Incidental Mutation 'R4847:Klhl17'
ID 373295
Institutional Source Beutler Lab
Gene Symbol Klhl17
Ensembl Gene ENSMUSG00000078484
Gene Name kelch-like 17
Synonyms actinfilin
MMRRC Submission 042460-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R4847 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 156313792-156319314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 156316054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 433 (H433Q)
Ref Sequence ENSEMBL: ENSMUSP00000101194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105569] [ENSMUST00000105571] [ENSMUST00000179543] [ENSMUST00000179886] [ENSMUST00000217885] [ENSMUST00000218699]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000105569
AA Change: H433Q

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485
AA Change: H433Q

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
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: ENSMUST00000217885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219227
Predicted Effect probably benign
Transcript: ENSMUST00000218699
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik C T 11: 80,264,940 (GRCm39) V171M probably damaging Het
Abhd3 A G 18: 10,647,786 (GRCm39) S328P possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aldh1b1 G T 4: 45,802,625 (GRCm39) K54N possibly damaging Het
Amacr C T 15: 10,994,958 (GRCm39) Q257* probably null Het
Ankrd12 A T 17: 66,331,087 (GRCm39) D309E probably benign Het
Anks6 T C 4: 47,033,266 (GRCm39) T600A probably benign Het
Ap3b1 A G 13: 94,608,287 (GRCm39) E586G probably benign Het
Atad2b A G 12: 4,994,901 (GRCm39) probably null Het
Cant1 G A 11: 118,300,936 (GRCm39) Q240* probably null Het
Cep152 T C 2: 125,460,394 (GRCm39) Y186C possibly damaging Het
Cep76 C A 18: 67,752,639 (GRCm39) R603I probably benign Het
Chad T C 11: 94,459,153 (GRCm39) S352P probably benign Het
Ckap2 T C 8: 22,665,084 (GRCm39) E460G probably damaging Het
Col22a1 T C 15: 71,671,348 (GRCm39) Y1004C unknown Het
Col9a3 G A 2: 180,257,318 (GRCm39) G480S probably damaging Het
Cpsf2 A G 12: 101,963,561 (GRCm39) D430G probably benign Het
Cramp1 T C 17: 25,204,063 (GRCm39) D305G probably damaging Het
Ctnnd1 C A 2: 84,452,396 (GRCm39) E76* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2c39 A T 19: 39,549,340 (GRCm39) N286I probably damaging Het
Ddx11 A G 17: 66,437,796 (GRCm39) E174G probably damaging Het
Ddx19a T C 8: 111,703,677 (GRCm39) E369G probably damaging Het
Dnai7 T A 6: 145,120,911 (GRCm39) H636L probably damaging Het
Epha1 T A 6: 42,338,848 (GRCm39) D687V possibly damaging Het
Fgr T C 4: 132,721,959 (GRCm39) W132R probably damaging Het
Fras1 A T 5: 96,692,851 (GRCm39) D170V possibly damaging Het
Gas2l1 A G 11: 5,014,173 (GRCm39) S96P probably damaging Het
Gfy G A 7: 44,827,020 (GRCm39) P359S probably damaging Het
Hexim2 A G 11: 103,029,767 (GRCm39) N273S probably benign Het
Hr A T 14: 70,793,916 (GRCm39) T59S probably benign Het
Ift70a2 A T 2: 75,808,058 (GRCm39) N151K probably benign Het
Impdh2 A G 9: 108,441,870 (GRCm39) Y166C probably damaging Het
Impdh2 T A 9: 108,442,714 (GRCm39) F514Y probably benign Het
Iqgap2 A G 13: 95,810,251 (GRCm39) F731S probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kntc1 A C 5: 123,940,337 (GRCm39) N1645T probably benign Het
Mcm8 A G 2: 132,661,923 (GRCm39) I114V probably benign Het
Mink1 T A 11: 70,492,854 (GRCm39) L160Q probably damaging Het
Mipol1 A T 12: 57,350,282 (GRCm39) S27C probably damaging Het
Mthfr T C 4: 148,132,596 (GRCm39) V217A probably damaging Het
Or5b105 A G 19: 13,079,898 (GRCm39) Y257H probably damaging Het
Or5p53 T A 7: 107,533,034 (GRCm39) C102* probably null Het
Pde1c T C 6: 56,100,019 (GRCm39) K614E possibly damaging Het
Pds5b A T 5: 150,671,577 (GRCm39) E407V probably damaging Het
Pdzph1 A G 17: 59,280,525 (GRCm39) S586P possibly damaging Het
Prkcb C T 7: 122,167,372 (GRCm39) R361W probably benign Het
Psen2 T A 1: 180,073,197 (GRCm39) probably null Het
Ptk2 T A 15: 73,103,805 (GRCm39) M82L probably benign Het
Ptk2b T C 14: 66,411,331 (GRCm39) D400G probably damaging Het
Samd8 G A 14: 21,842,503 (GRCm39) R275Q possibly damaging Het
Senp2 A G 16: 21,857,386 (GRCm39) T403A possibly damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Skap2 T A 6: 51,980,649 (GRCm39) I52L probably benign Het
Slc5a7 T C 17: 54,584,168 (GRCm39) D374G possibly damaging Het
Slmap A T 14: 26,147,763 (GRCm39) L699M possibly damaging Het
Sntg1 A C 1: 8,665,706 (GRCm39) C203G possibly damaging Het
Stard9 T C 2: 120,533,594 (GRCm39) S3284P probably benign Het
Tbx21 T C 11: 97,005,857 (GRCm39) Y36C probably damaging Het
Tecpr2 A G 12: 110,906,311 (GRCm39) Y971C probably damaging Het
Trpm5 T A 7: 142,641,500 (GRCm39) I137F possibly damaging Het
Unk A G 11: 115,945,232 (GRCm39) K426E probably damaging Het
Zc3hc1 T C 6: 30,375,981 (GRCm39) D193G 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
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
Predicted Primers PCR Primer
(F):5'- CCTGAGGTAAGGAAGCCTTGAG -3'
(R):5'- TAAGCATAGAAGCTGGCCATG -3'

Sequencing Primer
(F):5'- AAGCCTTGAGGACCCAGTAGC -3'
(R):5'- CCATGTAGGCTGAAAGGTTTGTCAC -3'
Posted On 2016-03-01