Incidental Mutation 'R5418:Klb'
ID 427837
Institutional Source Beutler Lab
Gene Symbol Klb
Ensembl Gene ENSMUSG00000029195
Gene Name klotho beta
Synonyms betaKlotho
MMRRC Submission 042986-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R5418 (G1)
Quality Score 225
Status Validated
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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (81/82)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,244,738 (GRCm39) S205P probably damaging Het
Abcc1 T C 16: 14,278,996 (GRCm39) V1102A probably benign Het
Acad8 A T 9: 26,896,853 (GRCm39) M202K probably damaging Het
Acoxl T A 2: 127,719,722 (GRCm39) M161K probably benign Het
Adamts4 T A 1: 171,080,143 (GRCm39) V35E probably damaging Het
Add2 A G 6: 86,087,894 (GRCm39) S614G probably benign Het
Adgrv1 T A 13: 81,567,427 (GRCm39) I5249L probably benign Het
Agps A G 2: 75,689,248 (GRCm39) T252A probably damaging Het
Alms1-ps1 G A 6: 85,732,584 (GRCm39) noncoding transcript Het
Ankrd24 T A 10: 81,480,776 (GRCm39) probably benign Het
Bcl9l A G 9: 44,416,733 (GRCm39) Q218R possibly damaging Het
Bin2 T C 15: 100,547,027 (GRCm39) Y232C probably damaging Het
Bptf A G 11: 107,002,120 (GRCm39) Y331H probably damaging Het
Ccr10 C T 11: 101,064,904 (GRCm39) V209M probably benign Het
Cflar A T 1: 58,791,810 (GRCm39) D371V possibly damaging Het
Col1a2 A G 6: 4,516,931 (GRCm39) probably benign Het
Crlf2 A G 5: 109,704,899 (GRCm39) V104A probably benign Het
Dennd1c CCGCCCCTCGCTGACAGC CC 17: 57,373,755 (GRCm39) probably null Het
Dmxl2 A G 9: 54,281,935 (GRCm39) probably null Het
Dnah17 C A 11: 117,985,810 (GRCm39) E1422D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Efcab11 A G 12: 99,821,877 (GRCm39) L80S possibly damaging Het
Emc8 G A 8: 121,385,342 (GRCm39) T130M probably damaging Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
Erc2 A G 14: 27,688,467 (GRCm39) M196V probably benign Het
Etnk2 T C 1: 133,300,995 (GRCm39) I254T probably damaging Het
Fam120b C T 17: 15,622,061 (GRCm39) T13M probably damaging Het
Fam234b A G 6: 135,203,966 (GRCm39) K423E probably benign Het
Fcgbp G A 7: 27,784,738 (GRCm39) G266D probably damaging Het
Fndc4 A T 5: 31,451,978 (GRCm39) S146R probably benign Het
Frmd3 G A 4: 74,079,935 (GRCm39) probably null Het
Glrx2 C A 1: 143,615,446 (GRCm39) S16R possibly damaging Het
Gm26526 T G 7: 39,238,358 (GRCm39) noncoding transcript Het
Hc C T 2: 34,898,195 (GRCm39) probably null Het
Herc2 T C 7: 55,787,313 (GRCm39) C1695R probably damaging Het
Hic1 A G 11: 75,057,425 (GRCm39) probably null Het
Igkv4-92 A T 6: 68,732,564 (GRCm39) V5E possibly damaging Het
Irs1 G A 1: 82,266,491 (GRCm39) T575I probably damaging Het
Kcp A T 6: 29,504,283 (GRCm39) Y143* probably null Het
Klra6 T A 6: 129,990,393 (GRCm39) L239F probably damaging Het
Lhx6 A G 2: 35,977,378 (GRCm39) probably null Het
Lrrc34 G A 3: 30,696,923 (GRCm39) P116S possibly damaging Het
Map3k9 T A 12: 81,790,591 (GRCm39) K321* probably null Het
Mapk14 T C 17: 28,960,817 (GRCm39) V196A possibly damaging Het
Matcap2 G T 9: 22,343,066 (GRCm39) R187L probably damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mtmr12 T C 15: 12,270,045 (GRCm39) L711P probably damaging Het
Mylk T C 16: 34,732,600 (GRCm39) S627P probably benign Het
Nbea A T 3: 55,553,410 (GRCm39) Y2631N possibly damaging Het
Ncoa7 A G 10: 30,524,035 (GRCm39) V153A probably damaging Het
Or4a79 T C 2: 89,552,343 (GRCm39) I37M probably benign Het
Pax6 A T 2: 105,521,910 (GRCm39) D175V probably benign Het
Piezo1 A G 8: 123,213,519 (GRCm39) L1793P probably damaging Het
Pkp4 T C 2: 59,140,506 (GRCm39) V404A probably benign Het
Plxnb2 A G 15: 89,050,694 (GRCm39) Y421H probably benign Het
Prkdc T G 16: 15,612,961 (GRCm39) V3173G probably benign Het
Prss40 A T 1: 34,599,840 (GRCm39) I49N probably benign Het
Prx T A 7: 27,216,699 (GRCm39) V400E probably damaging Het
Rbm11 A C 16: 75,393,423 (GRCm39) T40P probably damaging Het
Resf1 T C 6: 149,227,634 (GRCm39) Y227H probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sema3f A G 9: 107,569,820 (GRCm39) Y70H probably damaging Het
Senp6 G A 9: 80,029,151 (GRCm39) E505K possibly damaging Het
Slc25a3 T C 10: 90,955,398 (GRCm39) I147M probably benign Het
Slc4a7 T A 14: 14,760,280 (GRCm38) S572T probably benign Het
Smarcal1 C T 1: 72,638,068 (GRCm39) P501S probably benign Het
Sox7 C T 14: 64,185,396 (GRCm39) T144M probably benign Het
Taar1 T C 10: 23,797,214 (GRCm39) F304S possibly damaging Het
Tcf3 A G 10: 80,263,517 (GRCm39) F46L probably damaging Het
Tmem184c A G 8: 78,324,449 (GRCm39) V347A probably damaging Het
Tpcn2 C T 7: 144,832,518 (GRCm39) E113K probably damaging Het
Vmn1r232 T A 17: 21,134,378 (GRCm39) Y74F possibly damaging Het
Vmn2r102 C T 17: 19,914,415 (GRCm39) T660I probably damaging Het
Zdhhc3 A G 9: 122,909,456 (GRCm39) M234T probably damaging Het
Zfp960 T A 17: 17,307,805 (GRCm39) L173H 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
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
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'- ATCCATTTGTGATCAACAGTGTTTC -3'
(R):5'- GCTGTGGCCTTTCTTCAATG -3'

Sequencing Primer
(F):5'- GATCAACAGTGTTTCTTTCTTTCAG -3'
(R):5'- AAGTTCCTTGCTTTCTGGAATTTTC -3'
Posted On 2016-09-01