Incidental Mutation 'R4919:Klhl17'
ID 378468
Institutional Source Beutler Lab
Gene Symbol Klhl17
Ensembl Gene ENSMUSG00000078484
Gene Name kelch-like 17
Synonyms actinfilin
MMRRC Submission 042521-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R4919 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 156313792-156319314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 156318344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 93 (V93I)
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: V93I

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485
AA Change: V93I

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
Meta Mutation Damage Score 0.1390 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 100% (46/46)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
3425401B19Rik T C 14: 32,385,245 (GRCm39) D240G possibly damaging Het
Aplf T C 6: 87,607,046 (GRCm39) D456G possibly damaging Het
Brd8 A G 18: 34,740,489 (GRCm39) F445S probably damaging Het
Coro1b C T 19: 4,200,709 (GRCm39) R214C possibly damaging Het
Dop1a T A 9: 86,402,109 (GRCm39) I1101K possibly damaging Het
Enpp1 A G 10: 24,523,983 (GRCm39) V728A probably benign Het
Gosr1 T A 11: 76,625,392 (GRCm39) probably null Het
Grhl3 T A 4: 135,286,415 (GRCm39) K89* probably null Het
Ino80 T A 2: 119,273,073 (GRCm39) T468S probably damaging Het
Kcnab2 T C 4: 152,486,397 (GRCm39) K134E probably damaging Het
Kmt2c G T 5: 25,519,393 (GRCm39) P2239Q possibly damaging Het
Lnpep A G 17: 17,799,173 (GRCm39) F161L probably damaging Het
Lrp1b T A 2: 40,537,246 (GRCm39) I14F probably benign Het
Mbtd1 T A 11: 93,813,974 (GRCm39) probably null Het
Musk A C 4: 58,366,899 (GRCm39) I506L probably damaging Het
Mydgf C T 17: 56,483,953 (GRCm39) V158I probably damaging Het
Ncapd3 C T 9: 26,963,071 (GRCm39) P459S possibly damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or13a19 A T 7: 139,903,427 (GRCm39) K272* probably null Het
Or2w6 A T 13: 21,842,794 (GRCm39) I233N possibly damaging Het
Or5d45 A G 2: 88,153,992 (GRCm39) V19A probably benign Het
Pnmt T A 11: 98,277,477 (GRCm39) L7Q probably benign Het
Rerg T C 6: 137,033,142 (GRCm39) I197V probably damaging Het
Sgo2a T C 1: 58,037,293 (GRCm39) S13P probably damaging Het
Sim2 T C 16: 93,910,194 (GRCm39) S199P probably benign Het
Smc1b T C 15: 85,001,305 (GRCm39) probably benign Het
Spata7 T C 12: 98,614,712 (GRCm39) S115P possibly damaging Het
Ssh2 A G 11: 77,316,146 (GRCm39) T250A possibly damaging Het
Sv2a A G 3: 96,098,071 (GRCm39) N558S probably benign Het
Tia1 T A 6: 86,401,305 (GRCm39) probably benign Het
Tmem39a A G 16: 38,405,561 (GRCm39) Y46C probably benign Het
Vmn2r2 A G 3: 64,024,578 (GRCm39) S668P possibly damaging Het
Vwa1 C A 4: 155,855,057 (GRCm39) A326S probably benign Het
Xpo6 A G 7: 125,752,115 (GRCm39) M327T 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
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'- AAACAGTGGATTAGGCGGCC -3'
(R):5'- TGCTGGGAGTTCTCAAAGGC -3'

Sequencing Primer
(F):5'- TGGATTAGGCGGCCTACCC -3'
(R):5'- GGTACAAACCCTGACCTAGTCCTG -3'
Posted On 2016-04-15