
Synonyms 5430433E21Rik
MMRRC Submission 045696-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R7638 (G1)
Quality Score 98.0078
Status Validated
Chromosome 9
Chromosomal Location 65295966-65298934 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 65298605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 110 (C110*)
Ref Sequence ENSEMBL: ENSMUSP00000136872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068307]
AlphaFold Q8C828
Predicted Effect probably null
Transcript: ENSMUST00000068307
AA Change: C110*
SMART Domains Protein: ENSMUSP00000136872
Gene: ENSMUSG00000054978
AA Change: C110*

Blast:BTB 7 105 9e-57 BLAST
Kelch 210 258 4.33e-4 SMART
Kelch 259 305 2.39e-6 SMART
Blast:Kelch 307 351 5e-6 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo T G 2: 26,733,855 (GRCm39) T115P probably damaging Het
Aggf1 G A 13: 95,492,921 (GRCm39) R563* probably null Het
Amdhd1 A T 10: 93,370,360 (GRCm39) Y159* probably null Het
Camp T C 9: 109,677,461 (GRCm39) E124G Het
Casq2 A G 3: 101,994,016 (GRCm39) E21G possibly damaging Het
Cbln1 A T 8: 88,198,357 (GRCm39) F116Y probably damaging Het
Cklf A T 8: 104,989,996 (GRCm39) K143* probably null Het
Clca3a1 A G 3: 144,457,723 (GRCm39) I387T probably damaging Het
Cndp1 T A 18: 84,654,174 (GRCm39) D130V probably benign Het
Cyp4a12a T A 4: 115,184,670 (GRCm39) M317K possibly damaging Het
Dmxl2 A T 9: 54,365,078 (GRCm39) I138K unknown Het
Eapp A G 12: 54,720,508 (GRCm39) S236P probably benign Het
Efcab3 T A 11: 104,927,625 (GRCm39) M4798K probably benign Het
Efnb3 T C 11: 69,448,046 (GRCm39) H132R possibly damaging Het
Fam243 A G 16: 92,117,805 (GRCm39) V161A probably damaging Het
Fbn2 A T 18: 58,238,208 (GRCm39) N596K probably damaging Het
Fzd9 A G 5: 135,279,484 (GRCm39) W134R probably damaging Het
Gga2 A G 7: 121,603,157 (GRCm39) S180P probably damaging Het
Golga3 A G 5: 110,353,694 (GRCm39) T911A probably benign Het
Gstm1 C T 3: 107,921,866 (GRCm39) probably null Het
Heg1 A G 16: 33,547,867 (GRCm39) T909A probably damaging Het
Herc2 T C 7: 55,807,186 (GRCm39) S2455P probably benign Het
Herc2 C T 7: 55,870,273 (GRCm39) R4349W probably damaging Het
Hivep2 T G 10: 14,019,595 (GRCm39) M2122R possibly damaging Het
Itga10 T A 3: 96,564,707 (GRCm39) probably null Het
Krt78 T C 15: 101,859,318 (GRCm39) E293G probably damaging Het
Lgals3bp C T 11: 118,288,995 (GRCm39) V110M possibly damaging Het
Lrp2 A G 2: 69,307,352 (GRCm39) probably null Het
Lrrc14 A G 15: 76,598,173 (GRCm39) D301G probably benign Het
Lrrc71 C A 3: 87,649,113 (GRCm39) G352W probably damaging Het
Map3k9 A G 12: 81,771,506 (GRCm39) V694A probably benign Het
Mboat2 T C 12: 24,989,325 (GRCm39) S162P probably damaging Het
Megf11 C A 9: 64,586,535 (GRCm39) N422K probably damaging Het
Miga1 C T 3: 151,982,324 (GRCm39) S584N probably benign Het
Mindy2 A G 9: 70,524,141 (GRCm39) Y403H probably damaging Het
Mmd C T 11: 90,167,583 (GRCm39) A204V possibly damaging Het
