Incidental Mutation 'IGL02334:Klhl11'
ID288792
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl11
Ensembl Gene ENSMUSG00000048732
Gene Namekelch-like 11
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.708) question?
Stock #IGL02334
Quality Score
Status
Chromosome11
Chromosomal Location100462614-100472741 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 100463836 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 386 (D386E)
Ref Sequence ENSEMBL: ENSMUSP00000054963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056665]
Predicted Effect probably damaging
Transcript: ENSMUST00000056665
AA Change: D386E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000054963
Gene: ENSMUSG00000048732
AA Change: D386E

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
BTB 95 201 2.69e-21 SMART
BACK 206 308 9.54e-26 SMART
Kelch 361 408 4.1e0 SMART
Kelch 409 454 2.61e-1 SMART
Kelch 455 502 2.17e-1 SMART
Kelch 611 662 1.39e-2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd46 A G 15: 36,485,933 V58A possibly damaging Het
Dhx16 A G 17: 35,884,057 E492G probably damaging Het
Dock1 T C 7: 135,145,565 M1535T probably damaging Het
Evpl G T 11: 116,231,024 S344* probably null Het
F2 A T 2: 91,633,094 H148Q probably benign Het
Fam83e A T 7: 45,723,921 H237L probably benign Het
Fscn3 A T 6: 28,428,154 probably null Het
Gpr162 C A 6: 124,861,160 G176C probably damaging Het
Icam5 A G 9: 21,035,209 D376G possibly damaging Het
Ift172 T C 5: 31,283,058 K295R probably benign Het
Irf3 A G 7: 44,998,710 probably benign Het
Itga2 A T 13: 114,865,309 probably null Het
Myh4 G T 11: 67,245,547 G417V probably damaging Het
Nlrp3 A G 11: 59,565,083 T902A probably benign Het
Olfr1012 A T 2: 85,760,159 Y72* probably null Het
Olfr1245 A C 2: 89,575,324 M134R possibly damaging Het
Olfr1390 A G 11: 49,341,191 I220V probably benign Het
Phf10 T C 17: 14,954,099 Y239C probably damaging Het
Pla2g4e A G 2: 120,187,236 F203S probably benign Het
Pramel1 T C 4: 143,397,526 F257S probably damaging Het
Prodh2 A G 7: 30,506,378 H213R probably damaging Het
Rgs7 C T 1: 175,189,222 D61N probably damaging Het
Rhobtb1 T A 10: 69,285,678 probably benign Het
Sct C A 7: 141,278,617 probably null Het
Slc17a9 G A 2: 180,740,743 probably null Het
Spire1 T C 18: 67,506,655 T263A probably benign Het
Trpm1 A T 7: 64,245,942 probably null Het
Trpm7 G T 2: 126,807,362 N1469K probably benign Het
Zfp750 G T 11: 121,512,011 T637K probably benign Het
Zswim5 T C 4: 116,986,644 C960R probably damaging Het
Zwint T A 10: 72,654,983 probably null Het
Other mutations in Klhl11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Klhl11 APN 11 100463205 missense possibly damaging 0.94
IGL02886:Klhl11 APN 11 100472221 missense possibly damaging 0.92
R0372:Klhl11 UTSW 11 100463522 missense probably damaging 0.97
R0583:Klhl11 UTSW 11 100464324 missense possibly damaging 0.57
R0608:Klhl11 UTSW 11 100472242 missense probably damaging 1.00
R0609:Klhl11 UTSW 11 100463714 missense probably damaging 1.00
R1417:Klhl11 UTSW 11 100472289 missense probably benign 0.00
R1629:Klhl11 UTSW 11 100464186 missense probably benign 0.00
R1643:Klhl11 UTSW 11 100463015 missense probably benign 0.09
R1985:Klhl11 UTSW 11 100463244 missense probably benign 0.00
R3844:Klhl11 UTSW 11 100472307 missense possibly damaging 0.84
R4746:Klhl11 UTSW 11 100464350 missense probably benign 0.00
R5053:Klhl11 UTSW 11 100472200 missense probably damaging 1.00
R5426:Klhl11 UTSW 11 100464116 missense probably damaging 1.00
R5731:Klhl11 UTSW 11 100463763 missense probably damaging 1.00
R5755:Klhl11 UTSW 11 100464351 missense probably benign 0.00
R6874:Klhl11 UTSW 11 100472205 missense probably benign 0.00
R7295:Klhl11 UTSW 11 100472242 missense probably damaging 1.00
R7426:Klhl11 UTSW 11 100464352 missense probably benign 0.17
R7554:Klhl11 UTSW 11 100463948 missense probably benign
Z1177:Klhl11 UTSW 11 100463966 missense probably benign 0.31
Posted On2015-04-16