Incidental Mutation 'R5898:Kbtbd3'
ID 457664
Institutional Source Beutler Lab
Gene Symbol Kbtbd3
Ensembl Gene ENSMUSG00000025893
Gene Name kelch repeat and BTB (POZ) domain containing 3
Synonyms Bklhd3, 2200003A07Rik
MMRRC Submission 044097-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R5898 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 4309833-4331732 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4330476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 283 (D283E)
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: D283E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: D283E

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: D283E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 96% (86/90)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G T 10: 100,448,762 (GRCm39) R158L possibly damaging Het
1700017N19Rik G A 10: 100,451,070 (GRCm39) M179I probably benign Het
Abhd12 T C 2: 150,681,698 (GRCm39) I231V possibly damaging Het
Adsl A G 15: 80,845,554 (GRCm39) probably null Het
Ahnak C A 19: 8,991,131 (GRCm39) N4138K possibly damaging Het
Ahnak T C 19: 8,995,575 (GRCm39) S5620P probably damaging Het
Akap13 C T 7: 75,378,894 (GRCm39) T2145I probably damaging Het
Alpk2 T A 18: 65,440,694 (GRCm39) Q700L probably damaging Het
Apobec1 T C 6: 122,557,732 (GRCm39) Y159C probably damaging Het
Atg9a T C 1: 75,162,916 (GRCm39) T395A probably damaging Het
Atp6v1f A G 6: 29,467,957 (GRCm39) I48V probably benign Het
BC051665 A C 13: 60,930,518 (GRCm39) V278G probably damaging Het
Bicd1 A T 6: 149,415,201 (GRCm39) H638L probably damaging Het
Cacna2d4 A G 6: 119,251,192 (GRCm39) Y460C probably damaging Het
Ccdc157 C A 11: 4,094,538 (GRCm39) R496L probably benign Het
Cdcp3 T G 7: 130,843,696 (GRCm39) probably null Het
Cep44 C G 8: 56,994,056 (GRCm39) V174L probably damaging Het
Clca3a1 G T 3: 144,722,522 (GRCm39) F283L possibly damaging Het
Csk T C 9: 57,537,585 (GRCm39) T110A probably benign Het
Cspg4 T A 9: 56,792,506 (GRCm39) probably null Het
Cutc A G 19: 43,748,468 (GRCm39) I124V probably benign Het
Cyp2d9 A G 15: 82,339,725 (GRCm39) T104A probably benign Het
Cyp2j9 G T 4: 96,465,951 (GRCm39) T294K probably benign Het
D630003M21Rik T A 2: 158,046,577 (GRCm39) probably null Het
Dcaf15 G T 8: 84,825,081 (GRCm39) F450L probably damaging Het
Ddhd1 A T 14: 45,840,125 (GRCm39) I723K probably damaging Het
Dnah17 C T 11: 118,005,039 (GRCm39) A782T probably benign Het
Dnah3 T C 7: 119,677,724 (GRCm39) D399G probably benign Het
Dync2h1 T C 9: 7,148,717 (GRCm39) N909S probably benign Het
Erbin A G 13: 103,975,813 (GRCm39) probably null Het
Fanci G A 7: 79,083,069 (GRCm39) V682I probably benign Het
Fap A T 2: 62,403,847 (GRCm39) F9L probably benign Het
Fat3 T C 9: 15,849,757 (GRCm39) I3882V probably benign Het
Fkbp15 A T 4: 62,244,294 (GRCm39) probably null Het
Fsd2 T C 7: 81,186,975 (GRCm39) Y601C probably damaging Het
Gm5900 T C 7: 104,599,468 (GRCm39) noncoding transcript Het
Gramd4 G T 15: 85,984,985 (GRCm39) G82V probably damaging Het
