Incidental Mutation 'IGL01721:Klhl20'
ID 105114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl20
Ensembl Gene ENSMUSG00000026705
Gene Name kelch-like 20
Synonyms D930050H05Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.613) question?
Stock # IGL01721
Quality Score
Status
Chromosome 1
Chromosomal Location 160915945-160959078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 160923157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 13 (Y13C)
Ref Sequence ENSEMBL: ENSMUSP00000141213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111611] [ENSMUST00000117467] [ENSMUST00000195584]
AlphaFold Q8VCK5
Predicted Effect probably damaging
Transcript: ENSMUST00000111611
AA Change: Y522C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107238
Gene: ENSMUSG00000026705
AA Change: Y522C

DomainStartEndE-ValueType
BTB 63 160 2.73e-31 SMART
BACK 165 267 1.98e-41 SMART
Kelch 314 360 8.45e-16 SMART
Kelch 361 408 1.35e-14 SMART
Kelch 409 455 5.12e-15 SMART
Kelch 456 502 1.22e-12 SMART
Kelch 503 549 1.35e-14 SMART
Kelch 550 596 1.59e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117467
AA Change: Y522C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114044
Gene: ENSMUSG00000026705
AA Change: Y522C

DomainStartEndE-ValueType
BTB 63 160 2.73e-31 SMART
BACK 165 267 1.98e-41 SMART
Kelch 314 360 8.45e-16 SMART
Kelch 361 408 1.35e-14 SMART
Kelch 409 455 5.12e-15 SMART
Kelch 456 502 1.22e-12 SMART
Kelch 503 549 1.35e-14 SMART
Kelch 550 596 1.59e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192890
Predicted Effect probably damaging
Transcript: ENSMUST00000195584
AA Change: Y13C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141213
Gene: ENSMUSG00000026705
AA Change: Y13C

