Mutagenetix > Incidental Mutation

Incidental Mutation 'R7681:Bmp6'

592780

Institutional Source

Beutler Lab

Gene Symbol

Bmp6

Ensembl Gene

ENSMUSG00000039004

Gene Name

bone morphogenetic protein 6

Synonyms

Vgr1, D13Wsu115e

MMRRC Submission

045747-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7681 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38529098-38684283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38530171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 88 (H88R)

Ref Sequence

ENSEMBL: ENSMUSP00000126999 (fasta)

Gene Model

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

AlphaFold

P20722

Predicted Effect

probably damaging
Transcript: ENSMUST00000171970
AA Change: H88R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126999
Gene: ENSMUSG00000039004
AA Change: H88R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (58/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,899,619 (GRCm39)	A963V	probably benign	Het
Agbl1	T	C	7: 76,094,649 (GRCm39)	V760A	unknown	Het
Akap13	T	C	7: 75,378,544 (GRCm39)	F347L	possibly damaging	Het
Anapc5	A	T	5: 122,940,202 (GRCm39)	F356L	probably benign	Het
Cblb	C	A	16: 52,025,001 (GRCm39)	S921R	probably damaging	Het
Ccs	T	A	19: 4,882,858 (GRCm39)		probably null	Het
Cyp20a1	A	G	1: 60,392,192 (GRCm39)	T83A	probably benign	Het
Defa25	T	A	8: 21,574,535 (GRCm39)	D26E	probably benign	Het
Dmwd	T	A	7: 18,815,007 (GRCm39)	N552K	probably benign	Het
Dnah17	C	T	11: 117,916,012 (GRCm39)	V4297M	probably damaging	Het
Fam135a	A	T	1: 24,106,996 (GRCm39)	S47R	probably benign	Het
Fbxo41	A	T	6: 85,455,461 (GRCm39)	C574*	probably null	Het
Fgb	T	C	3: 82,957,139 (GRCm39)		probably benign	Het
Fgfr1	C	T	8: 26,045,677 (GRCm39)	T82I	probably damaging	Het
Fhod3	T	A	18: 25,123,095 (GRCm39)	L262M	probably damaging	Het
Galnt16	A	T	12: 80,637,413 (GRCm39)	Q380L	probably damaging	Het
Glp2r	C	T	11: 67,600,505 (GRCm39)	G448D	probably benign	Het
Gnb4	C	A	3: 32,641,902 (GRCm39)	A242S	possibly damaging	Het
Golim4	T	C	3: 75,794,331 (GRCm39)		probably null	Het
Grik2	G	T	10: 49,120,476 (GRCm39)	N604K	probably damaging	Het
Hnf1b	T	G	11: 83,779,972 (GRCm39)	I435S	probably damaging	Het
Hoxa11	C	T	6: 52,222,099 (GRCm39)	G201S	probably benign	Het
Hpse	A	G	5: 100,839,257 (GRCm39)	S364P	possibly damaging	Het
Kif16b	A	T	2: 142,598,046 (GRCm39)	N525K	probably damaging	Het
Kif1a	A	T	1: 92,982,666 (GRCm39)	C704S	probably benign	Het
Limk2	A	G	11: 3,303,354 (GRCm39)	S322P	probably damaging	Het
Lrp1b	A	T	2: 40,765,011 (GRCm39)	C2938*	probably null	Het
Malrd1	A	G	2: 16,222,913 (GRCm39)	R2071G	unknown	Het
Man2a2	T	A	7: 80,001,497 (GRCm39)	I1137F	possibly damaging	Het
Map2k6	C	T	11: 110,388,729 (GRCm39)	R224*	probably null	Het
Map3k4	G	A	17: 12,537,430 (GRCm39)	P29L	unknown	Het
Morn5	A	T	2: 35,947,156 (GRCm39)	N145Y	possibly damaging	Het
Muc20	T	C	16: 32,613,989 (GRCm39)	T463A	probably benign	Het
Myh10	C	T	11: 68,662,762 (GRCm39)	T642I	probably damaging	Het
Myh14	C	A	7: 44,273,572 (GRCm39)	R1362L	possibly damaging	Het
Nup88	C	A	11: 70,860,711 (GRCm39)	V23L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or13p8	A	G	4: 118,583,761 (GRCm39)	I106V	probably benign	Het
Or4c116	A	C	2: 88,941,935 (GRCm39)	V307G	probably benign	Het
Or5p56	T	C	7: 107,590,355 (GRCm39)	M261T	possibly damaging	Het
Pabpn1	T	C	14: 55,135,499 (GRCm39)	Y299H	probably damaging	Het
Pak4	T	C	7: 28,259,655 (GRCm39)	E514G	probably damaging	Het
Ppp1r12b	A	C	1: 134,793,673 (GRCm39)	S564A	probably benign	Het
Psmc2	T	C	5: 22,008,272 (GRCm39)		probably null	Het
Psme4	A	G	11: 30,741,975 (GRCm39)	Y146C	possibly damaging	Het
Rb1cc1	A	G	1: 6,310,547 (GRCm39)	D315G	probably damaging	Het
Rilpl1	A	G	5: 124,668,976 (GRCm39)	V24A	possibly damaging	Het
Rtel1	A	T	2: 180,964,187 (GRCm39)	H62L	probably damaging	Het
Ruvbl1	G	A	6: 88,444,635 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,359,043 (GRCm39)	V668A	probably benign	Het
Slc22a6	G	A	19: 8,603,493 (GRCm39)	G519E	probably benign	Het
Slc43a2	T	A	11: 75,454,499 (GRCm39)	I348N	probably benign	Het
Slc6a16	T	A	7: 44,910,338 (GRCm39)	L347Q	probably damaging	Het
Smg6	T	A	11: 74,822,531 (GRCm39)	L658H	probably damaging	Het
Spata31e4	C	T	13: 50,856,290 (GRCm39)	P643S	possibly damaging	Het
Spidr	C	A	16: 15,713,488 (GRCm39)	G832W	probably damaging	Het
Ssrp1	G	A	2: 84,876,092 (GRCm39)	G616E	probably benign	Het
Sult1b1	G	A	5: 87,678,495 (GRCm39)	L110F	probably damaging	Het
Tfec	T	A	6: 16,834,235 (GRCm39)	H224L	probably benign	Het
Ttn	C	T	2: 76,539,295 (GRCm39)	E34564K	probably benign	Het
Washc2	A	G	6: 116,237,618 (GRCm39)	D1285G	probably damaging	Het
Zfp870	T	C	17: 33,101,664 (GRCm39)	E555G	probably benign	Het

