Incidental Mutation 'IGL01082:Klb'
ID 51060
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klb
Ensembl Gene ENSMUSG00000029195
Gene Name klotho beta
Synonyms betaKlotho
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # IGL01082
Quality Score
Status
Chromosome 5
Chromosomal Location 65505657-65541350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65533283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 531 (V531I)
Ref Sequence ENSEMBL: ENSMUSP00000031096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031096] [ENSMUST00000205084]
AlphaFold Q99N32
Predicted Effect possibly damaging
Transcript: ENSMUST00000031096
AA Change: V531I

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: V531I

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 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,353,273 (GRCm39) S723F probably damaging Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Ccdc116 A G 16: 16,959,856 (GRCm39) S278P probably damaging Het
Cep152 A T 2: 125,411,465 (GRCm39) probably benign Het
Cftr T C 6: 18,226,102 (GRCm39) V350A probably damaging Het
Dsc2 A T 18: 20,176,849 (GRCm39) N399K probably damaging Het
Eif3d T C 15: 77,843,943 (GRCm39) T468A probably damaging Het
Fam110b C T 4: 5,799,461 (GRCm39) A293V possibly damaging Het
Flrt1 T C 19: 7,073,339 (GRCm39) T403A probably benign Het
H3c6 A G 13: 23,746,548 (GRCm39) probably benign Het
Ift140 T A 17: 25,267,429 (GRCm39) V609E possibly damaging Het
Krt73 T C 15: 101,707,372 (GRCm39) probably null Het
Mcm2 A G 6: 88,864,859 (GRCm39) V539A probably benign Het
Myb A G 10: 21,028,843 (GRCm39) V85A probably damaging Het
Ndufs1 T C 1: 63,203,976 (GRCm39) E102G probably damaging Het
Nr5a2 C A 1: 136,773,206 (GRCm39) A499S probably benign Het
Opa1 A T 16: 29,436,933 (GRCm39) probably benign Het
Or14j5 T A 17: 38,161,514 (GRCm39) S10R probably benign Het
Or4a47 A T 2: 89,674,407 (GRCm39) probably benign Het
Or4c11b T C 2: 88,625,637 (GRCm39) F304L probably benign Het
Pcnx1 G A 12: 82,037,372 (GRCm39) E1877K possibly damaging Het
Sel1l A G 12: 91,778,682 (GRCm39) V711A probably benign Het
Slc22a16 A G 10: 40,449,860 (GRCm39) T120A probably benign Het
Slc26a1 G T 5: 108,819,744 (GRCm39) T485N possibly damaging Het
Sp100 T C 1: 85,597,741 (GRCm39) V201A possibly damaging Het
Spz1 T G 13: 92,712,029 (GRCm39) K149T probably damaging Het
Stxbp5l A G 16: 37,024,940 (GRCm39) S553P possibly damaging Het
Szt2 A G 4: 118,254,821 (GRCm39) S290P probably damaging Het
Tbc1d10c A G 19: 4,239,026 (GRCm39) Y165H probably damaging Het
Tnxb C A 17: 34,933,584 (GRCm39) Q2335K probably damaging Het
Trim33 T C 3: 103,234,175 (GRCm39) I471T possibly damaging Het
Vsig10 A G 5: 117,472,970 (GRCm39) I188V probably benign Het
Zfp109 A T 7: 23,933,784 (GRCm39) L45Q probably damaging Het
Other mutations in Klb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Klb APN 5 65,529,717 (GRCm39) missense possibly damaging 0.90
IGL00821:Klb APN 5 65,529,492 (GRCm39) missense probably damaging 1.00
IGL01637:Klb APN 5 65,533,022 (GRCm39) critical splice acceptor site probably null
IGL02098:Klb APN 5 65,537,228 (GRCm39) missense probably benign 0.21
IGL03113:Klb APN 5 65,540,813 (GRCm39) missense probably benign 0.00
