Incidental Mutation 'IGL03149:Kl'
ID411009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kl
Ensembl Gene ENSMUSG00000058488
Gene Nameklotho
Synonymsalpha-kl
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03149
Quality Score
Status
Chromosome5
Chromosomal Location150952607-150993817 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 150982735 bp
ZygosityHeterozygous
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]
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: 77,409,538 probably benign Het
Arhgap42 A G 9: 9,008,084 I546T possibly damaging Het
Arsj A T 3: 126,439,404 probably benign Het
Ash2l A G 8: 25,818,622 V543A probably benign Het
B4galnt3 A G 6: 120,231,594 probably benign Het
Blvra T A 2: 127,082,951 V11E probably damaging Het
Calcb T C 7: 114,720,136 L51P probably damaging Het
Cd36 T A 5: 17,820,565 K52N probably benign Het
Cebpz T C 17: 78,922,553 N857S probably benign Het
Ces1b A G 8: 93,064,874 probably benign Het
Clspn T C 4: 126,576,502 probably benign Het
Cr2 A T 1: 195,166,366 L283H probably damaging Het
Ctc1 T C 11: 69,031,161 V811A possibly damaging Het
Ctsk T C 3: 95,501,419 S65P possibly damaging Het
Ddx51 A G 5: 110,653,734 N83D probably benign Het
Eci2 T C 13: 34,988,313 T146A probably benign Het
Erbin T C 13: 103,841,163 N629D possibly damaging Het
Etfbkmt A G 6: 149,144,283 E45G probably damaging Het
Fat4 A G 3: 38,991,685 N3951S probably damaging Het
Fktn T C 4: 53,744,653 V311A probably benign Het
Garem1 G T 18: 21,131,466 P534T probably damaging Het
Gm8237 A G 14: 5,864,451 I37T probably benign Het
Ikzf5 T C 7: 131,396,765 K13E probably damaging Het
Klhl7 G A 5: 24,159,689 V574I probably benign Het
Lyst T C 13: 13,681,444 V2450A probably benign Het
Map3k6 A T 4: 133,249,688 I819F probably damaging Het
Mphosph9 T C 5: 124,263,011 E891G probably damaging Het
Myo7b A G 18: 32,014,302 S63P probably damaging Het
Ndufaf7 C T 17: 78,945,010 R283C possibly damaging Het
Nepro G T 16: 44,727,099 A60S probably damaging Het
Nop56 T C 2: 130,277,525 S354P probably damaging Het
Nwd2 T A 5: 63,805,995 L974H probably damaging Het
Olfr1253 T C 2: 89,752,828 probably null Het
Olfr600 A T 7: 103,346,849 H26Q probably benign Het
Pacsin3 T A 2: 91,261,507 probably benign Het
Parp12 C T 6: 39,114,231 D142N probably benign Het
Pcdh15 G A 10: 74,630,695 D1449N probably damaging Het
Pcsk7 C T 9: 45,909,480 T70M probably benign Het
Pld4 T C 12: 112,766,829 F280L probably benign Het
Ppm1k C A 6: 57,524,774 A135S probably damaging Het
Prkcq A T 2: 11,232,545 Y45F probably benign Het
Prom1 T A 5: 44,029,734 I385F probably damaging Het
Prss12 A G 3: 123,505,387 N603D probably benign Het
Ptbp2 G T 3: 119,720,425 T501K possibly damaging Het
Ranbp17 C A 11: 33,243,183 R957L possibly damaging Het
Rasl10a T C 11: 5,058,429 Y42H possibly damaging Het
Serpina9 G A 12: 104,008,610 Q95* probably null Het
Serpinb1b C A 13: 33,085,292 Q3K possibly damaging Het
Sgo2b T A 8: 63,926,583 M1072L probably benign Het
Slc1a5 T C 7: 16,789,820 V250A probably damaging Het
Slc30a6 T C 17: 74,423,023 S303P probably damaging Het
Tbc1d2 A T 4: 46,637,619 I209N probably benign Het
