Incidental Mutation 'R3832:Gdf6'
Institutional Source Beutler Lab
Gene Symbol Gdf6
Ensembl Gene ENSMUSG00000051279
Gene Namegrowth differentiation factor 6
MMRRC Submission 040887-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #R3832 (G1)
Quality Score225
Status Validated
Chromosomal Location9844372-9862345 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 9844568 bp
Amino Acid Change Serine to Proline at position 31 (S31P)
Ref Sequence ENSEMBL: ENSMUSP00000062884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057613]
Predicted Effect probably benign
Transcript: ENSMUST00000057613
AA Change: S31P

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000062884
Gene: ENSMUSG00000051279
AA Change: S31P

signal peptide 1 22 N/A INTRINSIC
low complexity region 27 35 N/A INTRINSIC
Pfam:TGFb_propeptide 67 284 9.9e-24 PFAM
low complexity region 301 319 N/A INTRINSIC
TGFB 353 454 8.92e-66 SMART
Meta Mutation Damage Score 0.1514 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (54/55)
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 is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mice lacking a functional copy of this gene exhibit joint and skeletal defects. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mice show multiple joint and skeletal patterning defects affecting the extremities, inner ear, and skull. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A C 15: 94,331,458 C927G probably damaging Het
Afdn T A 17: 13,896,174 D190E probably benign Het
Aldh1a7 T C 19: 20,708,238 Y316C probably damaging Het
Arhgef38 T C 3: 133,206,925 R118G possibly damaging Het
BC049730 T A 7: 24,714,287 S243T probably benign Het
Bcar3 A G 3: 122,426,649 D65G probably damaging Het
Cacna1i T C 15: 80,356,187 F370S probably damaging Het
Cacnb2 A T 2: 14,981,425 I338F probably damaging Het
Cblc T C 7: 19,792,172 M238V probably damaging Het
Ccdc3 A G 2: 5,229,142 N259S probably benign Het
Cep55 A G 19: 38,053,112 probably benign Het
Col6a1 T C 10: 76,711,117 D757G unknown Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,741,236 probably null Het
Cyb5d2 G T 11: 72,795,523 S80R possibly damaging Het
Cyfip2 T C 11: 46,261,506 D485G probably benign Het
Cyp27b1 G T 10: 127,051,060 V382L probably damaging Het
Erich3 G A 3: 154,762,361 V817M probably damaging Het
Gtsf1 T C 15: 103,425,475 I25V probably damaging Het
Hephl1 T C 9: 15,069,748 E796G probably damaging Het
Iglv2 A T 16: 19,260,843 M1K probably null Het
Kif26b GAAA GAA 1: 178,916,616 probably null Het
Klhl28 C A 12: 64,951,421 G433V probably damaging Het
Lipn T C 19: 34,069,533 probably null Het
Mapk7 A G 11: 61,489,854 S641P possibly damaging Het
Med22 A G 2: 26,910,367 S17P probably damaging Het
Olfr126 T C 17: 37,851,180 V196A probably benign Het
Olfr301 A T 7: 86,413,193 Y277F probably damaging Het
Otud1 G C 2: 19,658,140 A27P possibly damaging Het
Pcdhga6 A T 18: 37,708,426 N400Y probably damaging Het
Pdgfd T C 9: 6,359,762 S278P probably damaging Het
Pdzd7 A T 19: 45,040,254 V150E probably damaging Het
Peak1 T C 9: 56,258,383 S754G probably benign Het
Phf14 A G 6: 11,933,874 probably null Het
Phlpp1 G A 1: 106,392,597 E1441K probably damaging Het
Piezo2 A G 18: 63,081,662 probably null Het
Pikfyve G A 1: 65,244,420 V739I probably damaging Het
Plcg1 T G 2: 160,754,437 M651R possibly damaging Het
Prex2 T C 1: 11,156,364 probably benign Het
Pus3 G C 9: 35,566,578 G369R probably benign Het
Rab11fip1 G A 8: 27,152,746 T675I probably benign Het
Scarf1 T C 11: 75,515,252 C121R probably damaging Het
Sco1 T C 11: 67,053,779 V76A probably damaging Het
Slc39a8 T A 3: 135,849,133 C113S probably damaging Het
Slit3 A T 11: 35,688,682 S1229C probably null Het
Snd1 G T 6: 28,531,404 probably benign Het
Tbc1d9 A G 8: 83,233,663 S182G probably damaging Het
Tecta A C 9: 42,339,033 F1816C probably damaging Het
Tekt1 T C 11: 72,354,819 N170S probably benign Het
Trim47 T C 11: 116,107,957 T279A probably benign Het
Ttll4 A G 1: 74,686,391 K653E probably damaging Het
Vcam1 T C 3: 116,114,491 T641A possibly damaging Het
Vmn1r16 A G 6: 57,323,227 F137L probably benign Het
Vmn2r17 T A 5: 109,428,396 W378R probably damaging Het
Zfp777 T C 6: 48,044,215 T158A probably benign Het
Zp1 T C 19: 10,916,524 D439G probably damaging Het
Other mutations in Gdf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4469001:Gdf6 UTSW 4 9859569 missense probably damaging 0.96
R0112:Gdf6 UTSW 4 9844482 missense probably damaging 0.99
R0609:Gdf6 UTSW 4 9859977 missense probably damaging 1.00
R1909:Gdf6 UTSW 4 9859971 missense probably damaging 1.00
R2101:Gdf6 UTSW 4 9860025 missense probably damaging 1.00
R2220:Gdf6 UTSW 4 9844770 missense probably damaging 1.00
R4077:Gdf6 UTSW 4 9844776 missense probably damaging 1.00
R4170:Gdf6 UTSW 4 9859650 missense probably benign
R4258:Gdf6 UTSW 4 9844877 missense probably damaging 0.99
R7023:Gdf6 UTSW 4 9860210 missense probably damaging 1.00
R7383:Gdf6 UTSW 4 9859537 missense probably benign 0.28
R7449:Gdf6 UTSW 4 9844494 missense possibly damaging 0.72
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-04-02