Incidental Mutation 'IGL03113:Klb'
ID 419284
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 # IGL03113
Quality Score
Status
Chromosome 5
Chromosomal Location 65505657-65541350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65540813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 969 (N969D)
Ref Sequence ENSEMBL: ENSMUSP00000031096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031096] [ENSMUST00000057885] [ENSMUST00000118543] [ENSMUST00000127874] [ENSMUST00000205084]
AlphaFold Q99N32
Predicted Effect probably benign
Transcript: ENSMUST00000031096
AA Change: N969D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: N969D

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: ENSMUST00000057885
SMART Domains Protein: ENSMUSP00000109399
Gene: ENSMUSG00000047215

DomainStartEndE-ValueType
Pfam:Ribosomal_L6 12 87 8.1e-18 PFAM
Pfam:Ribosomal_L6 99 178 7.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118543
SMART Domains Protein: ENSMUSP00000113391
Gene: ENSMUSG00000047215

DomainStartEndE-ValueType
Pfam:Ribosomal_L6 12 87 1.1e-19 PFAM
Pfam:Ribosomal_L6 99 165 1.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127874
SMART Domains Protein: ENSMUSP00000115577
Gene: ENSMUSG00000047215

DomainStartEndE-ValueType
Pfam:Ribosomal_L6 12 80 3.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140879
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151917
Predicted Effect probably benign
Transcript: ENSMUST00000205084
SMART Domains Protein: ENSMUSP00000145091
Gene: ENSMUSG00000029195

DomainStartEndE-ValueType
Pfam:Glyco_hydro_1 77 360 8.6e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150815
Predicted Effect probably benign
Transcript: ENSMUST00000196667
Meta Mutation Damage Score 0.0582 question?
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apof G A 10: 128,105,568 (GRCm39) V241M probably benign Het
Arhgef10 T A 8: 15,004,505 (GRCm39) I91N probably damaging Het
Arhgef17 G A 7: 100,578,938 (GRCm39) T670I probably benign Het
Barhl1 T C 2: 28,805,468 (GRCm39) D75G probably benign Het
Capn13 T C 17: 73,638,108 (GRCm39) T432A probably benign Het
Casd1 T A 6: 4,640,951 (GRCm39) Y691N probably damaging Het
Ccdc175 C A 12: 72,191,557 (GRCm39) V340L probably benign Het
Cdc5l A T 17: 45,744,348 (GRCm39) M5K possibly damaging Het
Cgn A G 3: 94,686,544 (GRCm39) F253L probably benign Het
Csmd1 T C 8: 16,078,712 (GRCm39) K2003R probably benign Het
Disp2 T A 2: 118,621,259 (GRCm39) probably null Het
Dnah7a T C 1: 53,472,163 (GRCm39) N3535D possibly damaging Het
Exoc3 G A 13: 74,341,232 (GRCm39) Q191* probably null Het
Fstl5 T A 3: 76,337,099 (GRCm39) Y219* probably null Het
Gad2 T A 2: 22,571,367 (GRCm39) L435Q probably benign Het
Gcnt3 A G 9: 69,941,983 (GRCm39) V195A probably damaging Het
Haus6 G A 4: 86,501,343 (GRCm39) Q843* probably null Het
Hivep2 T A 10: 14,006,395 (GRCm39) F998I probably damaging Het
Hsf5 A T 11: 87,548,190 (GRCm39) E624D probably benign Het
Klhl6 T A 16: 19,776,001 (GRCm39) S186C possibly damaging Het
Klk15 T C 7: 43,587,805 (GRCm39) F78L probably benign Het
Ldlr A G 9: 21,651,124 (GRCm39) E514G possibly damaging Het
Map9 T A 3: 82,267,285 (GRCm39) probably benign Het
Miga2 A T 2: 30,274,022 (GRCm39) I99F possibly damaging Het
Morc4 T C X: 138,758,605 (GRCm39) E189G probably benign Het
Nhlrc3 A T 3: 53,365,984 (GRCm39) Y170N possibly damaging Het
Or3a1b G A 11: 74,012,529 (GRCm39) R138Q probably benign Het
Or4c111 A G 2: 88,844,379 (GRCm39) F10L probably damaging Het
Or51b6b A T 7: 103,309,851 (GRCm39) V202D possibly damaging Het
Or52u1 A T 7: 104,237,940 (GRCm39) R310W probably benign Het
Or5o1 T A X: 48,815,939 (GRCm39) N291Y probably damaging Het
Or5w15 T C 2: 87,568,506 (GRCm39) Q54R probably benign Het
Or8g32 A C 9: 39,305,981 (GRCm39) K295T probably damaging Het
Pkd1l1 G A 11: 8,784,793 (GRCm39) T1997I probably benign Het
Poln A G 5: 34,274,206 (GRCm39) S377P probably benign Het
Rab22a T A 2: 173,503,265 (GRCm39) V26E probably damaging Het
Rhbdl3 T C 11: 80,244,439 (GRCm39) V382A possibly damaging Het
Slitrk3 G T 3: 72,957,723 (GRCm39) Q350K probably benign Het
Sult1d1 A T 5: 87,707,738 (GRCm39) Y127* probably null Het
Vmn1r73 A T 7: 11,490,527 (GRCm39) Y115F probably benign Het
Zfp128 T A 7: 12,624,314 (GRCm39) D227E probably benign 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
IGL01082:Klb APN 5 65,533,283 (GRCm39) missense possibly damaging 0.71
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
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 2016-08-02