Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00821:Klb'

13577

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klb

Ensembl Gene

ENSMUSG00000029195

Gene Name

klotho beta

Synonyms

betaKlotho

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

IGL00821

Quality Score

Status

Chromosome

Chromosomal Location

65505657-65541350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65529492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 340 (Y340F)

Ref Sequence

ENSEMBL: ENSMUSP00000145091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031096] [ENSMUST00000205084]

AlphaFold

Q99N32

Predicted Effect

probably damaging
Transcript: ENSMUST00000031096
AA Change: Y340F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: Y340F

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_1	77	385	8.8e-96	PFAM
Pfam:Glyco_hydro_1	374	506	1.7e-31	PFAM
Pfam:Glyco_hydro_1	515	965	6.3e-80	PFAM
transmembrane domain	995	1017	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000205084
AA Change: Y340F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145091
Gene: ENSMUSG00000029195
AA Change: Y340F

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_1	77	360	8.6e-94	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display increased bile acid synthesis and excretion, resistance to gallstone formation, and slightly decreased body weight. Mice homozygous for a knock-out allele or a conditional allele activated in adipose tissue exhibit resistanceto FGF21-induced metabolic disruptions. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted(2) Gene trapped(3)

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cad	T	C	5: 31,218,828 (GRCm39)	Y550H	probably damaging	Het
Cep350	A	G	1: 155,737,950 (GRCm39)	V2631A	probably benign	Het
Cpa2	A	G	6: 30,564,411 (GRCm39)	D414G	probably benign	Het
Dhx38	T	C	8: 110,282,286 (GRCm39)	I714V	probably benign	Het
Dis3	T	C	14: 99,328,922 (GRCm39)	I277V	probably benign	Het
Espl1	T	C	15: 102,208,248 (GRCm39)	L418P	probably damaging	Het
F7	A	G	8: 13,078,802 (GRCm39)	T78A	probably benign	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Golga3	C	A	5: 110,352,799 (GRCm39)	H897N	possibly damaging	Het
Itgae	T	A	11: 73,013,974 (GRCm39)	D724E	probably damaging	Het
Kmt2b	A	T	7: 30,270,038 (GRCm39)	L2436Q	probably damaging	Het
Krt17	A	G	11: 100,151,457 (GRCm39)	L112P	probably damaging	Het
Lrp2	T	A	2: 69,289,860 (GRCm39)	N3660Y	probably damaging	Het
Mia2	T	C	12: 59,217,106 (GRCm39)		probably null	Het
Myh2	C	T	11: 67,088,223 (GRCm39)		probably benign	Het
Nr2f1	A	G	13: 78,346,233 (GRCm39)		probably benign	Het
Odf2l	T	A	3: 144,856,748 (GRCm39)	S568T	probably damaging	Het
Parl	G	A	16: 20,116,958 (GRCm39)	P80S	probably damaging	Het
Ppfibp2	T	G	7: 107,329,083 (GRCm39)	F531V	probably damaging	Het
Prpf40b	A	G	15: 99,214,382 (GRCm39)	E854G	probably benign	Het
Rere	A	G	4: 150,703,920 (GRCm39)	K1551E	probably damaging	Het
Sacm1l	A	T	9: 123,399,614 (GRCm39)	Q302L	possibly damaging	Het
Slc41a2	A	G	10: 83,149,394 (GRCm39)		probably benign	Het
Smchd1	T	C	17: 71,705,618 (GRCm39)	T994A	possibly damaging	Het
Ubxn7	G	A	16: 32,188,216 (GRCm39)	D125N	probably damaging	Het
Zfp667	A	G	7: 6,308,396 (GRCm39)	N355D	possibly damaging	Het
Zfp839	T	C	12: 110,831,441 (GRCm39)		probably null	Het
Zfpm2	T	A	15: 40,966,783 (GRCm39)	N957K	probably damaging	Het

