Incidental Mutation 'RF005:Kl'
ID 602746
Institutional Source Beutler Lab
Gene Symbol Kl
Ensembl Gene ENSMUSG00000058488
Gene Name klotho
Synonyms alpha-kl
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF005 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 150876072-150917282 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 150876885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 235 (Y235S)
Ref Sequence ENSEMBL: ENSMUSP00000077899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078856]
AlphaFold O35082
Predicted Effect probably benign
Transcript: ENSMUST00000078856
AA Change: Y235S

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000077899
Gene: ENSMUSG00000058488
AA Change: Y235S

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
low complexity region 45 56 N/A INTRINSIC
Pfam:Glyco_hydro_1 59 380 4.3e-99 PFAM
Pfam:Glyco_hydro_1 376 508 7.9e-33 PFAM
Pfam:Glyco_hydro_1 517 955 1e-79 PFAM
transmembrane domain 984 1006 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.6%
Validation Efficiency 94% (65/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have a short lifespan and growth retardation with one allele homeostatic imbalances and soft tissue calcification are also seen. With a second allele abnormal cancellous bone and femur morphology are seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik AGAAAGGAAAAGGTGGCCAG AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,847 (GRCm39) probably benign Het
A030005L19Rik CTGCTG CTGCTGTGGATGCTG 1: 82,891,306 (GRCm39) probably benign Het
Abca1 G T 4: 53,049,125 (GRCm39) T1651N probably damaging Het
Adamtsl3 A G 7: 82,261,603 (GRCm39) T40A Het
Adgra3 A T 5: 50,170,729 (GRCm39) probably null Het
Apcs A T 1: 172,721,809 (GRCm39) M179K probably damaging Het
Baiap2 G A 11: 119,887,355 (GRCm39) E217K possibly damaging Het
Bltp3a A T 17: 28,104,505 (GRCm39) D517V probably damaging Het
Ccdc69 A G 11: 54,951,349 (GRCm39) L24P probably damaging Het
Cdh16 T G 8: 105,343,684 (GRCm39) N604T probably damaging Het
Cfb C T 17: 35,077,022 (GRCm39) V538I possibly damaging Het
Col6a3 A G 1: 90,738,984 (GRCm39) S1022P probably benign Het
Cpeb1 A G 7: 81,011,554 (GRCm39) L129S possibly damaging Het
Crybg1 A G 10: 43,880,741 (GRCm39) V149A probably benign Het
Cyp4f16 C A 17: 32,764,169 (GRCm39) probably null Het
Dlg5 G A 14: 24,208,561 (GRCm39) Q882* probably null Het
Fsip2 T A 2: 82,822,876 (GRCm39) I6203K probably benign Het
Gabre CCGGCT CCGGCTACGGCT X: 71,313,651 (GRCm39) probably null Het
Gprc5d A T 6: 135,093,517 (GRCm39) L130Q probably damaging Het
H13 G A 2: 152,511,589 (GRCm39) E30K probably damaging Het
Hmcn1 T A 1: 150,510,897 (GRCm39) K3609* probably null Het
Hsdl2 GCTGCAG GCTGCAGCAGCAGCCACATCTGCAG 4: 59,610,652 (GRCm39) probably benign Het
Map6d1 G A 16: 20,059,750 (GRCm39) T105I probably benign Het
Mast4 GGTGGTGGTGG GGTGGTGGTGGTGGTGG 13: 102,872,815 (GRCm39) probably benign Het
Mbd1 TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC 18: 74,406,644 (GRCm39) probably benign Het
Mms22l A G 4: 24,517,207 (GRCm39) I363V probably benign Het
