Incidental Mutation 'R8215:Klhl17'
ID 636358
Institutional Source Beutler Lab
Gene Symbol Klhl17
Ensembl Gene ENSMUSG00000078484
Gene Name kelch-like 17
Synonyms actinfilin
MMRRC Submission 067657-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R8215 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 156313792-156319314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 156314510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 635 (V635A)
Ref Sequence ENSEMBL: ENSMUSP00000101194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105569] [ENSMUST00000105571]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000105569
AA Change: V635A
SMART Domains Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485
AA Change: V635A

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: ENSMUST00000105571
SMART Domains Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485

DomainStartEndE-ValueType
PH 96 192 4.6e-4 SMART
PH 227 324 8.34e-2 SMART
low complexity region 346 359 N/A INTRINSIC
low complexity region 403 414 N/A INTRINSIC
low complexity region 499 527 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 93.8%
Validation Efficiency 100% (59/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik G T 15: 81,949,301 (GRCm39) R1066L probably benign Het
Abca14 A C 7: 119,893,425 (GRCm39) I1292L probably benign Het
Adam34l T A 8: 44,079,538 (GRCm39) T229S probably benign Het
Adamtsl1 T G 4: 86,261,382 (GRCm39) F1206V probably benign Het
Agl T C 3: 116,582,293 (GRCm39) H243R probably damaging Het
Btn2a2 A C 13: 23,666,040 (GRCm39) L264R probably damaging Het
Ccdc33 A T 9: 57,939,995 (GRCm39) S749T probably benign Het
Cd55b CTTTT CTTTTT 1: 130,347,337 (GRCm39) probably null Het
Cdh8 A G 8: 99,757,498 (GRCm39) I700T possibly damaging Het
Cfap65 A G 1: 74,949,902 (GRCm39) L1201P probably damaging Het
Chsy3 C T 18: 59,308,941 (GRCm39) Q65* probably null Het
Clic5 T A 17: 44,586,228 (GRCm39) L239* probably null Het
Corin T C 5: 72,462,361 (GRCm39) D957G probably damaging Het
Cped1 A T 6: 22,132,277 (GRCm39) Y486F probably damaging Het
Csnk1g3 C T 18: 54,081,151 (GRCm39) T374M probably benign Het
D930020B18Rik T A 10: 121,503,429 (GRCm39) C201* probably null Het
Dnah2 A G 11: 69,326,193 (GRCm39) F3653L probably damaging Het
F11r GGTGTG GGTGTGTG 1: 171,290,656 (GRCm39) probably null Het
Foxj3 T G 4: 119,478,808 (GRCm39) S455R unknown Het
Gcnt3 T C 9: 69,941,455 (GRCm39) D371G probably damaging Het
Gm10837 A G 14: 122,728,193 (GRCm39) E23G unknown Het
Hivep3 T C 4: 119,980,098 (GRCm39) V1712A probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hoxa2 A G 6: 52,140,041 (GRCm39) V315A probably damaging Het
Irx5 A T 8: 93,086,241 (GRCm39) Y108F possibly damaging Het
Itsn1 T C 16: 91,608,996 (GRCm39) I248T probably damaging Het
Kcnb1 T C 2: 166,946,361 (GRCm39) K829R probably benign Het
Krr1 C T 10: 111,815,834 (GRCm39) R234* probably null Het
Lrrc7 A T 3: 157,915,387 (GRCm39) D209E probably benign Het
Mcm2 T C 6: 88,874,293 (GRCm39) E71G probably damaging Het
Mroh5 C A 15: 73,691,139 (GRCm39) K10N probably damaging Het
Myh3 A G 11: 66,992,005 (GRCm39) E1850G probably damaging Het
Nedd9 T C 13: 41,492,319 (GRCm39) I64V probably benign Het
Nisch A G 14: 30,908,658 (GRCm39) S456P possibly damaging Het
Nrcam T C 12: 44,610,896 (GRCm39) V532A probably benign Het
Or51k1 T C 7: 103,661,330 (GRCm39) D193G possibly damaging Het
Or5p51 T G 7: 107,444,124 (GRCm39) D272A probably damaging Het
Or7g32 T C 9: 19,408,796 (GRCm39) F251L probably damaging Het
Or8k17 C T 2: 86,066,862 (GRCm39) V106M probably benign Het
Plekhg1 C T 10: 3,907,521 (GRCm39) P868S Het
Ptf1a A G 2: 19,450,760 (GRCm39) Q30R possibly damaging Het
Ptgs1 G T 2: 36,141,179 (GRCm39) C542F probably damaging Het
Rere T A 4: 150,701,424 (GRCm39) M1268K possibly damaging Het
Rp1 A G 1: 4,315,318 (GRCm39) F485L unknown Het
Samd14 A T 11: 94,905,213 (GRCm39) E8D probably benign Het
Serpinh1 A G 7: 98,995,545 (GRCm39) Y346H possibly damaging Het
Shq1 A T 6: 100,648,021 (GRCm39) M1K probably null Het
Tfrc T C 16: 32,443,848 (GRCm39) S551P probably damaging Het
Tnr A C 1: 159,715,860 (GRCm39) N874T possibly damaging Het
Trak1 C A 9: 121,298,096 (GRCm39) T667N probably damaging Het
Trpv2 A C 11: 62,481,757 (GRCm39) T423P probably damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn2r24 A G 6: 123,756,077 (GRCm39) T50A probably benign Het
Xirp2 T A 2: 67,346,853 (GRCm39) D3031E probably benign Het
Zbed6 G T 1: 133,586,530 (GRCm39) A269E probably damaging Het
Zbtb4 A C 11: 69,669,598 (GRCm39) I774L probably benign Het
Zbtb47 T C 9: 121,596,344 (GRCm39) S604P probably benign Het
Zfhx3 A G 8: 109,677,349 (GRCm39) T2800A 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
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
R8314:Klhl17 UTSW 4 156,318,470 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- CGTGAGTAGACAAACAGCGC -3'
(R):5'- AACAGTACGGCAGGTCCTTG -3'

Sequencing Primer
(F):5'- GCGCACACATAAATGAACGAG -3'
(R):5'- AGCACACATGACCTGGTG -3'
Posted On 2020-07-13