Incidental Mutation 'R1446:Klb'
ID 158858
Institutional Source Beutler Lab
Gene Symbol Klb
Ensembl Gene ENSMUSG00000029195
Gene Name klotho beta
Synonyms betaKlotho
MMRRC Submission 039501-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R1446 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 65505657-65541350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65506338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 195 (H195L)
Ref Sequence ENSEMBL: ENSMUSP00000145091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031096] [ENSMUST00000205084]
AlphaFold Q99N32
Predicted Effect probably damaging
Transcript: ENSMUST00000031096
AA Change: H195L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: H195L

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 damaging
Transcript: ENSMUST00000205084
AA Change: H195L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145091
Gene: ENSMUSG00000029195
AA Change: H195L

DomainStartEndE-ValueType
Pfam:Glyco_hydro_1 77 360 8.6e-94 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.6%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C T 5: 77,034,136 (GRCm39) A472T probably benign Het
Adcy4 A T 14: 56,007,480 (GRCm39) probably null Het
Ahcyl2 T C 6: 29,891,239 (GRCm39) S448P probably damaging Het
Anks1b A G 10: 90,346,935 (GRCm39) Y745C probably benign Het
Anxa1 A T 19: 20,351,103 (GRCm39) L339Q probably damaging Het
Apoa4 A G 9: 46,153,591 (GRCm39) D64G probably benign Het
Arpc1a A G 5: 145,037,896 (GRCm39) probably null Het
Bank1 C T 3: 135,769,904 (GRCm39) G727R probably damaging Het
Best2 T C 8: 85,734,593 (GRCm39) Q375R probably benign Het
Cacna1b T A 2: 24,596,189 (GRCm39) M501L probably benign Het
Col27a1 T A 4: 63,143,040 (GRCm39) Y243N probably damaging Het
Cyp11a1 A T 9: 57,922,560 (GRCm39) Q80L possibly damaging Het
Dnah10 T A 5: 124,866,860 (GRCm39) W2260R probably damaging Het
Dnajc19 T C 3: 34,112,128 (GRCm39) H139R probably benign Het
Dppa5a T A 9: 78,275,071 (GRCm39) N77I probably benign Het
Edc4 T C 8: 106,614,764 (GRCm39) S125P probably damaging Het
Eid2 T C 7: 27,968,014 (GRCm39) I212T possibly damaging Het
Fam234b T A 6: 135,186,328 (GRCm39) probably null Het
Frem2 T C 3: 53,562,017 (GRCm39) E830G probably benign Het
Fyb1 A T 15: 6,681,947 (GRCm39) I765L probably benign Het
Fyn T G 10: 39,398,775 (GRCm39) S124A probably benign Het
Gal3st3 T A 19: 5,356,939 (GRCm39) F105I probably damaging Het
Gpr146 A G 5: 139,379,177 (GRCm39) I326M probably benign Het
Grk2 G A 19: 4,337,437 (GRCm39) R617C possibly damaging Het
Gsn A G 2: 35,196,598 (GRCm39) K669R probably benign Het
H2-T10 A T 17: 36,430,266 (GRCm39) I225N possibly damaging Het
Il12rb2 T C 6: 67,286,127 (GRCm39) H106R probably benign Het
Kat14 A G 2: 144,215,638 (GRCm39) E41G probably damaging Het
Kcnma1 G T 14: 23,361,792 (GRCm39) T1006K probably damaging Het
Kif18b G A 11: 102,805,525 (GRCm39) T244I probably damaging Het
Lrriq4 T C 3: 30,704,727 (GRCm39) F252L probably benign Het
Lum C T 10: 97,404,252 (GRCm39) T49I possibly damaging Het
Map3k4 T A 17: 12,475,681 (GRCm39) L84* probably null Het
Mindy2 A G 9: 70,514,738 (GRCm39) probably null Het
Mpped2 G T 2: 106,614,077 (GRCm39) R137L possibly damaging Het
Myo18b G A 5: 112,905,425 (GRCm39) R2058W probably damaging Het
Nol8 T A 13: 49,808,703 (GRCm39) L65Q probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or4c108 A G 2: 88,804,109 (GRCm39) I42T probably benign Het
Or4x6 A T 2: 89,949,202 (GRCm39) L247M probably damaging Het
Or5b105 G A 19: 13,080,380 (GRCm39) A96V possibly damaging Het
Or5g9 A G 2: 85,551,917 (GRCm39) H56R probably damaging Het
Or8b3 T G 9: 38,314,601 (GRCm39) C144G possibly damaging Het
Or9a4 C T 6: 40,548,833 (GRCm39) S171L probably benign Het
Parp12 G T 6: 39,079,495 (GRCm39) D338E probably benign Het
Pde6d T C 1: 86,474,414 (GRCm39) E77G probably damaging Het
Phkg1 A C 5: 129,902,055 (GRCm39) probably null Het
Pigw A C 11: 84,769,186 (GRCm39) S48A probably benign Het
Pkm T A 9: 59,576,193 (GRCm39) probably null Het
Ppp1r3f G A X: 7,426,602 (GRCm39) T553M probably damaging Het
Retreg2 T A 1: 75,120,103 (GRCm39) F44L possibly damaging Het
Ryr2 A T 13: 11,753,035 (GRCm39) M1762K probably benign Het
Sec16a A G 2: 26,313,579 (GRCm39) V1927A probably benign Het
Sec23a G T 12: 59,025,345 (GRCm39) A492E probably damaging Het
Skint4 T A 4: 111,975,311 (GRCm39) H82Q probably benign Het
Srbd1 T C 17: 86,446,580 (GRCm39) K60E probably benign Het
Stk24 A G 14: 121,545,456 (GRCm39) Y101H probably damaging Het
Sult1e1 A T 5: 87,726,396 (GRCm39) N239K probably damaging Het
Tgs1 C T 4: 3,604,848 (GRCm39) P757S probably damaging Het
Tmc2 A T 2: 130,090,650 (GRCm39) E665D probably damaging Het
Tmprss15 C A 16: 78,875,846 (GRCm39) D163Y probably benign Het
Unc13a C A 8: 72,101,625 (GRCm39) V1009L possibly damaging Het
Unc45b G T 11: 82,819,496 (GRCm39) G490C probably damaging Het
Vmn1r177 T A 7: 23,565,765 (GRCm39) H37L probably damaging Het
Vwa5a A G 9: 38,645,264 (GRCm39) M450V possibly damaging Het
Wars2 T C 3: 99,094,843 (GRCm39) I46T probably benign Het
Wdfy3 G T 5: 101,999,176 (GRCm39) T3098K possibly damaging Het
Zan A T 5: 137,387,622 (GRCm39) I4863N unknown Het
Zfp616 A G 11: 73,974,064 (GRCm39) probably null Het
Zfp770 A T 2: 114,027,514 (GRCm39) I185N probably damaging Het
Zfp808 T G 13: 62,320,821 (GRCm39) H683Q probably damaging Het
Zmym4 A T 4: 126,776,275 (GRCm39) W1221R probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GTACGTGAGTCCGGTAAACCCAAG -3'
(R):5'- GGTTGTGTCCCACAGTGTAGACAG -3'

Sequencing Primer
(F):5'- CTGGAAAAAGACTTGTTGGCTC -3'
(R):5'- ATGCATACCTGTGCCAAACC -3'
Posted On 2014-03-14