Hc C T 2: 34,887,449 (GRCm39) V1352I probably benign Het
Hsph1 A T 5: 149,548,623 (GRCm39) N466K probably damaging Het
Ice2 T A 9: 69,315,544 (GRCm39) D133E probably benign Het
Ifi213 T C 1: 173,396,545 (GRCm39) M510V probably benign Het
Itpkb T G 1: 180,248,880 (GRCm39) L861R probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Masp1 T A 16: 23,310,677 (GRCm39) I252F probably damaging Het
Megf11 G T 9: 64,593,246 (GRCm39) C586F probably damaging Het
Myh2 C A 11: 67,083,545 (GRCm39) A1476E possibly damaging Het
Myo18b A T 5: 112,950,196 (GRCm39) probably null Het
Naip6 A T 13: 100,435,829 (GRCm39) V898E possibly damaging Het
Nav1 T C 1: 135,512,884 (GRCm39) M59V probably benign Het
Nlrp3 A T 11: 59,437,678 (GRCm39) Y119F probably benign Het
Oxa1l T A 14: 54,600,758 (GRCm39) I77N possibly damaging Het
Pcdhb8 T A 18: 37,490,537 (GRCm39) D738E possibly damaging Het
Pdia5 A T 16: 35,243,335 (GRCm39) W269R probably damaging Het
Peak1 T A 9: 56,114,622 (GRCm39) T1440S probably benign Het
Piezo1 A G 8: 123,214,682 (GRCm39) V1547A probably benign Het
Pkp1 T C 1: 135,810,259 (GRCm39) Y437C probably damaging Het
Pla2r1 T C 2: 60,253,104 (GRCm39) D1329G probably damaging Het
Ppip5k2 T C 1: 97,671,887 (GRCm39) probably benign Het
Prrg4 C T 2: 104,675,378 (GRCm39) S75N probably benign Het
Psmb9 T A 17: 34,401,266 (GRCm39) I198F probably damaging Het
Rcbtb2 T A 14: 73,399,405 (GRCm39) L23* probably null Het
Sbno1 A T 5: 124,524,854 (GRCm39) probably benign Het
Scn3a T C 2: 65,345,039 (GRCm39) E483G probably damaging Het
Sdccag8 T A 1: 176,652,388 (GRCm39) D46E probably benign Het
Selenov A G 7: 27,987,579 (GRCm39) F293L probably damaging Het
Septin2 A C 1: 93,407,023 (GRCm39) D20A probably benign Het
Shc1 T A 3: 89,334,274 (GRCm39) Y313* probably null Het
Siglec1 T A 2: 130,915,553 (GRCm39) Y1346F probably damaging Het
Slc22a5 T A 11: 53,764,559 (GRCm39) I296F probably damaging Het
Slc9c1 A G 16: 45,365,123 (GRCm39) N152S probably damaging Het
Smoc1 C T 12: 81,151,531 (GRCm39) R83* probably null Het
Ssx2ip A G 3: 146,133,586 (GRCm39) D227G possibly damaging Het
Tbrg4 T C 11: 6,567,372 (GRCm39) D576G probably damaging Het
Tbx20 T A 9: 24,670,155 (GRCm39) Y226F probably damaging Het
Trav10d G T 14: 53,048,929 (GRCm39) A107S probably damaging Het
Trim60 A T 8: 65,453,016 (GRCm39) L411* probably null Het
Ttbk2 A T 2: 120,575,521 (GRCm39) V1083D probably benign Het
Unc93a T A 17: 13,344,464 (GRCm39) Q26L probably damaging Het
Usp14 T A 18: 10,022,819 (GRCm39) N65I possibly damaging Het
Vip A T 10: 5,593,988 (GRCm39) S114C probably damaging Het
Vmn1r237 A T 17: 21,534,813 (GRCm39) I179F probably damaging Het
Wdr47 T A 3: 108,545,201 (GRCm39) probably null Het
Zfp975 A T 7: 42,311,963 (GRCm39) C217S probably damaging 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
IGL02619:Kbtbd3 APN 9 4,331,252 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TAAAGGCTGTCCTCACATGG -3'
(R):5'- CCTTTGCAACCACCTGTCAAG -3'

Sequencing Primer
(F):5'- GGCTGTCCTCACATGGATTAAGTAC -3'
(R):5'- GCAACCACCTGTCAAGAATATTTTC -3'
Posted On 2017-02-15