Incidental Mutation 'IGL00235:Klhl17'
ID2425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl17
Ensembl Gene ENSMUSG00000078484
Gene Namekelch-like 17
Synonymsactinfilin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL00235
Quality Score
Status
Chromosome4
Chromosomal Location156229044-156234857 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 156233862 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 101 (I101T)
Ref Sequence ENSEMBL: ENSMUSP00000101194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105569] [ENSMUST00000179543] [ENSMUST00000179886] [ENSMUST00000218699]
Predicted Effect possibly damaging
Transcript: ENSMUST00000105569
AA Change: I101T

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485
AA Change: I101T

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 G A 16: 35,253,213 E454K possibly damaging Het
Agl T C 3: 116,771,483 H1039R probably benign Het
Akap3 T C 6: 126,865,731 F438L probably benign Het
Casp1 A T 9: 5,299,872 probably benign Het
Cnih2 G T 19: 5,098,273 probably benign Het
Dchs1 G A 7: 105,758,743 R1961C probably damaging Het
Defb21 G A 2: 152,574,792 V63I probably benign Het
Elovl6 T A 3: 129,628,376 N105K probably benign Het
Fam83e A T 7: 45,727,069 E402V probably benign Het
Fat4 T A 3: 38,982,249 I3350N probably damaging Het
Gmpr2 C A 14: 55,675,714 F149L probably damaging Het
Gucy1b2 C A 14: 62,406,245 V636F probably damaging Het
Hapln1 A C 13: 89,608,142 Y355S probably benign Het
Hoxb13 G T 11: 96,194,642 C67F possibly damaging Het
Hspa12b T A 2: 131,134,120 I14N probably damaging Het
Ighe C A 12: 113,271,515 V342L unknown Het
Ighv1-49 A T 12: 115,055,456 S21T possibly damaging Het
Lrrd1 T G 5: 3,850,573 L293V possibly damaging Het
Lyrm4 T A 13: 36,092,882 K44M probably damaging Het
Med15 G T 16: 17,680,726 P101T probably damaging Het
Mgat4c A T 10: 102,388,720 H265L probably damaging Het
Mme T A 3: 63,340,044 I250N possibly damaging Het
Mxra8 C A 4: 155,842,563 T318N probably benign Het
Nlrp9b G A 7: 20,023,278 V147I probably benign Het
Npepl1 G T 2: 174,120,548 V336L probably damaging Het
Olfr382 G A 11: 73,516,410 S263L possibly damaging Het
Pank2 T C 2: 131,274,169 I169T possibly damaging Het
Pkhd1l1 A T 15: 44,556,019 H2960L probably damaging Het
Pnpla8 A G 12: 44,283,069 R135G probably benign Het
Prdm8 T G 5: 98,183,343 V18G probably damaging Het
Rhox7b G T X: 37,889,662 P231T probably damaging Het
Rnf121 A T 7: 102,065,115 probably benign Het
Skap1 T C 11: 96,489,910 F45S probably damaging Het
Slc4a5 T A 6: 83,285,899 L791Q probably damaging Het
Ssh1 T C 5: 113,942,576 D931G probably damaging Het
Tmem8 T C 17: 26,117,519 S204P probably damaging Het
Txndc16 T C 14: 45,162,350 Y382C probably damaging Het
Uhrf2 T C 19: 30,073,946 F307L probably benign Het
Zfhx2 C A 14: 55,063,257 A2346S probably benign Het
Other mutations in Klhl17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Klhl17 APN 4 156233690 missense possibly damaging 0.66
IGL01730:Klhl17 APN 4 156231700 nonsense probably null
IGL02810:Klhl17 APN 4 156234057 missense possibly damaging 0.72
R0761:Klhl17 UTSW 4 156232747 critical splice acceptor site probably null
R1299:Klhl17 UTSW 4 156230962 missense probably damaging 1.00
R4847:Klhl17 UTSW 4 156231597 missense probably damaging 0.96
R4888:Klhl17 UTSW 4 156230625 missense probably benign 0.05
R4919:Klhl17 UTSW 4 156233887 missense possibly damaging 0.60
R5121:Klhl17 UTSW 4 156230625 missense probably benign 0.05
R8215:Klhl17 UTSW 4 156230053 missense unknown
R8314:Klhl17 UTSW 4 156234013 missense probably benign 0.21
Posted On2011-12-09