Incidental Mutation 'IGL00733:Bmp8b'
ID 9278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmp8b
Ensembl Gene ENSMUSG00000002384
Gene Name bone morphogenetic protein 8b
Synonyms Op3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # IGL00733
Quality Score
Status
Chromosome 4
Chromosomal Location 122998101-123019887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123018202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 358 (I358F)
Ref Sequence ENSEMBL: ENSMUSP00000002457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002457] [ENSMUST00000030404]
AlphaFold P55105
Predicted Effect probably benign
Transcript: ENSMUST00000002457
AA Change: I358F

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000002457
Gene: ENSMUSG00000002384
AA Change: I358F

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:TGFb_propeptide 26 248 2.7e-62 PFAM
TGFB 298 399 2.83e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000030404
SMART Domains Protein: ENSMUSP00000030404
Gene: ENSMUSG00000028651

DomainStartEndE-ValueType
RRM 7 80 1.36e-25 SMART
low complexity region 111 131 N/A INTRINSIC
Pfam:Pro_isomerase 143 299 1.6e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151850
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. The encoded protein may play a role in the generation of primordial germ cells, and has been shown to stimulate thermogenesis in brown adipose tissue. Male mice lacking a functional copy of this gene exhibit variable degrees of germ-cell deficiency. Homozygous knockout mice of both sexes exhibit impaired thermogenesis and reduced metabolic rate, resulting in weight gain. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 4. [provided by RefSeq, Jul 2016]
PHENOTYPE: Incidence of lethality among homozygous null mutants is variable depending on genetic background and due to allantoic and embryonic abnormalities. Heterozygous and surviving homozygous males exhibit varying degrees of germ cell deficiency and infertility, also background dependent. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clstn2 A G 9: 97,365,102 (GRCm39) V468A probably damaging Het
Ets1 T A 9: 32,664,222 (GRCm39) probably benign Het
Kcnj15 G A 16: 95,097,322 (GRCm39) E315K probably damaging Het
Lmo7 T A 14: 102,153,138 (GRCm39) S950T probably damaging Het
Nlrp12 T C 7: 3,289,387 (GRCm39) Y375C probably damaging Het
Snx29 C T 16: 11,221,366 (GRCm39) T264I probably damaging Het
Zfp229 A T 17: 21,958,483 (GRCm39) N7I possibly damaging Het
Other mutations in Bmp8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0334:Bmp8b UTSW 4 123,008,553 (GRCm39) splice site probably null
R0441:Bmp8b UTSW 4 123,018,308 (GRCm39) missense probably damaging 1.00
R0472:Bmp8b UTSW 4 123,015,692 (GRCm39) missense probably benign 0.06
R0609:Bmp8b UTSW 4 123,015,692 (GRCm39) missense probably benign 0.06
R0732:Bmp8b UTSW 4 122,999,199 (GRCm39) missense unknown
R1221:Bmp8b UTSW 4 123,008,504 (GRCm39) missense probably damaging 1.00
R2200:Bmp8b UTSW 4 123,016,815 (GRCm39) missense possibly damaging 0.81
R3847:Bmp8b UTSW 4 123,009,961 (GRCm39) unclassified probably benign
R4003:Bmp8b UTSW 4 123,015,671 (GRCm39) unclassified probably benign
R4777:Bmp8b UTSW 4 123,015,793 (GRCm39) missense possibly damaging 0.61
R4834:Bmp8b UTSW 4 123,016,843 (GRCm39) missense probably damaging 1.00
R4911:Bmp8b UTSW 4 123,009,030 (GRCm39) missense probably damaging 1.00
R5207:Bmp8b UTSW 4 123,009,714 (GRCm39) unclassified probably benign
R5509:Bmp8b UTSW 4 123,008,369 (GRCm39) missense possibly damaging 0.78
R5549:Bmp8b UTSW 4 123,018,278 (GRCm39) missense probably damaging 1.00
R5795:Bmp8b UTSW 4 123,015,761 (GRCm39) missense possibly damaging 0.59
R6142:Bmp8b UTSW 4 123,009,043 (GRCm39) missense probably benign
R7549:Bmp8b UTSW 4 122,999,448 (GRCm39) missense possibly damaging 0.61
R7712:Bmp8b UTSW 4 123,018,257 (GRCm39) missense possibly damaging 0.90
R8245:Bmp8b UTSW 4 123,008,532 (GRCm39) missense probably benign 0.01
R9788:Bmp8b UTSW 4 122,999,369 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06