Incidental Mutation 'IGL02098:Klb'
ID279680
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 essential (E-score: 0.561) question?
Stock #IGL02098
Quality Score
Status
Chromosome5
Chromosomal Location65348314-65384007 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 65379885 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 853 (R853S)
Ref Sequence ENSEMBL: ENSMUSP00000031096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031096] [ENSMUST00000205084]
Predicted Effect probably benign
Transcript: ENSMUST00000031096
AA Change: R853S

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: R853S

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 C T 8: 40,755,643 P649S probably benign Het
Ano3 T A 2: 110,666,441 R788* probably null Het
Ccdc18 A G 5: 108,202,111 E1043G probably damaging Het
Chd3 A T 11: 69,359,829 H691Q probably damaging Het
Cts7 G T 13: 61,356,529 F73L probably damaging Het
Cyp2c66 A G 19: 39,171,029 Y308C probably damaging Het
Eef1a2 G T 2: 181,152,789 P206T probably benign Het
Gcsh G T 8: 116,989,136 S69R probably damaging Het
Gm13023 T A 4: 143,793,678 probably null Het
Gm9989 T A 3: 81,922,221 noncoding transcript Het
Igkv6-25 C T 6: 70,215,735 T42I probably damaging Het
Iqca T C 1: 90,047,941 Y684C probably damaging Het
Kif6 G A 17: 49,870,894 G602D probably benign Het
Mad1l1 A C 5: 140,310,589 probably benign Het
Magi1 T C 6: 93,678,787 N1077D probably damaging Het
Med12l T A 3: 59,275,855 S1858T possibly damaging Het
Ncapg2 A G 12: 116,444,332 E984G possibly damaging Het
Necab1 T A 4: 14,955,892 probably benign Het
Nexn G A 3: 152,243,903 R253* probably null Het
Npc1l1 A G 11: 6,214,581 L1156P probably damaging Het
Olfr1385 T A 11: 49,495,397 I288N probably damaging Het
Olfr1451 A G 19: 12,999,573 I196V probably benign Het
Olfr146 A G 9: 39,018,891 S217P probably damaging Het
Olfr194 A T 16: 59,120,070 probably benign Het
Rassf7 T C 7: 141,218,290 S381P possibly damaging Het
Rdh7 G T 10: 127,884,738 T255K probably benign Het
Scn10a T A 9: 119,691,478 I119F possibly damaging Het
Slc15a3 T A 19: 10,848,678 F244L probably damaging Het
Syde1 T C 10: 78,589,371 S269G probably damaging Het
Teddm2 C T 1: 153,850,335 probably benign Het
Tenm3 T C 8: 48,276,576 D1465G possibly damaging Het
Zkscan2 A T 7: 123,499,841 S43T probably benign Het
Other mutations in Klb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Klb APN 5 65372374 missense possibly damaging 0.90
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
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 On2015-04-16