Incidental Mutation 'R6319:Bmp6'
ID 509350
Institutional Source Beutler Lab
Gene Symbol Bmp6
Ensembl Gene ENSMUSG00000039004
Gene Name bone morphogenetic protein 6
Synonyms Vgr1, D13Wsu115e
MMRRC Submission 044474-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6319 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 38529098-38684283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38530390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 161 (H161L)
Ref Sequence ENSEMBL: ENSMUSP00000126999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171970]
AlphaFold P20722
Predicted Effect probably benign
Transcript: ENSMUST00000171970
AA Change: H161L

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126999
Gene: ENSMUSG00000039004
AA Change: H161L

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.8%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T C 6: 58,651,723 (GRCm39) S372P probably benign Het
Adam34 A G 8: 44,104,952 (GRCm39) I231T probably benign Het
Adgrg6 T A 10: 14,307,366 (GRCm39) H840L probably damaging Het
Akap11 T C 14: 78,750,978 (GRCm39) T470A probably benign Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
B430306N03Rik A T 17: 48,623,771 (GRCm39) Q24L probably damaging Het
Cdca8 C A 4: 124,815,087 (GRCm39) D177Y possibly damaging Het
Col14a1 A G 15: 55,379,565 (GRCm39) T1693A probably damaging Het
Cpsf1 A G 15: 76,481,167 (GRCm39) S1230P probably damaging Het
Dcaf13 A G 15: 39,007,067 (GRCm39) T334A probably benign Het
Dhx32 A C 7: 133,338,955 (GRCm39) V360G probably damaging Het
Dmxl1 A G 18: 49,985,367 (GRCm39) T205A probably benign Het
Dxo A G 17: 35,057,367 (GRCm39) E253G probably damaging Het
Enpp1 T C 10: 24,523,929 (GRCm39) Y747C probably damaging Het
Gga2 T C 7: 121,601,389 (GRCm39) E238G possibly damaging Het
Gpn3 C T 5: 122,510,638 (GRCm39) probably benign Het
Grik4 A T 9: 42,477,632 (GRCm39) M518K probably damaging Het
Igf2r T A 17: 12,933,000 (GRCm39) S841C probably damaging Het
Itfg1 G T 8: 86,567,258 (GRCm39) T37K probably damaging Het
Kcnn4 T A 7: 24,081,165 (GRCm39) M301K possibly damaging Het
Kel C A 6: 41,679,381 (GRCm39) E127D probably benign Het
Lrp4 A G 2: 91,310,666 (GRCm39) Y569C probably damaging Het
Lrp6 A T 6: 134,518,798 (GRCm39) V89D possibly damaging Het
Mical2 A G 7: 111,927,884 (GRCm39) D674G possibly damaging Het
Mnd1 A G 3: 84,049,071 (GRCm39) S2P possibly damaging Het
Neb T A 2: 52,053,023 (GRCm39) probably null Het
Or51af1 T C 7: 103,141,932 (GRCm39) E51G possibly damaging Het
Or5h23 A G 16: 58,906,384 (GRCm39) I154T probably benign Het
Or8g17 A G 9: 38,930,810 (GRCm39) V9A probably damaging Het
Pcca G A 14: 122,820,035 (GRCm39) V60M probably damaging Het
Plekhm3 A T 1: 64,961,093 (GRCm39) Y388N probably benign Het
Prr18 G T 17: 8,560,143 (GRCm39) V100F probably damaging Het
Rnf25 T C 1: 74,634,890 (GRCm39) Y44C probably damaging Het
Smg6 T C 11: 75,047,048 (GRCm39) L1247P probably damaging Het
Spata31e2 G A 1: 26,724,482 (GRCm39) R233C probably benign Het
Tdh T C 14: 63,733,186 (GRCm39) T137A probably benign Het
Tmem200a A G 10: 25,869,393 (GRCm39) V292A probably damaging Het
Ubr3 T C 2: 69,803,758 (GRCm39) V1116A probably benign Het
Ubr4 G A 4: 139,136,200 (GRCm39) E942K possibly damaging Het
Unc5b G A 10: 60,614,580 (GRCm39) A239V probably damaging Het
Vill G C 9: 118,892,716 (GRCm39) Q376H probably benign Het
Vmn2r115 A G 17: 23,566,877 (GRCm39) E463G 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
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
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 PCR Primer
(F):5'- AGGAGATCCTGTCGGTGCTG -3'
(R):5'- GGTTCACAAAGCTCATGACC -3'

Sequencing Primer
(F):5'- TGCACGGTCTCCAGCAG -3'
(R):5'- GGTTCACAAAGCTCATGACCATGTC -3'
Posted On 2018-04-02