Incidental Mutation 'IGL02510:Kl'
ID 296510
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 # IGL02510
Quality Score
Status
Chromosome 5
Chromosomal Location 150876072-150917282 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 150912466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 738 (E738D)
Ref Sequence ENSEMBL: ENSMUSP00000077899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078856]
AlphaFold O35082
Predicted Effect probably damaging
Transcript: ENSMUST00000078856
AA Change: E738D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077899
Gene: ENSMUSG00000058488
AA Change: E738D

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 G A 1: 171,078,959 (GRCm39) S193N probably benign Het
Arrdc1 C A 2: 24,825,112 (GRCm39) V16F probably damaging Het
Bhmt1b A G 18: 87,775,653 (GRCm39) Q392R probably benign Het
Bsx A T 9: 40,785,517 (GRCm39) Q15L possibly damaging Het
Casp8ap2 A G 4: 32,639,704 (GRCm39) T253A probably benign Het
Cdkl3 T C 11: 51,902,097 (GRCm39) L102P probably damaging Het
Cgnl1 G T 9: 71,632,639 (GRCm39) N237K probably benign Het
Cldn14 T A 16: 93,716,844 (GRCm39) M1L probably damaging Het
Col1a2 C T 6: 4,516,398 (GRCm39) R171C unknown Het
Col7a1 C A 9: 108,802,299 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dhrs2 G A 14: 55,473,532 (GRCm39) V64M probably damaging Het
Disp3 G A 4: 148,337,158 (GRCm39) H886Y probably benign Het
Dst G A 1: 34,268,332 (GRCm39) probably null Het
Fnbp4 T C 2: 90,581,819 (GRCm39) V215A probably benign Het
Fzd9 A G 5: 135,278,469 (GRCm39) L472P probably damaging Het
Hpd C T 5: 123,319,973 (GRCm39) R15Q possibly damaging Het
Htra2 A G 6: 83,028,592 (GRCm39) V412A probably damaging Het
Ift80 A G 3: 68,805,876 (GRCm39) F722S probably benign Het
Kcnq2 T C 2: 180,723,154 (GRCm39) T741A probably benign Het
Klra4 T A 6: 130,036,506 (GRCm39) I178L probably damaging Het
Klra9 T C 6: 130,168,185 (GRCm39) E27G probably benign Het
Kntc1 T C 5: 123,957,125 (GRCm39) Y2145H probably benign Het
Mbd5 T A 2: 49,147,041 (GRCm39) M417K probably benign Het
Med31 C T 11: 72,102,882 (GRCm39) M75I probably benign Het
Mpeg1 A T 19: 12,438,788 (GRCm39) D82V probably damaging Het
Msto1 A G 3: 88,817,652 (GRCm39) Y439H probably damaging Het
Or1e17 G A 11: 73,831,831 (GRCm39) G253E probably damaging Het
Or1j15 T C 2: 36,458,693 (GRCm39) S28P possibly damaging Het
Or2av9 T C 11: 58,381,365 (GRCm39) Y72C probably damaging Het
Or5p64 T A 7: 107,855,348 (GRCm39) probably benign Het
Prtg G A 9: 72,798,151 (GRCm39) V706M probably damaging Het
Sfxn2 G T 19: 46,576,711 (GRCm39) A186S probably benign Het
Slc12a5 A T 2: 164,824,728 (GRCm39) probably benign Het
Slc7a3 T C X: 100,126,439 (GRCm39) E222G probably benign Het
Stox1 A T 10: 62,499,826 (GRCm39) H911Q probably benign Het
Sult3a2 A T 10: 33,642,435 (GRCm39) N289K probably benign Het
Supt20 A G 3: 54,622,945 (GRCm39) probably benign Het
Tchh A G 3: 93,351,385 (GRCm39) E275G unknown Het
Tectb A T 19: 55,179,943 (GRCm39) N263I probably damaging Het
Tsga10 C T 1: 37,800,066 (GRCm39) R608Q possibly damaging Het
Ttyh3 A G 5: 140,615,219 (GRCm39) Y390H probably damaging Het
Utf1 C A 7: 139,523,929 (GRCm39) S48* probably null Het
Zfp358 G A 8: 3,546,786 (GRCm39) G456D probably benign Het
Zup1 A G 10: 33,806,150 (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
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
IGL03149:Kl APN 5 150,906,200 (GRCm39) nonsense probably null
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 2015-04-16