Incidental Mutation 'R1651:Kbtbd3'
ID 186389
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 039687-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R1651 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 4309833-4331732 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4330589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 321 (P321Q)
Ref Sequence ENSEMBL: ENSMUSP00000148445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049648] [ENSMUST00000212221]
AlphaFold Q8BHI4
Predicted Effect possibly damaging
Transcript: ENSMUST00000049648
AA Change: P321Q

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: P321Q

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 possibly damaging
Transcript: ENSMUST00000212221
AA Change: P321Q

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.1047 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 T A 2: 150,690,341 (GRCm39) Q118L probably benign Het
Acss1 A T 2: 150,480,357 (GRCm39) V238D possibly damaging Het
Adgrv1 T C 13: 81,635,972 (GRCm39) I3512M probably benign Het
Arhgap32 A G 9: 32,171,096 (GRCm39) Q1292R probably damaging Het
Bpnt2 A G 4: 4,792,737 (GRCm39) F123L probably damaging Het
Caskin1 C T 17: 24,721,186 (GRCm39) R509C possibly damaging Het
Cd47 T C 16: 49,714,591 (GRCm39) V147A possibly damaging Het
Cdc20b T A 13: 113,215,258 (GRCm39) Y275* probably null Het
Chd4 A G 6: 125,100,547 (GRCm39) D1745G possibly damaging Het
Crmp1 T A 5: 37,430,783 (GRCm39) S250T probably damaging Het
Crybg2 A G 4: 133,802,214 (GRCm39) K1125E probably benign Het
Crybg2 C A 4: 133,802,136 (GRCm39) P1099T possibly damaging Het
Csf1r T A 18: 61,243,473 (GRCm39) I163N possibly damaging Het
Dicer1 T C 12: 104,675,064 (GRCm39) T733A probably damaging Het
Edar A G 10: 58,441,875 (GRCm39) V339A possibly damaging Het
Efcab3 A G 11: 104,611,492 (GRCm39) R445G probably benign Het
Efcab6 A G 15: 83,755,194 (GRCm39) I1374T possibly damaging Het
Erbb2 G A 11: 98,324,283 (GRCm39) R757K probably damaging Het
Fam98a A G 17: 75,854,710 (GRCm39) V33A probably benign Het
Farp2 T C 1: 93,531,191 (GRCm39) probably null Het
Fcmr A G 1: 130,805,988 (GRCm39) T315A probably benign Het
Gdf9 G A 11: 53,324,576 (GRCm39) R115Q probably damaging Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
H2-M10.1 A G 17: 36,636,648 (GRCm39) V52A probably damaging Het
Hspg2 T A 4: 137,260,748 (GRCm39) C1582* probably null Het
Icam2 C T 11: 106,268,782 (GRCm39) V229M probably damaging Het
Itga7 C T 10: 128,784,693 (GRCm39) P735L probably benign Het
Kcnma1 T A 14: 23,364,262 (GRCm39) T997S probably damaging Het
Kifc5b T C 17: 27,144,504 (GRCm39) F541S probably damaging Het
Klhdc9 C A 1: 171,188,016 (GRCm39) V72L probably benign Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lrrtm4 A G 6: 79,999,511 (GRCm39) T308A probably benign Het
Map1b T C 13: 99,569,091 (GRCm39) E1210G unknown Het
Mocs3 A G 2: 168,073,489 (GRCm39) Y312C probably damaging Het
Mrps7 G T 11: 115,495,581 (GRCm39) E40* probably null Het
Msantd5f1 A T 4: 73,605,621 (GRCm39) N344I possibly damaging Het
Msln T C 17: 25,972,382 (GRCm39) H50R probably benign Het
Myb A G 10: 21,002,097 (GRCm39) F748S probably damaging Het
Myo10 C A 15: 25,742,455 (GRCm39) H590N probably damaging Het
Naip5 T C 13: 100,358,419 (GRCm39) E939G probably benign Het
Nbeal1 T A 1: 60,239,278 (GRCm39) V107E probably damaging Het
Nrcam A T 12: 44,623,462 (GRCm39) N1011I probably damaging Het
Or14c44 A G 7: 86,057,078 (GRCm39) probably benign Het
Or1ak2 T C 2: 36,827,335 (GRCm39) L68P probably damaging Het
Or4c118 A C 2: 88,975,346 (GRCm39) V7G probably damaging Het
Pcgf6 A T 19: 47,037,441 (GRCm39) C153S probably damaging Het
Phrf1 T C 7: 140,817,434 (GRCm39) V81A probably benign Het
Ppp4r4 A G 12: 103,550,331 (GRCm39) N36D probably benign Het
Prkch A G 12: 73,805,775 (GRCm39) T517A possibly damaging Het
Rasal1 A T 5: 120,790,910 (GRCm39) K33* probably null Het
Rp1l1 G A 14: 64,268,442 (GRCm39) E1343K probably damaging Het
Serpinb6e T C 13: 34,020,406 (GRCm39) D234G probably benign Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Smyd3 T G 1: 178,871,441 (GRCm39) I313L probably benign Het
Tdrd9 C A 12: 111,991,140 (GRCm39) D543E probably damaging Het
Tet1 A G 10: 62,715,453 (GRCm39) L114P probably damaging Het
Tmprss11c G A 5: 86,387,283 (GRCm39) P212S probably damaging Het
Tmx2 A T 2: 84,506,461 (GRCm39) M77K probably damaging Het
Traf3 T G 12: 111,228,470 (GRCm39) D560E probably damaging Het
Trappc12 C T 12: 28,741,776 (GRCm39) M711I probably benign Het
Trim2 A G 3: 84,074,957 (GRCm39) probably null Het
Vmn2r18 A G 5: 151,485,464 (GRCm39) S677P probably damaging Het
Wdr7 T A 18: 63,853,847 (GRCm39) L60* probably null Het
Wdr93 T C 7: 79,399,830 (GRCm39) F140L probably benign Het
Zfp638 A G 6: 83,931,719 (GRCm39) T802A probably benign 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
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
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'- CCTTCCTGTCCAAAGCTTGCAGTG -3'
(R):5'- CTTGGGGTTTTCATGGCTGAAACAC -3'

Sequencing Primer
(F):5'- AATGGTCCTAAAGGCTGTCC -3'
(R):5'- TTTCATGGCTGAAACACAGAAAAAC -3'
Posted On 2014-05-09