Mutagenetix > Incidental Mutation

Incidental Mutation 'R7322:Klb'

568209

Institutional Source

Beutler Lab

Gene Symbol

Klb

Ensembl Gene

ENSMUSG00000029195

Gene Name

klotho beta

Synonyms

betaKlotho

MMRRC Submission

045417-MU

Accession Numbers

Genbank: NM_031180.2; Ensembl: ENSMUST00000031096;

MGI:1932466

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

R7322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65348314-65384007 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65383364 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 933 (E933D)

Ref Sequence

ENSEMBL: ENSMUSP00000031096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031096] [ENSMUST00000057885] [ENSMUST00000118543] [ENSMUST00000127874] [ENSMUST00000205084]

AlphaFold

Q99N32

Predicted Effect

probably benign
Transcript: ENSMUST00000031096
AA Change: E933D

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: E933D

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: ENSMUST00000057885

SMART Domains

Protein: ENSMUSP00000109399
Gene: ENSMUSG00000047215

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L6	12	87	8.1e-18	PFAM
Pfam:Ribosomal_L6	99	178	7.4e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118543

SMART Domains

Protein: ENSMUSP00000113391
Gene: ENSMUSG00000047215

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L6	12	87	1.1e-19	PFAM
Pfam:Ribosomal_L6	99	165	1.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127874

SMART Domains

Protein: ENSMUSP00000115577
Gene: ENSMUSG00000047215

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L6	12	80	3.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150815

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

Strain: 3587748
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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,067,151	V1352D	probably damaging	Het
Adam33	C	T	2: 131,053,694	C567Y	probably damaging	Het
Alppl2	C	A	1: 87,087,462	G422C	probably benign	Het
Ang	T	A	14: 51,101,411	I3K	unknown	Het
Ankrd10	A	T	8: 11,615,841	V253E	probably damaging	Het
Arhgef17	T	C	7: 100,877,797	I806V	probably benign	Het
Atp10b	T	C	11: 43,212,547	L586P	probably damaging	Het
Bdkrb1	T	C	12: 105,604,304	V43A	possibly damaging	Het
Brinp3	C	T	1: 146,682,688	R117*	probably null	Het
Brwd1	A	T	16: 96,066,119	M172K	probably damaging	Het
Bsn	G	A	9: 108,126,421	R262*	probably null	Het
Bst2	A	C	8: 71,537,207	L74R	probably damaging	Het
C1qa	T	C	4: 136,896,154	*246W	probably null	Het
Cadm2	G	A	16: 66,882,846	T42M	probably damaging	Het
Ccdc150	A	G	1: 54,259,966	T34A	probably benign	Het
Ccdc178	G	A	18: 22,105,549	T337M	probably benign	Het
Ccl8	T	C	11: 82,116,582	V81A	probably damaging	Het
Dgcr6	A	G	16: 18,070,907	T69A	unknown	Het
Dnah10	A	G	5: 124,821,269	D3762G	probably benign	Het
Eif3d	T	C	15: 77,961,676	T382A	probably benign	Het
Epb41	A	T	4: 131,989,719	Y375N	probably damaging	Het
Epb41l1	A	T	2: 156,503,851	H258L	probably damaging	Het
Fbn1	A	C	2: 125,479,195	I81S	possibly damaging	Het
Fzd5	A	G	1: 64,735,328	S425P	probably damaging	Het
Gfra2	T	A	14: 70,968,391	V398D	probably benign	Het
Gm3755	A	G	14: 7,448,178	L130P		Het
Grin3b	A	G	10: 79,975,695	Y705C	probably damaging	Het
Hmcn2	A	G	2: 31,459,081	D4944G	probably damaging	Het
Hoxd11	T	C	2: 74,684,011	L295P	probably damaging	Het
Ighv1-81	C	A	12: 115,920,667	G16C	possibly damaging	Het
Kcna5	T	C	6: 126,533,791	D458G	possibly damaging	Het
Lrp1	A	T	10: 127,545,564	M3855K	probably benign	Het
Map3k4	A	T	17: 12,270,946	L533I	probably damaging	Het
Mrps6	C	A	16: 92,058,447	Y4*	probably null	Het
Nabp1	A	T	1: 51,473,070	V105E	probably damaging	Het
Naip6	T	A	13: 100,299,388	N876Y	possibly damaging	Het
Nlrp2	T	C	7: 5,308,645	S944G	possibly damaging	Het
Nr4a3	A	T	4: 48,083,238	E590D	probably benign	Het
Olfr1054	C	T	2: 86,332,564	S264N	probably benign	Het
Olfr1106	A	T	2: 87,048,479	Y252*	probably null	Het
Olfr1564	A	G	17: 33,215,699	I215T	probably damaging	Het
Olfr362	T	C	2: 37,105,591	R20G	probably null	Het
Olfr597	T	A	7: 103,321,287	V292E		Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Pdzd2	T	C	15: 12,437,162	D451G	probably damaging	Het
Pkd2l1	A	G	19: 44,157,690	S142P	probably benign	Het
Postn	T	C	3: 54,370,280	L232P	probably damaging	Het
Prss8	T	C	7: 127,929,563	T33A	probably benign	Het
Rapgef2	A	T	3: 79,145,823	M1K	probably null	Het
Rasa3	T	C	8: 13,595,857	N161S	possibly damaging	Het
Riox1	G	A	12: 83,950,668		probably benign	Het
Rmdn2	A	T	17: 79,621,611	K97N	probably damaging	Het
Sgo1	A	G	17: 53,677,057	L431P	probably damaging	Het
Slc9a8	T	A	2: 167,451,302	V217E	probably damaging	Het
Slco2b1	C	T	7: 99,691,848	G21D	not run	Het
Spata31d1d	C	A	13: 59,726,976	R915L	probably benign	Het
Stk17b	A	T	1: 53,765,945	N152K	probably benign	Het
Syne2	T	A	12: 75,984,024	I3634N	probably damaging	Het
Tnfrsf9	A	G	4: 150,934,337	D155G	probably damaging	Het
Tnrc6a	T	A	7: 123,171,508	D840E	probably benign	Het
Tyk2	G	A	9: 21,110,204	S902L	probably benign	Het
Unc119	T	C	11: 78,348,623	S235P	probably damaging	Het
Vav1	A	C	17: 57,302,266	D394A	probably benign	Het
Vezf1	T	A	11: 88,081,584	I439K	possibly damaging	Het
Zadh2	A	G	18: 84,095,135	Y312C	probably damaging	Het
Zfp335	A	T	2: 164,910,821	M1K	probably null	Het
Zfp715	T	C	7: 43,311,138	T10A	possibly damaging	Het
Zmynd11	C	T	13: 9,690,409	E382K	possibly damaging	Het

