Mutagenetix > Incidental Mutations

Incidental Mutation 'R5208:Bmp6'

402174

Institutional Source

Beutler Lab

Gene Symbol

Bmp6

Ensembl Gene

ENSMUSG00000039004

Gene Name

bone morphogenetic protein 6

Synonyms

Vgr1, D13Wsu115e

MMRRC Submission

042783-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5208 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38345107-38500302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38469697 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 247 (A247T)

Ref Sequence

ENSEMBL: ENSMUSP00000126999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171970] [ENSMUST00000223628]

Predicted Effect

probably benign
Transcript: ENSMUST00000171970
AA Change: A247T

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126999
Gene: ENSMUSG00000039004
AA Change: A247T

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:TGFb_propeptide	56	359	2.3e-100	PFAM
low complexity region	368	389	N/A	INTRINSIC
TGFB	409	510	6.8e-71	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000223628

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Mice lacking this gene exhibit delayed ossification of the sternum, iron overload, and reduced fertility in females. [provided by RefSeq, Jul 2016]
PHENOTYPE: One homozygous null mutant showed delayed ossification in the developing sternum while females of a second null mutant were smaller than normal in size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	C	A	7: 140,298,036	A977D	probably benign	Het
Aadacl4	A	T	4: 144,617,828	N58I	probably benign	Het
Adgra3	T	C	5: 50,011,515	D163G	probably damaging	Het
Alcam	C	A	16: 52,295,048	E236*	probably null	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Aplf	G	T	6: 87,642,026		probably null	Het
Arl4a	A	T	12: 40,036,745	M1K	probably null	Het
Asic4	A	G	1: 75,451,226	D132G	probably damaging	Het
Bbs12	T	C	3: 37,320,273	I290T	probably benign	Het
BC024139	A	G	15: 76,124,665	S290P	probably benign	Het
Cadps	A	G	14: 12,457,711	S1057P	possibly damaging	Het
Caprin1	A	C	2: 103,769,433		probably null	Het
Cdc42bpg	G	A	19: 6,321,720	R1343K	probably benign	Het
Cdk18	A	T	1: 132,117,480		probably null	Het
Cenpf	A	T	1: 189,671,046		probably null	Het
Cfhr1	A	T	1: 139,556,330		probably null	Het
Chn2	A	T	6: 54,295,801	I201F	probably damaging	Het
Chrdl2	A	G	7: 100,023,922	D175G	probably damaging	Het
Disp2	G	T	2: 118,791,805	R1006L	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnah3	C	G	7: 120,032,638	D1365H	probably damaging	Het
Efcab8	T	A	2: 153,802,423	Y372*	probably null	Het
Eftud2	G	A	11: 102,841,185	P768S	probably damaging	Het
Ehmt1	A	C	2: 24,801,533	S1170A	probably benign	Het
Gdpd4	A	C	7: 98,014,911	K572Q	probably benign	Het
Gm7356	T	C	17: 14,001,194	E191G	probably damaging	Het
Gm8674	A	T	13: 49,901,921		noncoding transcript	Het
Gulp1	T	G	1: 44,781,039	H235Q	probably benign	Het
Hormad1	T	C	3: 95,578,107	V202A	possibly damaging	Het
Inpp5b	G	A	4: 124,751,317	D179N	possibly damaging	Het
Kcnk4	T	A	19: 6,927,701	Y194F	possibly damaging	Het
Lars	A	C	18: 42,217,557	S896A	probably benign	Het
Lonp1	A	G	17: 56,617,793	V538A	probably damaging	Het
Map3k14	A	T	11: 103,239,146	L315Q	probably damaging	Het
Met	T	A	6: 17,526,423	Y500*	probably null	Het
Mga	T	G	2: 119,947,981	I2093M	possibly damaging	Het
Mpl	T	G	4: 118,455,881	I152L	probably benign	Het
Mthfsd	G	A	8: 121,108,319		probably benign	Het
Mup4	A	G	4: 59,958,119	F150L	probably damaging	Het
Mybph	T	A	1: 134,193,535	V11D	probably benign	Het
Olfr1278	A	T	2: 111,292,601	E111V	probably damaging	Het
Olfr668	A	G	7: 104,925,726	F13L	probably benign	Het
Olfr988	T	A	2: 85,353,798	I43F	probably benign	Het
Pde4a	T	C	9: 21,203,558		probably null	Het
Pex2	C	T	3: 5,561,368	R127H	probably benign	Het
Pgap3	A	G	11: 98,398,048	W94R	probably damaging	Het
Prl4a1	T	C	13: 28,018,484	V14A	probably benign	Het
Psg25	A	T	7: 18,526,535	I146N	probably benign	Het
Ptprn2	A	G	12: 116,858,928	Y209C	probably damaging	Het
Sema4c	T	A	1: 36,550,326	D573V	probably damaging	Het
Setx	A	T	2: 29,166,367	I2192F	possibly damaging	Het
Sp4	A	G	12: 118,299,546	L255P	probably damaging	Het
Spaca7	A	G	8: 12,586,456	Y94C	probably damaging	Het
Stt3a	T	G	9: 36,746,595	I390L	possibly damaging	Het
Tars2	A	G	3: 95,747,593	W128R	probably damaging	Het
Tll1	G	A	8: 64,051,493	T623M	probably damaging	Het
Tmem129	A	T	5: 33,655,506	V166E	probably damaging	Het
Tmem200a	T	A	10: 25,994,153	I73F	probably benign	Het
Tnks1bp1	T	C	2: 85,070,632	M1561T	probably damaging	Het
Ttc37	G	A	13: 76,147,767	E1050K	possibly damaging	Het
Zfat	A	T	15: 68,180,721	I401N	probably damaging	Het
Zfp142	A	T	1: 74,570,868	V1153E	probably benign	Het
Zwilch	T	C	9: 64,152,923	I354V	probably benign	Het