DomainStartEndE-ValueType
Kelch 1 40 1.43e-4 SMART
Kelch 41 87 1.59e-11 SMART
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 a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit male sterility. Mice homozygous for a gene trap allele exhibit corneal vascularization and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,023,453 (GRCm39) M51V possibly damaging Het
Acad8 A G 9: 26,903,563 (GRCm39) probably benign Het
Atp2a2 A G 5: 122,638,855 (GRCm39) V53A possibly damaging Het
Bicra T C 7: 15,722,624 (GRCm39) T298A probably benign Het
Ccdc185 C T 1: 182,576,543 (GRCm39) E49K possibly damaging Het
Cfhr2 A G 1: 139,741,352 (GRCm39) S208P probably benign Het
Chd1 T C 17: 15,990,430 (GRCm39) Y1661H probably damaging Het
Cntnap5a A G 1: 116,085,367 (GRCm39) H435R probably benign Het
Cog8 A G 8: 107,780,697 (GRCm39) V187A probably benign Het
Col24a1 A G 3: 145,244,322 (GRCm39) H1532R probably benign Het
Dpp6 A G 5: 27,836,518 (GRCm39) Y336C probably damaging Het
Drosha T A 15: 12,846,198 (GRCm39) Y444* probably null Het
Egf A T 3: 129,491,371 (GRCm39) C374* probably null Het
Eif2b3 C T 4: 116,916,001 (GRCm39) H203Y probably damaging Het
Erbb4 A G 1: 68,293,722 (GRCm39) V723A possibly damaging Het
Fbxo21 T C 5: 118,126,855 (GRCm39) I202T probably benign Het
Gbp6 T C 5: 105,422,073 (GRCm39) M544V probably benign Het
Gm10750 T C 2: 148,857,964 (GRCm39) T96A unknown Het
Gm8232 A T 14: 44,674,640 (GRCm39) probably null Het
Gpi-ps A T 8: 5,689,896 (GRCm39) noncoding transcript Het
Gsdma3 T C 11: 98,528,782 (GRCm39) V412A possibly damaging Het
Hs6st1 A T 1: 36,108,016 (GRCm39) H93L probably damaging Het
Hsf2 G A 10: 57,372,277 (GRCm39) E77K probably benign Het
Ing3 T A 6: 21,968,879 (GRCm39) probably benign Het
Ints6 T C 14: 62,951,188 (GRCm39) I280M probably damaging Het
Kazn C A 4: 141,886,354 (GRCm39) probably null Het
Krtap26-1 G A 16: 88,444,060 (GRCm39) P187L probably damaging Het
Mga T A 2: 119,765,720 (GRCm39) I1329K probably damaging Het
Mindy4 A G 6: 55,200,984 (GRCm39) D223G probably damaging Het
Ncor2 T C 5: 125,128,001 (GRCm39) E124G probably damaging Het
Nfat5 G A 8: 108,071,611 (GRCm39) probably null Het
Nkain1 A G 4: 130,532,134 (GRCm38) F184L probably benign Het
Or8k25 T C 2: 86,243,677 (GRCm39) T240A probably damaging Het
Rars1 A T 11: 35,719,491 (GRCm39) F110L probably damaging Het
Rfx6 A C 10: 51,599,173 (GRCm39) K509N probably damaging Het
Serpinb2 T C 1: 107,443,333 (GRCm39) L44P probably damaging Het
Sin3a G A 9: 57,002,609 (GRCm39) R167Q probably damaging Het
Sos2 T A 12: 69,650,641 (GRCm39) T809S probably damaging Het
Stard9 A G 2: 120,533,811 (GRCm39) E3356G probably damaging Het
Vmn1r52 A G 6: 90,155,905 (GRCm39) T70A probably benign Het
Other mutations in Klhl20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Klhl20 APN 1 160,937,325 (GRCm39) missense probably benign 0.00
IGL00903:Klhl20 APN 1 160,918,076 (GRCm39) missense probably benign 0.00
IGL01574:Klhl20 APN 1 160,921,296 (GRCm39) missense probably damaging 1.00
IGL01933:Klhl20 APN 1 160,934,357 (GRCm39) missense probably damaging 1.00
IGL02187:Klhl20 APN 1 160,937,280 (GRCm39) missense probably benign 0.05
IGL02634:Klhl20 APN 1 160,925,935 (GRCm39) missense probably damaging 0.98
IGL02691:Klhl20 APN 1 160,934,444 (GRCm39) splice site probably benign
R0102:Klhl20 UTSW 1 160,918,015 (GRCm39) nonsense probably null
R0102:Klhl20 UTSW 1 160,918,015 (GRCm39) nonsense probably null
R0639:Klhl20 UTSW 1 160,921,281 (GRCm39) missense probably damaging 1.00
R1730:Klhl20 UTSW 1 160,930,560 (GRCm39) missense possibly damaging 0.82
R1856:Klhl20 UTSW 1 160,934,312 (GRCm39) missense probably benign 0.00
R2016:Klhl20 UTSW 1 160,930,608 (GRCm39) missense probably damaging 0.98
R2901:Klhl20 UTSW 1 160,937,122 (GRCm39) nonsense probably null
R4822:Klhl20 UTSW 1 160,921,333 (GRCm39) nonsense probably null
R4830:Klhl20 UTSW 1 160,925,946 (GRCm39) missense probably benign 0.00
R4894:Klhl20 UTSW 1 160,937,102 (GRCm39) missense possibly damaging 0.76
R4981:Klhl20 UTSW 1 160,930,575 (GRCm39) missense possibly damaging 0.48
R5018:Klhl20 UTSW 1 160,929,156 (GRCm39) missense probably damaging 0.98
R5023:Klhl20 UTSW 1 160,936,790 (GRCm39) critical splice donor site probably null
R5108:Klhl20 UTSW 1 160,926,820 (GRCm39) missense probably damaging 0.99
R5216:Klhl20 UTSW 1 160,921,249 (GRCm39) critical splice donor site probably null
R5659:Klhl20 UTSW 1 160,918,040 (GRCm39) missense probably damaging 1.00
R6159:Klhl20 UTSW 1 160,933,037 (GRCm39) missense probably damaging 1.00
R6836:Klhl20 UTSW 1 160,932,976 (GRCm39) missense probably benign 0.18
R6914:Klhl20 UTSW 1 160,921,266 (GRCm39) missense possibly damaging 0.50
R6915:Klhl20 UTSW 1 160,921,266 (GRCm39) missense possibly damaging 0.50
R6920:Klhl20 UTSW 1 160,921,266 (GRCm39) missense possibly damaging 0.50
R7706:Klhl20 UTSW 1 160,936,827 (GRCm39) missense probably benign 0.01
R7976:Klhl20 UTSW 1 160,934,307 (GRCm39) missense probably benign 0.02
R7991:Klhl20 UTSW 1 160,934,434 (GRCm39) missense possibly damaging 0.89
R8085:Klhl20 UTSW 1 160,921,354 (GRCm39) missense probably damaging 1.00
R8118:Klhl20 UTSW 1 160,925,971 (GRCm39) splice site probably null
R8204:Klhl20 UTSW 1 160,934,414 (GRCm39) missense probably benign 0.04
R8678:Klhl20 UTSW 1 160,936,997 (GRCm39) missense probably damaging 1.00
R9093:Klhl20 UTSW 1 160,923,231 (GRCm39) nonsense probably null
R9094:Klhl20 UTSW 1 160,933,055 (GRCm39) missense probably damaging 1.00
R9360:Klhl20 UTSW 1 160,921,269 (GRCm39) missense probably benign 0.06
R9532:Klhl20 UTSW 1 160,937,329 (GRCm39) missense probably benign
Posted On 2014-01-21