Incidental Mutation 'R8213:Kbtbd3'
ID 636262
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 067655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R8213 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 4309833-4331732 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4331269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 548 (K548E)
Ref Sequence ENSEMBL: ENSMUSP00000050183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049648] [ENSMUST00000212221]
AlphaFold Q8BHI4
Predicted Effect probably damaging
Transcript: ENSMUST00000049648
AA Change: K548E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: K548E

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: K548E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (65/66)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T C 15: 60,791,605 (GRCm39) Y277C probably damaging Het
Acss1 T A 2: 150,461,630 (GRCm39) D651V possibly damaging Het
Aktip G T 8: 91,851,494 (GRCm39) P243H possibly damaging Het
Arl11 T G 14: 61,548,714 (GRCm39) S175A probably benign Het
Aup1 A G 6: 83,031,588 (GRCm39) probably benign Het
Avil A T 10: 126,844,190 (GRCm39) I250F probably damaging Het
Btnl6 A T 17: 34,727,857 (GRCm39) probably null Het
Ccdc7b C A 8: 129,904,772 (GRCm39) Q137K probably benign Het
Cdk11b G A 4: 155,724,338 (GRCm39) E319K unknown Het
Chka A C 19: 3,935,882 (GRCm39) E196A probably damaging Het
Depdc5 C T 5: 33,094,981 (GRCm39) R753C probably damaging Het
Dhx57 T A 17: 80,582,585 (GRCm39) D340V possibly damaging Het
Dicer1 A T 12: 104,668,952 (GRCm39) D1243E probably benign Het
Dnajb9 A T 12: 44,253,916 (GRCm39) L164M probably benign Het
Dock6 A G 9: 21,742,740 (GRCm39) V785A possibly damaging Het
Efcab5 T C 11: 77,006,897 (GRCm39) Y909C probably damaging Het
Erp44 A T 4: 48,208,783 (GRCm39) S226T probably benign Het
Fgd6 A T 10: 93,879,914 (GRCm39) D256V probably benign Het
Fhl5 A T 4: 25,207,113 (GRCm39) Y218* probably null Het
Filip1 C A 9: 79,725,374 (GRCm39) A1082S probably benign Het
Heatr5a G A 12: 51,938,226 (GRCm39) T1484M probably damaging Het
Herc1 G T 9: 66,358,170 (GRCm39) R2417L probably damaging Het
Hnrnpr A G 4: 136,044,486 (GRCm39) probably benign Het
Igsf5 A T 16: 96,174,188 (GRCm39) I73F probably damaging Het
Il17ra T C 6: 120,449,995 (GRCm39) V91A probably benign Het
Inpp5f A G 7: 128,281,529 (GRCm39) D510G probably damaging Het
Kdm5d T A Y: 941,515 (GRCm39) C1239S probably damaging Het
Mamdc4 G A 2: 25,456,368 (GRCm39) T709M probably benign Het
Mybbp1a T A 11: 72,335,547 (GRCm39) Y353N probably damaging Het
Nepn A T 10: 52,267,855 (GRCm39) E40D probably benign Het
Nhsl3 A T 4: 129,115,252 (GRCm39) V1070D possibly damaging Het
Npat G T 9: 53,481,870 (GRCm39) E1193* probably null Het
Nrde2 G A 12: 100,097,262 (GRCm39) S846L probably benign Het
Nup205 T C 6: 35,202,138 (GRCm39) V1290A probably benign Het
Or10a49 C A 7: 108,467,726 (GRCm39) V212L probably benign Het
Or4d10b A G 19: 12,036,456 (GRCm39) V220A probably benign Het
Or5g9 T A 2: 85,551,845 (GRCm39) L32Q probably null Het
Pde6a A T 18: 61,353,768 (GRCm39) K31M possibly damaging Het
Pms2 C T 5: 143,851,589 (GRCm39) R169C probably damaging Het
Polr2g A T 19: 8,775,621 (GRCm39) L30Q probably damaging Het
Pramel22 T A 4: 143,380,755 (GRCm39) M423L probably benign Het
Pramel30 A T 4: 144,057,030 (GRCm39) D71V probably benign Het
Prdm15 T A 16: 97,608,260 (GRCm39) H679L probably damaging Het
Prl4a1 T G 13: 28,207,369 (GRCm39) Y214* probably null Het
Prlr C T 15: 10,329,328 (GRCm39) T601M possibly damaging Het
Psen2 A C 1: 180,073,256 (GRCm39) S22A probably benign Het
Ralgapa1 C A 12: 55,769,699 (GRCm39) R764L probably damaging Het
Scgb2b11 T C 7: 31,908,833 (GRCm39) E89G probably damaging Het
Serpina10 T C 12: 103,594,536 (GRCm39) I228V probably benign Het
Serpinb1a T A 13: 33,026,982 (GRCm39) H320L probably damaging Het
Sesn2 C A 4: 132,225,364 (GRCm39) Q267H possibly damaging Het
Sgsm1 A T 5: 113,398,877 (GRCm39) W1019R probably damaging Het
Sqle A G 15: 59,193,151 (GRCm39) probably null Het
Syt14 T C 1: 192,669,137 (GRCm39) M39V probably benign Het
Tgm7 A G 2: 120,931,545 (GRCm39) V206A probably damaging Het
Thbs4 T C 13: 92,897,094 (GRCm39) probably null Het
Trpv1 T C 11: 73,145,077 (GRCm39) F721S probably damaging Het
Ttll10 A T 4: 156,120,691 (GRCm39) M433K probably benign Het
Vmn1r216 T C 13: 23,283,695 (GRCm39) I126T probably benign Het
Vmn2r108 G A 17: 20,690,350 (GRCm39) S494F probably benign Het
Vwa3b C T 1: 37,168,020 (GRCm39) A603V probably benign Het
Xirp2 T A 2: 67,307,210 (GRCm39) N19K probably damaging Het
Zfp397 T A 18: 24,093,779 (GRCm39) N421K probably damaging Het
Zscan5b C T 7: 6,236,946 (GRCm39) P232S possibly 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
R5898:Kbtbd3 UTSW 9 4,330,476 (GRCm39) missense probably damaging 0.97
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
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'- TGAACTAGTAGCAGAGTTTGGG -3'
(R):5'- AGTTGCAATTTTAGAGCTCTCATGC -3'

Sequencing Primer
(F):5'- AGCTGTCCCAGTAAACTG -3'
(R):5'- TAGAAATGATTTGAATACCATGGGTC -3'
Posted On 2020-07-13