Mutagenetix > Incidental Mutation

Incidental Mutation 'R2296:Bglap3'

245170

Institutional Source

Beutler Lab

Gene Symbol

Bglap3

Ensembl Gene

ENSMUSG00000074489

Gene Name

bone gamma-carboxyglutamate protein 3

Synonyms

Bglap-rs1, ORG, mOC-X

MMRRC Submission

040295-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2296 (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: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	G	1: 11,582,275 (GRCm39)	E68G	possibly damaging	Het
Apob	A	G	12: 8,044,879 (GRCm39)	D820G	probably damaging	Het
Calr3	C	T	8: 73,178,469 (GRCm39)		probably benign	Het
Carmil1	A	G	13: 24,299,492 (GRCm39)	L344P	probably damaging	Het
Cop1	G	A	1: 159,072,220 (GRCm39)	V109M	possibly damaging	Het
Dennd4b	T	A	3: 90,182,821 (GRCm39)	N879K	probably damaging	Het
Fam13b	T	C	18: 34,627,814 (GRCm39)	D129G	possibly damaging	Het
Fam222a	C	A	5: 114,749,027 (GRCm39)	H74Q	possibly damaging	Het
Gata5	A	G	2: 179,970,113 (GRCm39)	M278T	possibly damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Iigp1c	T	A	18: 60,378,542 (GRCm39)	C26S	probably benign	Het
Inpp5k	T	G	11: 75,530,313 (GRCm39)	L251R	probably damaging	Het
Lrrc36	T	G	8: 106,187,651 (GRCm39)	D522E	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nras	T	A	3: 102,966,350 (GRCm39)		probably null	Het
Nudt12	A	G	17: 59,317,044 (GRCm39)	V201A	possibly damaging	Het
Phf2	T	C	13: 48,988,754 (GRCm39)	E39G	unknown	Het
Serpinb3a	A	T	1: 106,975,291 (GRCm39)	V172D	probably damaging	Het
Stab2	T	A	10: 86,790,338 (GRCm39)		probably null	Het
Trim3	A	G	7: 105,262,481 (GRCm39)	I559T	probably damaging	Het
Trp53bp1	A	T	2: 121,039,728 (GRCm39)	S1304T	possibly damaging	Het
Xrcc5	A	T	1: 72,385,485 (GRCm39)	K525N	probably benign	Het
Zfp110	T	A	7: 12,583,467 (GRCm39)	V705D	probably damaging	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
R2326:Bglap3	UTSW	3	88,276,819 (GRCm39)	unclassified	probably benign
R2917: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'- CCAGTACCTTTGTCAGACTCAGG -3'
(R):5'- CTCCTGCATGCATGTTGAAAG -3'

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

Posted On

2014-10-30