Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01774:Kl'

154051

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ensembl Gene

ENSMUSG00000058488

Gene Name

klotho

Synonyms

alpha-kl

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01774

Quality Score

Status

Chromosome

Chromosomal Location

150952607-150993817 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 150988483 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 566 (V566L)

Ref Sequence

ENSEMBL: ENSMUSP00000077899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078856]

Predicted Effect

probably benign
Transcript: ENSMUST00000078856
AA Change: V566L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000077899
Gene: ENSMUSG00000058488
AA Change: V566L

Domain	Start	End	E-Value	Type
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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,477,835	D708G	probably damaging	Het
Abca16	T	C	7: 120,421,801		probably benign	Het
Abcc5	T	C	16: 20,378,457	D674G	probably damaging	Het
Abr	A	G	11: 76,464,299		probably benign	Het
Arfgef3	A	G	10: 18,743,615	I4T	possibly damaging	Het
Btla	A	G	16: 45,250,548	N290S	possibly damaging	Het
Catip	C	A	1: 74,368,483	R325S	probably damaging	Het
Cep120	A	G	18: 53,706,830	L786P	possibly damaging	Het
Cnot8	A	G	11: 58,115,307	I221V	probably benign	Het
Eloc	A	T	1: 16,645,789	D37E	probably benign	Het
Fabp12	A	C	3: 10,247,694	N89K	probably benign	Het
Ficd	G	T	5: 113,739,012	R416L	probably damaging	Het
Frmd3	T	C	4: 74,187,838	Y574H	probably damaging	Het
Frmd4a	T	C	2: 4,535,236		probably benign	Het
Gatc	G	A	5: 115,341,017	Q45*	probably null	Het
Gm5414	T	C	15: 101,626,975	D225G	probably benign	Het
Itpkc	G	T	7: 27,212,370	A592E	probably benign	Het
Lpin1	T	A	12: 16,558,476	D545V	probably damaging	Het
Mtcl1	T	C	17: 66,385,885	Y483C	probably damaging	Het
Neb	C	T	2: 52,222,970	W67*	probably null	Het
Nrarp	T	C	2: 25,181,286	V59A	possibly damaging	Het
Nuf2	G	A	1: 169,506,072	T345M	probably benign	Het
Olfr659	T	C	7: 104,670,942	I80T	probably benign	Het
Pacs2	T	A	12: 113,056,842	H278Q	probably benign	Het
Pot1a	T	C	6: 25,753,277	K420R	probably benign	Het
Rag2	A	G	2: 101,630,047	Y234C	probably damaging	Het
Ralgds	C	T	2: 28,550,542	Q88*	probably null	Het
Rictor	T	C	15: 6,769,777	S365P	probably damaging	Het
Slco1a1	G	A	6: 141,925,613	Q276*	probably null	Het
Tas2r134	C	T	2: 51,628,148	T213I	probably benign	Het
Tecpr1	A	G	5: 144,211,540	I349T	probably damaging	Het
Tnxb	T	C	17: 34,688,839	S1286P	probably damaging	Het
Trafd1	A	G	5: 121,375,050	V375A	possibly damaging	Het
Vmn2r110	T	A	17: 20,583,627	I229L	probably benign	Het
Vnn1	T	C	10: 23,900,710	Y320H	probably benign	Het
Zfp990	T	C	4: 145,536,948	V172A	probably benign	Het

Other mutations in Kl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
IGL03149:Kl	APN	5	150982735	nonsense	probably null
anatolia	UTSW	5	150988853	missense	possibly damaging	0.69
ararat	UTSW	5	150988853	missense	possibly damaging	0.69
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 On

2014-02-04