Mta3 A T 17: 84,107,572 (GRCm39) Y262F probably benign Het
Ncoa7 G A 10: 30,598,794 (GRCm39) S43F probably benign Het
Nhsl3 T C 4: 129,115,734 (GRCm39) T1022A probably benign Het
Nphp4 T C 4: 152,638,991 (GRCm39) V874A probably benign Het
Nsd1 A G 13: 55,460,141 (GRCm39) T2226A probably benign Het
Nt5dc1 T C 10: 34,190,792 (GRCm39) H302R probably benign Het
Odc1 A G 12: 17,600,003 (GRCm39) Y389C probably damaging Het
Or52p2 A G 7: 102,237,125 (GRCm39) I275T probably damaging Het
Or5k8 G A 16: 58,644,958 (GRCm39) T38I probably damaging Het
Or8g37 T G 9: 39,731,189 (GRCm39) F85V probably damaging Het
Pcare T C 17: 72,057,880 (GRCm39) D599G probably damaging Het
Pcdhb10 A C 18: 37,545,365 (GRCm39) Q147P probably benign Het
Pdcl2 A C 5: 76,465,675 (GRCm39) C182G probably damaging Het
Pigv T C 4: 133,392,762 (GRCm39) D136G possibly damaging Het
Polr1h A C 17: 37,268,722 (GRCm39) probably null Het
Pramel5 T C 4: 143,998,010 (GRCm39) E411G possibly damaging Het
Prkce T C 17: 86,476,028 (GRCm39) V3A probably benign Het
Pth1r T C 9: 110,551,461 (GRCm39) N546S probably benign Het
Qrich2 C T 11: 116,346,148 (GRCm39) V1559I probably benign Het
Rbm20 A C 19: 53,802,764 (GRCm39) D424A possibly damaging Het
Rbm26 C T 14: 105,388,284 (GRCm39) D393N probably damaging Het
Sf3b3 G A 8: 111,547,445 (GRCm39) R728C probably damaging Het
Spata31e1 G T 13: 49,940,451 (GRCm39) Q420K probably benign Het
Srcap A G 7: 127,137,920 (GRCm39) N1090S probably benign Het
Syt4 A T 18: 31,576,875 (GRCm39) S160T probably benign Het
Tcstv6 A T 13: 120,304,224 (GRCm39) probably null Het
Tfap2e C T 4: 126,615,727 (GRCm39) V236M probably damaging Het
Thsd4 G A 9: 60,301,755 (GRCm39) T180M probably damaging Het
Tlr4 T A 4: 66,758,443 (GRCm39) M412K probably damaging Het
Tmem67 T A 4: 12,079,883 (GRCm39) H136L probably benign Het
Tnpo2 T A 8: 85,771,044 (GRCm39) I110N probably benign Het
Trav13d-3 A G 14: 53,270,870 (GRCm39) M111V probably benign Het
Tubb3 A T 8: 124,147,900 (GRCm39) S278C probably benign Het
Ugcg T A 4: 59,220,299 (GRCm39) F364Y probably benign Het
Usp17lc T C 7: 103,067,706 (GRCm39) S334P probably damaging Het
Vps13c A G 9: 67,852,791 (GRCm39) D2357G probably damaging Het
Zfp157 T C 5: 138,454,172 (GRCm39) Y125H probably benign Het
Zfp747 A T 7: 126,973,819 (GRCm39) M117K probably benign Het
Zscan4c A T 7: 10,743,658 (GRCm39) N419I possibly damaging Het
Other mutations in Kbtbd13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1594:Kbtbd13 UTSW 9 65,298,901 (GRCm39) missense probably benign 0.00
R4774:Kbtbd13 UTSW 9 65,298,025 (GRCm39) missense probably benign 0.18
R6392:Kbtbd13 UTSW 9 65,297,619 (GRCm39) missense possibly damaging 0.94
R7556:Kbtbd13 UTSW 9 65,298,757 (GRCm39) missense probably benign 0.00
R7874:Kbtbd13 UTSW 9 65,297,584 (GRCm39) missense probably benign 0.04
R9260:Kbtbd13 UTSW 9 65,298,852 (GRCm39) missense possibly damaging 0.58
X0061:Kbtbd13 UTSW 9 65,297,970 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-24