Mutagenetix > Incidental Mutation

Incidental Mutation 'R3420:Klb'

267006

Institutional Source

Beutler Lab

Gene Symbol

Klb

Ensembl Gene

ENSMUSG00000029195

Gene Name

klotho beta

Synonyms

betaKlotho

MMRRC Submission

040638-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R3420 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65505657-65541350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65529485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 338 (G338S)

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: G338S

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

SMART Domains

Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: G338S

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: G338S

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

SMART Domains

Protein: ENSMUSP00000145091
Gene: ENSMUSG00000029195
AA Change: G338S

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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
Agbl3	A	G	6: 34,770,900 (GRCm39)	T132A	probably benign	Het
Amn1	A	T	6: 149,070,950 (GRCm39)	L196*	probably null	Het
Ccdc73	A	T	2: 104,782,292 (GRCm39)	K216M	probably null	Het
Ccdc73	G	A	2: 104,782,293 (GRCm39)		probably null	Het
Celsr2	A	G	3: 108,321,732 (GRCm39)	V360A	probably benign	Het
Ckap5	T	A	2: 91,400,597 (GRCm39)	W650R	probably damaging	Het
Cyp2b9	G	A	7: 25,909,528 (GRCm39)	G432E	probably damaging	Het
Dclre1b	A	G	3: 103,715,412 (GRCm39)	Y29H	probably damaging	Het
Enthd1	T	C	15: 80,444,225 (GRCm39)	D110G	probably damaging	Het
Grin1	C	T	2: 25,193,926 (GRCm39)	G390D	probably damaging	Het
Hoxc6	T	A	15: 102,919,327 (GRCm39)	W188R	probably damaging	Het
Kcnip1	A	G	11: 33,595,594 (GRCm39)	V43A	probably damaging	Het
Kifap3	T	A	1: 163,621,595 (GRCm39)	I81N	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nuak2	A	G	1: 132,259,818 (GRCm39)	D532G	probably benign	Het
Or8d1	A	G	9: 38,766,621 (GRCm39)	K88E	possibly damaging	Het
Prps2	G	A	X: 166,165,504 (GRCm39)		probably null	Het
Prss23	C	A	7: 89,159,107 (GRCm39)	V321L	possibly damaging	Het
Psmb2	T	C	4: 126,571,630 (GRCm39)	M28T	probably damaging	Het
Ric1	T	C	19: 29,544,990 (GRCm39)	I230T	probably damaging	Het
Slc25a17	C	T	15: 81,244,901 (GRCm39)	V11I	probably benign	Het
Slc5a4a	T	C	10: 76,012,407 (GRCm39)	V359A	probably benign	Het
Slco1a5	A	T	6: 142,213,964 (GRCm39)	D52E	possibly damaging	Het
Tafa1	C	A	6: 96,626,099 (GRCm39)	D112E	probably damaging	Het
Tlr4	A	G	4: 66,757,773 (GRCm39)	I189V	probably benign	Het
Washc1	T	C	17: 66,424,028 (GRCm39)	S247P	probably damaging	Het
Zdhhc14	T	A	17: 5,803,366 (GRCm39)	*490R	probably null	Het
Zfp217	A	G	2: 169,961,937 (GRCm39)	F130S	possibly 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
IGL00821:Klb	APN	5	65,529,492 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CGATGATATTTTCTTTCCCACCAGG -3'
(R):5'- AATCCAGTTCAGCACCTGCC -3'

Sequencing Primer
(F):5'- CATTCGAAAGTGTGGCATAACTACG -3'
(R):5'- AGCACCTGCCTTAAGTTGAG -3'

Posted On

2015-02-18