Incidental Mutation 'IGL00092:Klhl17'
ID 1677
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 # IGL00092
Quality Score
Status
Chromosome 4
Chromosomal Location 156313792-156319314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 156318147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 129 (T129A)
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: T129A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485
AA Change: T129A

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,892,430 (GRCm39) D443G probably benign Het
Atg16l1 T C 1: 87,693,119 (GRCm39) I28T possibly damaging Het
Bpi T A 2: 158,116,716 (GRCm39) V371E probably damaging Het
Cd109 T G 9: 78,524,251 (GRCm39) V55G probably damaging Het
Cd300c2 T C 11: 114,892,375 (GRCm39) probably benign Het
Cic C T 7: 24,991,549 (GRCm39) R1280C probably damaging Het
Cngb1 G A 8: 95,968,812 (GRCm39) probably benign Het
Cntn4 G T 6: 106,483,186 (GRCm39) C247F probably damaging Het
Disp3 C T 4: 148,325,991 (GRCm39) V1256I probably benign Het
Farsb A T 1: 78,439,630 (GRCm39) S338T probably benign Het
Fcnb T C 2: 27,966,813 (GRCm39) N240S probably benign Het
Flg2 A G 3: 93,127,162 (GRCm39) S5G possibly damaging Het
Git1 T C 11: 77,396,783 (GRCm39) L635P probably benign Het
Gm21985 T G 2: 112,181,679 (GRCm39) W685G probably damaging Het
Gpt2 T C 8: 86,238,953 (GRCm39) V262A probably benign Het
Hecw2 A G 1: 53,869,896 (GRCm39) V1444A probably damaging Het
Herc1 T C 9: 66,391,248 (GRCm39) V4017A probably benign Het
Krt84 T G 15: 101,437,170 (GRCm39) D331A probably damaging Het
Lrrc9 C T 12: 72,533,017 (GRCm39) T963M possibly damaging Het
Mtcl1 C T 17: 66,651,314 (GRCm39) V935I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myocd T C 11: 65,071,770 (GRCm39) probably null Het
Nid1 A G 13: 13,650,977 (GRCm39) N505D probably damaging Het
Ninj1 A T 13: 49,347,210 (GRCm39) probably null Het
Or14a260 C T 7: 85,985,269 (GRCm39) V112I probably benign Het
Or1x6 C A 11: 50,939,227 (GRCm39) Q98K probably benign Het
Or4d10c A T 19: 12,065,357 (GRCm39) D266E probably benign Het
Plscr2 T A 9: 92,172,685 (GRCm39) probably benign Het
Ppfia2 A G 10: 106,655,353 (GRCm39) T307A probably benign Het
Sart3 T C 5: 113,884,730 (GRCm39) R625G probably benign Het
Sohlh2 T A 3: 55,115,236 (GRCm39) L407H probably damaging Het
Sorcs1 A G 19: 50,178,492 (GRCm39) S877P probably damaging Het
Stat1 T C 1: 52,161,754 (GRCm39) M1T probably null Het
Szt2 C T 4: 118,241,447 (GRCm39) probably benign Het
Tars3 G T 7: 65,302,007 (GRCm39) probably null Het
Terb2 T A 2: 122,028,867 (GRCm39) S141R probably benign Het
Tgfbrap1 T C 1: 43,099,283 (GRCm39) Y177C probably damaging Het
Trappc9 A T 15: 72,897,875 (GRCm39) I169N possibly damaging Het
Trim47 A G 11: 115,997,020 (GRCm39) L578P probably damaging Het
Usp34 G A 11: 23,386,020 (GRCm39) R2149H probably damaging Het
Vmn2r90 T C 17: 17,953,758 (GRCm39) S641P probably benign Het
Vwa5a T A 9: 38,649,110 (GRCm39) probably null Het
Zzef1 T A 11: 72,765,952 (GRCm39) I1493N probably benign Het
Other mutations in Klhl17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Klhl17 APN 4 156,318,319 (GRCm39) missense possibly damaging 0.89
IGL01730:Klhl17 APN 4 156,316,157 (GRCm39) nonsense probably null
IGL02810:Klhl17 APN 4 156,318,514 (GRCm39) missense possibly damaging 0.72
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 2011-07-12