Mutagenetix > Incidental Mutation

Incidental Mutation 'R2917:Bglap3'

254898

Institutional Source

Beutler Lab

Gene Symbol

Bglap3

Ensembl Gene

ENSMUSG00000074489

Gene Name

bone gamma-carboxyglutamate protein 3

Synonyms

Bglap-rs1, ORG, mOC-X

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R2917 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88275923-88280048 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to C at 88276819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075523] [ENSMUST00000107542] [ENSMUST00000107543] [ENSMUST00000147948] [ENSMUST00000147991]

AlphaFold

P54615

Predicted Effect

unknown
Transcript: ENSMUST00000075523
AA Change: L9V

SMART Domains

Protein: ENSMUSP00000074965
Gene: ENSMUSG00000074489
AA Change: L9V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
GLA	31	91	5.9e-22	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000107542
AA Change: L9V

SMART Domains

Protein: ENSMUSP00000103166
Gene: ENSMUSG00000074489
AA Change: L9V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
GLA	31	91	5.9e-22	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000107543
AA Change: L9V

SMART Domains

Protein: ENSMUSP00000103167
Gene: ENSMUSG00000074489
AA Change: L9V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
GLA	31	91	5.9e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147818

Predicted Effect

probably benign
Transcript: ENSMUST00000147948

SMART Domains

Protein: ENSMUSP00000119656
Gene: ENSMUSG00000041423

Domain	Start	End	E-Value	Type
Pfam:HlyIII	59	161	6.8e-18	PFAM
transmembrane domain	180	202	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149640

Predicted Effect

probably benign
Transcript: ENSMUST00000147991

SMART Domains

Protein: ENSMUSP00000114166
Gene: ENSMUSG00000041423

Domain	Start	End	E-Value	Type
Pfam:HlyIII	43	271	5.5e-51	PFAM
transmembrane domain	292	314	N/A	INTRINSIC

Meta Mutation Damage Score

0.1777

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	A	17: 57,192,141 (GRCm39)	V568E	probably damaging	Het
Ap3m2	A	G	8: 23,289,815 (GRCm39)	V96A	probably benign	Het
Brd7	A	G	8: 89,069,408 (GRCm39)	I429T	probably damaging	Het
Cacna1h	A	C	17: 25,614,426 (GRCm39)	L230R	probably damaging	Het
Camta2	A	G	11: 70,571,787 (GRCm39)	F479S	probably damaging	Het
Cmya5	A	T	13: 93,227,572 (GRCm39)	Y2505*	probably null	Het
Colgalt2	T	A	1: 152,347,495 (GRCm39)	V143D	probably damaging	Het
Dnaja1	C	T	4: 40,724,052 (GRCm39)	A71V	possibly damaging	Het
Gpr33	A	G	12: 52,070,379 (GRCm39)	V220A	possibly damaging	Het
Hsph1	A	T	5: 149,554,251 (GRCm39)	L168*	probably null	Het
Lig4	T	A	8: 10,021,596 (GRCm39)	E728V	possibly damaging	Het
Mrps23	T	C	11: 88,100,743 (GRCm39)	S75P	probably damaging	Het
Or2aa1	T	C	11: 59,480,265 (GRCm39)	T217A	probably benign	Het
Or5af2	A	G	11: 58,708,314 (GRCm39)	N160S	probably damaging	Het
Prss50	G	T	9: 110,691,613 (GRCm39)	G306C	probably null	Het
Rnf149	A	T	1: 39,591,564 (GRCm39)	S392T	probably benign	Het
Scn8a	T	A	15: 100,937,613 (GRCm39)	F1661I	probably damaging	Het
Slc12a8	T	A	16: 33,371,296 (GRCm39)	I144N	probably damaging	Het
Stxbp5l	A	T	16: 37,021,004 (GRCm39)	L630*	probably null	Het
Tmem131l	G	A	3: 83,844,887 (GRCm39)	R441*	probably null	Het
Trim63	T	C	4: 134,050,462 (GRCm39)	Y249H	probably damaging	Het
Vmn2r125	T	G	4: 156,703,564 (GRCm39)	L314R	probably benign	Het
Vwf	A	G	6: 125,585,106 (GRCm39)	N663D	probably benign	Het

Other mutations in Bglap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02343:Bglap3	APN	3	88,276,423 (GRCm39)	missense	possibly damaging	0.90
IGL02984:Bglap3	UTSW	3	88,276,098 (GRCm39)	missense	possibly damaging	0.66
R0496:Bglap3	UTSW	3	88,276,444 (GRCm39)	missense	probably damaging	0.98
R1435:Bglap3	UTSW	3	88,276,453 (GRCm39)	missense	possibly damaging	0.70
R1903:Bglap3	UTSW	3	88,276,068 (GRCm39)	missense	probably benign	0.01
R1970:Bglap3	UTSW	3	88,284,300 (GRCm39)	unclassified	probably benign
R2296:Bglap3	UTSW	3	88,276,819 (GRCm39)	unclassified	probably benign
R2326:Bglap3	UTSW	3	88,276,819 (GRCm39)	unclassified	probably benign
R4967:Bglap3	UTSW	3	88,283,671 (GRCm39)	unclassified	probably benign
R5941:Bglap3	UTSW	3	88,283,653 (GRCm39)	unclassified	probably benign
R6259:Bglap3	UTSW	3	88,276,067 (GRCm39)	missense	probably damaging	0.99
R9537:Bglap3	UTSW	3	88,276,139 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACCTTTGTCAGACTCAGGGC -3'
(R):5'- AGAGACTCCTGCATGCATGTTG -3'

Sequencing Primer
(F):5'- CGTGGCATCTGTAAAGCAAAC -3'
(R):5'- ACTCCTGCATGCATGTTGAAAGG -3'

Posted On

2014-12-29