Incidental Mutation 'R0102:Klhl20'
ID17900
Institutional Source Beutler Lab
Gene Symbol Klhl20
Ensembl Gene ENSMUSG00000026705
Gene Namekelch-like 20
SynonymsD930050H05Rik
MMRRC Submission 038388-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.225) question?
Stock #R0102 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location161088375-161131511 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 161090445 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 90 (C90*)
Ref Sequence ENSEMBL: ENSMUSP00000141213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028035] [ENSMUST00000111611] [ENSMUST00000111618] [ENSMUST00000111620] [ENSMUST00000117467] [ENSMUST00000143486] [ENSMUST00000192150] [ENSMUST00000192850] [ENSMUST00000195571] [ENSMUST00000195584]
Predicted Effect probably benign
Transcript: ENSMUST00000028035
SMART Domains Protein: ENSMUSP00000028035
Gene: ENSMUSG00000026708

DomainStartEndE-ValueType
Pfam:CENP-L 177 327 3.3e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111611
AA Change: C599*
SMART Domains Protein: ENSMUSP00000107238
Gene: ENSMUSG00000026705
AA Change: C599*

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 benign
Transcript: ENSMUST00000111618
SMART Domains Protein: ENSMUSP00000107245
Gene: ENSMUSG00000026708

DomainStartEndE-ValueType
Pfam:CENP-L 177 327 5.4e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111620
SMART Domains Protein: ENSMUSP00000107247
Gene: ENSMUSG00000026708

DomainStartEndE-ValueType
Pfam:CENP-L 178 325 1.2e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117467
AA Change: C599*
SMART Domains Protein: ENSMUSP00000114044
Gene: ENSMUSG00000026705
AA Change: C599*

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 probably benign
Transcript: ENSMUST00000143486
Predicted Effect probably benign
Transcript: ENSMUST00000192150
Predicted Effect probably benign
Transcript: ENSMUST00000192850
Predicted Effect probably benign
Transcript: ENSMUST00000195571
Predicted Effect probably null
Transcript: ENSMUST00000195584
AA Change: C90*
SMART Domains Protein: ENSMUSP00000141213
Gene: ENSMUSG00000026705
AA Change: C90*

DomainStartEndE-ValueType
Kelch 1 40 1.43e-4 SMART
Kelch 41 87 1.59e-11 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 85.2%
  • 10x: 73.9%
  • 20x: 53.9%
Validation Efficiency 97% (84/87)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 138,068,113 K1021R probably damaging Het
1110008L16Rik A G 12: 55,382,297 D535G probably benign Het
2610528J11Rik G A 4: 118,529,565 V36M probably damaging Het
4930402F06Rik T A 2: 35,375,783 R292* probably null Het
4932415D10Rik T A 10: 82,283,556 K4540M probably damaging Het
Abcb4 T C 5: 8,909,194 F207S probably damaging Het
Adcy4 A C 14: 55,771,533 N812K probably benign Het
Afap1l2 G T 19: 56,928,440 probably benign Het
Arfgef2 A T 2: 166,845,465 H203L probably benign Het
Avl9 G T 6: 56,736,483 R242L probably benign Het
Bod1l G A 5: 41,817,269 P2234L probably benign Het
Cfi A C 3: 129,848,767 H90P probably damaging Het
Cyp2d10 C T 15: 82,404,593 M229I probably benign Het
Dnah5 A G 15: 28,245,751 probably benign Het
Dnttip2 G T 3: 122,275,803 M222I probably benign Het
Dync1li2 A T 8: 104,428,125 Y284N probably benign Het
Ebf1 T C 11: 44,991,455 Y413H probably benign Het
Exog A G 9: 119,452,253 T186A possibly damaging Het
Fam171a2 T C 11: 102,444,113 N66S possibly damaging Het
Gm17434 T A 5: 23,337,491 noncoding transcript Het
Gprc5a A T 6: 135,079,035 N160I probably damaging Het
Haus3 A G 5: 34,165,914 probably null Het
Krt84 T A 15: 101,528,703 I342L probably damaging Het
Lifr G A 15: 7,178,892 D584N probably damaging Het
Lmbrd2 G A 15: 9,183,952 R551K probably damaging Het
Lrtm1 T A 14: 29,022,227 probably benign Het
Mat1a T A 14: 41,120,230 probably benign Het
Mest A G 6: 30,746,270 I279V probably damaging Het
Mroh5 A T 15: 73,819,350 D155E probably benign Het
Naa25 A G 5: 121,435,569 D787G possibly damaging Het
Naaladl1 C T 19: 6,112,504 P465S probably damaging Het
Necab3 G A 2: 154,545,312 R302C probably damaging Het
Nsg1 A T 5: 38,158,910 D32E probably damaging Het
Ntrk2 T C 13: 58,808,793 V22A probably benign Het
Nuggc A G 14: 65,613,551 D290G probably null Het
Nup205 A T 6: 35,225,780 probably benign Het
Olfr1308 G C 2: 111,960,597 Q159E probably damaging Het
Olfr721-ps1 C T 14: 14,407,876 S218F probably damaging Het
Pde4b T A 4: 102,590,178 S9T probably benign Het
Phip A T 9: 82,905,792 probably null Het
Pitpnm3 C T 11: 72,056,246 V776M probably damaging Het
Pon2 A G 6: 5,289,091 probably benign Het
Ppp1r12b T A 1: 134,835,899 probably null Het
Ppp1r15b A G 1: 133,133,170 N475S probably damaging Het
Prrt3 A T 6: 113,497,829 L144H probably damaging Het
Psmb7 A G 2: 38,643,365 V50A possibly damaging Het
Sacs T A 14: 61,204,568 S1354R probably damaging Het
Sdcbp2 A G 2: 151,583,964 T29A probably benign Het
Shbg T A 11: 69,617,589 probably benign Het
Shcbp1 A G 8: 4,744,452 I447T probably damaging Het
Tcrg-V4 T G 13: 19,185,200 F38C possibly damaging Het
Thbd A T 2: 148,406,983 C322S probably damaging Het
Tnfrsf21 C T 17: 43,038,213 H239Y probably benign Het
Trappc12 A T 12: 28,746,752 F260L probably damaging Het
Trim10 C A 17: 36,870,182 H102N probably damaging Het
Ube2u A G 4: 100,549,925 T215A possibly damaging Het
Vcan T G 13: 89,703,668 T1058P probably benign Het
Vwa3b A C 1: 37,135,514 E670A probably damaging 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
IGL01574:Klhl20 APN 1 161093726 missense probably damaging 1.00
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
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
R8085:Klhl20 UTSW 1 161093784 missense probably damaging 1.00
R8204:Klhl20 UTSW 1 161106844 missense not run
Posted On2013-03-25