Incidental Mutation 'IGL02886:Klhl11'
ID363026
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: 0.689) question?
Stock #IGL02886
Quality Score
Status
Chromosome11
Chromosomal Location100462614-100472741 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100472221 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 170 (S170G)
Ref Sequence ENSEMBL: ENSMUSP00000054963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007131] [ENSMUST00000056665] [ENSMUST00000107389] [ENSMUST00000165111]
Predicted Effect probably benign
Transcript: ENSMUST00000007131
SMART Domains Protein: ENSMUSP00000007131
Gene: ENSMUSG00000020917

DomainStartEndE-ValueType
Pfam:ATP-grasp_2 6 207 2.4e-8 PFAM
low complexity region 441 457 N/A INTRINSIC
low complexity region 465 475 N/A INTRINSIC
Pfam:CoA_binding 484 590 3.9e-14 PFAM
Pfam:Ligase_CoA 650 775 1.2e-16 PFAM
Pfam:Citrate_synt 868 1076 4.8e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000056665
AA Change: S170G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054963
Gene: ENSMUSG00000048732
AA Change: S170G

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
Predicted Effect probably benign
Transcript: ENSMUST00000107389
SMART Domains Protein: ENSMUSP00000103012
Gene: ENSMUSG00000020917

DomainStartEndE-ValueType
Pfam:Citrate_bind 244 421 1.7e-94 PFAM
low complexity region 441 457 N/A INTRINSIC
low complexity region 465 475 N/A INTRINSIC
Pfam:CoA_binding 494 600 6.6e-15 PFAM
Pfam:Ligase_CoA 660 785 2.1e-16 PFAM
Pfam:Citrate_synt 879 1085 2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165111
SMART Domains Protein: ENSMUSP00000127632
Gene: ENSMUSG00000020917

DomainStartEndE-ValueType
Pfam:ATP-grasp_2 6 207 2.4e-8 PFAM
low complexity region 441 457 N/A INTRINSIC
low complexity region 465 475 N/A INTRINSIC
Pfam:CoA_binding 484 590 3.9e-14 PFAM
Pfam:Ligase_CoA 650 775 1.2e-16 PFAM
Pfam:Citrate_synt 868 1076 4.8e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 122,128,214 C1140S probably damaging Het
Abhd12b T C 12: 70,182,966 I238T possibly damaging Het
Adgrb3 T C 1: 25,504,910 probably null Het
Baz2b A T 2: 59,957,743 probably null Het
Brwd3 T C X: 108,750,848 Y1410C probably damaging Het
Casp7 T A 19: 56,433,343 I71N probably damaging Het
Cspg4 A T 9: 56,897,388 I1828F probably damaging Het
Cul2 T C 18: 3,426,920 probably benign Het
Fam187a A T 11: 102,886,554 T395S probably benign Het
Fcgr2b A G 1: 170,965,728 V244A possibly damaging Het
Fubp1 A G 3: 152,220,755 E333G possibly damaging Het
Ganab G T 19: 8,911,027 probably benign Het
Gm11639 A G 11: 105,095,874 D5409G possibly damaging Het
Hpdl A G 4: 116,820,755 S170P probably benign Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Lrrc56 A G 7: 141,197,177 probably benign Het
Lrrd1 T C 5: 3,851,534 V613A probably benign Het
Myo1e T C 9: 70,368,773 F757L probably benign Het
Myo5a T A 9: 75,151,887 probably benign Het
Myocd T A 11: 65,178,743 D837V probably damaging Het
Naip6 T C 13: 100,300,476 Q513R possibly damaging Het
Nol4l A G 2: 153,529,537 F76L probably benign Het
Olfr1328 T C 4: 118,934,830 E6G probably benign Het
Olfr1360 T A 13: 21,674,952 probably benign Het
Olfr1450 T A 19: 12,954,518 S310T probably benign Het
Pck1 G A 2: 173,154,856 E188K probably benign Het
Pdcd11 T C 19: 47,113,625 V1083A possibly damaging Het
Primpol G A 8: 46,593,584 Q226* probably null Het
Rbm15 A C 3: 107,326,295 V959G probably benign Het
Rorb A G 19: 18,977,579 probably null Het
Spata9 T C 13: 75,977,734 L112P probably damaging Het
Stk24 A T 14: 121,292,115 L375Q probably null Het
Svip A G 7: 52,005,761 S11P possibly damaging Het
Taf13 T C 3: 108,581,184 probably benign Het
Tex30 T C 1: 44,088,523 Y7C probably damaging Het
Tmem68 T C 4: 3,569,361 probably benign Het
Tnc T C 4: 64,000,107 E1189G probably damaging Het
Top2b T C 14: 16,365,688 S4P possibly damaging Het
Trav3-3 C A 14: 53,666,365 L47I probably benign Het
Ttn G A 2: 76,903,213 probably benign Het
Uroc1 A G 6: 90,346,829 probably benign Het
Other mutations in Klhl11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Klhl11 APN 11 100463205 missense possibly damaging 0.94
IGL02334:Klhl11 APN 11 100463836 missense probably damaging 1.00
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
Posted On2015-12-18