Incidental Mutation 'RF024:Kl'
ID 604050
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 # RF024 (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: 99.2%
  • 20x: 98.3%
Validation Efficiency 98% (55/56)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G T 4: 53,049,125 (GRCm39) T1651N probably damaging Het
Abca17 T TACCTG 17: 24,506,706 (GRCm39) probably null Het
Adgra3 A T 5: 50,170,729 (GRCm39) probably null Het
Ank1 T A 8: 23,609,360 (GRCm39) F1380I probably benign Het
Apcs A T 1: 172,721,809 (GRCm39) M179K probably damaging Het
Asb7 C T 7: 66,297,631 (GRCm39) R287Q probably damaging Het
Begain G GCCGCCT 12: 108,999,363 (GRCm39) probably null Het
Cacna2d1 A G 5: 16,230,774 (GRCm39) T69A possibly damaging Het
Ccdc170 CCA CCAACA 10: 4,511,024 (GRCm39) probably benign 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
Cfap251 GAAGAGGAGGAAGAGGAGGGGGAGAAGGAG GAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG 5: 123,391,952 (GRCm39) probably benign Het
Cfap251 GAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG GAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG 5: 123,391,946 (GRCm39) probably benign Het
Cfap251 GGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG GGAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG 5: 123,391,951 (GRCm39) probably benign Het
Crybg1 A G 10: 43,880,741 (GRCm39) V149A probably benign Het
Cyb5r4 ACACTGCCCAGGGA ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA 9: 86,922,488 (GRCm39) probably benign Het
Dnmt1 ACCTCGTT ACCTCGTTTTGGGGGCGGAGCACAGTTCCTCCCTCGTT 9: 20,821,434 (GRCm39) probably benign Het
Dnmt1 CAGTTCCTACCTCGTT CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT 9: 20,821,426 (GRCm39) probably null Het
Efhd2 CCGCCG CCGCCGACGCCG 4: 141,602,073 (GRCm39) probably benign Het
Enah GTGGCGGC G 1: 181,749,499 (GRCm39) probably null Het
Entpd2 CTT CTTT 2: 25,290,907 (GRCm39) probably null Het
Epha2 CCCCC CCCCCC 4: 141,050,717 (GRCm39) unknown Het
Fam114a2 T C 11: 57,383,859 (GRCm39) T359A probably benign Het
Farp1 A G 14: 121,474,560 (GRCm39) I258V probably damaging Het
Fbxw28 G T 9: 109,167,594 (GRCm39) Y54* probably null Het
Gabre CAGGCTCA C X: 71,313,783 (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
Herc2 C T 7: 55,876,273 (GRCm39) R4429C probably damaging Het
Kif21b A T 1: 136,086,079 (GRCm39) T817S probably damaging Het
Klk1b5 T A 7: 43,491,798 (GRCm39) V20D possibly damaging Het
Krtap28-10 TCCCACA TCCCACACCCACA 1: 83,019,844 (GRCm39) probably benign Het
Krtap28-10 CAC CACGACAGCCACAGCAAC 1: 83,019,973 (GRCm39) probably benign Het
Lamc2 T A 1: 153,027,801 (GRCm39) T208S possibly damaging Het
Map1a GCTCCAGCTCCA GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA 2: 121,136,788 (GRCm39) probably benign Het
Map3k5 A T 10: 19,975,918 (GRCm39) N804I probably damaging Het
Map6d1 G A 16: 20,059,750 (GRCm39) T105I probably benign Het
Mbd1 TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC 18: 74,406,644 (GRCm39) probably benign Het
Mbd1 GTCTTCGTCTGCATCTGCATCTGCATCT GTCT 18: 74,406,681 (GRCm39) probably benign Het
Mrgprx1 A AGAC 7: 47,671,259 (GRCm39) probably benign Het
Mroh2a C A 1: 88,170,207 (GRCm39) L710M probably damaging Het
Mrtfa TTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTG 15: 80,902,456 (GRCm39) probably benign Het
Msmb A G 14: 31,880,047 (GRCm39) D79G probably damaging 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
Otog A T 7: 45,937,093 (GRCm39) T1601S probably damaging Het
Pan2 G A 10: 128,151,404 (GRCm39) E842K probably benign Het
Pcca C T 14: 122,922,310 (GRCm39) T357I probably damaging Het
Pcnx1 C T 12: 81,964,501 (GRCm39) P223S probably damaging Het
Polr1has CACCACCACCACCAC CACCACCACCACCACCACCACTACCACCACCACCAC 17: 37,275,949 (GRCm39) probably benign Het
Prop1 A C 11: 50,841,957 (GRCm39) Y150D possibly damaging Het
Prss56 T C 1: 87,114,892 (GRCm39) L465P probably benign Het
Psip1 T C 4: 83,378,735 (GRCm39) I353M probably damaging Het
Rapgef3 A C 15: 97,658,621 (GRCm39) H170Q probably benign Het
Rasal2 A T 1: 156,975,360 (GRCm39) S1150T probably damaging Het
Rtbdn C CAGCGGA 8: 85,682,808 (GRCm39) probably benign Het
Sap30bp T A 11: 115,851,333 (GRCm39) I135N probably damaging Het
Sbp ATG ATGCTGACAACAAAGCTG 17: 24,164,361 (GRCm39) probably benign Het
Scpppq1 A C 5: 104,222,725 (GRCm39) probably null Het
Slc35e4 A T 11: 3,857,960 (GRCm39) L215Q possibly damaging Het
Slc6a20b A T 9: 123,427,407 (GRCm39) probably benign Het
Smarca2 CAGC CAGCCCAAGC 19: 26,608,420 (GRCm39) probably benign Het
Surf4 A T 2: 26,812,179 (GRCm39) I183N probably benign Het
Tcof1 CAG CAGAAG 18: 60,968,810 (GRCm39) probably benign Het
Timm23 T A 14: 31,902,512 (GRCm39) *210C probably null Het
Tnfaip8 ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC AC 18: 50,179,898 (GRCm39) probably benign Het
Trim66 A T 7: 109,059,947 (GRCm39) L813Q possibly damaging Het
Trip10 G A 17: 57,562,045 (GRCm39) A224T probably benign Het
Ttn T A 2: 76,738,369 (GRCm39) I4103F unknown Het
Ttn T C 2: 76,737,943 (GRCm39) T4245A unknown Het
Ubn2 T A 6: 38,440,563 (GRCm39) M313K probably damaging Het
Ubr5 T C 15: 38,028,896 (GRCm39) N521S Het
Utp20 A T 10: 88,661,319 (GRCm39) D29E probably damaging Het
Vmn2r60 T A 7: 41,790,363 (GRCm39) V450E probably benign Het
Wnt6 A T 1: 74,821,980 (GRCm39) D187V probably damaging Het
Zc3h14 T C 12: 98,725,120 (GRCm39) C261R probably damaging Het
Zfp384 GCCCAGGC GCCCAGGCCCAGCCCCAGGC 6: 125,013,452 (GRCm39) probably benign Het
Zfp395 C T 14: 65,622,874 (GRCm39) S3F unknown Het
Zfp583 T A 7: 6,319,981 (GRCm39) I344F probably damaging 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
Zfp933 G A 4: 147,910,898 (GRCm39) H233Y probably damaging 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
RF005: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'- AAGGATTTCTGGAAGTGGCTC -3'

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