Mutagenetix > Incidental Mutation

Incidental Mutation 'R2156:Kl'

234809

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000058488

Gene Name

klotho

Synonyms

alpha-kl

MMRRC Submission

040159-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2156 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150876072-150917282 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150912425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 725 (K725E)

Ref Sequence

ENSEMBL: ENSMUSP00000077899 (fasta)

Gene Model

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

AlphaFold

O35082

Predicted Effect

probably benign
Transcript: ENSMUST00000078856
AA Change: K725E

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077899
Gene: ENSMUSG00000058488
AA Change: K725E

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

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,313,134 (GRCm39)		probably null	Het
Acaa2	T	C	18: 74,926,476 (GRCm39)		probably null	Het
Adam7	T	C	14: 68,748,792 (GRCm39)	Q485R	probably benign	Het
Adcy4	T	G	14: 56,006,627 (GRCm39)	T1069P	probably benign	Het
Arsj	T	C	3: 126,232,337 (GRCm39)	L361P	probably damaging	Het
Birc2	A	C	9: 7,826,939 (GRCm39)	L349R	probably damaging	Het
C1qa	T	C	4: 136,623,727 (GRCm39)	Y159C	probably damaging	Het
Cdh13	A	G	8: 119,963,703 (GRCm39)	K428E	probably damaging	Het
Cenpe	T	C	3: 134,953,235 (GRCm39)	M1563T	probably benign	Het
Col10a1	T	C	10: 34,271,696 (GRCm39)	V556A	probably benign	Het
Creg2	G	A	1: 39,662,338 (GRCm39)	L265F	probably damaging	Het
Cyp1a2	T	A	9: 57,589,433 (GRCm39)	D127V	probably damaging	Het
Cyp3a44	A	T	5: 145,740,480 (GRCm39)	Y53*	probably null	Het
Cyth1	C	T	11: 118,073,634 (GRCm39)	R233Q	probably damaging	Het
Dnmbp	G	A	19: 43,890,346 (GRCm39)	H474Y	possibly damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Ercc2	G	A	7: 19,120,717 (GRCm39)	R206H	possibly damaging	Het
Evx2	T	A	2: 74,486,360 (GRCm39)	H343L	probably damaging	Het
Fcrl2	T	A	3: 87,164,648 (GRCm39)	I293F	probably benign	Het
Gcnt4	A	G	13: 97,082,974 (GRCm39)	E90G	probably damaging	Het
Gid8	T	G	2: 180,358,751 (GRCm39)	C139G	probably benign	Het
Gm11938	C	A	11: 99,493,933 (GRCm39)	C54F	probably damaging	Het
Gm3336	G	A	8: 71,174,509 (GRCm39)	V158I	probably benign	Het
Gucy1b1	T	C	3: 81,968,327 (GRCm39)	N60D	probably benign	Het
Hdac7	T	C	15: 97,691,944 (GRCm39)	K810E	probably benign	Het
Hsp90ab1	A	G	17: 45,880,629 (GRCm39)	F361L	possibly damaging	Het
Igf2bp3	A	T	6: 49,085,858 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,775,118 (GRCm39)	I772N	probably damaging	Het
Iqca1	A	G	1: 90,017,238 (GRCm39)	L390P	possibly damaging	Het
Itgb2	C	T	10: 77,396,082 (GRCm39)	R586W	probably benign	Het
Itih1	A	G	14: 30,655,432 (GRCm39)	S588P	possibly damaging	Het
Iyd	T	A	10: 3,497,166 (GRCm39)		probably null	Het
Layn	T	A	9: 50,968,697 (GRCm39)	M349L	probably benign	Het
Map3k5	T	C	10: 19,900,683 (GRCm39)	Y286H	probably damaging	Het
Med4	C	T	14: 73,755,472 (GRCm39)		probably benign	Het
Mfn1	T	A	3: 32,588,400 (GRCm39)	N42K	possibly damaging	Het
Mindy2	T	C	9: 70,563,874 (GRCm39)	D152G	probably benign	Het
Mrc2	A	G	11: 105,238,682 (GRCm39)		probably null	Het
