Incidental Mutation 'R5108:Klhl20'
ID 393638
Institutional Source Beutler Lab
Gene Symbol Klhl20
Ensembl Gene ENSMUSG00000026705
Gene Name kelch-like 20
Synonyms D930050H05Rik
MMRRC Submission 042696-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.613) question?
Stock # R5108 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 160915945-160959078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 160926820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 391 (V391E)
Ref Sequence ENSEMBL: ENSMUSP00000114044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111611] [ENSMUST00000117467] [ENSMUST00000195584]
AlphaFold Q8VCK5
Predicted Effect probably damaging
Transcript: ENSMUST00000111611
AA Change: V391E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107238
Gene: ENSMUSG00000026705
AA Change: V391E

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: V391E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114044
Gene: ENSMUSG00000026705
AA Change: V391E

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 benign
Transcript: ENSMUST00000195584
SMART Domains Protein: ENSMUSP00000141213
Gene: ENSMUSG00000026705

DomainStartEndE-ValueType
Kelch 1 40 1.43e-4 SMART
Kelch 41 87 1.59e-11 SMART
Meta Mutation Damage Score 0.5556 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 99% (79/80)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,094,207 (GRCm39) N94Y probably damaging Het
Ak2 A G 4: 128,896,034 (GRCm39) T104A probably damaging Het
Alox12b G T 11: 69,048,208 (GRCm39) A46S probably benign Het
Ank1 G T 8: 23,622,571 (GRCm39) V1662F probably benign Het
Anxa3 T C 5: 96,978,273 (GRCm39) I219T possibly damaging Het
Aoc1l3 C T 6: 48,965,504 (GRCm39) T504I probably damaging Het
Arhgap40 G A 2: 158,389,599 (GRCm39) V588M probably damaging Het
Arhgef38 T C 3: 132,843,029 (GRCm39) T514A probably benign Het
Ascl4 C A 10: 85,764,422 (GRCm39) A23E probably benign Het
Bcl11b T C 12: 107,931,985 (GRCm39) T196A probably benign Het
C1ra A T 6: 124,499,881 (GRCm39) Y689F probably damaging Het
Ccr3 A G 9: 123,828,968 (GRCm39) N101S probably benign Het
Cep70 A T 9: 99,145,865 (GRCm39) probably null Het
Ces1b A G 8: 93,798,541 (GRCm39) V215A probably damaging Het
Cndp1 A T 18: 84,650,186 (GRCm39) I169N probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbxo2 A G 4: 148,250,486 (GRCm39) Q275R probably damaging Het
Fbxo44 T C 4: 148,243,020 (GRCm39) N133S probably damaging Het
Fzr1 C T 10: 81,205,284 (GRCm39) probably benign Het
Grn T C 11: 102,325,228 (GRCm39) S213P probably benign Het
Ifi203 A T 1: 173,751,580 (GRCm39) C414S probably damaging Het
Igfn1 C T 1: 135,910,179 (GRCm39) R135H probably benign Het
Kcnk10 T C 12: 98,401,560 (GRCm39) M358V probably benign Het
Kcnn2 A T 18: 45,725,122 (GRCm39) Y471F probably damaging Het
Krt1c C T 15: 101,721,721 (GRCm39) G440D possibly damaging Het
Lpin1 A T 12: 16,623,716 (GRCm39) Y223N probably benign Het
Luzp2 G A 7: 54,915,038 (GRCm39) C321Y probably damaging Het
Mcm3ap T C 10: 76,338,536 (GRCm39) V1388A probably benign Het
Mdga2 A T 12: 66,533,515 (GRCm39) H223Q probably benign Het
Mgat4e G T 1: 134,468,961 (GRCm39) P361Q probably benign Het
Mylk3 A T 8: 86,085,721 (GRCm39) I208N possibly damaging Het
Myom2 T A 8: 15,182,667 (GRCm39) V1368E probably damaging Het
Mypn C T 10: 62,972,073 (GRCm39) D656N probably damaging Het
Nat10 C A 2: 103,562,548 (GRCm39) R596L probably damaging Het
Nek8 T C 11: 78,063,353 (GRCm39) D137G probably damaging Het
Neurl1a A G 19: 47,246,074 (GRCm39) K552E probably damaging Het
Npdc1 C T 2: 25,298,667 (GRCm39) H260Y probably damaging Het
Nuggc A T 14: 65,876,129 (GRCm39) I581F probably damaging Het
Or8d23 T A 9: 38,842,151 (GRCm39) I228N probably damaging Het
P2rx6 T C 16: 17,380,037 (GRCm39) Y54H probably damaging Het
Pcmtd2 A G 2: 181,486,216 (GRCm39) E112G probably damaging Het
Pcnx4 G A 12: 72,620,855 (GRCm39) V892I probably benign Het
Pdss1 T A 2: 22,796,895 (GRCm39) V136E possibly damaging Het
Pias3 T C 3: 96,612,253 (GRCm39) L561P possibly damaging Het
Pomgnt1 G A 4: 116,013,453 (GRCm39) probably benign Het
Scn2a C T 2: 65,518,974 (GRCm39) T400I probably damaging Het
Sec24d T A 3: 123,099,434 (GRCm39) probably null Het
Sftpb T G 6: 72,281,640 (GRCm39) L11R probably damaging Het
Slc22a19 A G 19: 7,688,536 (GRCm39) I8T probably benign Het
Slc22a30 A G 19: 8,363,790 (GRCm39) S266P probably damaging Het
Slc36a2 C A 11: 55,050,214 (GRCm39) G465W probably damaging Het
Slc4a2 G A 5: 24,644,331 (GRCm39) M976I probably damaging Het
Smcr8 C T 11: 60,670,696 (GRCm39) Q615* probably null Het
Sobp T C 10: 43,036,815 (GRCm39) E41G probably damaging Het
Spopfm1 C T 3: 94,173,142 (GRCm39) S50L probably damaging Het
Spz1 A T 13: 92,711,554 (GRCm39) C307* probably null Het
Sult1d1 C T 5: 87,711,728 (GRCm39) probably null Het
Tas2r110 T C 6: 132,845,668 (GRCm39) M233T probably damaging Het
Tmc3 C A 7: 83,269,156 (GRCm39) S781R probably damaging Het
Tmem234 G T 4: 129,495,730 (GRCm39) probably benign Het
Trpm3 A T 19: 22,882,078 (GRCm39) Q645L probably benign Het
Ttn C A 2: 76,565,055 (GRCm39) V28391F probably damaging Het
Txnrd3 G T 6: 89,650,016 (GRCm39) A425S probably benign Het
Ubr1 C T 2: 120,793,903 (GRCm39) G94R probably benign Het
Ufl1 A G 4: 25,269,026 (GRCm39) probably null Het
Utp20 T C 10: 88,604,735 (GRCm39) D1720G probably benign Het
Vmn1r13 T A 6: 57,186,901 (GRCm39) M20K probably benign Het
Vmn1r61 A G 7: 5,613,519 (GRCm39) I265T probably benign Het
Zfp120 T C 2: 149,961,862 (GRCm39) T29A probably damaging 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
IGL01721:Klhl20 APN 1 160,923,157 (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
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
Predicted Primers PCR Primer
(F):5'- TAAGCTCTAGGCCATTTCGG -3'
(R):5'- GCATATGGTCCCTCAGTTCAATC -3'

Sequencing Primer
(F):5'- CATTTCGGGCTACATAAAACTGC -3'
(R):5'- AATCCCCATTCATATGCCTTGATTG -3'
Posted On 2016-06-15