Incidental Mutation 'IGL00674:Kbtbd3'
ID11540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kbtbd3
Ensembl Gene ENSMUSG00000025893
Gene Namekelch repeat and BTB (POZ) domain containing 3
SynonymsBklhd3, 2200003A07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock #IGL00674
Quality Score
Status
Chromosome9
Chromosomal Location4309833-4331732 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4329949 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 108 (T108A)
Ref Sequence ENSEMBL: ENSMUSP00000148445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049648] [ENSMUST00000212221]
Predicted Effect probably benign
Transcript: ENSMUST00000049648
AA Change: T108A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: T108A

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 benign
Transcript: ENSMUST00000212221
AA Change: T108A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad2 T A 15: 58,108,386 Q365L possibly damaging Het
Cd2ap A T 17: 42,808,785 N492K probably benign Het
Fam114a1 T A 5: 64,980,004 S97T probably benign Het
Fbxw8 C T 5: 118,095,593 M324I possibly damaging Het
Gpx6 A G 13: 21,313,808 probably benign Het
Lrrd1 T C 5: 3,849,773 I26T possibly damaging Het
Mark1 C T 1: 184,912,106 G454S probably benign Het
Mrpl20 T C 4: 155,808,584 F91L probably benign Het
Nt5c3b A T 11: 100,432,909 probably benign Het
Osbpl2 T C 2: 180,150,258 Y252H possibly damaging Het
Pard3 A G 8: 127,388,678 N626D probably damaging Het
Pbrm1 C T 14: 31,118,776 P1612S probably damaging Het
Prl3d3 T C 13: 27,159,131 probably null Het
Sall4 T C 2: 168,755,780 D380G probably damaging Het
Sema3b A C 9: 107,604,041 probably null Het
Spred1 C T 2: 117,177,858 P415L probably damaging Het
Tnc T A 4: 63,965,607 D1958V probably damaging Het
Tnfsf15 A G 4: 63,734,246 probably benign Het
Usp24 T A 4: 106,372,679 probably benign Het
Other mutations in Kbtbd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00642:Kbtbd3 APN 9 4330169 missense probably benign
IGL00848:Kbtbd3 APN 9 4331184 missense probably damaging 1.00
IGL01949:Kbtbd3 APN 9 4331066 missense possibly damaging 0.95
IGL02619:Kbtbd3 APN 9 4331252 missense probably damaging 1.00
IGL02830:Kbtbd3 APN 9 4330096 missense possibly damaging 0.95
IGL02894:Kbtbd3 APN 9 4331444 missense probably benign 0.05
R0239:Kbtbd3 UTSW 9 4330144 missense possibly damaging 0.62
R0239:Kbtbd3 UTSW 9 4330144 missense possibly damaging 0.62
R0348:Kbtbd3 UTSW 9 4330519 missense possibly damaging 0.94
R0372:Kbtbd3 UTSW 9 4316950 missense possibly damaging 0.75
R0380:Kbtbd3 UTSW 9 4330545 nonsense probably null
R0644:Kbtbd3 UTSW 9 4329868 missense probably damaging 1.00
R1496:Kbtbd3 UTSW 9 4330276 missense probably benign
R1651:Kbtbd3 UTSW 9 4330589 missense possibly damaging 0.62
R1707:Kbtbd3 UTSW 9 4316985 missense probably benign 0.01
R1998:Kbtbd3 UTSW 9 4330760 missense probably benign 0.01
R2012:Kbtbd3 UTSW 9 4330919 missense probably benign
R2027:Kbtbd3 UTSW 9 4317075 splice site probably benign
R3717:Kbtbd3 UTSW 9 4330598 missense probably benign
R4463:Kbtbd3 UTSW 9 4331257 missense probably damaging 0.99
R4482:Kbtbd3 UTSW 9 4331051 missense probably damaging 1.00
R4795:Kbtbd3 UTSW 9 4331073 nonsense probably null
R5195:Kbtbd3 UTSW 9 4316905 missense possibly damaging 0.74
R5645:Kbtbd3 UTSW 9 4331426 missense possibly damaging 0.92
R5753:Kbtbd3 UTSW 9 4331404 missense possibly damaging 0.74
R5898:Kbtbd3 UTSW 9 4330476 missense probably damaging 0.97
R6463:Kbtbd3 UTSW 9 4316921 missense probably benign
R6681:Kbtbd3 UTSW 9 4330687 missense probably benign 0.00
R7284:Kbtbd3 UTSW 9 4330690 nonsense probably null
R7390:Kbtbd3 UTSW 9 4330424 missense probably benign 0.27
R7735:Kbtbd3 UTSW 9 4330846 missense possibly damaging 0.89
R7793:Kbtbd3 UTSW 9 4331221 missense probably damaging 1.00
R8005:Kbtbd3 UTSW 9 4330655 missense not run
R8050:Kbtbd3 UTSW 9 4330408 missense not run
X0024:Kbtbd3 UTSW 9 4331437 missense probably benign 0.00
Posted On2012-12-06