Incidental Mutation 'IGL02894:Kbtbd3'
ID363350
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: 0.161) question?
Stock #IGL02894
Quality Score
Status
Chromosome9
Chromosomal Location4309833-4331732 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 4331444 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 606 (H606L)
Ref Sequence ENSEMBL: ENSMUSP00000148445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049648] [ENSMUST00000212221]
Predicted Effect probably benign
Transcript: ENSMUST00000049648
AA Change: H606L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: H606L

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: H606L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130204L05Rik A T 3: 91,088,393 F67L probably benign Het
A630023A22Rik T A 14: 34,054,860 probably benign Het
AF529169 T G 9: 89,603,102 I81L probably damaging Het
Aurka T A 2: 172,366,948 probably null Het
Cacna2d3 C T 14: 29,064,319 probably null Het
Cdh12 A G 15: 21,586,294 Y733C probably damaging Het
Cdon A T 9: 35,455,426 E199D probably benign Het
Celsr2 A T 3: 108,395,210 L558Q probably damaging Het
Clcnkb C A 4: 141,407,819 R536L probably benign Het
Cyp3a11 G A 5: 145,869,026 Q151* probably null Het
Dnah7a A T 1: 53,577,328 V1158E probably benign Het
Dnah8 G T 17: 30,721,110 E1677* probably null Het
Dock3 T C 9: 106,930,099 N1343S probably benign Het
Dock6 T A 9: 21,811,815 E1603D probably damaging Het
Fam91a1 C T 15: 58,443,231 T589M probably benign Het
Fat2 T A 11: 55,256,653 N3921I probably damaging Het
Gm10188 A G 1: 132,229,299 probably benign Het
Grid2ip A G 5: 143,391,108 E976G probably benign Het
Hapln3 G T 7: 79,121,773 Q123K probably benign Het
Hnrnpul1 G A 7: 25,750,904 P128S possibly damaging Het
Hsd3b1 T A 3: 98,852,929 I249F possibly damaging Het
Krt82 T C 15: 101,542,720 Y418C probably damaging Het
Mcm3ap C A 10: 76,477,767 A565E probably benign Het
Naip2 C T 13: 100,183,789 V240I probably benign Het
Naip2 A G 13: 100,160,997 S844P probably damaging Het
Notch2 T A 3: 98,102,432 C558* probably null Het
Npdc1 T A 2: 25,407,995 H185Q probably benign Het
Olfr1164 T C 2: 88,093,763 I58V possibly damaging Het
Olfr1183 T G 2: 88,461,726 Y148D probably damaging Het
Olfr447 A T 6: 42,911,517 probably benign Het
Osbpl3 A T 6: 50,346,332 I257N possibly damaging Het
Pkd1l2 T A 8: 117,013,891 T2156S probably damaging Het
Ppp1r13b A G 12: 111,831,454 probably benign Het
Ppp3ca C A 3: 136,797,812 H49N probably damaging Het
Prrc2c A T 1: 162,678,057 L1100I probably damaging Het
Ptpn21 A C 12: 98,689,632 probably benign Het
Ptpn7 A T 1: 135,143,168 M332L probably damaging Het
Ptprq T A 10: 107,667,424 Q791L probably benign Het
Ptprz1 G A 6: 23,035,149 R1966H probably damaging Het
Ralgapa1 T A 12: 55,717,069 Q1404L possibly damaging Het
Reln C A 5: 21,885,548 M3437I possibly damaging Het
Slc13a1 T C 6: 24,137,042 probably benign Het
Slc4a11 T C 2: 130,687,155 probably null Het
Slc9a2 A G 1: 40,763,602 E604G probably benign Het
Sod3 T G 5: 52,368,006 S16A possibly damaging Het
Taok3 A G 5: 117,263,613 I650V probably benign Het
Uggt2 T C 14: 119,081,799 I270M probably damaging Het
Ugt3a2 T A 15: 9,367,401 I410N probably damaging Het
Ush2a G A 1: 188,451,846 S1449N probably damaging Het
Usp29 A T 7: 6,961,634 M159L probably benign Het
Vmn1r122 A T 7: 21,133,724 F135L probably benign Het
Wdr11 T C 7: 129,631,166 probably benign Het
Zc3h14 T A 12: 98,758,943 probably null Het
Zfp955a A T 17: 33,242,452 C235* probably null Het
Other mutations in Kbtbd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00642:Kbtbd3 APN 9 4330169 missense probably benign
IGL00674:Kbtbd3 APN 9 4329949 missense probably benign 0.05
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
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
X0024:Kbtbd3 UTSW 9 4331437 missense probably benign 0.00
Posted On2015-12-18