Incidental Mutation 'R1218:Bmp6'
ID 262446
Institutional Source Beutler Lab
Gene Symbol Bmp6
Ensembl Gene ENSMUSG00000039004
Gene Name bone morphogenetic protein 6
Synonyms Vgr1, D13Wsu115e
MMRRC Submission 039287-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1218 (G1)
Quality Score 116
Status Not validated
Chromosome 13
Chromosomal Location 38529098-38684283 bp(+) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG to ACAGCAGCAGCAGCAGCAGCAGCAGCAG at 38530226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171970]
AlphaFold P20722
Predicted Effect probably benign
Transcript: ENSMUST00000171970
SMART Domains Protein: ENSMUSP00000126999
Gene: ENSMUSG00000039004

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000224452
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 97.9%
  • 10x: 93.3%
  • 20x: 80.5%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C T 15: 81,948,353 (GRCm39) T750I probably benign Het
5330417H12Rik T C 7: 107,224,024 (GRCm39) probably benign Het
9230109A22Rik C T 15: 25,139,024 (GRCm39) noncoding transcript Het
Ahnak A G 19: 8,992,983 (GRCm39) K4756E probably damaging Het
Ano5 A T 7: 51,220,169 (GRCm39) probably null Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cbfa2t2 A T 2: 154,365,839 (GRCm39) M350L probably benign Het
Ceacam20 A T 7: 19,710,022 (GRCm39) M349L probably benign Het
Cfap91 A G 16: 38,118,495 (GRCm39) V768A probably benign Het
Chd1 G T 17: 15,945,574 (GRCm39) G33C probably damaging Het
Dhx40 A G 11: 86,690,310 (GRCm39) V237A probably benign Het
Dlst G T 12: 85,170,638 (GRCm39) D256Y probably damaging Het
Dmxl1 T A 18: 50,026,678 (GRCm39) S1929T probably damaging Het
Exosc10 T A 4: 148,654,858 (GRCm39) I551N probably damaging Het
Faap100 T C 11: 120,269,166 (GRCm39) D91G probably benign Het
Fbn1 T G 2: 125,254,669 (GRCm39) Q198P possibly damaging Het
Flrt2 A G 12: 95,745,727 (GRCm39) I22V probably benign Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
H2bc3 A G 13: 23,931,142 (GRCm39) Y122C probably benign Het
Inava A T 1: 136,142,140 (GRCm39) V653E probably damaging Het
Kcnn1 T C 8: 71,305,332 (GRCm39) I293V probably benign Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Mcpt9 G T 14: 56,266,125 (GRCm39) Y34* probably null Het
Mepe A T 5: 104,474,939 (GRCm39) M7L probably benign Het
Mprip A G 11: 59,634,640 (GRCm39) Y383C probably damaging Het
Mtrex G A 13: 113,054,156 (GRCm39) A159V probably damaging Het
Myh2 A T 11: 67,083,351 (GRCm39) D1438V probably damaging Het
Napb T C 2: 148,542,345 (GRCm39) Y205C probably damaging Het
Odf2l A G 3: 144,854,693 (GRCm39) D510G probably damaging Het
Olfml2b A G 1: 170,477,351 (GRCm39) D162G probably damaging Het
Oscp1 T C 4: 125,952,532 (GRCm39) V20A probably benign Het
Pcdhb10 T C 18: 37,546,214 (GRCm39) L430P probably damaging Het
Polq A G 16: 36,849,808 (GRCm39) D354G possibly damaging Het
Rims1 C A 1: 22,522,256 (GRCm39) V481F probably damaging Het
Ryr1 A G 7: 28,785,534 (GRCm39) I1719T possibly damaging Het
Smtn T C 11: 3,480,021 (GRCm39) H400R probably benign Het
Snx33 A G 9: 56,833,269 (GRCm39) Y267H probably damaging Het
Sstr1 T A 12: 58,260,406 (GRCm39) M343K possibly damaging Het
Stx6 T C 1: 155,077,737 (GRCm39) V248A probably benign Het
Tbx5 C T 5: 119,976,785 (GRCm39) L58F probably damaging Het
Tmem241 A G 18: 12,197,271 (GRCm39) Y186H probably damaging Het
Tnfaip8l3 T C 9: 53,934,760 (GRCm39) K72E probably damaging Het
Trrap T A 5: 144,753,219 (GRCm39) I1848N probably damaging Het
Xrcc6 G A 15: 81,907,142 (GRCm39) V155I probably benign Het
Zfp458 T C 13: 67,404,273 (GRCm39) E722G probably damaging Het
Zfyve1 G T 12: 83,594,825 (GRCm39) H722Q possibly damaging Het
Other mutations in Bmp6
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7681:Bmp6 UTSW 13 38,530,171 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-02-04