Incidental Mutation 'IGL03149:Kl'
ID 411009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kl
Ensembl Gene ENSMUSG00000058488
Gene Name klotho
Synonyms alpha-kl
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03149
Quality Score
Status
Chromosome 5
Chromosomal Location 150876072-150917282 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 150906200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 523 (C523*)
Ref Sequence ENSEMBL: ENSMUSP00000077899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078856]
AlphaFold O35082
Predicted Effect probably null
Transcript: ENSMUST00000078856
AA Change: C523*
SMART Domains Protein: ENSMUSP00000077899
Gene: ENSMUSG00000058488
AA Change: C523*

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
low complexity region 45 56 N/A INTRINSIC
Pfam:Glyco_hydro_1 59 380 4.3e-99 PFAM
Pfam:Glyco_hydro_1 376 508 7.9e-33 PFAM
Pfam:Glyco_hydro_1 517 955 1e-79 PFAM
transmembrane domain 984 1006 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202096
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have a short lifespan and growth retardation with one allele homeostatic imbalances and soft tissue calcification are also seen. With a second allele abnormal cancellous bone and femur morphology are seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 A G 8: 78,136,167 (GRCm39) probably benign Het
Arhgap42 A G 9: 9,008,085 (GRCm39) I546T possibly damaging Het
Arsj A T 3: 126,233,053 (GRCm39) probably benign Het
Ash2l A G 8: 26,308,650 (GRCm39) V543A probably benign Het
B4galnt3 A G 6: 120,208,555 (GRCm39) probably benign Het
Blvra T A 2: 126,924,871 (GRCm39) V11E probably damaging Het
Calcb T C 7: 114,319,371 (GRCm39) L51P probably damaging Het
Cd36 T A 5: 18,025,563 (GRCm39) K52N probably benign Het
Cebpz T C 17: 79,229,982 (GRCm39) N857S probably benign Het
Ces1b A G 8: 93,791,502 (GRCm39) probably benign Het
Clspn T C 4: 126,470,295 (GRCm39) probably benign Het
Cr2 A T 1: 194,848,674 (GRCm39) L283H probably damaging Het
Ctc1 T C 11: 68,921,987 (GRCm39) V811A possibly damaging Het
Ctsk T C 3: 95,408,730 (GRCm39) S65P possibly damaging Het
Ddx51 A G 5: 110,801,600 (GRCm39) N83D probably benign Het
Eci2 T C 13: 35,172,296 (GRCm39) T146A probably benign Het
Erbin T C 13: 103,977,671 (GRCm39) N629D possibly damaging Het
Etfbkmt A G 6: 149,045,781 (GRCm39) E45G probably damaging Het
Fat4 A G 3: 39,045,834 (GRCm39) N3951S probably damaging Het
Fktn T C 4: 53,744,653 (GRCm39) V311A probably benign Het
Garem1 G T 18: 21,264,523 (GRCm39) P534T probably damaging Het
Gm8237 A G 14: 5,864,451 (GRCm38) I37T probably benign Het
Ikzf5 T C 7: 130,998,494 (GRCm39) K13E probably damaging Het
Klhl7 G A 5: 24,364,687 (GRCm39) V574I probably benign Het
Lyst T C 13: 13,856,029 (GRCm39) V2450A probably benign Het
Map3k6 A T 4: 132,976,999 (GRCm39) I819F probably damaging Het
Mphosph9 T C 5: 124,401,074 (GRCm39) E891G probably damaging Het
Myo7b A G 18: 32,147,355 (GRCm39) S63P probably damaging Het
Ndufaf7 C T 17: 79,252,439 (GRCm39) R283C possibly damaging Het
Nepro G T 16: 44,547,462 (GRCm39) A60S probably damaging Het
Nop56 T C 2: 130,119,445 (GRCm39) S354P probably damaging Het
Nwd2 T A 5: 63,963,338 (GRCm39) L974H probably damaging Het
Or4a80 T C 2: 89,583,172 (GRCm39) probably null Het
Or52ad1 A T 7: 102,996,056 (GRCm39) H26Q probably benign Het
Pacsin3 T A 2: 91,091,852 (GRCm39) probably benign Het
Parp12 C T 6: 39,091,165 (GRCm39) D142N probably benign Het
Pcdh15 G A 10: 74,466,527 (GRCm39) D1449N probably damaging Het
Pcsk7 C T 9: 45,820,778 (GRCm39) T70M probably benign Het
Pld4 T C 12: 112,733,263 (GRCm39) F280L probably benign Het
Ppm1k C A 6: 57,501,759 (GRCm39) A135S probably damaging Het
Prkcq A T 2: 11,237,356 (GRCm39) Y45F probably benign Het
Prom1 T A 5: 44,187,076 (GRCm39) I385F probably damaging Het
Prss12 A G 3: 123,299,036 (GRCm39) N603D probably benign Het
Ptbp2 G T 3: 119,514,074 (GRCm39) T501K possibly damaging Het
Ranbp17 C A 11: 33,193,183 (GRCm39) R957L possibly damaging Het
Rasl10a T C 11: 5,008,429 (GRCm39) Y42H possibly damaging Het
Serpina9 G A 12: 103,974,869 (GRCm39) Q95* probably null Het
Serpinb1b C A 13: 33,269,275 (GRCm39) Q3K possibly damaging Het
