Incidental Mutation 'IGL02308:Gdf11'
ID 287701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdf11
Ensembl Gene ENSMUSG00000025352
Gene Name growth differentiation factor 11
Synonyms Bmp11
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02308
Quality Score
Status
Chromosome 10
Chromosomal Location 128718164-128727587 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128721253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 314 (Y314H)
Ref Sequence ENSEMBL: ENSMUSP00000026408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026408]
AlphaFold Q9Z1W4
Predicted Effect probably damaging
Transcript: ENSMUST00000026408
AA Change: Y314H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026408
Gene: ENSMUSG00000025352
AA Change: Y314H

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:TGFb_propeptide 57 298 4.6e-39 PFAM
TGFB 311 405 4.8e-48 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 plays a role in the development of the nervous and other organ systems, and may regulate aging. Mice lacking a functional copy of this gene exhibit impaired anteroposterior patterning and other developmental defects. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for a null allele die neonatally showing altered patterning of the axial skeleton and impaired renal, palate, stomach, spleen and pancreatic development. A second null allele also alters retinal and olfactory epithelium neurogenesis. A third null allele causes extra thoracic vertebrae. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,093,308 (GRCm39) S8F probably damaging Het
Alpk1 T A 3: 127,522,931 (GRCm39) Q37L probably damaging Het
Cfap43 T C 19: 47,736,463 (GRCm39) T1343A probably benign Het
Cmbl C A 15: 31,585,554 (GRCm39) P146Q possibly damaging Het
Cog2 A T 8: 125,259,951 (GRCm39) probably null Het
Dgkh C A 14: 78,825,016 (GRCm39) V880L probably benign Het
Dop1a T C 9: 86,402,141 (GRCm39) S1114P probably damaging Het
Eif5b T A 1: 38,080,828 (GRCm39) V723D probably damaging Het
Gm10110 T C 14: 90,135,031 (GRCm39) noncoding transcript Het
Gria1 G A 11: 57,127,750 (GRCm39) V320I probably benign Het
H2-Q10 T A 17: 35,784,463 (GRCm39) *326R probably null Het
Irx6 T A 8: 93,403,659 (GRCm39) L128Q probably damaging Het
Kif21b T A 1: 136,087,495 (GRCm39) L937Q probably damaging Het
Lama5 A G 2: 179,832,120 (GRCm39) probably benign Het
Mios A G 6: 8,231,269 (GRCm39) I718V probably benign Het
Mroh8 A G 2: 157,096,893 (GRCm39) V318A probably damaging Het
Nags A G 11: 102,039,897 (GRCm39) *528W probably null Het
Nom1 T A 5: 29,642,708 (GRCm39) V403D probably damaging Het
Npffr2 C A 5: 89,731,310 (GRCm39) N413K probably benign Het
Olr1 C T 6: 129,476,860 (GRCm39) R135K possibly damaging Het
Or1e34 A T 11: 73,779,121 (GRCm39) Y26N probably benign Het
Or52e8 T A 7: 104,624,665 (GRCm39) I176F possibly damaging Het
Pkhd1 A G 1: 20,140,600 (GRCm39) probably null Het
Ptpro A G 6: 137,431,698 (GRCm39) M1158V probably benign Het
Sh3d19 A G 3: 86,001,017 (GRCm39) K238E probably damaging Het
Smarcc2 G T 10: 128,318,641 (GRCm39) R641L probably damaging Het
Th T C 7: 142,451,794 (GRCm39) E75G possibly damaging Het
Tlr1 A T 5: 65,083,290 (GRCm39) L429* probably null Het
Top6bl T C 19: 4,713,583 (GRCm39) K132E probably damaging Het
Ttn G A 2: 76,724,705 (GRCm39) R2107* probably null Het
Ubr2 A T 17: 47,245,119 (GRCm39) C1636S probably damaging Het
Vmn2r100 T A 17: 19,741,597 (GRCm39) I103K possibly damaging Het
Vmn2r88 A G 14: 51,655,437 (GRCm39) M558V possibly damaging Het
Zzef1 G A 11: 72,777,573 (GRCm39) M1801I probably benign Het
Other mutations in Gdf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0056:Gdf11 UTSW 10 128,722,294 (GRCm39) missense probably benign 0.04
R1773:Gdf11 UTSW 10 128,727,163 (GRCm39) missense probably damaging 0.99
R1858:Gdf11 UTSW 10 128,722,315 (GRCm39) missense probably damaging 1.00
R1988:Gdf11 UTSW 10 128,721,111 (GRCm39) missense probably benign 0.05
R2025:Gdf11 UTSW 10 128,727,314 (GRCm39) missense probably damaging 1.00
R7875:Gdf11 UTSW 10 128,722,210 (GRCm39) missense probably benign 0.31
X0067:Gdf11 UTSW 10 128,722,072 (GRCm39) missense possibly damaging 0.91
Posted On 2015-04-16