Incidental Mutation 'R0056:Gdf11'
ID 16845
Institutional Source Beutler Lab
Gene Symbol Gdf11
Ensembl Gene ENSMUSG00000025352
Gene Name growth differentiation factor 11
Synonyms Bmp11
MMRRC Submission 038350-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0056 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 128718164-128727587 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 128722294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 187 (R187H)
Ref Sequence ENSEMBL: ENSMUSP00000026408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026408]
AlphaFold Q9Z1W4
Predicted Effect probably benign
Transcript: ENSMUST00000026408
AA Change: R187H

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000026408
Gene: ENSMUSG00000025352
AA Change: R187H

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
Meta Mutation Damage Score 0.0619 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.3%
  • 10x: 78.7%
  • 20x: 65.9%
Validation Efficiency 89% (66/74)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,078,540 (GRCm39) C561* probably null Het
Ankfn1 A G 11: 89,282,502 (GRCm39) S1061P possibly damaging Het
Atp9b A G 18: 80,809,018 (GRCm39) S634P probably damaging Het
Bche A T 3: 73,608,654 (GRCm39) N257K possibly damaging Het
Bms1 A T 6: 118,382,190 (GRCm39) D449E probably benign Het
C630050I24Rik G T 8: 107,846,026 (GRCm39) V59F unknown Het
Camkk2 C T 5: 122,880,261 (GRCm39) E452K probably damaging Het
Ccdc121rt1 T C 1: 181,338,118 (GRCm39) Y278C probably damaging Het
Chd9 A G 8: 91,660,165 (GRCm39) H375R possibly damaging Het
Entpd7 T A 19: 43,713,733 (GRCm39) V364E probably benign Het
Epb41l3 A T 17: 69,560,392 (GRCm39) D313V probably damaging Het
Etv6 G T 6: 134,225,497 (GRCm39) E154* probably null Het
Fshr T G 17: 89,295,885 (GRCm39) H274P probably damaging Het
G3bp1 A G 11: 55,388,867 (GRCm39) N360D probably benign Het
Gpihbp1 T A 15: 75,468,982 (GRCm39) I52N probably damaging Het
H1f8 G T 6: 115,923,934 (GRCm39) probably benign Het
Htt T C 5: 34,983,422 (GRCm39) probably benign Het
Iqcm A G 8: 76,480,014 (GRCm39) Q324R probably benign Het
Kcng3 A G 17: 83,895,185 (GRCm39) L427P probably damaging Het
Klk7 T C 7: 43,461,434 (GRCm39) L17P possibly damaging Het
Klrd1 G A 6: 129,570,738 (GRCm39) V50I probably benign Het
Lama5 A T 2: 179,828,899 (GRCm39) probably benign Het
Lamtor3 T A 3: 137,632,711 (GRCm39) probably benign Het
Lyplal1 G A 1: 185,820,763 (GRCm39) T228I probably benign Het
Mapk6 A G 9: 75,296,098 (GRCm39) Y467H possibly damaging Het
Marchf6 T C 15: 31,467,880 (GRCm39) T776A possibly damaging Het
Mogat1 T G 1: 78,500,407 (GRCm39) M157R probably damaging Het
Morc2b T A 17: 33,357,733 (GRCm39) Q13L possibly damaging Het
Myo1h C T 5: 114,468,273 (GRCm39) T356I probably damaging Het
Ncoa2 C A 1: 117,516,497 (GRCm38) probably null Het
Nobox A G 6: 43,281,853 (GRCm39) C407R probably benign Het
Nup58 A G 14: 60,476,924 (GRCm39) probably null Het
Or56a4 A G 7: 104,806,329 (GRCm39) S187P probably benign Het
Otoa A G 7: 120,730,570 (GRCm39) Y590C probably benign Het
Pelp1 A T 11: 70,284,658 (GRCm39) V1070E unknown Het
Pglyrp3 G T 3: 91,933,111 (GRCm39) probably benign Het
Plpp2 A G 10: 79,363,063 (GRCm39) F189S probably damaging Het
Polr2b T C 5: 77,482,382 (GRCm39) I640T possibly damaging Het
Ryr2 T A 13: 11,683,924 (GRCm39) T3047S probably damaging Het
Snx25 A T 8: 46,491,550 (GRCm39) W847R probably damaging Het
Son T C 16: 91,475,043 (GRCm39) Y454H possibly damaging Het
Sos1 A T 17: 80,721,050 (GRCm39) N923K probably damaging Het
Tex15 A G 8: 34,072,055 (GRCm39) H2534R probably benign Het
Ticam2 G T 18: 46,693,401 (GRCm39) Q229K possibly damaging Het
Tnfaip3 A T 10: 18,881,041 (GRCm39) V342E probably damaging Het
Traf6 A G 2: 101,527,496 (GRCm39) I415M possibly damaging Het
Trpm1 A G 7: 63,893,334 (GRCm39) D1062G probably damaging Het
Wdr59 C T 8: 112,207,239 (GRCm39) probably benign Het
Other mutations in Gdf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02308:Gdf11 APN 10 128,721,253 (GRCm39) missense probably damaging 1.00
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 2013-01-20