Incidental Mutation 'R5797:Kl'
ID 447269
Institutional Source Beutler Lab
Gene Symbol Kl
Ensembl Gene ENSMUSG00000058488
Gene Name klotho
Synonyms alpha-kl
MMRRC Submission 043209-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5797 (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: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T C 3: 40,887,986 (GRCm39) F277L probably benign Het
Acsf2 A G 11: 94,462,505 (GRCm39) V170A probably damaging Het
Amz2 G T 11: 109,317,905 (GRCm39) probably benign Het
Atp4a A G 7: 30,412,074 (GRCm39) Y65C probably damaging Het
Canx T C 11: 50,191,844 (GRCm39) I356V probably benign Het
Cfap54 T A 10: 92,803,438 (GRCm39) T1535S probably benign Het
Cts3 A T 13: 61,716,206 (GRCm39) W52R probably damaging Het
Cyb5rl A T 4: 106,941,404 (GRCm39) E276D possibly damaging Het
Dhx30 T C 9: 109,927,888 (GRCm39) N78S probably damaging Het
Dmap1 A T 4: 117,532,677 (GRCm39) V333E possibly damaging Het
Dnah10 A G 5: 124,898,450 (GRCm39) E3744G probably benign Het
Efcab6 C T 15: 83,808,478 (GRCm39) C828Y possibly damaging Het
Fam227b A C 2: 125,849,254 (GRCm39) I326S probably benign Het
Fbrs C A 7: 127,086,463 (GRCm39) H604Q probably damaging Het
Fshr T G 17: 89,318,503 (GRCm39) N129T probably damaging Het
Gja3 T C 14: 57,273,170 (GRCm39) R401G probably damaging Het
Gm572 G A 4: 148,751,255 (GRCm39) M209I probably benign Het
Gne G A 4: 44,060,030 (GRCm39) T121M probably damaging Het
Gnmt T C 17: 47,037,305 (GRCm39) N160D probably damaging Het
Kalrn T C 16: 34,032,619 (GRCm39) Y1125C probably damaging Het
Kif2a A T 13: 107,111,884 (GRCm39) C524S probably damaging Het
Lrrtm2 C T 18: 35,346,759 (GRCm39) R181H probably damaging Het
Mkln1 A G 6: 31,410,004 (GRCm39) D214G probably benign Het
Muc5b C A 7: 141,405,319 (GRCm39) T909N unknown Het
Myh13 T A 11: 67,225,828 (GRCm39) D335E possibly damaging Het
Myo5b A G 18: 74,834,592 (GRCm39) E884G probably benign Het
Naip1 T C 13: 100,581,034 (GRCm39) D71G possibly damaging Het
Nxpe4 T A 9: 48,307,838 (GRCm39) I314N possibly damaging Het
Pcnt T C 10: 76,228,590 (GRCm39) E1525G probably benign Het
Pkd1 T A 17: 24,811,615 (GRCm39) H153Q possibly damaging Het
Prkdc T A 16: 15,555,698 (GRCm39) Y2157* probably null Het
Scd3 T C 19: 44,203,950 (GRCm39) I46T probably benign Het
Sdha A T 13: 74,482,476 (GRCm39) M279K probably damaging Het
Slco4c1 A G 1: 96,746,829 (GRCm39) V671A probably benign Het
Slitrk3 T A 3: 72,955,962 (GRCm39) T937S probably damaging Het
Sncaip A T 18: 53,031,276 (GRCm39) T442S probably benign Het
Sptb T C 12: 76,650,473 (GRCm39) D1748G possibly damaging Het
Trmt9b A T 8: 36,965,569 (GRCm39) K30* probably null Het
Vmn2r12 A T 5: 109,233,736 (GRCm39) C825* probably null 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
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'- CAGCAAAGACTTCCGGGTTTG -3'

Sequencing Primer
(F):5'- CCCGGTGAAATCTGATGAGTCTC -3'
(R):5'- ACATTCGGTGCACACAGTG -3'
Posted On 2016-12-15