1mM(1):Klb UTSW 5 65,505,993 (GRCm39) missense probably damaging 1.00
P0016:Klb UTSW 5 65,537,266 (GRCm39) nonsense probably null
R0268:Klb UTSW 5 65,506,180 (GRCm39) missense probably benign 0.02
R0383:Klb UTSW 5 65,529,842 (GRCm39) splice site probably null
R0676:Klb UTSW 5 65,536,398 (GRCm39) missense probably damaging 1.00
R0735:Klb UTSW 5 65,537,070 (GRCm39) missense probably benign
R0972:Klb UTSW 5 65,506,089 (GRCm39) missense possibly damaging 0.70
R1051:Klb UTSW 5 65,536,670 (GRCm39) missense probably damaging 1.00
R1168:Klb UTSW 5 65,536,317 (GRCm39) missense probably damaging 1.00
R1372:Klb UTSW 5 65,506,089 (GRCm39) missense possibly damaging 0.70
R1403:Klb UTSW 5 65,506,089 (GRCm39) missense possibly damaging 0.70
R1403:Klb UTSW 5 65,506,089 (GRCm39) missense possibly damaging 0.70
R1446:Klb UTSW 5 65,506,338 (GRCm39) missense probably damaging 1.00
R1696:Klb UTSW 5 65,506,089 (GRCm39) missense possibly damaging 0.70
R1743:Klb UTSW 5 65,533,204 (GRCm39) missense probably damaging 0.99
R1801:Klb UTSW 5 65,506,578 (GRCm39) missense probably null 0.90
R1804:Klb UTSW 5 65,537,196 (GRCm39) missense probably damaging 1.00
R1848:Klb UTSW 5 65,506,180 (GRCm39) missense probably benign 0.02
R1967:Klb UTSW 5 65,529,417 (GRCm39) missense probably damaging 0.98
R3420:Klb UTSW 5 65,529,485 (GRCm39) missense probably damaging 1.00
R4397:Klb UTSW 5 65,537,382 (GRCm39) missense probably damaging 1.00
R4490:Klb UTSW 5 65,533,137 (GRCm39) missense probably benign 0.02
R4491:Klb UTSW 5 65,533,137 (GRCm39) missense probably benign 0.02
R4547:Klb UTSW 5 65,537,271 (GRCm39) missense probably benign 0.00
R4878:Klb UTSW 5 65,505,833 (GRCm39) missense probably damaging 0.99
R5269:Klb UTSW 5 65,506,140 (GRCm39) missense probably damaging 1.00
R5418:Klb UTSW 5 65,540,813 (GRCm39) missense probably benign 0.00
R5453:Klb UTSW 5 65,540,728 (GRCm39) missense probably benign 0.08
R5541:Klb UTSW 5 65,536,577 (GRCm39) missense probably benign 0.27
R5672:Klb UTSW 5 65,537,292 (GRCm39) missense possibly damaging 0.82
R5841:Klb UTSW 5 65,536,667 (GRCm39) nonsense probably null
R6088:Klb UTSW 5 65,506,356 (GRCm39) missense probably benign 0.07
R6807:Klb UTSW 5 65,536,877 (GRCm39) missense probably damaging 1.00
R6955:Klb UTSW 5 65,536,431 (GRCm39) nonsense probably null
R7068:Klb UTSW 5 65,536,683 (GRCm39) missense probably damaging 1.00
R7284:Klb UTSW 5 65,540,821 (GRCm39) missense probably benign 0.01
R7322:Klb UTSW 5 65,540,707 (GRCm39) missense probably benign 0.44
R7346:Klb UTSW 5 65,505,974 (GRCm39) nonsense probably null
R7366:Klb UTSW 5 65,529,774 (GRCm39) missense probably damaging 1.00
R8134:Klb UTSW 5 65,540,958 (GRCm39) missense probably benign 0.00
R8243:Klb UTSW 5 65,536,338 (GRCm39) missense possibly damaging 0.65
R8409:Klb UTSW 5 65,536,878 (GRCm39) missense probably damaging 0.96
R8971:Klb UTSW 5 65,533,026 (GRCm39) missense probably damaging 1.00
R9193:Klb UTSW 5 65,529,368 (GRCm39) missense possibly damaging 0.63
R9305:Klb UTSW 5 65,505,988 (GRCm39) nonsense probably null
R9390:Klb UTSW 5 65,533,044 (GRCm39) missense possibly damaging 0.50
R9531:Klb UTSW 5 65,540,948 (GRCm39) missense
R9768:Klb UTSW 5 65,537,373 (GRCm39) missense probably damaging 1.00
Z1177:Klb UTSW 5 65,506,084 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21