Myo7a T C 7: 97,742,824 (GRCm39) I391V probably benign Het
Nab2 A T 10: 127,500,233 (GRCm39) D286E probably benign Het
Nrxn1 G A 17: 90,670,304 (GRCm39) R1144C probably damaging Het
Or51q1 A G 7: 103,628,768 (GRCm39) D123G probably damaging Het
Or52j3 T C 7: 102,835,898 (GRCm39) I30T possibly damaging Het
Or5al5 T C 2: 85,961,414 (GRCm39) M198V probably benign Het
Pan2 G A 10: 128,151,404 (GRCm39) E842K probably benign Het
Pate11 T C 9: 36,386,970 (GRCm39) S13P possibly damaging Het
Polr1has CACCACCACCACCACCACCAC CACCACCACCACCACCACCACAACCACCACCACCACCACCAC 17: 37,275,940 (GRCm39) probably benign Het
Prex2 A C 1: 11,255,390 (GRCm39) D1145A possibly damaging Het
Prop1 A C 11: 50,841,957 (GRCm39) Y150D possibly damaging Het
Prp2 AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC 6: 132,577,464 (GRCm39) probably benign Het
Psip1 T C 4: 83,378,735 (GRCm39) I353M probably damaging Het
Rapgef1 C A 2: 29,597,207 (GRCm39) probably null Het
Rgl1 G A 1: 152,397,114 (GRCm39) S684L probably benign Het
Sbf2 T A 7: 109,916,215 (GRCm39) D1552V probably damaging Het
Scpppq1 A C 5: 104,222,725 (GRCm39) probably null Het
Serpinh1 C T 7: 98,995,410 (GRCm39) V391M probably damaging Het
Slc35e4 A T 11: 3,857,960 (GRCm39) L215Q possibly damaging Het
Tbl3 TCTT TCTTCTT 17: 24,921,515 (GRCm39) probably benign Het
Tex15 T A 8: 34,066,705 (GRCm39) M2045K probably benign Het
Tmprss15 T C 16: 78,750,689 (GRCm39) *1070W probably null Het
Trav15-2-dv6-2 GAA GAACAA 14: 53,887,211 (GRCm39) probably benign Het
Trav15-2-dv6-2 GGGAG GGGAGGAG 14: 53,887,207 (GRCm39) probably benign Het
Trav15-2-dv6-2 GGAG GGAGGAG 14: 53,887,208 (GRCm39) probably benign Het
Trim33 GCCCCGGCCCCCG GCCCCG 3: 103,187,528 (GRCm39) probably null Het
Triobp GACAA GACAACCCCAGGACTCCCTGTGCCCAACGGAACAA 15: 78,851,261 (GRCm39) probably benign Het
Tub C A 7: 108,621,846 (GRCm39) Q95K probably benign Het
Usp9y T A Y: 1,435,046 (GRCm39) Q261L probably benign Het
Utp20 A T 10: 88,661,319 (GRCm39) D29E probably damaging Het
Vill G A 9: 118,889,507 (GRCm39) V148M probably damaging Het
Vmn2r120 C T 17: 57,828,991 (GRCm39) E535K possibly damaging Het
Zfp451 A T 1: 33,815,873 (GRCm39) Y692* probably null Het
Zfp599 A C 9: 22,165,180 (GRCm39) V65G probably benign Het
Zfp808 T C 13: 62,319,113 (GRCm39) V114A probably benign Het
Other mutations in Kl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00800:Kl APN 5 150,904,233 (GRCm39) nonsense probably null
IGL00815:Kl APN 5 150,904,315 (GRCm39) missense possibly damaging 0.55
IGL00840:Kl APN 5 150,904,252 (GRCm39) missense possibly damaging 0.90
IGL01347:Kl APN 5 150,904,130 (GRCm39) missense probably damaging 1.00
IGL01642:Kl APN 5 150,904,334 (GRCm39) missense possibly damaging 0.58
IGL01774:Kl APN 5 150,911,948 (GRCm39) missense probably benign 0.00
IGL01937:Kl APN 5 150,912,402 (GRCm39) missense probably damaging 0.99
IGL01945:Kl APN 5 150,912,402 (GRCm39) missense probably damaging 0.99
IGL02510:Kl APN 5 150,912,466 (GRCm39) missense probably damaging 1.00
IGL02696:Kl APN 5 150,904,450 (GRCm39) missense probably benign 0.01
