Incidental Mutation 'IGL00425:Klb'
ID5621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klb
Ensembl Gene ENSMUSG00000029195
Gene Nameklotho beta
SynonymsbetaKlotho
Accession Numbers

Genbank: NM_031180.2; Ensembl: ENSMUST00000031096;

MGI:1932466

Is this an essential gene? Possibly non essential (E-score: 0.496) question?
Stock #IGL00425
Quality Score
Status
Chromosome5
Chromosomal Location65348314-65384007 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 65372374 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 415 (N415S)
Ref Sequence ENSEMBL: ENSMUSP00000031096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031096] [ENSMUST00000205084]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031096
AA Change: N415S

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: N415S

DomainStartEndE-ValueType
Pfam:Glyco_hydro_1 77 385 8.8e-96 PFAM
Pfam:Glyco_hydro_1 374 506 1.7e-31 PFAM
Pfam:Glyco_hydro_1 515 965 6.3e-80 PFAM
transmembrane domain 995 1017 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205084
SMART Domains Protein: ENSMUSP00000145091
Gene: ENSMUSG00000029195

DomainStartEndE-ValueType
Pfam:Glyco_hydro_1 77 360 8.6e-94 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3587748
PHENOTYPE: Homozygous null mice display increased bile acid synthesis and excretion, resistance to gallstone formation, and slightly decreased body weight. Mice homozygous for a knock-out allele or a conditional allele activated in adipose tissue exhibit resistanceto FGF21-induced metabolic disruptions. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted(2) Gene trapped(3)

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 C T 14: 66,074,049 probably null Het
Adgrb2 A T 4: 130,019,072 H1373L probably benign Het
Adgrf4 A G 17: 42,666,656 S599P probably damaging Het
Atp9b G A 18: 80,917,888 probably benign Het
Baiap2 A G 11: 119,982,010 T125A probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Cacna2d2 T C 9: 107,527,351 S1114P probably damaging Het
Ccdc159 T C 9: 21,929,469 S111P possibly damaging Het
Cd177 T A 7: 24,759,751 T78S possibly damaging Het
Cdk5rap2 A G 4: 70,403,472 probably null Het
Cdkl3 C A 11: 52,029,856 T462K probably benign Het
Chid1 A C 7: 141,522,696 L208R probably damaging Het
Clca3b A G 3: 144,836,581 S487P probably benign Het
Col6a3 A T 1: 90,782,026 L1816Q unknown Het
Dido1 A G 2: 180,683,989 S469P probably benign Het
Dsg2 A G 18: 20,601,769 N935D probably benign Het
Fam126b A T 1: 58,540,253 probably benign Het
Fbxw2 A G 2: 34,812,949 I184T probably benign Het
Gbp9 T C 5: 105,105,754 I32V possibly damaging Het
Itgb8 G A 12: 119,189,826 T318I probably damaging Het
Kcnb2 A G 1: 15,711,012 S703G probably benign Het
Kif26b A T 1: 178,916,301 S1321C probably damaging Het
Megf10 C A 18: 57,240,628 A166D probably damaging Het
Mrm3 T G 11: 76,244,493 S177A probably damaging Het
Nav3 A G 10: 109,703,507 F2011S probably benign Het
Nipal1 C T 5: 72,658,724 S30L probably benign Het
Ogdhl T C 14: 32,346,490 Y895H probably damaging Het
Pif1 A G 9: 65,593,277 N495D probably damaging Het
Prrc2c A T 1: 162,720,613 probably null Het
Pygl T C 12: 70,191,092 D724G probably damaging Het
Runx1t1 A G 4: 13,835,663 D40G probably benign Het
Serhl A T 15: 83,105,637 D192V possibly damaging Het
Slc12a5 C T 2: 164,983,281 A461V probably damaging Het
Tomm34 A T 2: 164,058,662 probably benign Het
Zfp54 A G 17: 21,430,297 N45D probably damaging Het
Other mutations in Klb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Klb APN 5 65372149 missense probably damaging 1.00
IGL01082:Klb APN 5 65375940 missense possibly damaging 0.71
IGL01637:Klb APN 5 65375679 critical splice acceptor site probably null
IGL02098:Klb APN 5 65379885 missense probably benign 0.21
IGL03113:Klb APN 5 65383470 missense probably benign 0.00
1mM(1):Klb UTSW 5 65348650 missense probably damaging 1.00
P0016:Klb UTSW 5 65379923 nonsense probably null
R0268:Klb UTSW 5 65348837 missense probably benign 0.02
R0383:Klb UTSW 5 65372499 intron probably null
R0676:Klb UTSW 5 65379055 missense probably damaging 1.00
R0735:Klb UTSW 5 65379727 missense probably benign
R0972:Klb UTSW 5 65348746 missense possibly damaging 0.70
R1051:Klb UTSW 5 65379327 missense probably damaging 1.00
R1168:Klb UTSW 5 65378974 missense probably damaging 1.00
R1372:Klb UTSW 5 65348746 missense possibly damaging 0.70
R1403:Klb UTSW 5 65348746 missense possibly damaging 0.70
R1403:Klb UTSW 5 65348746 missense possibly damaging 0.70
R1446:Klb UTSW 5 65348995 missense probably damaging 1.00
R1696:Klb UTSW 5 65348746 missense possibly damaging 0.70
R1743:Klb UTSW 5 65375861 missense probably damaging 0.99
R1801:Klb UTSW 5 65349235 missense probably null 0.90
R1804:Klb UTSW 5 65379853 missense probably damaging 1.00
R1848:Klb UTSW 5 65348837 missense probably benign 0.02
R1967:Klb UTSW 5 65372074 missense probably damaging 0.98
R3420:Klb UTSW 5 65372142 missense probably damaging 1.00
R4397:Klb UTSW 5 65380039 missense probably damaging 1.00
R4490:Klb UTSW 5 65375794 missense probably benign 0.02
R4491:Klb UTSW 5 65375794 missense probably benign 0.02
R4547:Klb UTSW 5 65379928 missense probably benign 0.00
R4878:Klb UTSW 5 65348490 missense probably damaging 0.99
R5269:Klb UTSW 5 65348797 missense probably damaging 1.00
R5418:Klb UTSW 5 65383470 missense probably benign 0.00
R5453:Klb UTSW 5 65383385 missense probably benign 0.08
R5541:Klb UTSW 5 65379234 missense probably benign 0.27
R5672:Klb UTSW 5 65379949 missense possibly damaging 0.82
R5841:Klb UTSW 5 65379324 nonsense probably null
R6088:Klb UTSW 5 65349013 missense probably benign 0.07
R6807:Klb UTSW 5 65379534 missense probably damaging 1.00
R6955:Klb UTSW 5 65379088 nonsense probably null
R7068:Klb UTSW 5 65379340 missense probably damaging 1.00
R7284:Klb UTSW 5 65383478 missense probably benign 0.01
R7322:Klb UTSW 5 65383364 missense probably benign 0.44
R7346:Klb UTSW 5 65348631 nonsense probably null
R7366:Klb UTSW 5 65372431 missense probably damaging 1.00
Posted On2012-04-20