Incidental Mutation 'IGL01637:Klb'
ID 93085
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klb
Ensembl Gene ENSMUSG00000029195
Gene Name klotho beta
Synonyms betaKlotho
Accession Numbers

Genbank: NM_031180.2; Ensembl: ENSMUST00000031096;

MGI:1932466

Essential gene? Probably essential (E-score: 0.909) question?
Stock # IGL01637
Quality Score
Status
Chromosome 5
Chromosomal Location 65348314-65384007 bp(+) (GRCm38)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) G to A at 65375679 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031096] [ENSMUST00000205084]
AlphaFold Q99N32
Predicted Effect probably null
Transcript: ENSMUST00000031096
SMART Domains Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,904,684 (GRCm38) I384N probably damaging Het
Adsl G T 15: 80,948,700 (GRCm38) Q51H probably null Het
Apcdd1 A G 18: 62,937,286 (GRCm38) E208G probably damaging Het
Arrdc4 G A 7: 68,744,832 (GRCm38) R155* probably null Het
Atp9b T C 18: 80,756,455 (GRCm38) E823G probably benign Het
Bmp1 A G 14: 70,492,461 (GRCm38) W468R probably damaging Het
C6 A G 15: 4,759,917 (GRCm38) I281M possibly damaging Het
Ccdc88b T C 19: 6,846,710 (GRCm38) T1392A probably benign Het
Dhx34 G T 7: 16,205,473 (GRCm38) S665Y probably damaging Het
Dock1 A T 7: 135,137,813 (GRCm38) probably null Het
Dpp7 T C 2: 25,354,613 (GRCm38) N252S probably benign Het
Dyrk2 A G 10: 118,860,507 (GRCm38) V282A probably damaging Het
Edrf1 T C 7: 133,650,525 (GRCm38) L401P probably damaging Het
Epc1 A G 18: 6,439,724 (GRCm38) V150A probably benign Het
Fam170a A T 18: 50,281,667 (GRCm38) M127L possibly damaging Het
Fam19a3 C T 3: 104,773,079 (GRCm38) V75M probably damaging Het
Gabrg1 T A 5: 70,777,205 (GRCm38) T277S probably damaging Het
Galntl5 T C 5: 25,189,825 (GRCm38) probably benign Het
Gbp2b A G 3: 142,598,312 (GRCm38) N56S probably damaging Het
Gfm2 T A 13: 97,150,409 (GRCm38) V172E probably damaging Het
Gm10419 T C 5: 108,372,358 (GRCm38) probably benign Het
Gm7293 A G 9: 51,623,606 (GRCm38) noncoding transcript Het
Gstm3 T C 3: 107,967,633 (GRCm38) E101G probably damaging Het
Ifnlr1 T C 4: 135,686,545 (GRCm38) W2R possibly damaging Het
Ighv13-1 A T 12: 114,267,733 (GRCm38) probably benign Het
Ighv7-1 T A 12: 113,896,503 (GRCm38) I90F possibly damaging Het
Itga2b A G 11: 102,455,583 (GRCm38) L1009P probably damaging Het
Kif1a A G 1: 93,039,853 (GRCm38) V1112A possibly damaging Het
Kif5a A T 10: 127,245,368 (GRCm38) D232E possibly damaging Het
Lrriq1 G A 10: 103,215,628 (GRCm38) A421V probably benign Het
Mdga1 G A 17: 29,839,871 (GRCm38) R721C probably damaging Het
Mrpl48 G T 7: 100,550,532 (GRCm38) probably benign Het
Myo18b T A 5: 112,840,629 (GRCm38) R1030S possibly damaging Het
Nf1 T A 11: 79,547,120 (GRCm38) H2101Q probably damaging Het
Nlrp3 C A 11: 59,549,378 (GRCm38) L594I probably damaging Het
Notch2 C T 3: 98,146,060 (GRCm38) T2013I probably damaging Het
Olfr1018 A T 2: 85,822,988 (GRCm38) T6S probably benign Het
Olfr131 G A 17: 38,082,103 (GRCm38) L292F possibly damaging Het
Olfr593 C A 7: 103,212,177 (GRCm38) R95S probably benign Het
Olfr812 A G 10: 129,842,610 (GRCm38) L144P probably benign Het
Olfr845 T C 9: 19,338,964 (GRCm38) F168S probably damaging Het
Panx3 T C 9: 37,664,056 (GRCm38) D170G probably damaging Het
Pclo A G 5: 14,540,034 (GRCm38) S783G unknown Het
Pde3b T A 7: 114,526,901 (GRCm38) L790* probably null Het
Pik3r2 T C 8: 70,772,348 (GRCm38) probably benign Het
Rassf4 A G 6: 116,641,690 (GRCm38) F211L probably damaging Het
Rbl2 C T 8: 91,106,438 (GRCm38) P666S probably benign Het
Rnf123 A G 9: 108,058,238 (GRCm38) F979L probably damaging Het
Rock2 T A 12: 16,965,171 (GRCm38) D788E probably benign Het
Serpina3b A G 12: 104,132,957 (GRCm38) T244A probably benign Het
Setd1b T C 5: 123,148,513 (GRCm38) S541P unknown Het
Slc12a4 T C 8: 105,960,707 (GRCm38) D60G possibly damaging Het
Stac2 T C 11: 98,041,354 (GRCm38) E241G probably benign Het
Tas2r115 A G 6: 132,737,629 (GRCm38) Y120H probably damaging Het
Tmtc2 A T 10: 105,370,085 (GRCm38) F450I probably benign Het
Txnl1 A T 18: 63,674,191 (GRCm38) I198N probably damaging Het
