Incidental Mutation 'R6088:Klb'
ID 486086
Institutional Source Beutler Lab
Gene Symbol Klb
Ensembl Gene ENSMUSG00000029195
Gene Name klotho beta
Synonyms betaKlotho
MMRRC Submission 044245-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R6088 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 65505657-65541350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 65506356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 201 (T201M)
Ref Sequence ENSEMBL: ENSMUSP00000145091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031096] [ENSMUST00000205084]
AlphaFold Q99N32
Predicted Effect probably benign
Transcript: ENSMUST00000031096
AA Change: T201M

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: T201M

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 noncoding transcript
Transcript: ENSMUST00000203333
Predicted Effect probably benign
Transcript: ENSMUST00000205084
AA Change: T201M

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000145091
Gene: ENSMUSG00000029195
AA Change: T201M

DomainStartEndE-ValueType
Pfam:Glyco_hydro_1 77 360 8.6e-94 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency 98% (59/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 G T 18: 59,035,174 (GRCm39) V360F probably damaging Het
Ankrd17 C T 5: 90,401,547 (GRCm39) E1605K possibly damaging Het
Arid4a A G 12: 71,069,010 (GRCm39) D54G probably damaging Het
Baz2a TCTCCTC TCTC 10: 127,950,511 (GRCm39) probably benign Het
Bltp3a G A 17: 28,103,579 (GRCm39) probably null Het
Card6 A T 15: 5,134,501 (GRCm39) V234E possibly damaging Het
Cd1d1 G T 3: 86,906,009 (GRCm39) Q89K probably benign Het
Ciita G A 16: 10,329,795 (GRCm39) R693K probably damaging Het
Cox7a2l G T 17: 83,811,401 (GRCm39) L77I probably benign Het
Crybg2 A T 4: 133,803,101 (GRCm39) probably null Het
Cts8 T C 13: 61,401,780 (GRCm39) N39S probably benign Het
Def8 G T 8: 124,186,787 (GRCm39) E456* probably null Het
Dld A G 12: 31,390,988 (GRCm39) F153L probably benign Het
Elf1 C T 14: 79,804,701 (GRCm39) T122I probably benign Het
Emilin2 T C 17: 71,562,119 (GRCm39) N961S probably benign Het
Esp24 A G 17: 39,350,901 (GRCm39) I34V probably benign Het
Fam184b C A 5: 45,741,354 (GRCm39) K292N probably damaging Het
Gabrg3 T A 7: 56,634,826 (GRCm39) N119I probably damaging Het
Gucy1b1 T C 3: 81,942,187 (GRCm39) H524R probably damaging Het
Kcp A T 6: 29,502,631 (GRCm39) S205T probably benign Het
Lamp3 A T 16: 19,492,148 (GRCm39) F365L probably damaging Het
Mad1l1 T A 5: 140,179,718 (GRCm39) H390L probably benign Het
Mlxipl T C 5: 135,162,884 (GRCm39) Y711H possibly damaging Het
Myo5b T A 18: 74,853,969 (GRCm39) L1196Q possibly damaging Het
Ndufb8 A G 19: 44,543,464 (GRCm39) S70P probably benign Het
Neb T C 2: 52,099,354 (GRCm39) D4832G probably damaging Het
Niban2 T C 2: 32,813,135 (GRCm39) V540A probably damaging Het
Nr5a1 T C 2: 38,592,007 (GRCm39) D322G probably benign Het
Or1e1d-ps1 A T 11: 73,819,649 (GRCm39) T273S probably benign Het
Or5ak20 T A 2: 85,183,698 (GRCm39) S191C probably damaging Het
Oscar G A 7: 3,614,311 (GRCm39) P143S probably benign Het
Oxa1l T A 14: 54,605,151 (GRCm39) probably null Het
Pafah2 A G 4: 134,140,692 (GRCm39) I221V probably benign Het
Pibf1 T A 14: 99,416,794 (GRCm39) F456I probably benign Het
Pla2g4d C T 2: 120,100,487 (GRCm39) G615D probably damaging Het
Plekhg2 C T 7: 28,060,438 (GRCm39) V964I probably benign Het
Ppip5k1 C A 2: 121,167,944 (GRCm39) V770L probably benign Het
Ppl A T 16: 4,922,852 (GRCm39) L213Q possibly damaging Het
Ptprf G A 4: 118,067,952 (GRCm39) T1785I possibly damaging Het
Pycr2 G A 1: 180,733,801 (GRCm39) G131E probably damaging Het
Rbpj C T 5: 53,808,710 (GRCm39) probably null Het
Rcc1 G T 4: 132,060,153 (GRCm39) D430E probably benign Het
Rhbdf1 A G 11: 32,162,007 (GRCm39) V525A possibly damaging Het
Samd7 G A 3: 30,810,632 (GRCm39) M216I probably benign Het
Ska3 A T 14: 58,054,151 (GRCm39) D266E probably benign Het
Slc1a7 G A 4: 107,869,641 (GRCm39) V569M probably damaging Het
Slc26a1 C T 5: 108,821,872 (GRCm39) E6K possibly damaging Het
Slc4a4 T A 5: 89,345,563 (GRCm39) V741E probably benign Het
St6galnac3 C T 3: 152,912,352 (GRCm39) G164S probably damaging Het
Tgs1 T A 4: 3,595,383 (GRCm39) N517K probably benign Het
Tns4 A G 11: 98,964,546 (GRCm39) S522P probably damaging Het
Trpm1 A T 7: 63,917,724 (GRCm39) M355L probably damaging Het
Trpm8 G A 1: 88,234,400 (GRCm39) probably benign Het
V1ra8 T C 6: 90,180,082 (GRCm39) F95S probably damaging Het
Zfp521 A C 18: 13,979,166 (GRCm39) S416A possibly damaging Het
Zfp574 T A 7: 24,779,764 (GRCm39) V262E probably benign Het
Zfp740 T A 15: 102,117,243 (GRCm39) I77N probably damaging Het
Zscan18 A T 7: 12,509,125 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- AGATCCACTGACAGTTACATCTTTC -3'
(R):5'- TCTCCTGGTGCATGCATACC -3'

Sequencing Primer
(F):5'- CTGGAAAAAGACTTGTTGGCTC -3'
(R):5'- CTGGTGCATGCATACCTGTGC -3'
Posted On 2017-08-16