Incidental Mutation 'IGL01574:Klhl20'
ID91176
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl20
Ensembl Gene ENSMUSG00000026705
Gene Namekelch-like 20
SynonymsD930050H05Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.269) question?
Stock #IGL01574
Quality Score
Status
Chromosome1
Chromosomal Location161088375-161131511 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 161093726 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 53 (Y53C)
Ref Sequence ENSEMBL: ENSMUSP00000141213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111611] [ENSMUST00000117467] [ENSMUST00000195584]
Predicted Effect probably damaging
Transcript: ENSMUST00000111611
AA Change: Y562C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107238
Gene: ENSMUSG00000026705
AA Change: Y562C

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: Y562C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114044
Gene: ENSMUSG00000026705
AA Change: Y562C

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 probably damaging
Transcript: ENSMUST00000195584
AA Change: Y53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141213
Gene: ENSMUSG00000026705
AA Change: Y53C

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik T C 9: 22,444,130 V487A possibly damaging Het
Ankrd26 T G 6: 118,539,698 T502P probably damaging Het
Apoa4 C A 9: 46,242,985 Q295K probably benign Het
Asxl3 T G 18: 22,523,564 C1544G probably benign Het
Ccl7 G A 11: 82,046,625 V62I probably damaging Het
Ceacam20 C A 7: 19,974,322 T284K possibly damaging Het
Ces4a A T 8: 105,145,227 probably benign Het
Col4a2 G T 8: 11,439,306 G1147V probably damaging Het
Gtf3c4 T C 2: 28,834,436 D428G possibly damaging Het
Itgb2 G A 10: 77,557,964 V413I possibly damaging Het
Itgb7 T G 15: 102,227,540 E20A possibly damaging Het
Kank2 C A 9: 21,794,604 G373W probably damaging Het
Kif1a T A 1: 93,082,340 I28F probably damaging Het
Klhdc7b T C 15: 89,387,369 V818A probably benign Het
Mroh1 A G 15: 76,432,288 N772S probably benign Het
Mtmr4 C T 11: 87,600,647 T146I probably benign Het
Nup210 C T 6: 91,040,564 V1152I probably benign Het
Pclo T A 5: 14,713,448 D3978E unknown Het
Pkd1l3 T C 8: 109,623,771 L416P probably benign Het
Pkn2 T C 3: 142,839,231 M161V possibly damaging Het
Plxnb2 T C 15: 89,162,683 probably null Het
Polr2e C A 10: 80,039,633 D3Y probably damaging Het
Prss27 A T 17: 24,038,371 probably benign Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Tmem30c T A 16: 57,276,742 I152F possibly damaging Het
Usp2 G A 9: 44,093,803 R378H probably damaging Het
Vmn2r106 A T 17: 20,268,310 I609N possibly damaging Het
Vmn2r51 T A 7: 10,102,454 E133D probably damaging Het
Zkscan3 A T 13: 21,394,091 probably benign Het
Other mutations in Klhl20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Klhl20 APN 1 161109755 missense probably benign 0.00
IGL00903:Klhl20 APN 1 161090506 missense probably benign 0.00
IGL01721:Klhl20 APN 1 161095587 missense probably damaging 1.00
IGL01933:Klhl20 APN 1 161106787 missense probably damaging 1.00
IGL02187:Klhl20 APN 1 161109710 missense probably benign 0.05
IGL02634:Klhl20 APN 1 161098365 missense probably damaging 0.98
IGL02691:Klhl20 APN 1 161106874 splice site probably benign
R0102:Klhl20 UTSW 1 161090445 nonsense probably null
R0102:Klhl20 UTSW 1 161090445 nonsense probably null
R0639:Klhl20 UTSW 1 161093711 missense probably damaging 1.00
R1730:Klhl20 UTSW 1 161102990 missense possibly damaging 0.82
R1856:Klhl20 UTSW 1 161106742 missense probably benign 0.00
R2016:Klhl20 UTSW 1 161103038 missense probably damaging 0.98
R2901:Klhl20 UTSW 1 161109552 nonsense probably null
R4822:Klhl20 UTSW 1 161093763 nonsense probably null
R4830:Klhl20 UTSW 1 161098376 missense probably benign 0.00
R4894:Klhl20 UTSW 1 161109532 missense possibly damaging 0.76
R4981:Klhl20 UTSW 1 161103005 missense possibly damaging 0.48
R5018:Klhl20 UTSW 1 161101586 missense probably damaging 0.98
R5023:Klhl20 UTSW 1 161109220 critical splice donor site probably null
R5108:Klhl20 UTSW 1 161099250 missense probably damaging 0.99
R5216:Klhl20 UTSW 1 161093679 critical splice donor site probably null
R5659:Klhl20 UTSW 1 161090470 missense probably damaging 1.00
R6159:Klhl20 UTSW 1 161105467 missense probably damaging 1.00
R6836:Klhl20 UTSW 1 161105406 missense probably benign 0.18
R6914:Klhl20 UTSW 1 161093696 missense possibly damaging 0.50
R6915:Klhl20 UTSW 1 161093696 missense possibly damaging 0.50
R6920:Klhl20 UTSW 1 161093696 missense possibly damaging 0.50
R7706:Klhl20 UTSW 1 161109257 missense probably benign 0.01
R7976:Klhl20 UTSW 1 161106737 missense probably benign 0.02
R7991:Klhl20 UTSW 1 161106864 missense possibly damaging 0.89
R8085:Klhl20 UTSW 1 161093784 missense probably damaging 1.00
R8118:Klhl20 UTSW 1 161098401 splice site probably null
R8204:Klhl20 UTSW 1 161106844 missense probably benign 0.04
R8678:Klhl20 UTSW 1 161109427 missense probably damaging 1.00
Posted On2013-12-09