Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02098:Klb'

279680

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 #

IGL02098

Quality Score

Status

Chromosome

Chromosomal Location

65505657-65541350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65537228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 853 (R853S)

Ref Sequence

ENSEMBL: ENSMUSP00000031096 (fasta)

Gene Model

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

AlphaFold

Q99N32

Predicted Effect

probably benign
Transcript: ENSMUST00000031096
AA Change: R853S

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: R853S

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 benign
Transcript: ENSMUST00000205084

SMART Domains

Protein: ENSMUSP00000145091
Gene: ENSMUSG00000029195

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	C	T	8: 41,208,680 (GRCm39)	P649S	probably benign	Het
Ano3	T	A	2: 110,496,786 (GRCm39)	R788*	probably null	Het
Ccdc18	A	G	5: 108,349,977 (GRCm39)	E1043G	probably damaging	Het
Chd3	A	T	11: 69,250,655 (GRCm39)	H691Q	probably damaging	Het
Cts7	G	T	13: 61,504,343 (GRCm39)	F73L	probably damaging	Het
Cyp2c66	A	G	19: 39,159,473 (GRCm39)	Y308C	probably damaging	Het
Eef1a2	G	T	2: 180,794,582 (GRCm39)	P206T	probably benign	Het
Gcsh	G	T	8: 117,715,875 (GRCm39)	S69R	probably damaging	Het
Gm9989	T	A	3: 81,829,528 (GRCm39)		noncoding transcript	Het
Igkv6-25	C	T	6: 70,192,719 (GRCm39)	T42I	probably damaging	Het
Iqca1	T	C	1: 89,975,663 (GRCm39)	Y684C	probably damaging	Het
Kif6	G	A	17: 50,177,922 (GRCm39)	G602D	probably benign	Het
Mad1l1	A	C	5: 140,296,344 (GRCm39)		probably benign	Het
Magi1	T	C	6: 93,655,768 (GRCm39)	N1077D	probably damaging	Het
Med12l	T	A	3: 59,183,276 (GRCm39)	S1858T	possibly damaging	Het
Ncapg2	A	G	12: 116,407,952 (GRCm39)	E984G	possibly damaging	Het
Necab1	T	A	4: 14,955,892 (GRCm39)		probably benign	Het
Nexn	G	A	3: 151,949,540 (GRCm39)	R253*	probably null	Het
Npc1l1	A	G	11: 6,164,581 (GRCm39)	L1156P	probably damaging	Het
Or2y1	T	A	11: 49,386,224 (GRCm39)	I288N	probably damaging	Het
Or5ac15	A	T	16: 58,940,433 (GRCm39)		probably benign	Het
Or5b99	A	G	19: 12,976,937 (GRCm39)	I196V	probably benign	Het
Or8g17	A	G	9: 38,930,187 (GRCm39)	S217P	probably damaging	Het
Pramel25	T	A	4: 143,520,248 (GRCm39)		probably null	Het
Rassf7	T	C	7: 140,798,203 (GRCm39)	S381P	possibly damaging	Het
Rdh7	G	T	10: 127,720,607 (GRCm39)	T255K	probably benign	Het
Scn10a	T	A	9: 119,520,544 (GRCm39)	I119F	possibly damaging	Het
Slc15a3	T	A	19: 10,826,042 (GRCm39)	F244L	probably damaging	Het
Syde1	T	C	10: 78,425,205 (GRCm39)	S269G	probably damaging	Het
Teddm2	C	T	1: 153,726,081 (GRCm39)		probably benign	Het
Tenm3	T	C	8: 48,729,611 (GRCm39)	D1465G	possibly damaging	Het
Zkscan2	A	T	7: 123,099,064 (GRCm39)	S43T	probably benign	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
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

2015-04-16