Incidental Mutation 'R1512:Kl'
ID 168411
Institutional Source Beutler Lab
Gene Symbol Kl
Ensembl Gene ENSMUSG00000058488
Gene Name klotho
Synonyms alpha-kl
MMRRC Submission 039559-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1512 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 150876072-150917282 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 150912062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 604 (I604V)
Ref Sequence ENSEMBL: ENSMUSP00000077899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078856]
AlphaFold O35082
Predicted Effect probably benign
Transcript: ENSMUST00000078856
AA Change: I604V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000077899
Gene: ENSMUSG00000058488
AA Change: I604V

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 0.2733 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 95% (79/83)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,086,295 (GRCm39) D40E probably benign Het
Acsf2 C T 11: 94,452,224 (GRCm39) probably benign Het
Adamts19 C T 18: 59,181,917 (GRCm39) H1119Y possibly damaging Het
Akap6 A G 12: 52,983,937 (GRCm39) D827G probably damaging Het
Ankrd33b T C 15: 31,367,375 (GRCm39) D55G probably damaging Het
Ano5 T A 7: 51,229,316 (GRCm39) H569Q probably benign Het
Aox1 A G 1: 58,346,510 (GRCm39) D548G probably benign Het
Baz2a A G 10: 127,960,021 (GRCm39) D1433G possibly damaging Het
BC031181 T G 18: 75,141,767 (GRCm39) V8G probably damaging Het
Bicdl2 A T 17: 23,887,083 (GRCm39) M457L probably damaging Het
C130074G19Rik T C 1: 184,615,103 (GRCm39) D29G probably damaging Het
Cd200r1 A T 16: 44,586,390 (GRCm39) T7S probably benign Het
Cdc37 A G 9: 21,053,712 (GRCm39) probably benign Het
Cmtr2 T C 8: 110,949,267 (GRCm39) S526P probably damaging Het
Cntn2 G T 1: 132,451,430 (GRCm39) A433D probably damaging Het
Cntnap5a T C 1: 115,828,680 (GRCm39) S35P probably benign Het
Csf3r A G 4: 125,923,777 (GRCm39) T96A possibly damaging Het
Ctbs A G 3: 146,160,720 (GRCm39) N96D probably benign Het
Cyp26b1 C A 6: 84,553,979 (GRCm39) V213L probably benign Het
Dach1 A G 14: 98,138,835 (GRCm39) L536P probably damaging Het
Dcaf6 T C 1: 165,179,589 (GRCm39) Q517R probably benign Het
Dnah1 G T 14: 31,014,994 (GRCm39) Q1733K probably damaging Het
Dnah17 A T 11: 117,985,841 (GRCm39) I1416N probably benign Het
Dock11 G A X: 35,283,688 (GRCm39) R1102H probably damaging Het
Dpp8 T C 9: 64,971,096 (GRCm39) probably benign Het
Emc1 G A 4: 139,087,495 (GRCm39) probably null Het
Emc8 A G 8: 121,384,983 (GRCm39) L76P possibly damaging Het
Emx2 T C 19: 59,448,035 (GRCm39) Y130H possibly damaging Het
Fbf1 C T 11: 116,038,753 (GRCm39) R815Q probably damaging Het
Foxb2 G A 19: 16,849,878 (GRCm39) P376L probably damaging Het
Gabrb1 C A 5: 72,266,047 (GRCm39) L202I probably damaging Het
Gabrb1 T A 5: 72,266,048 (GRCm39) L202Q probably damaging Het
Grin2c T A 11: 115,144,676 (GRCm39) I617F probably damaging Het
Gtf2h3 T A 5: 124,728,933 (GRCm39) V164E probably damaging Het
Gusb T C 5: 130,029,731 (GRCm39) Q88R probably damaging Het
Hormad2 T A 11: 4,374,788 (GRCm39) K75N probably damaging Het