Sgo2b T A 8: 64,379,617 (GRCm39) M1072L probably benign Het
Slc1a5 T C 7: 16,523,745 (GRCm39) V250A probably damaging Het
Slc30a6 T C 17: 74,730,018 (GRCm39) S303P probably damaging Het
Tbc1d2 A T 4: 46,637,619 (GRCm39) I209N probably benign Het
Tmc4 T A 7: 3,670,177 (GRCm39) I484L probably benign Het
Ttll5 G A 12: 85,965,758 (GRCm39) E36K probably damaging Het
Unc93b1 A G 19: 3,994,041 (GRCm39) M391V probably benign Het
Xpo5 T A 17: 46,526,740 (GRCm39) probably null Het
Other mutations in Kl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00800:Kl APN 5 150,904,233 (GRCm39) nonsense probably null
IGL00815:Kl APN 5 150,904,315 (GRCm39) missense possibly damaging 0.55
IGL00840:Kl APN 5 150,904,252 (GRCm39) missense possibly damaging 0.90
IGL01347:Kl APN 5 150,904,130 (GRCm39) missense probably damaging 1.00
IGL01642:Kl APN 5 150,904,334 (GRCm39) missense possibly damaging 0.58
IGL01774:Kl APN 5 150,911,948 (GRCm39) missense probably benign 0.00
IGL01937:Kl APN 5 150,912,402 (GRCm39) missense probably damaging 0.99
IGL01945:Kl APN 5 150,912,402 (GRCm39) missense probably damaging 0.99
IGL02510:Kl APN 5 150,912,466 (GRCm39) missense probably damaging 1.00
IGL02696:Kl APN 5 150,904,450 (GRCm39) missense probably benign 0.01
IGL03028:Kl APN 5 150,915,015 (GRCm39) missense probably damaging 1.00
anatolia UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
ararat UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
Turkic UTSW 5 150,876,755 (GRCm39) missense probably damaging 1.00
R0480:Kl UTSW 5 150,876,753 (GRCm39) missense probably damaging 1.00
R0565:Kl UTSW 5 150,904,409 (GRCm39) missense possibly damaging 0.76
R0723:Kl UTSW 5 150,876,566 (GRCm39) missense probably damaging 1.00
R1052:Kl UTSW 5 150,905,985 (GRCm39) missense probably damaging 1.00
R1205:Kl UTSW 5 150,904,153 (GRCm39) missense probably damaging 1.00
R1512:Kl UTSW 5 150,912,062 (GRCm39) missense probably benign 0.00
R1529:Kl UTSW 5 150,912,406 (GRCm39) missense probably benign
R1588:Kl UTSW 5 150,906,097 (GRCm39) missense probably benign 0.20
R1714:Kl UTSW 5 150,876,798 (GRCm39) missense probably benign 0.05
R1748:Kl UTSW 5 150,904,450 (GRCm39) missense possibly damaging 0.87
R1885:Kl UTSW 5 150,876,959 (GRCm39) missense possibly damaging 0.67
R1920:Kl UTSW 5 150,906,132 (GRCm39) missense probably benign 0.15
R2156:Kl UTSW 5 150,912,425 (GRCm39) missense probably benign 0.41
R2926:Kl UTSW 5 150,876,806 (GRCm39) missense probably damaging 1.00
R4837:Kl UTSW 5 150,904,312 (GRCm39) missense possibly damaging 0.90
R5221:Kl UTSW 5 150,912,616 (GRCm39) missense probably damaging 1.00
R5687:Kl UTSW 5 150,911,931 (GRCm39) missense possibly damaging 0.84
R5726:Kl UTSW 5 150,915,003 (GRCm39) missense possibly damaging 0.91
R5727:Kl UTSW 5 150,915,003 (GRCm39) missense possibly damaging 0.91
R5735:Kl UTSW 5 150,915,003 (GRCm39) missense possibly damaging 0.91
R5797:Kl UTSW 5 150,915,003 (GRCm39) missense possibly damaging 0.91
R5933:Kl UTSW 5 150,912,948 (GRCm39) missense probably damaging 1.00
R6075:Kl UTSW 5 150,876,466 (GRCm39) missense probably damaging 1.00
R6076:Kl UTSW 5 150,876,466 (GRCm39) missense probably damaging 1.00
R6077:Kl UTSW 5 150,876,466 (GRCm39) missense probably damaging 1.00
R6149:Kl UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
R6150:Kl UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
R6151:Kl UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
R6158:Kl UTSW 5 150,912,318 (GRCm39) missense possibly damaging 0.69
R6236:Kl UTSW 5 150,876,755 (GRCm39) missense probably damaging 1.00
R6609:Kl UTSW 5 150,912,427 (GRCm39) missense probably benign 0.00
R7489:Kl UTSW 5 150,876,461 (GRCm39) missense probably damaging 1.00
R8406:Kl UTSW 5 150,906,229 (GRCm39) missense probably benign 0.01
R9026:Kl UTSW 5 150,876,491 (GRCm39) missense probably benign 0.23
R9087:Kl UTSW 5 150,911,957 (GRCm39) missense probably benign 0.19
R9380:Kl UTSW 5 150,912,342 (GRCm39) missense possibly damaging 0.50
RF005:Kl UTSW 5 150,876,885 (GRCm39) missense probably benign 0.07
RF024:Kl UTSW 5 150,876,885 (GRCm39) missense probably benign 0.07
X0066:Kl UTSW 5 150,915,080 (GRCm39) nonsense probably null
Posted On 2016-08-02