Tmc4 T A 7: 3,667,178 I484L probably benign Het
Ttll5 G A 12: 85,918,984 E36K probably damaging Het
Unc93b1 A G 19: 3,944,041 M391V probably benign Het
Xpo5 T A 17: 46,215,814 probably null Het
Other mutations in Kl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00800:Kl APN 5 150980768 nonsense probably null
IGL00815:Kl APN 5 150980850 missense possibly damaging 0.55
IGL00840:Kl APN 5 150980787 missense possibly damaging 0.90
IGL01347:Kl APN 5 150980665 missense probably damaging 1.00
IGL01642:Kl APN 5 150980869 missense possibly damaging 0.58
IGL01774:Kl APN 5 150988483 missense probably benign 0.00
IGL01937:Kl APN 5 150988937 missense probably damaging 0.99
IGL01945:Kl APN 5 150988937 missense probably damaging 0.99
IGL02510:Kl APN 5 150989001 missense probably damaging 1.00
IGL02696:Kl APN 5 150980985 missense probably benign 0.01
IGL03028:Kl APN 5 150991550 missense probably damaging 1.00
anatolia UTSW 5 150988853 missense possibly damaging 0.69
ararat UTSW 5 150988853 missense possibly damaging 0.69
R6236_kl_940 UTSW 5 150953290 missense probably damaging 1.00
R0480:Kl UTSW 5 150953288 missense probably damaging 1.00
R0565:Kl UTSW 5 150980944 missense possibly damaging 0.76
R0723:Kl UTSW 5 150953101 missense probably damaging 1.00
R1052:Kl UTSW 5 150982520 missense probably damaging 1.00
R1205:Kl UTSW 5 150980688 missense probably damaging 1.00
R1512:Kl UTSW 5 150988597 missense probably benign 0.00
R1529:Kl UTSW 5 150988941 missense probably benign
R1588:Kl UTSW 5 150982632 missense probably benign 0.20
R1714:Kl UTSW 5 150953333 missense probably benign 0.05
R1748:Kl UTSW 5 150980985 missense possibly damaging 0.87
R1885:Kl UTSW 5 150953494 missense possibly damaging 0.67
R1920:Kl UTSW 5 150982667 missense probably benign 0.15
R2156:Kl UTSW 5 150988960 missense probably benign 0.41
R2926:Kl UTSW 5 150953341 missense probably damaging 1.00
R4837:Kl UTSW 5 150980847 missense possibly damaging 0.90
R5221:Kl UTSW 5 150989151 missense probably damaging 1.00
R5687:Kl UTSW 5 150988466 missense possibly damaging 0.84
R5726:Kl UTSW 5 150991538 missense possibly damaging 0.91
R5727:Kl UTSW 5 150991538 missense possibly damaging 0.91
R5735:Kl UTSW 5 150991538 missense possibly damaging 0.91
R5797:Kl UTSW 5 150991538 missense possibly damaging 0.91
R5933:Kl UTSW 5 150989483 missense probably damaging 1.00
R6075:Kl UTSW 5 150953001 missense probably damaging 1.00
R6076:Kl UTSW 5 150953001 missense probably damaging 1.00
R6077:Kl UTSW 5 150953001 missense probably damaging 1.00
R6149:Kl UTSW 5 150988853 missense possibly damaging 0.69
R6150:Kl UTSW 5 150988853 missense possibly damaging 0.69
R6151:Kl UTSW 5 150988853 missense possibly damaging 0.69
R6158:Kl UTSW 5 150988853 missense possibly damaging 0.69
R6236:Kl UTSW 5 150953290 missense probably damaging 1.00
R6609:Kl UTSW 5 150988962 missense probably benign 0.00
R7489:Kl UTSW 5 150952996 missense probably damaging 1.00
R8406:Kl UTSW 5 150982764 missense probably benign 0.01
RF005:Kl UTSW 5 150953420 missense probably benign 0.07
RF024:Kl UTSW 5 150953420 missense probably benign 0.07
X0066:Kl UTSW 5 150991615 nonsense probably null
Posted On2016-08-02