Mutagenetix > Incidental Mutations

Incidental Mutation 'R7348:Bmp6'

570377

Institutional Source

Beutler Lab

Gene Symbol

Bmp6

Ensembl Gene

ENSMUSG00000039004

Gene Name

bone morphogenetic protein 6

Synonyms

Vgr1, D13Wsu115e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7348 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38345107-38500302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38485903 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 388 (S388P)

Ref Sequence

ENSEMBL: ENSMUSP00000126999 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171970
AA Change: S388P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126999
Gene: ENSMUSG00000039004
AA Change: S388P

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
AA Change: S67P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	G	A	15: 41,866,159	R282C	probably damaging	Het
Adcy2	T	A	13: 68,734,675	E314D	possibly damaging	Het
Adgrl2	A	T	3: 148,817,766	I274N		Het
Adpgk	A	G	9: 59,313,786	I292V	probably benign	Het
Agtrap	G	T	4: 148,080,597	F124L	probably benign	Het
Ankrd26	A	G	6: 118,508,564	Y1450H	probably damaging	Het
Ap4e1	A	T	2: 127,061,976	S933C	probably damaging	Het
Ap4e1	G	T	2: 127,061,977	S933I	possibly damaging	Het
Ap5s1	A	T	2: 131,212,652	T128S	possibly damaging	Het
Arih1	T	C	9: 59,486,058	Y97C	probably damaging	Het
Atp1a3	A	G	7: 24,978,826	F1034S	unknown	Het
Ccdc39	A	G	3: 33,832,676	V261A	possibly damaging	Het
Ccdc66	C	T	14: 27,500,336	C150Y	probably damaging	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cln6	A	G	9: 62,849,176	S201G	probably benign	Het
Cntnap4	T	C	8: 112,665,277	Y125H	probably damaging	Het
Copa	A	G	1: 172,102,223	T286A	possibly damaging	Het
Cul9	A	T	17: 46,510,993	I1852K	possibly damaging	Het
Cyp2j8	C	A	4: 96,444,640	A490S	probably benign	Het
Cyp2t4	A	G	7: 27,157,251	I239V	probably benign	Het
E2f7	C	T	10: 110,780,975	T692I	probably damaging	Het
Fastkd5	A	G	2: 130,615,135	Y512H	probably damaging	Het
Fastkd5	A	C	2: 130,616,439	M77R	probably benign	Het
Fhod3	A	G	18: 25,090,467	R957G	possibly damaging	Het
Gm17018	A	G	19: 45,572,466	Y111C	probably damaging	Het
H6pd	C	A	4: 149,983,902		probably null	Het
Haus5	G	T	7: 30,656,966	P544Q	possibly damaging	Het
Ifi207	CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,729,196		probably benign	Het
Igf2r	A	G	17: 12,703,484	Y1248H	probably damaging	Het
Izumo3	T	C	4: 92,147,218	N6S	possibly damaging	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Map3k8	T	A	18: 4,340,561	H251L	probably damaging	Het
Mapre3	T	C	5: 30,861,829	Y6H	probably benign	Het
Mlh3	G	T	12: 85,267,441	P657Q	probably damaging	Het
Mrgpra1	T	C	7: 47,335,409	Y174C	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myh1	C	A	11: 67,202,539	P152Q	probably damaging	Het
Myh6	A	T	14: 54,952,259	L1110Q	probably damaging	Het
Nf1	T	A	11: 79,536,850	S1778T	probably benign	Het
Nkpd1	G	A	7: 19,524,416	E707K	probably damaging	Het
Nlrp4a	A	G	7: 26,444,273	E21G	probably damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Olfr1354	A	G	10: 78,917,562	T241A	probably damaging	Het
Olfr453	T	C	6: 42,744,856	L273S	possibly damaging	Het
Olfr488	T	C	7: 108,256,123	D5G	probably benign	Het
Olfr491	T	C	7: 108,317,713	V273A	possibly damaging	Het
Parg	G	A	14: 32,250,079	R677Q	possibly damaging	Het
Pcsk5	A	T	19: 17,456,818	C1395*	probably null	Het
Psd2	G	A	18: 35,980,336	S287N	possibly damaging	Het
Psd3	T	C	8: 67,790,931	N685S	possibly damaging	Het
Pygb	C	T	2: 150,786,983	T39M	probably benign	Het
Rbfox1	C	A	16: 7,408,024	Y351*	probably null	Het
Rftn1	A	G	17: 50,004,323	L396P	probably damaging	Het
S1pr1	A	G	3: 115,712,061	Y295H	probably damaging	Het
Scn5a	T	C	9: 119,535,833	M440V	probably benign	Het
Sel1l2	T	C	2: 140,265,724	N240S	probably benign	Het
Skint1	T	C	4: 112,021,573	L234P	probably damaging	Het
Skint11	T	A	4: 114,244,722	Y311N	probably benign	Het
Slc6a5	A	T	7: 49,910,167		probably benign	Het
Tas2r134	T	C	2: 51,628,402	S298P	possibly damaging	Het
Tbcd	C	A	11: 121,594,311	A773D	probably benign	Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tmem184a	T	C	5: 139,814,054	E24G	probably null	Het
Tmem207	C	A	16: 26,516,827	W53C	possibly damaging	Het
Tns1	T	A	1: 73,916,917	H549L	possibly damaging	Het
Ttc37	T	C	13: 76,182,884	F1478L	possibly damaging	Het
Ttc41	G	T	10: 86,750,348	E839*	probably null	Het
Ufd1	T	G	16: 18,815,885		probably benign	Het
Usp28	A	G	9: 49,030,877	E713G	probably benign	Het
Utrn	A	G	10: 12,748,018	W159R	probably damaging	Het
Vcl	C	T	14: 21,003,150	A411V	probably benign	Het
Vcl	T	A	14: 21,008,952	C545*	probably null	Het
Vmn1r120	A	T	7: 21,053,452	S111R	probably damaging	Het
Wwox	T	A	8: 114,472,652	C146S	probably benign	Het
Zbtb2	T	C	10: 4,374,574	T57A	possibly damaging	Het
Zfp362	T	C	4: 128,777,217	D336G	possibly damaging	Het
Zfp628	G	A	7: 4,921,818	G1013E	probably damaging	Het
Zfp704	A	G	3: 9,474,598	S231P	probably damaging	Het
Zhx3	G	T	2: 160,782,118	S43*	probably null	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
R5208:Bmp6	UTSW	13	38469697	missense	probably benign	0.23
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
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'- GGTTTGCATTAAAGGACTCCACG -3'
(R):5'- TGGGCTACAGTGCTCTATGG -3'

Sequencing Primer
(F):5'- TTTGCATTAAAGGACTCCACGTCAAC -3'
(R):5'- GGGATCCCATACAGGTTATCTAC -3'

Posted On

2019-09-13