Other mutations in Klb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Klb	APN	5	65,529,717 (GRCm39)	missense	possibly damaging	0.90
IGL01082:Klb	APN	5	65,533,283 (GRCm39)	missense	possibly damaging	0.71
IGL01637:Klb	APN	5	65,533,022 (GRCm39)	critical splice acceptor site	probably null
IGL02098:Klb	APN	5	65,537,228 (GRCm39)	missense	probably benign	0.21
IGL03113:Klb	APN	5	65,540,813 (GRCm39)	missense	probably benign	0.00
1mM(1):Klb	UTSW	5	65,505,993 (GRCm39)	missense	probably damaging	1.00
P0016:Klb	UTSW	5	65,537,266 (GRCm39)	nonsense	probably null
R0268:Klb	UTSW	5	65,506,180 (GRCm39)	missense	probably benign	0.02
R0383:Klb	UTSW	5	65,529,842 (GRCm39)	splice site	probably null
R0676:Klb	UTSW	5	65,536,398 (GRCm39)	missense	probably damaging	1.00
R0735:Klb	UTSW	5	65,537,070 (GRCm39)	missense	probably benign
R0972:Klb	UTSW	5	65,506,089 (GRCm39)	missense	possibly damaging	0.70
R1051:Klb	UTSW	5	65,536,670 (GRCm39)	missense	probably damaging	1.00
R1168:Klb	UTSW	5	65,536,317 (GRCm39)	missense	probably damaging	1.00
R1372:Klb	UTSW	5	65,506,089 (GRCm39)	missense	possibly damaging	0.70
R1403:Klb	UTSW	5	65,506,089 (GRCm39)	missense	possibly damaging	0.70
R1403:Klb	UTSW	5	65,506,089 (GRCm39)	missense	possibly damaging	0.70
R1446:Klb	UTSW	5	65,506,338 (GRCm39)	missense	probably damaging	1.00
R1696:Klb	UTSW	5	65,506,089 (GRCm39)	missense	possibly damaging	0.70
R1743:Klb	UTSW	5	65,533,204 (GRCm39)	missense	probably damaging	0.99
R1801:Klb	UTSW	5	65,506,578 (GRCm39)	missense	probably null	0.90
R1804:Klb	UTSW	5	65,537,196 (GRCm39)	missense	probably damaging	1.00
R1848:Klb	UTSW	5	65,506,180 (GRCm39)	missense	probably benign	0.02
R1967:Klb	UTSW	5	65,529,417 (GRCm39)	missense	probably damaging	0.98
R3420:Klb	UTSW	5	65,529,485 (GRCm39)	missense	probably damaging	1.00
R4397:Klb	UTSW	5	65,537,382 (GRCm39)	missense	probably damaging	1.00
R4490:Klb	UTSW	5	65,533,137 (GRCm39)	missense	probably benign	0.02
R4491:Klb	UTSW	5	65,533,137 (GRCm39)	missense	probably benign	0.02
R4547:Klb	UTSW	5	65,537,271 (GRCm39)	missense	probably benign	0.00
R4878:Klb	UTSW	5	65,505,833 (GRCm39)	missense	probably damaging	0.99
R5269:Klb	UTSW	5	65,506,140 (GRCm39)	missense	probably damaging	1.00
R5418:Klb	UTSW	5	65,540,813 (GRCm39)	missense	probably benign	0.00
R5453:Klb	UTSW	5	65,540,728 (GRCm39)	missense	probably benign	0.08
R5541:Klb	UTSW	5	65,536,577 (GRCm39)	missense	probably benign	0.27
R5672:Klb	UTSW	5	65,537,292 (GRCm39)	missense	possibly damaging	0.82
R5841:Klb	UTSW	5	65,536,667 (GRCm39)	nonsense	probably null
R6088:Klb	UTSW	5	65,506,356 (GRCm39)	missense	probably benign	0.07
R6807:Klb	UTSW	5	65,536,877 (GRCm39)	missense	probably damaging	1.00
R6955:Klb	UTSW	5	65,536,431 (GRCm39)	nonsense	probably null
R7068:Klb	UTSW	5	65,536,683 (GRCm39)	missense	probably damaging	1.00
R7284:Klb	UTSW	5	65,540,821 (GRCm39)	missense	probably benign	0.01
R7322:Klb	UTSW	5	65,540,707 (GRCm39)	missense	probably benign	0.44
R7346:Klb	UTSW	5	65,505,974 (GRCm39)	nonsense	probably null
R7366:Klb	UTSW	5	65,529,774 (GRCm39)	missense	probably damaging	1.00
R8134:Klb	UTSW	5	65,540,958 (GRCm39)	missense	probably benign	0.00
R8243:Klb	UTSW	5	65,536,338 (GRCm39)	missense	possibly damaging	0.65
R8409:Klb	UTSW	5	65,536,878 (GRCm39)	missense	probably damaging	0.96
R8971:Klb	UTSW	5	65,533,026 (GRCm39)	missense	probably damaging	1.00
R9193:Klb	UTSW	5	65,529,368 (GRCm39)	missense	possibly damaging	0.63
R9305:Klb	UTSW	5	65,505,988 (GRCm39)	nonsense	probably null
R9390:Klb	UTSW	5	65,533,044 (GRCm39)	missense	possibly damaging	0.50
R9531:Klb	UTSW	5	65,540,948 (GRCm39)	missense
R9768:Klb	UTSW	5	65,537,373 (GRCm39)	missense	probably damaging	1.00
Z1177:Klb	UTSW	5	65,506,084 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06