Other mutations in Klb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Klb	APN	5	65372374	missense	possibly damaging	0.90
IGL00821:Klb	APN	5	65372149	missense	probably damaging	1.00
IGL01082:Klb	APN	5	65375940	missense	possibly damaging	0.71
IGL01637:Klb	APN	5	65375679	critical splice acceptor site	probably null
IGL02098:Klb	APN	5	65379885	missense	probably benign	0.21
IGL03113:Klb	APN	5	65383470	missense	probably benign	0.00
1mM(1):Klb	UTSW	5	65348650	missense	probably damaging	1.00
P0016:Klb	UTSW	5	65379923	nonsense	probably null
R0268:Klb	UTSW	5	65348837	missense	probably benign	0.02
R0383:Klb	UTSW	5	65372499	splice site	probably null
R0676:Klb	UTSW	5	65379055	missense	probably damaging	1.00
R0735:Klb	UTSW	5	65379727	missense	probably benign
R0972:Klb	UTSW	5	65348746	missense	possibly damaging	0.70
R1051:Klb	UTSW	5	65379327	missense	probably damaging	1.00
R1168:Klb	UTSW	5	65378974	missense	probably damaging	1.00
R1372:Klb	UTSW	5	65348746	missense	possibly damaging	0.70
R1403:Klb	UTSW	5	65348746	missense	possibly damaging	0.70
R1403:Klb	UTSW	5	65348746	missense	possibly damaging	0.70
R1446:Klb	UTSW	5	65348995	missense	probably damaging	1.00
R1696:Klb	UTSW	5	65348746	missense	possibly damaging	0.70
R1743:Klb	UTSW	5	65375861	missense	probably damaging	0.99
R1801:Klb	UTSW	5	65349235	missense	probably null	0.90
R1804:Klb	UTSW	5	65379853	missense	probably damaging	1.00
R1848:Klb	UTSW	5	65348837	missense	probably benign	0.02
R1967:Klb	UTSW	5	65372074	missense	probably damaging	0.98
R3420:Klb	UTSW	5	65372142	missense	probably damaging	1.00
R4397:Klb	UTSW	5	65380039	missense	probably damaging	1.00
R4490:Klb	UTSW	5	65375794	missense	probably benign	0.02
R4491:Klb	UTSW	5	65375794	missense	probably benign	0.02
R4547:Klb	UTSW	5	65379928	missense	probably benign	0.00
R4878:Klb	UTSW	5	65348490	missense	probably damaging	0.99
R5269:Klb	UTSW	5	65348797	missense	probably damaging	1.00
R5418:Klb	UTSW	5	65383470	missense	probably benign	0.00
R5453:Klb	UTSW	5	65383385	missense	probably benign	0.08
R5541:Klb	UTSW	5	65379234	missense	probably benign	0.27
R5672:Klb	UTSW	5	65379949	missense	possibly damaging	0.82
R5841:Klb	UTSW	5	65379324	nonsense	probably null
R6088:Klb	UTSW	5	65349013	missense	probably benign	0.07
R6807:Klb	UTSW	5	65379534	missense	probably damaging	1.00
R6955:Klb	UTSW	5	65379088	nonsense	probably null
R7068:Klb	UTSW	5	65379340	missense	probably damaging	1.00
R7284:Klb	UTSW	5	65383478	missense	probably benign	0.01
R7346:Klb	UTSW	5	65348631	nonsense	probably null
R7366:Klb	UTSW	5	65372431	missense	probably damaging	1.00
R8134:Klb	UTSW	5	65383615	missense	probably benign	0.00
R8243:Klb	UTSW	5	65378995	missense	possibly damaging	0.65
R8409:Klb	UTSW	5	65379535	missense	probably damaging	0.96
R8971:Klb	UTSW	5	65375683	missense	probably damaging	1.00
R9193:Klb	UTSW	5	65372025	missense	possibly damaging	0.63
R9305:Klb	UTSW	5	65348645	nonsense	probably null
R9390:Klb	UTSW	5	65375701	missense	possibly damaging	0.50
R9531:Klb	UTSW	5	65383605	missense
R9768:Klb	UTSW	5	65380030	missense	probably damaging	1.00
Z1177:Klb	UTSW	5	65348741	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCTTCAATGAGAATCATGACTTCA -3'
(R):5'- CCACGAGAAATGAGCAAATGGT -3'

Sequencing Primer
(F):5'- AGGGCATTGGATCCCATTAC -3'
(R):5'- CAAATGGTGCAGTCTGTGTCTTCC -3'

Posted On

2019-06-26