Il33 A G 19: 29,929,390 (GRCm39) T38A possibly damaging Het
Ivns1abp A T 1: 151,236,687 (GRCm39) Q416L possibly damaging Het
Ivns1abp G C 1: 151,236,688 (GRCm39) Q416H probably benign Het
Kcnh5 T A 12: 75,166,711 (GRCm39) H178L probably benign Het
Kif21b A G 1: 136,080,543 (GRCm39) N579S probably benign Het
Kif26a G C 12: 112,113,389 (GRCm39) R95P possibly damaging Het
Klhl24 A G 16: 19,941,686 (GRCm39) K545E probably damaging Het
Mcm3ap A G 10: 76,306,347 (GRCm39) I153M probably damaging Het
Meis1 T G 11: 18,831,682 (GRCm39) D452A probably damaging Het
Msantd4 C T 9: 4,384,138 (GRCm39) P153L probably benign Het
Myot A G 18: 44,475,422 (GRCm39) E181G probably damaging Het
Nf1 T C 11: 79,281,195 (GRCm39) F150S probably damaging Het
Nyap2 T A 1: 81,219,566 (GRCm39) S529R probably damaging Het
Or10d3 T C 9: 39,461,390 (GRCm39) Y259C probably damaging Het
Or12e10 A T 2: 87,640,988 (GRCm39) T275S probably benign Het
Or2y1c A G 11: 49,361,286 (GRCm39) I103V probably benign Het
Or8b56 T A 9: 38,739,660 (GRCm39) Y224* probably null Het
Pcnt C T 10: 76,240,496 (GRCm39) probably null Het
Pik3c3 T C 18: 30,455,289 (GRCm39) probably null Het
Pkdcc A T 17: 83,527,473 (GRCm39) Y217F possibly damaging Het
Pnpla6 C A 8: 3,585,459 (GRCm39) probably benign Het
Polr3gl T C 3: 96,488,190 (GRCm39) M26V probably benign Het
Ppp1r13b T C 12: 111,838,842 (GRCm39) N12S possibly damaging Het
Ppp1r26 G A 2: 28,341,528 (GRCm39) R386K probably benign Het
Prdm10 A G 9: 31,248,697 (GRCm39) E355G probably damaging Het
Prex2 T C 1: 11,131,554 (GRCm39) F41S possibly damaging Het
Prkar1b G T 5: 139,036,428 (GRCm39) Y231* probably null Het
Prkdc A T 16: 15,505,268 (GRCm39) I857L probably benign Het
Psg21 A T 7: 18,390,425 (GRCm39) N10K probably benign Het
Rapgef3 A T 15: 97,655,382 (GRCm39) V444E probably benign Het
Rnf17 A T 14: 56,705,243 (GRCm39) T716S probably benign Het
Rps6ka1 C T 4: 133,578,315 (GRCm39) R577H probably damaging Het
Scn1a A C 2: 66,161,629 (GRCm39) N306K possibly damaging Het
Skint6 A G 4: 113,095,329 (GRCm39) I110T probably damaging Het
Ssu2 A G 6: 112,364,959 (GRCm39) M1T probably null Het
Stag3 A T 5: 138,296,247 (GRCm39) T437S probably benign Het
Tal2 A G 4: 53,786,107 (GRCm39) Y96C probably benign Het
Thoc3 A T 13: 54,613,991 (GRCm39) probably null Het
Tle1 T C 4: 72,059,495 (GRCm39) D19G probably damaging Het
Trpm4 A G 7: 44,964,468 (GRCm39) I690T probably benign Het
Trpm6 A T 19: 18,853,295 (GRCm39) M1772L probably benign Het
Unc5b G A 10: 60,667,254 (GRCm39) probably benign Het
Usf3 G T 16: 44,041,561 (GRCm39) V2014F probably damaging Het
Utp18 C T 11: 93,776,390 (GRCm39) A32T probably benign Het
Wdfy4 A G 14: 32,682,765 (GRCm39) V2981A probably damaging Het
Zfp608 A G 18: 55,079,738 (GRCm39) V349A probably damaging Het
Znfx1 A C 2: 166,898,237 (GRCm39) I229S 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
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
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'- CCCGAATGTCTATCTGTGGGATGTG -3'
(R):5'- TGATCCAGAGATTGACCCAGTGACC -3'

Sequencing Primer
(F):5'- TGTGCATCACAGTAAGAGGC -3'
(R):5'- AAAACACAGGTTTGCGTAGTC -3'
Posted On 2014-04-13