Incidental Mutation 'IGL02810:Klhl17'
ID 360543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl17
Ensembl Gene ENSMUSG00000078484
Gene Name kelch-like 17
Synonyms actinfilin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # IGL02810
Quality Score
Status
Chromosome 4
Chromosomal Location 156313792-156319314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 156318514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 36 (E36G)
Ref Sequence ENSEMBL: ENSMUSP00000101194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105569] [ENSMUST00000179543] [ENSMUST00000179886] [ENSMUST00000218699]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000105569
AA Change: E36G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485
AA Change: E36G

DomainStartEndE-ValueType
low complexity region 20 50 N/A INTRINSIC
BTB 90 187 3.55e-30 SMART
BACK 192 294 1.08e-42 SMART
Kelch 341 387 4.01e-8 SMART
Kelch 388 434 5.41e-14 SMART
Kelch 435 481 6.97e-17 SMART
Kelch 482 528 1.55e-14 SMART
Kelch 529 575 2.02e-13 SMART
Kelch 576 622 1.34e-9 SMART
low complexity region 626 640 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179543
SMART Domains Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567

DomainStartEndE-ValueType
low complexity region 21 58 N/A INTRINSIC
low complexity region 97 114 N/A INTRINSIC
low complexity region 121 139 N/A INTRINSIC
Pfam:Noc2 331 626 1.8e-128 PFAM
low complexity region 651 675 N/A INTRINSIC
low complexity region 701 723 N/A INTRINSIC
low complexity region 738 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179886
SMART Domains Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567

DomainStartEndE-ValueType
Pfam:Noc2 172 470 1.2e-117 PFAM
low complexity region 494 518 N/A INTRINSIC
low complexity region 544 566 N/A INTRINSIC
low complexity region 581 593 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184043
Predicted Effect probably benign
Transcript: ENSMUST00000218699
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,249,401 (GRCm39) K1491E probably damaging Het
Abi3bp T C 16: 56,498,138 (GRCm39) S696P probably damaging Het
Ago1 A G 4: 126,336,886 (GRCm39) V273A probably benign Het
Atosb C A 4: 43,034,429 (GRCm39) V389F probably damaging Het
Bbs2 A G 8: 94,813,539 (GRCm39) Y213H probably benign Het
Car10 T A 11: 93,469,522 (GRCm39) Y142N probably damaging Het
Eml6 T C 11: 29,799,016 (GRCm39) K415E possibly damaging Het
Exoc3l A T 8: 106,021,980 (GRCm39) I41N probably damaging Het
Fat3 T C 9: 16,288,146 (GRCm39) D459G probably damaging Het
Gabbr1 T C 17: 37,373,654 (GRCm39) F401L probably damaging Het
Galnt10 G A 11: 57,616,412 (GRCm39) R109Q probably damaging Het
Gpr108 C T 17: 57,549,742 (GRCm39) D265N probably benign Het
Helb T C 10: 119,927,608 (GRCm39) N834S possibly damaging Het
Igkv8-30 A G 6: 70,094,342 (GRCm39) V23A probably benign Het
Iqck A T 7: 118,570,662 (GRCm39) K271N possibly damaging Het
Klrb1b A G 6: 128,795,430 (GRCm39) probably null Het
Mybl1 G A 1: 9,743,340 (GRCm39) P571S probably damaging Het
Mybl1 T C 1: 9,748,613 (GRCm39) T328A probably benign Het
Nav3 A T 10: 109,652,135 (GRCm39) D873E probably damaging Het
Nms T C 1: 38,987,725 (GRCm39) Y147H possibly damaging Het
Nrde2 A T 12: 100,110,017 (GRCm39) M338K possibly damaging Het
Oasl2 T A 5: 115,035,852 (GRCm39) F43I probably damaging Het
Oxr1 G A 15: 41,676,979 (GRCm39) V91I probably benign Het
Pcnx2 C T 8: 126,613,942 (GRCm39) C503Y probably benign Het
Polr2m A T 9: 71,390,848 (GRCm39) I14K probably benign Het
Ppara T C 15: 85,661,878 (GRCm39) S40P probably damaging Het
Shisa6 T A 11: 66,115,774 (GRCm39) T288S possibly damaging Het
Slc26a5 T C 5: 22,018,381 (GRCm39) probably benign Het
Spag1 A G 15: 36,234,693 (GRCm39) N818D probably damaging Het
Srcap T C 7: 127,120,835 (GRCm39) probably null Het
Tctn1 C T 5: 122,380,664 (GRCm39) probably null Het
Triobp A G 15: 78,886,403 (GRCm39) N507S possibly damaging Het
Tut7 A G 13: 59,929,830 (GRCm39) probably null Het
Ugt2b34 C A 5: 87,054,383 (GRCm39) V133L probably benign Het
Yju2b A G 8: 84,990,997 (GRCm39) probably benign Het
Other mutations in Klhl17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Klhl17 APN 4 156,318,147 (GRCm39) missense possibly damaging 0.66
IGL00235:Klhl17 APN 4 156,318,319 (GRCm39) missense possibly damaging 0.89
IGL01730:Klhl17 APN 4 156,316,157 (GRCm39) nonsense probably null
R0761:Klhl17 UTSW 4 156,317,204 (GRCm39) critical splice acceptor site probably null
R1299:Klhl17 UTSW 4 156,315,419 (GRCm39) missense probably damaging 1.00
R4847:Klhl17 UTSW 4 156,316,054 (GRCm39) missense probably damaging 0.96
R4888:Klhl17 UTSW 4 156,315,082 (GRCm39) missense probably benign 0.05
R4919:Klhl17 UTSW 4 156,318,344 (GRCm39) missense possibly damaging 0.60
R5121:Klhl17 UTSW 4 156,315,082 (GRCm39) missense probably benign 0.05
R8215:Klhl17 UTSW 4 156,314,510 (GRCm39) missense unknown
R8314:Klhl17 UTSW 4 156,318,470 (GRCm39) missense probably benign 0.21
Posted On 2015-12-18