Incidental Mutation 'R5727:Kl'
ID 452554
Institutional Source Beutler Lab
Gene Symbol Kl
Ensembl Gene ENSMUSG00000058488
Gene Name klotho
Synonyms alpha-kl
MMRRC Submission 043190-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5727 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 150876072-150917282 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 150915003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 910 (N910S)
Ref Sequence ENSEMBL: ENSMUSP00000077899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078856]
AlphaFold O35082
Predicted Effect possibly damaging
Transcript: ENSMUST00000078856
AA Change: N910S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077899
Gene: ENSMUSG00000058488
AA Change: N910S

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
Meta Mutation Damage Score 0.3299 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 C A 14: 29,712,838 (GRCm39) L494M probably benign Het
Ahnak G T 19: 8,994,111 (GRCm39) A5132S probably damaging Het
Cadps G A 14: 12,486,525 (GRCm38) Q882* probably null Het
Cdhr2 G A 13: 54,872,121 (GRCm39) V662M possibly damaging Het
Cdyl2 T A 8: 117,309,907 (GRCm39) I350F probably damaging Het
Cfap44 T G 16: 44,255,805 (GRCm39) F966V probably damaging Het
Cpxm1 G A 2: 130,232,883 (GRCm39) R704* probably null Het
Dnah11 A T 12: 118,090,841 (GRCm39) F1034L probably damaging Het
Dpep2 A G 8: 106,713,075 (GRCm39) V440A probably benign Het
Ehmt2 A T 17: 35,125,008 (GRCm39) M11L possibly damaging Het
Eml2 C T 7: 18,924,685 (GRCm39) H185Y probably damaging Het
Gm10845 T A 14: 80,100,770 (GRCm39) noncoding transcript Het
Gm8122 T G 14: 43,091,477 (GRCm39) N97T unknown Het
Gnb1 A G 4: 155,639,559 (GRCm39) T263A probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ier5l A G 2: 30,363,171 (GRCm39) C285R possibly damaging Het
Kif21b A G 1: 136,097,747 (GRCm39) N1336D probably damaging Het
Lama1 A G 17: 68,122,219 (GRCm39) H2722R possibly damaging Het
Mdm2 A G 10: 117,538,212 (GRCm39) M13T possibly damaging Het
Micall1 T A 15: 79,014,678 (GRCm39) Y685N possibly damaging Het
Mthfd1l T G 10: 4,053,302 (GRCm39) S884A possibly damaging Het
Nkiras2 A G 11: 100,515,853 (GRCm39) Y60C probably damaging Het
Oc90 T G 15: 65,753,388 (GRCm39) R342S possibly damaging Het
Or11h23 C A 14: 50,947,817 (GRCm39) T10K possibly damaging Het
Or1j4 T C 2: 36,740,544 (GRCm39) L162P possibly damaging Het
Or4k35 T A 2: 111,100,197 (GRCm39) R172* probably null Het
Or4p20 T A 2: 88,253,791 (GRCm39) I193F probably benign Het
Or9s13 A G 1: 92,547,900 (GRCm39) N91D probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Parp9 G T 16: 35,784,467 (GRCm39) E507* probably null Het
Pex13 A G 11: 23,605,705 (GRCm39) I175T probably benign Het
Phf12 A G 11: 77,914,370 (GRCm39) E604G probably damaging Het
Ppfia4 A T 1: 134,251,815 (GRCm39) probably null Het
Rragc T C 4: 123,813,828 (GRCm39) Y141H possibly damaging Het
Slc35g3 A G 11: 69,651,280 (GRCm39) V257A probably benign Het
Snx5 T C 2: 144,102,674 (GRCm39) T80A probably benign Het
Sorcs2 G A 5: 36,188,630 (GRCm39) A826V possibly damaging Het
Sptb G A 12: 76,669,888 (GRCm39) A480V probably benign Het
Tmem161b T A 13: 84,434,909 (GRCm39) S302R possibly damaging Het
Ube2o A T 11: 116,430,496 (GRCm39) F1081I probably damaging Het
Vmn2r2 T C 3: 64,024,608 (GRCm39) I658V probably benign Het
Vwa3b T G 1: 37,174,600 (GRCm39) L672V probably benign Het
Wscd2 T C 5: 113,715,411 (GRCm39) F417S possibly 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
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
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'- TCTGGTGTGAAATCTTTCCCG -3'
(R):5'- AGCAAAGACTTCCGGGTTTG -3'

Sequencing Primer
(F):5'- CCCGGTGAAATCTGATGAGTCTC -3'
(R):5'- ACATTCGGTGCACACAGTG -3'
Posted On 2017-01-03