Mrpl11	C	A	19: 5,012,497 (GRCm39)	A26E	probably damaging	Het
Msh6	G	A	17: 88,293,568 (GRCm39)	W774*	probably null	Het
Mtch1	A	T	17: 29,561,841 (GRCm39)	V121E	probably damaging	Het
Mtg2	G	T	2: 179,725,923 (GRCm39)	E178*	probably null	Het
Nbas	A	T	12: 13,491,510 (GRCm39)	N1461Y	probably damaging	Het
Ndfip2	A	G	14: 105,525,204 (GRCm39)	T65A	probably benign	Het
Ninl	G	T	2: 150,786,503 (GRCm39)	Q1146K	probably damaging	Het
Notch1	T	C	2: 26,350,873 (GRCm39)	D2089G	possibly damaging	Het
Notch3	C	T	17: 32,366,818 (GRCm39)	V906M	probably damaging	Het
Or51l14	A	G	7: 103,101,371 (GRCm39)	I276V	probably benign	Het
Or6b6	A	G	7: 106,570,775 (GRCm39)	Y259H	probably damaging	Het
Osmr	A	T	15: 6,873,891 (GRCm39)	Y169N	probably benign	Het
Ovgp1	T	C	3: 105,885,033 (GRCm39)	V124A	possibly damaging	Het
P2rx1	T	C	11: 72,904,939 (GRCm39)	M369T	probably benign	Het
Pde4dip	T	C	3: 97,631,534 (GRCm39)	Q1125R	probably damaging	Het
Podn	A	T	4: 107,878,892 (GRCm39)	V180E	probably damaging	Het
Pold1	A	T	7: 44,188,542 (GRCm39)	V475E	probably damaging	Het
Polg	A	G	7: 79,111,468 (GRCm39)	I261T	possibly damaging	Het
Satb1	G	T	17: 52,047,438 (GRCm39)	Q595K	probably benign	Het
Scaf8	T	A	17: 3,214,407 (GRCm39)		probably null	Het
Semp2l1	T	A	1: 32,585,128 (GRCm39)	M261L	probably benign	Het
Serpinb3a	C	T	1: 106,975,202 (GRCm39)		probably null	Het
Slc22a26	T	C	19: 7,779,480 (GRCm39)	D112G	probably damaging	Het
Slc25a23	A	G	17: 57,352,562 (GRCm39)	F441L	probably benign	Het
Slc25a53	T	C	X: 135,884,216 (GRCm39)	T42A	probably damaging	Het
Slc6a15	T	C	10: 103,229,269 (GRCm39)	Y103H	probably damaging	Het
Slx4	A	G	16: 3,804,223 (GRCm39)	S864P	probably benign	Het
Snap91	T	C	9: 86,707,130 (GRCm39)	E220G	probably damaging	Het
Spam1	T	C	6: 24,796,267 (GRCm39)	F73L	probably damaging	Het
Sphkap	C	T	1: 83,255,710 (GRCm39)	V393M	probably benign	Het
Spred2	T	C	11: 19,971,241 (GRCm39)	Y370H	probably damaging	Het
Sqle	T	C	15: 59,195,578 (GRCm39)		probably null	Het
Srrm2	A	G	17: 24,037,237 (GRCm39)	T1390A	probably benign	Het
Tas1r2	A	G	4: 139,396,352 (GRCm39)	R564G	possibly damaging	Het
Tbl2	G	T	5: 135,185,374 (GRCm39)		probably null	Het
Tcof1	T	C	18: 60,964,901 (GRCm39)	D606G	possibly damaging	Het
Tdpoz3	T	A	3: 93,734,087 (GRCm39)	L254H	probably damaging	Het
Trpm1	A	T	7: 63,884,736 (GRCm39)	I806F	probably damaging	Het
Ttc22	A	G	4: 106,496,237 (GRCm39)	D429G	probably benign	Het
Ube2o	C	A	11: 116,471,972 (GRCm39)	G90C	probably damaging	Het
Usp34	T	A	11: 23,332,602 (GRCm39)	F1110I	probably damaging	Het
Vmn2r82	T	C	10: 79,214,722 (GRCm39)	L235P	probably damaging	Het
Vps35	A	G	8: 86,013,129 (GRCm39)	V116A	probably benign	Het
Wdfy3	A	G	5: 102,046,291 (GRCm39)		probably null	Het
Zeb2	T	C	2: 44,878,821 (GRCm39)	K1138E	probably benign	Het
Zfp513	G	A	5: 31,357,866 (GRCm39)	T169I	probably benign	Het
Zfp629	T	C	7: 127,211,551 (GRCm39)	D86G	probably benign	Het

Other mutations in Kl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGCAGACTACGCAAACCTG -3'
(R):5'- TCAAAGGAACCCCGGACTAG -3'

Sequencing Primer
(F):5'- CGCAAACCTGTGTTTTAAAGAGTTGG -3'
(R):5'- TCATCTTCGGTGAAATAGGGC -3'

Posted On

2014-10-01