Incidental Mutation 'R6077:Kl'
ID 482785
Institutional Source Beutler Lab
Gene Symbol Kl
Ensembl Gene ENSMUSG00000058488
Gene Name klotho
Synonyms alpha-kl
MMRRC Submission 044238-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6077 (G1)
Quality Score 165.009
Status Not validated
Chromosome 5
Chromosomal Location 150876072-150917282 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 150876466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 95 (F95L)
Ref Sequence ENSEMBL: ENSMUSP00000077899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078856]
AlphaFold O35082
Predicted Effect probably damaging
Transcript: ENSMUST00000078856
AA Change: F95L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077899
Gene: ENSMUSG00000058488
AA Change: F95L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202096
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly C T 11: 100,410,583 (GRCm39) V132I probably benign Het
Adgrb3 A T 1: 25,133,081 (GRCm39) L1335* probably null Het
Adgre5 A G 8: 84,454,595 (GRCm39) S301P probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Aldh1b1 A G 4: 45,802,525 (GRCm39) Y21C possibly damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Ankrd7 T A 6: 18,868,071 (GRCm39) S112R probably benign Het
Arhgap23 T A 11: 97,382,058 (GRCm39) probably null Het
Atp4a G A 7: 30,415,344 (GRCm39) M321I probably benign Het
C2cd4d A T 3: 94,271,615 (GRCm39) R294W probably damaging Het
Carns1 T C 19: 4,220,875 (GRCm39) I352V probably benign Het
Cdh17 T A 4: 11,803,969 (GRCm39) S547R probably benign Het
Cdyl2 G T 8: 117,316,129 (GRCm39) N286K probably damaging Het
Fam186a C A 15: 99,840,584 (GRCm39) V1887L possibly damaging Het
Fat4 C T 3: 39,056,951 (GRCm39) R4216C probably damaging Het
Fcamr T C 1: 130,740,663 (GRCm39) W361R probably damaging Het
Helz2 G A 2: 180,874,831 (GRCm39) P1888S probably benign Het
Itih1 A T 14: 30,651,833 (GRCm39) F840L possibly damaging Het
Kansl2 T C 15: 98,429,312 (GRCm39) D146G probably benign Het
Kcnk18 T C 19: 59,223,746 (GRCm39) V297A probably damaging Het
Kif1a T C 1: 92,982,618 (GRCm39) T720A possibly damaging Het
Large2 C T 2: 92,196,915 (GRCm39) R423K probably benign Het
Lgals3bp A G 11: 118,290,568 (GRCm39) V13A probably damaging Het
Lrrd1 A G 5: 3,900,837 (GRCm39) I381V probably benign Het
Mastl A T 2: 23,045,806 (GRCm39) I23N probably damaging Het
Mettl23 T C 11: 116,739,728 (GRCm39) V1A possibly damaging Het
Mindy2 A G 9: 70,538,363 (GRCm39) V324A probably damaging Het
Mtmr4 T A 11: 87,501,845 (GRCm39) L633Q probably damaging Het
Myh1 G A 11: 67,102,273 (GRCm39) E855K probably damaging Het
Nin C T 12: 70,066,006 (GRCm39) A2026T probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Or2w1 A T 13: 21,317,463 (GRCm39) I173F probably benign Het
Otulin T C 15: 27,611,696 (GRCm39) T166A probably benign Het
P2ry14 T A 3: 59,022,798 (GRCm39) R230W probably damaging Het
Pcsk4 T C 10: 80,162,073 (GRCm39) E83G probably damaging Het
Raet1e C A 10: 22,057,887 (GRCm39) T218N possibly damaging Het
Rsf1 GCGGCGGC GCGGCGGCGTCGGCGGC 7: 97,229,135 (GRCm39) probably benign Het
Safb G A 17: 56,909,956 (GRCm39) probably benign Het
Scn7a T A 2: 66,527,940 (GRCm39) N850I probably damaging Het
Slc16a4 A G 3: 107,208,381 (GRCm39) D297G possibly damaging Het
Tcf7l2 A T 19: 55,905,868 (GRCm39) K278* probably null Het
Tesmin T C 19: 3,439,260 (GRCm39) V104A possibly damaging Het
Tiam1 A G 16: 89,594,918 (GRCm39) probably null Het
Tmc4 T C 7: 3,670,526 (GRCm39) T522A probably damaging Het
Tmprss3 T A 17: 31,408,141 (GRCm39) I274F possibly damaging Het
Topbp1 A G 9: 103,210,189 (GRCm39) K916E probably damaging Het
Trdv1 A G 14: 54,119,513 (GRCm39) D58G probably benign Het
Ube2g2 G T 10: 77,458,139 (GRCm39) probably benign Het
Unc5d G T 8: 29,165,335 (GRCm39) Q747K possibly damaging Het
Xpo6 A G 7: 125,709,124 (GRCm39) V819A possibly damaging Het
Zan T A 5: 137,412,559 (GRCm39) probably benign Het
Zfp317 T A 9: 19,558,184 (GRCm39) W133R 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
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
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'- CTCTGGATAATCATTGCTCGTGG -3'
(R):5'- AATCCCTGAAATGGTCGGCC -3'

Sequencing Primer
(F):5'- TCCCGCAGCATGCTAGC -3'
(R):5'- TGTGGCAGGTCCCAATGGTAC -3'
Posted On 2017-07-14