Incidental Mutation 'R7068:Klb'
ID 548676
Institutional Source Beutler Lab
Gene Symbol Klb
Ensembl Gene ENSMUSG00000029195
Gene Name klotho beta
Synonyms betaKlotho
MMRRC Submission 045164-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R7068 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 65505657-65541350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65536683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 671 (Y671F)
Ref Sequence ENSEMBL: ENSMUSP00000031096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031096] [ENSMUST00000205084]
AlphaFold Q99N32
Predicted Effect probably damaging
Transcript: ENSMUST00000031096
AA Change: Y671F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: Y671F

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 A G 7: 119,221,803 (GRCm39) H24R probably benign Het
Ago2 A T 15: 73,018,299 (GRCm39) F46L probably damaging Het
Amd1 A G 10: 40,166,508 (GRCm39) F123L probably benign Het
Arhgef10 T C 8: 15,008,639 (GRCm39) F546L probably damaging Het
Asic2 G A 11: 81,043,081 (GRCm39) H71Y probably benign Het
Asphd1 A G 7: 126,547,850 (GRCm39) V151A probably benign Het
Best3 T C 10: 116,824,543 (GRCm39) V3A probably damaging Het
C4b A G 17: 34,952,451 (GRCm39) L1196P probably damaging Het
Cd22 A G 7: 30,577,504 (GRCm39) V3A probably benign Het
Cdkl3 T C 11: 51,902,154 (GRCm39) probably null Het
Clcnka A T 4: 141,114,421 (GRCm39) V631E probably damaging Het
Cmya5 A G 13: 93,229,205 (GRCm39) V1961A possibly damaging Het
Dnah14 A G 1: 181,597,355 (GRCm39) E3559G probably benign Het
Emsy A T 7: 98,259,968 (GRCm39) D39E probably benign Het
Fbxl16 G T 17: 26,038,485 (GRCm39) V477F possibly damaging Het
Flt1 A T 5: 147,610,444 (GRCm39) I393N probably damaging Het
Gabra4 A T 5: 71,729,402 (GRCm39) N433K probably benign Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Ghsr T A 3: 27,425,986 (GRCm39) V14D probably benign Het
Glb1l A G 1: 75,179,381 (GRCm39) Y183H probably damaging Het
Hycc1 A G 5: 24,169,793 (GRCm39) S519P possibly damaging Het
Ighv3-4 T C 12: 114,217,274 (GRCm39) T106A probably damaging Het
Ik T G 18: 36,888,518 (GRCm39) F439V possibly damaging Het
Itih5 T C 2: 10,254,115 (GRCm39) S789P probably damaging Het
Kcnj8 T C 6: 142,511,965 (GRCm39) D214G probably damaging Het
Kdm5a C A 6: 120,407,176 (GRCm39) H1464N probably benign Het
Kremen2 C A 17: 23,960,859 (GRCm39) R421L possibly damaging Het
Mroh9 T A 1: 162,866,750 (GRCm39) D662V probably damaging Het
Mtmr12 T G 15: 12,257,756 (GRCm39) M278R probably null Het
Ndufa8 T C 2: 35,934,447 (GRCm39) M44V possibly damaging Het
Nedd4l A T 18: 65,338,722 (GRCm39) R695S probably damaging Het
Nuf2 G A 1: 169,349,988 (GRCm39) P97S probably damaging Het
Or14c46 A C 7: 85,918,745 (GRCm39) L84R probably damaging Het
Or2ah1 T C 2: 85,653,396 (GRCm39) V27A probably benign Het
Or5ac24 T C 16: 59,165,567 (GRCm39) T166A possibly damaging Het
P4ha2 A G 11: 54,001,820 (GRCm39) T33A probably benign Het
Parp1 A G 1: 180,416,233 (GRCm39) H544R probably damaging Het
Plec A G 15: 76,061,969 (GRCm39) L2678P probably damaging Het
Rad1 T A 15: 10,490,379 (GRCm39) Y85* probably null Het
Sema6d A G 2: 124,499,741 (GRCm39) I309V probably benign Het
Skint2 T C 4: 112,481,548 (GRCm39) V137A probably damaging Het
Slc23a3 T C 1: 75,109,877 (GRCm39) N130S probably benign Het
Slc35f1 T C 10: 52,938,596 (GRCm39) F176S probably damaging Het
Slc44a2 T A 9: 21,232,144 (GRCm39) Y10N probably benign Het
Smarcc1 A G 9: 110,014,952 (GRCm39) T506A probably damaging Het
Smchd1 A T 17: 71,694,087 (GRCm39) S1219R probably benign Het
Smco1 A G 16: 32,092,929 (GRCm39) N200S probably benign Het
Srcap A G 7: 127,141,115 (GRCm39) T1571A probably benign Het
Strip2 C T 6: 29,932,207 (GRCm39) T459I probably benign Het
Tarbp1 C T 8: 127,153,773 (GRCm39) A1560T probably damaging Het
Tcl1b1 T A 12: 105,125,952 (GRCm39) probably benign Het
Tdrd5 T C 1: 156,111,841 (GRCm39) E436G probably damaging Het
Trim31 T A 17: 37,209,408 (GRCm39) C55S probably damaging Het
Tsr1 G T 11: 74,794,745 (GRCm39) E467* probably null Het
Tulp4 T A 17: 6,235,564 (GRCm39) D178E probably damaging Het
Vmn1r30 A G 6: 58,411,995 (GRCm39) V279A possibly damaging Het
Vmn2r98 A G 17: 19,285,575 (GRCm39) R132G 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
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
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
Predicted Primers PCR Primer
(F):5'- GGCAATCTGTCCAAAGTTAACAG -3'
(R):5'- TGTAAGGACAGCGACACAGC -3'

Sequencing Primer
(F):5'- CTGTCCAAAGTTAACAGACAAGTG -3'
(R):5'- ATGCTGGACCGGCCTATACTG -3'
Posted On 2019-05-13