Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02984:Bglap3'

453260

Institutional Source

Beutler Lab

Gene Symbol

Bglap3

Ensembl Gene

ENSMUSG00000074489

Gene Name

bone gamma-carboxyglutamate protein 3

Synonyms

ORG, Bglap-rs1, mOC-X

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL02984 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88368616-88372743 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88368791 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 85 (T85A)

Ref Sequence

ENSEMBL: ENSMUSP00000103167 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075523
AA Change: T85A

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000074965
Gene: ENSMUSG00000074489
AA Change: T85A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107542
AA Change: T85A

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103166
Gene: ENSMUSG00000074489
AA Change: T85A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107543
AA Change: T85A

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103167
Gene: ENSMUSG00000074489
AA Change: T85A

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152477

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 87,972,803	I473N	probably damaging	Het
4933416I08Rik	TCC	TCCC	X: 53,690,895		noncoding transcript	Het
A530064D06Rik	T	C	17: 48,163,280	I178V	probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Aldh1l2	G	A	10: 83,527,335	P55S	probably damaging	Het
Cilp	TGGG	TGG	9: 65,280,130		probably null	Het
Crb1	CG	C	1: 139,237,086		probably null	Het
Csrnp3	A	G	2: 66,022,209	D315G	probably benign	Het
Dclk3	T	C	9: 111,488,575	Y760H	probably damaging	Het
Eef1akmt2	A	G	7: 132,837,206	*52R	probably null	Het
Epc2	A	G	2: 49,528,854	K225E	probably damaging	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Foxi2	C	T	7: 135,410,398	T5M	possibly damaging	Het
Frmd4b	T	A	6: 97,296,260	T670S	probably damaging	Het
Gm14137	G	T	2: 119,175,480	E173D	probably damaging	Het
Kif12	GGGGC	GGGGCCTCCACCCGGCGGGC	4: 63,171,423		probably benign	Het
Mfsd4b3	G	A	10: 39,947,188		probably benign	Het
Mlst8	A	G	17: 24,476,153	F252S	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mogs	A	G	6: 83,117,315	K371R	probably benign	Het
Nsun2	T	C	13: 69,543,608		probably benign	Het
Otog	T	A	7: 46,305,508	C2702S	probably damaging	Het
Plekhg4	A	G	8: 105,380,388	E905G	probably damaging	Het
Rtn4rl1	T	C	11: 75,265,261	V173A	probably benign	Het
Sall3	T	C	18: 80,973,450	E421G	probably benign	Het
Setd6	G	A	8: 95,716,275		probably null	Het
Sh3tc1	T	C	5: 35,714,059		probably null	Het
Slc35f5	T	A	1: 125,562,513	Y71N	probably benign	Het
Snx1	A	G	9: 66,089,108		probably benign	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
Sspo	T	C	6: 48,495,155	V792A	probably benign	Het
Sufu	C	A	19: 46,473,599	D350E	probably benign	Het
Trav18	C	A	14: 53,831,569	Q23K	probably damaging	Het
Ugt1a1	AT	A	1: 88,212,371		probably null	Het
Usp17le	T	A	7: 104,769,104	H277L	probably benign	Het
Wdsub1	A	G	2: 59,876,829	S20P	probably damaging	Het

Other mutations in Bglap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02343:Bglap3	APN	3	88369116	missense	possibly damaging	0.90
R0496:Bglap3	UTSW	3	88369137	missense	probably damaging	0.98
R1435:Bglap3	UTSW	3	88369146	missense	possibly damaging	0.70
R1903:Bglap3	UTSW	3	88368761	missense	probably benign	0.01
R1970:Bglap3	UTSW	3	88376993	unclassified	probably benign
R2296:Bglap3	UTSW	3	88369512	unclassified	probably benign
R2326:Bglap3	UTSW	3	88369512	unclassified	probably benign
R2917:Bglap3	UTSW	3	88369512	unclassified	probably benign
R4967:Bglap3	UTSW	3	88376364	unclassified	probably benign
R5941:Bglap3	UTSW	3	88376346	unclassified	probably benign
R6259:Bglap3	UTSW	3	88368760	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GATTGAGTGTGAAGCCTTCCC -3'
(R):5'- GAAGAGGATGTGTGTACCCTG -3'

Sequencing Primer
(F):5'- TGGACAGACTCCAGCCCAG -3'
(R):5'- GTGTACCCTGTGTATATTAATGCCAC -3'

Posted On

2017-02-01