Incidental Mutation 'IGL01823:Bmp6'
ID154589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmp6
Ensembl Gene ENSMUSG00000039004
Gene Namebone morphogenetic protein 6
SynonymsVgr1, D13Wsu115e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01823
Quality Score
Status
Chromosome13
Chromosomal Location38345107-38500302 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 38498822 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 460 (T460A)
Ref Sequence ENSEMBL: ENSMUSP00000126999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035988] [ENSMUST00000160653] [ENSMUST00000162075] [ENSMUST00000171970]
Predicted Effect probably benign
Transcript: ENSMUST00000035988
SMART Domains Protein: ENSMUSP00000041839
Gene: ENSMUSG00000038991

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Thioredoxin 49 153 5.3e-28 PFAM
low complexity region 156 172 N/A INTRINSIC
Pfam:Thioredoxin 176 279 2.8e-30 PFAM
Pfam:Thioredoxin 308 412 6.2e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160046
Predicted Effect probably benign
Transcript: ENSMUST00000160653
SMART Domains Protein: ENSMUSP00000124401
Gene: ENSMUSG00000038991

DomainStartEndE-ValueType
Pfam:Thioredoxin 1 80 6.3e-22 PFAM
low complexity region 83 99 N/A INTRINSIC
Pfam:Thioredoxin 103 206 4.2e-31 PFAM
Pfam:Thioredoxin 235 339 3.9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162075
SMART Domains Protein: ENSMUSP00000124516
Gene: ENSMUSG00000038991

DomainStartEndE-ValueType
Pfam:Thioredoxin 1 59 1.5e-13 PFAM
low complexity region 62 78 N/A INTRINSIC
Pfam:Thioredoxin 82 185 5e-31 PFAM
Pfam:Thioredoxin 214 318 4.6e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171970
AA Change: T460A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126999
Gene: ENSMUSG00000039004
AA Change: T460A

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
Coding Region Coverage
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd209a T C 8: 3,748,851 probably benign Het
Dock2 A G 11: 34,262,391 L1250P probably damaging Het
Evc T C 5: 37,328,521 N104D probably damaging Het
Fam161a A T 11: 23,015,785 E26V probably damaging Het
Foxa3 T C 7: 19,014,518 T228A probably benign Het
Gm8206 A T 14: 6,017,078 D133E probably benign Het
Ighv1-15 T A 12: 114,657,592 T38S probably benign Het
Ikzf1 A G 11: 11,769,091 D266G possibly damaging Het
Man2a1 T C 17: 64,666,824 I365T probably damaging Het
Mcm4 T C 16: 15,626,131 D756G probably damaging Het
Mroh9 G A 1: 163,055,609 L434F probably benign Het
Olfr1342 A G 4: 118,689,721 C244R probably damaging Het
Olfr297 T C 7: 86,527,041 C95R probably damaging Het
Phldb2 T A 16: 45,825,144 Y313F probably damaging Het
Psd4 A G 2: 24,394,432 S103G probably benign Het
Ripk4 T C 16: 97,755,283 I87V possibly damaging Het
Scn9a A T 2: 66,484,042 F1766L probably damaging Het
Slc10a5 A T 3: 10,334,514 V362D possibly damaging Het
Slc12a3 A G 8: 94,357,096 D917G probably benign Het
Slc30a4 A G 2: 122,702,092 V110A probably damaging Het
Slc30a8 A G 15: 52,295,962 probably benign Het
Slc5a8 T A 10: 88,919,472 C480* probably null Het
Tmppe A G 9: 114,405,107 K158R probably benign Het
Tubb6 A G 18: 67,402,273 N414S probably damaging Het
Wnt8a A T 18: 34,544,793 T85S possibly damaging Het
Other mutations in Bmp6
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
R7917:Bmp6 UTSW 13 38469667 missense probably damaging 1.00
Posted On2014-02-04