Incidental Mutation 'IGL03000:Bmp6'
ID 407303
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmp6
Ensembl Gene ENSMUSG00000039004
Gene Name bone morphogenetic protein 6
Synonyms Vgr1, D13Wsu115e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03000
Quality Score
Status
Chromosome 13
Chromosomal Location 38529098-38684283 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 38682887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035988] [ENSMUST00000160653] [ENSMUST00000162075] [ENSMUST00000171970]
AlphaFold P20722
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 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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,360,959 (GRCm39) S445G probably benign Het
Abca5 C T 11: 110,208,640 (GRCm39) V226I probably benign Het
Ankrd34c A T 9: 89,611,239 (GRCm39) D367E probably benign Het
Cacna2d2 T C 9: 107,401,397 (GRCm39) probably null Het
Cblb T G 16: 52,024,905 (GRCm39) D933E probably damaging Het
Ccny A G 18: 9,353,489 (GRCm39) S95P probably benign Het
Cep192 A G 18: 67,985,115 (GRCm39) I1658V probably damaging Het
Cntn6 A T 6: 104,781,347 (GRCm39) T478S probably damaging Het
Cpne7 T C 8: 123,853,435 (GRCm39) F247L probably benign Het
Csf1r A G 18: 61,242,724 (GRCm39) E29G probably damaging Het
Dctn3 T A 4: 41,719,912 (GRCm39) I65F possibly damaging Het
Dock1 A G 7: 134,390,969 (GRCm39) E743G probably benign Het
Dus2 C A 8: 106,775,316 (GRCm39) T281N probably damaging Het
Gbx1 G T 5: 24,709,924 (GRCm39) T307K probably benign Het
Gtf2ird2 A T 5: 134,223,745 (GRCm39) N93I probably benign Het
Heatr1 A G 13: 12,449,292 (GRCm39) D1930G probably damaging Het
Hif3a T C 7: 16,782,564 (GRCm39) I334V probably benign Het
Ints1 G T 5: 139,752,261 (GRCm39) N756K probably benign Het
Kcnn2 T C 18: 45,693,635 (GRCm39) F404L probably damaging Het
Kmt2c G A 5: 25,489,170 (GRCm39) R4590W probably damaging Het
Limk1 A T 5: 134,699,355 (GRCm39) V134E probably damaging Het
Mep1a A G 17: 43,785,881 (GRCm39) V736A probably benign Het
Mex3a T A 3: 88,443,602 (GRCm39) I226N probably damaging Het
Mgl2 A T 11: 70,025,026 (GRCm39) K16* probably null Het
Mms22l G T 4: 24,581,161 (GRCm39) V864L probably damaging Het
Mroh4 T A 15: 74,487,963 (GRCm39) M320L probably benign Het
Mylk3 G A 8: 86,085,806 (GRCm39) P243S probably damaging Het
Nbea A C 3: 55,912,048 (GRCm39) D1246E possibly damaging Het
Ndnf A G 6: 65,680,299 (GRCm39) T193A possibly damaging Het
Nfasc T C 1: 132,549,247 (GRCm39) probably benign Het
Or6k8-ps1 A G 1: 173,979,126 (GRCm39) T15A probably benign Het
Ptprq A T 10: 107,378,518 (GRCm39) F2008I probably damaging Het
Rhag A G 17: 41,139,413 (GRCm39) K116R probably benign Het
Rictor T A 15: 6,798,721 (GRCm39) probably benign Het
Slc35f5 C A 1: 125,502,479 (GRCm39) T277N probably damaging Het
Sorcs2 A G 5: 36,222,675 (GRCm39) probably benign Het
Ssh2 T A 11: 77,312,032 (GRCm39) probably benign Het
Togaram2 T C 17: 72,024,365 (GRCm39) S830P probably benign Het
Trim30d T C 7: 104,122,476 (GRCm39) T112A probably benign Het
Ttc34 T C 4: 154,949,888 (GRCm39) V947A probably damaging Het
Ttn A G 2: 76,642,953 (GRCm39) probably benign Het
Ubr5 A T 15: 38,025,096 (GRCm39) V560D probably damaging Het
Ush2a A T 1: 188,282,053 (GRCm39) E1856V possibly damaging Het
Zfp142 T C 1: 74,612,777 (GRCm39) M457V probably benign Het
Zfp711 C T X: 111,534,555 (GRCm39) Q137* probably null Het
Zkscan17 T C 11: 59,377,986 (GRCm39) Y399C probably damaging Het
Zswim6 T G 13: 107,863,649 (GRCm39) noncoding transcript Het
Zswim6 T A 13: 107,863,650 (GRCm39) noncoding transcript 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
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
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
Posted On 2016-08-02