IGL03028:Kl APN 5 150,915,015 (GRCm39) missense probably damaging 1.00
IGL03149:Kl APN 5 150,906,200 (GRCm39) nonsense probably null
anatolia UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
ararat UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
Turkic UTSW 5 150,876,755 (GRCm39) missense probably damaging 1.00
R0480:Kl UTSW 5 150,876,753 (GRCm39) missense probably damaging 1.00
R0565:Kl UTSW 5 150,904,409 (GRCm39) missense possibly damaging 0.76
R0723:Kl UTSW 5 150,876,566 (GRCm39) missense probably damaging 1.00
R1052:Kl UTSW 5 150,905,985 (GRCm39) missense probably damaging 1.00
R1205:Kl UTSW 5 150,904,153 (GRCm39) missense probably damaging 1.00
R1512:Kl UTSW 5 150,912,062 (GRCm39) missense probably benign 0.00
R1529:Kl UTSW 5 150,912,406 (GRCm39) missense probably benign
R1588:Kl UTSW 5 150,906,097 (GRCm39) missense probably benign 0.20
R1714:Kl UTSW 5 150,876,798 (GRCm39) missense probably benign 0.05
R1748:Kl UTSW 5 150,904,450 (GRCm39) missense possibly damaging 0.87
R1885:Kl UTSW 5 150,876,959 (GRCm39) missense possibly damaging 0.67
R1920:Kl UTSW 5 150,906,132 (GRCm39) missense probably benign 0.15
R2156:Kl UTSW 5 150,912,425 (GRCm39) missense probably benign 0.41
R2926:Kl UTSW 5 150,876,806 (GRCm39) missense probably damaging 1.00
R4837:Kl UTSW 5 150,904,312 (GRCm39) missense possibly damaging 0.90
R5221:Kl UTSW 5 150,912,616 (GRCm39) missense probably damaging 1.00
R5687:Kl UTSW 5 150,911,931 (GRCm39) missense possibly damaging 0.84
R5726:Kl UTSW 5 150,915,003 (GRCm39) missense possibly damaging 0.91
R5727:Kl UTSW 5 150,915,003 (GRCm39) missense possibly damaging 0.91
R5735:Kl UTSW 5 150,915,003 (GRCm39) missense possibly damaging 0.91
R5797:Kl UTSW 5 150,915,003 (GRCm39) missense possibly damaging 0.91
R5933:Kl UTSW 5 150,912,948 (GRCm39) missense probably damaging 1.00
R6075:Kl UTSW 5 150,876,466 (GRCm39) missense probably damaging 1.00
R6076:Kl UTSW 5 150,876,466 (GRCm39) missense probably damaging 1.00
R6077:Kl UTSW 5 150,876,466 (GRCm39) missense probably damaging 1.00
R6149:Kl UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
R6150:Kl UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
R6151:Kl UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
R6158:Kl UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
R6236:Kl UTSW 5 150,876,755 (GRCm39) missense probably damaging 1.00
R6609:Kl UTSW 5 150,912,427 (GRCm39) missense probably benign 0.00
R7489:Kl UTSW 5 150,876,461 (GRCm39) missense probably damaging 1.00
R8406:Kl UTSW 5 150,906,229 (GRCm39) missense probably benign 0.01
R9026:Kl UTSW 5 150,876,491 (GRCm39) missense probably benign 0.23
R9087:Kl UTSW 5 150,911,957 (GRCm39) missense probably benign 0.19
R9380:Kl UTSW 5 150,912,342 (GRCm39) missense possibly damaging 0.50
RF024:Kl UTSW 5 150,876,885 (GRCm39) missense probably benign 0.07
X0066:Kl UTSW 5 150,915,080 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTACAACAACGTCTACCGCG -3'
(R):5'- CCTGTGTGACCTCGTAATGG -3'

Sequencing Primer
(F):5'- TCTACCGCGACACAGAGG -3'
(R):5'- TGACCTCGTAATGGGTTCAAGTAAG -3'
Posted On 2019-12-04