Ubr2 A T 17: 46,956,654 (GRCm38) M1049K probably damaging Het
Ugt2b5 T C 5: 87,139,900 (GRCm38) E136G probably benign Het
Unc13b C T 4: 43,241,066 (GRCm38) T3623I probably damaging Het
Usp13 T A 3: 32,919,064 (GRCm38) S797T probably benign Het
Vmn1r173 A T 7: 23,702,948 (GRCm38) T203S probably damaging Het
Vwf T A 6: 125,645,736 (GRCm38) I1718N probably damaging Het
Zfr A G 15: 12,159,646 (GRCm38) H676R probably benign Het
Other mutations in Klb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Klb APN 5 65,372,374 (GRCm38) missense possibly damaging 0.90
IGL00821:Klb APN 5 65,372,149 (GRCm38) missense probably damaging 1.00
IGL01082:Klb APN 5 65,375,940 (GRCm38) missense possibly damaging 0.71
IGL02098:Klb APN 5 65,379,885 (GRCm38) missense probably benign 0.21
IGL03113:Klb APN 5 65,383,470 (GRCm38) missense probably benign 0.00
1mM(1):Klb UTSW 5 65,348,650 (GRCm38) missense probably damaging 1.00
P0016:Klb UTSW 5 65,379,923 (GRCm38) nonsense probably null
R0268:Klb UTSW 5 65,348,837 (GRCm38) missense probably benign 0.02
R0383:Klb UTSW 5 65,372,499 (GRCm38) splice site probably null
R0676:Klb UTSW 5 65,379,055 (GRCm38) missense probably damaging 1.00
R0735:Klb UTSW 5 65,379,727 (GRCm38) missense probably benign
R0972:Klb UTSW 5 65,348,746 (GRCm38) missense possibly damaging 0.70
R1051:Klb UTSW 5 65,379,327 (GRCm38) missense probably damaging 1.00
R1168:Klb UTSW 5 65,378,974 (GRCm38) missense probably damaging 1.00
R1372:Klb UTSW 5 65,348,746 (GRCm38) missense possibly damaging 0.70
R1403:Klb UTSW 5 65,348,746 (GRCm38) missense possibly damaging 0.70
R1403:Klb UTSW 5 65,348,746 (GRCm38) missense possibly damaging 0.70
R1446:Klb UTSW 5 65,348,995 (GRCm38) missense probably damaging 1.00
R1696:Klb UTSW 5 65,348,746 (GRCm38) missense possibly damaging 0.70
R1743:Klb UTSW 5 65,375,861 (GRCm38) missense probably damaging 0.99
R1801:Klb UTSW 5 65,349,235 (GRCm38) missense probably null 0.90
R1804:Klb UTSW 5 65,379,853 (GRCm38) missense probably damaging 1.00
R1848:Klb UTSW 5 65,348,837 (GRCm38) missense probably benign 0.02
R1967:Klb UTSW 5 65,372,074 (GRCm38) missense probably damaging 0.98
R3420:Klb UTSW 5 65,372,142 (GRCm38) missense probably damaging 1.00
R4397:Klb UTSW 5 65,380,039 (GRCm38) missense probably damaging 1.00
R4490:Klb UTSW 5 65,375,794 (GRCm38) missense probably benign 0.02
R4491:Klb UTSW 5 65,375,794 (GRCm38) missense probably benign 0.02
R4547:Klb UTSW 5 65,379,928 (GRCm38) missense probably benign 0.00
R4878:Klb UTSW 5 65,348,490 (GRCm38) missense probably damaging 0.99
R5269:Klb UTSW 5 65,348,797 (GRCm38) missense probably damaging 1.00
R5418:Klb UTSW 5 65,383,470 (GRCm38) missense probably benign 0.00
R5453:Klb UTSW 5 65,383,385 (GRCm38) missense probably benign 0.08
R5541:Klb UTSW 5 65,379,234 (GRCm38) missense probably benign 0.27
R5672:Klb UTSW 5 65,379,949 (GRCm38) missense possibly damaging 0.82
R5841:Klb UTSW 5 65,379,324 (GRCm38) nonsense probably null
R6088:Klb UTSW 5 65,349,013 (GRCm38) missense probably benign 0.07
R6807:Klb UTSW 5 65,379,534 (GRCm38) missense probably damaging 1.00
R6955:Klb UTSW 5 65,379,088 (GRCm38) nonsense probably null
R7068:Klb UTSW 5 65,379,340 (GRCm38) missense probably damaging 1.00
R7284:Klb UTSW 5 65,383,478 (GRCm38) missense probably benign 0.01
R7322:Klb UTSW 5 65,383,364 (GRCm38) missense probably benign 0.44
R7346:Klb UTSW 5 65,348,631 (GRCm38) nonsense probably null
R7366:Klb UTSW 5 65,372,431 (GRCm38) missense probably damaging 1.00
R8134:Klb UTSW 5 65,383,615 (GRCm38) missense probably benign 0.00
R8243:Klb UTSW 5 65,378,995 (GRCm38) missense possibly damaging 0.65
R8409:Klb UTSW 5 65,379,535 (GRCm38) missense probably damaging 0.96
R8971:Klb UTSW 5 65,375,683 (GRCm38) missense probably damaging 1.00
R9193:Klb UTSW 5 65,372,025 (GRCm38) missense possibly damaging 0.63
R9305:Klb UTSW 5 65,348,645 (GRCm38) nonsense probably null
R9390:Klb UTSW 5 65,375,701 (GRCm38) missense possibly damaging 0.50
R9531:Klb UTSW 5 65,383,605 (GRCm38) missense
R9768:Klb UTSW 5 65,380,030 (GRCm38) missense probably damaging 1.00
Z1177:Klb UTSW 5 65,348,741 (GRCm38) missense probably damaging 1.00
Posted On 2013-12-09