Other mutations in Bmp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Bmp6	APN	13	38469634	missense	probably damaging	0.99
IGL01409:Bmp6	APN	13	38485889	missense	probably damaging	1.00
IGL01646:Bmp6	APN	13	38498928	missense	probably damaging	0.99
IGL01823:Bmp6	APN	13	38498822	missense	probably damaging	1.00
IGL03000:Bmp6	APN	13	38498911	splice site	probably benign
IGL03337:Bmp6	APN	13	38498943	missense	probably damaging	1.00
PIT4431001:Bmp6	UTSW	13	38485930	missense	probably benign
R1218:Bmp6	UTSW	13	38346250	small deletion	probably benign
R1225:Bmp6	UTSW	13	38346281	missense	probably benign
R4579:Bmp6	UTSW	13	38469725	missense	probably damaging	1.00
R4834:Bmp6	UTSW	13	38485841	missense	probably damaging	1.00
R5713:Bmp6	UTSW	13	38498952	missense	probably damaging	1.00
R5842:Bmp6	UTSW	13	38346567	missense	probably damaging	0.99
R6319:Bmp6	UTSW	13	38346414	missense	probably benign	0.28
R7348:Bmp6	UTSW	13	38485903	missense	probably benign	0.00
R7565:Bmp6	UTSW	13	38346257	nonsense	probably null
R7669:Bmp6	UTSW	13	38484920	missense	probably damaging	0.98
R7681:Bmp6	UTSW	13	38346195	missense	probably damaging	1.00
R7834:Bmp6	UTSW	13	38469667	missense	probably damaging	1.00
R8219:Bmp6	UTSW	13	38345987	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CGCTGGTAACTGGTGGTAATC -3'
(R):5'- CACCTTCCAGAGACACCTGATG -3'

Sequencing Primer
(F):5'- CTGGTGGTAATCTGTGAAGTAAAAC -3'
(R):5'- CTGATGCTCCTGCAAGA -3'

Posted On

2016-07-22