Other mutations in Bmp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Bmp6	APN	13	38,653,610 (GRCm39)	missense	probably damaging	0.99
IGL01409:Bmp6	APN	13	38,669,865 (GRCm39)	missense	probably damaging	1.00
IGL01646:Bmp6	APN	13	38,682,904 (GRCm39)	missense	probably damaging	0.99
IGL01823:Bmp6	APN	13	38,682,798 (GRCm39)	missense	probably damaging	1.00
IGL03000:Bmp6	APN	13	38,682,887 (GRCm39)	splice site	probably benign
IGL03337:Bmp6	APN	13	38,682,919 (GRCm39)	missense	probably damaging	1.00
Inkwell	UTSW	13	38,682,795 (GRCm39)	nonsense	probably null
Pigtail	UTSW	13	38,668,896 (GRCm39)	missense	probably damaging	0.98
PIT4431001:Bmp6	UTSW	13	38,669,906 (GRCm39)	missense	probably benign
R1218:Bmp6	UTSW	13	38,530,226 (GRCm39)	small deletion	probably benign
R1225:Bmp6	UTSW	13	38,530,257 (GRCm39)	missense	probably benign
R4579:Bmp6	UTSW	13	38,653,701 (GRCm39)	missense	probably damaging	1.00
R4834:Bmp6	UTSW	13	38,669,817 (GRCm39)	missense	probably damaging	1.00
R5208:Bmp6	UTSW	13	38,653,673 (GRCm39)	missense	probably benign	0.23
R5713:Bmp6	UTSW	13	38,682,928 (GRCm39)	missense	probably damaging	1.00
R5842:Bmp6	UTSW	13	38,530,543 (GRCm39)	missense	probably damaging	0.99
R6319:Bmp6	UTSW	13	38,530,390 (GRCm39)	missense	probably benign	0.28
R7348:Bmp6	UTSW	13	38,669,879 (GRCm39)	missense	probably benign	0.00
R7565:Bmp6	UTSW	13	38,530,233 (GRCm39)	nonsense	probably null
R7669:Bmp6	UTSW	13	38,668,896 (GRCm39)	missense	probably damaging	0.98
R7834:Bmp6	UTSW	13	38,653,643 (GRCm39)	missense	probably damaging	1.00
R8219:Bmp6	UTSW	13	38,529,963 (GRCm39)	missense	unknown
R8842:Bmp6	UTSW	13	38,682,795 (GRCm39)	nonsense	probably null
R8842:Bmp6	UTSW	13	38,530,359 (GRCm39)	missense	probably benign	0.24
R9048:Bmp6	UTSW	13	38,682,778 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACACACCTGGCTCACTCAG -3'
(R):5'- TTCGTCGTCATTGGACAGGG -3'

Sequencing Primer
(F):5'- CCGCGGATGACCATGAGAG -3'
(R):5'- GCGTTGTAGAGATCCAGCATG -3'

Posted On

2019-11-12