Mutagenetix > Incidental Mutations

Incidental Mutation 'R0592:Bglap'

56013

Institutional Source

Beutler Lab

Gene Symbol

Bglap

Ensembl Gene

ENSMUSG00000074483

Gene Name

bone gamma carboxyglutamate protein

Synonyms

Bglap, Bglap1, bone Gla protein, mOC-A, OC, OG1, osteocalcin

MMRRC Submission

038782-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R0592 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

88383501-88384464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88383655 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 90 (I90F)

Ref Sequence

ENSEMBL: ENSMUSP00000075425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076048] [ENSMUST00000098956]

Predicted Effect

probably benign
Transcript: ENSMUST00000076048
AA Change: I90F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000075425
Gene: ENSMUSG00000074483
AA Change: I90F

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
GLA	31	91	5.22e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098956

SMART Domains

Protein: ENSMUSP00000096555
Gene: ENSMUSG00000074486

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
GLA	31	91	5.22e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107540

SMART Domains

Protein: ENSMUSP00000103164
Gene: ENSMUSG00000078691

Domain	Start	End	E-Value	Type
Pfam:HlyIII	5	127	3.4e-21	PFAM
transmembrane domain	148	170	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128732

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

100% (35/35)

MGI Phenotype

FUNCTION: This gene encodes one of the most abundant non-collagenous proteins in bone tissue that is localized to the mineralized matrix of bone. The encoded preproprotein undergoes proteolytic processing and post-translational gamma carboxylation to generate a mature, calcium-binding protein. Mice lacking the encoded protein develop abnormalities of bone remodelling. This gene is located adjacent to two other osteocalcin-related genes on chromosome 3. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele of both Bglap1 and Bglap2 exhibit decreased circulating insulin, impaired glucose tolerance, increased adipose tissue, increased bone density, and decreased male fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2a	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	19: 6,245,007		probably benign	Het
Bbs7	A	T	3: 36,610,297	V53D	probably benign	Het
C2cd4b	G	A	9: 67,760,691	R323H	probably damaging	Het
Cdh5	T	A	8: 104,130,902		probably null	Het
Cdh8	T	A	8: 99,279,478	D159V	probably damaging	Het
Dnah7a	A	G	1: 53,456,612	Y3229H	possibly damaging	Het
Dzip1	T	C	14: 118,902,139	E381G	probably damaging	Het
Elmod1	A	G	9: 53,926,106		probably benign	Het
Exosc10	T	C	4: 148,581,113	S811P	probably benign	Het
Fhl3	A	G	4: 124,705,677	Y15C	probably benign	Het
Gstz1	G	A	12: 87,163,721	S126N	probably benign	Het
Hey2	C	A	10: 30,833,957	A267S	probably benign	Het
Iqce	A	T	5: 140,686,107		probably null	Het
Katnal2	A	T	18: 77,002,560		probably null	Het
Kdm2b	G	A	5: 122,961,134		probably benign	Het
Mov10l1	A	G	15: 88,998,766		probably null	Het
Numa1	A	G	7: 102,013,897	T724A	probably benign	Het
Oas3	A	G	5: 120,771,149	F244S	probably damaging	Het
Olfr1472	T	C	19: 13,453,705	I271V	probably benign	Het
Olfr715	G	A	7: 107,129,343	L17F	probably benign	Het
Ppil2	A	G	16: 17,107,219	S30P	probably benign	Het
Rab37	T	G	11: 115,160,523		probably benign	Het
Riox2	T	C	16: 59,489,579		probably benign	Het
Ryr3	A	G	2: 112,678,481	S3358P	probably damaging	Het
Sash1	T	A	10: 8,729,782	H948L	probably benign	Het
Serpinb6e	T	A	13: 33,841,074	N78I	probably damaging	Het
Slc25a47	G	A	12: 108,854,258	V63M	probably damaging	Het
Slc9b1	A	T	3: 135,394,074		probably benign	Het
Strip2	T	A	6: 29,931,210	S387T	probably benign	Het
Tcaf3	T	C	6: 42,596,843	N145S	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Trmu	T	C	15: 85,896,826		probably benign	Het
Vezf1	A	T	11: 88,068,435		probably benign	Het
Vmn2r116	C	T	17: 23,386,915	T267I	probably damaging	Het
Whrn	C	A	4: 63,415,567	A450S	probably damaging	Het

Other mutations in Bglap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Bglap	APN	3	88384350	critical splice donor site	probably null
IGL02631:Bglap	APN	3	88383680	nonsense	probably null
IGL02738:Bglap	APN	3	88384408	missense	unknown
IGL03394:Bglap	APN	3	88384005	missense	probably benign	0.04
R1945:Bglap	UTSW	3	88383664	missense	probably damaging	1.00
R4067:Bglap	UTSW	3	88384437	unclassified	probably benign
R4795:Bglap	UTSW	3	88384405	missense	unknown
R4796:Bglap	UTSW	3	88384405	missense	unknown
R7744:Bglap	UTSW	3	88383651	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGAGTGTGAAGCCTTCCCCGAC -3'
(R):5'- AGCCCTTAGCCTTCCATAGTGGTAG -3'

Sequencing Primer
(F):5'- CCACGATGGACAGACTCG -3'
(R):5'- TAGACGTGCAGGTCAATCC -3'

Posted On

2013-07-11