Incidental Mutation 'PIT4469001:Gdf6'
ID 555820
Institutional Source Beutler Lab
Gene Symbol Gdf6
Ensembl Gene ENSMUSG00000051279
Gene Name growth differentiation factor 6
Synonyms BMP13
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # PIT4469001 (G1)
Quality Score 205.009
Status Not validated
Chromosome 4
Chromosomal Location 9844372-9862345 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9859569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 217 (V217A)
Ref Sequence ENSEMBL: ENSMUSP00000062884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057613]
AlphaFold P43028
Predicted Effect probably damaging
Transcript: ENSMUST00000057613
AA Change: V217A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000062884
Gene: ENSMUSG00000051279
AA Change: V217A

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
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.7%
  • 10x: 84.4%
  • 20x: 71.1%
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 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik A G 1: 85,652,920 (GRCm39) F83L probably benign Het
Acsm2 T A 7: 119,177,408 (GRCm39) C308S possibly damaging Het
Ak3 A G 19: 29,025,157 (GRCm39) S25P probably damaging Het
Atp13a2 T A 4: 140,721,438 (GRCm39) V176E unknown Het
Bmper A T 9: 23,317,845 (GRCm39) H488L probably benign Het
Cacna1c A T 6: 118,572,933 (GRCm39) C2084S unknown Het
Ccp110 T A 7: 118,321,600 (GRCm39) N418K probably benign Het
Ddx17 C A 15: 79,428,014 (GRCm39) G32C probably damaging Het
Dennd2b G A 7: 109,130,337 (GRCm39) A888V probably damaging Het
Dusp16 G A 6: 134,738,115 (GRCm39) probably benign Het
Efl1 T G 7: 82,307,373 (GRCm39) F90V probably benign Het
Ell2 T A 13: 75,910,011 (GRCm39) N252K probably damaging Het
H1f4 A T 13: 23,806,362 (GRCm39) V40E probably damaging Het
Hint1 T A 11: 54,760,896 (GRCm39) S112T unknown Het
Kif5c T C 2: 49,631,360 (GRCm39) V679A probably benign Het
Lrrn3 A T 12: 41,503,017 (GRCm39) D433E probably benign Het
Mast4 G A 13: 102,941,226 (GRCm39) T277M probably damaging Het
Naa11 A G 5: 97,539,485 (GRCm39) probably null Het
Pcdh18 T A 3: 49,709,518 (GRCm39) H599L probably benign Het
Pgc A T 17: 48,039,680 (GRCm39) K25* probably null Het
Pramel58 T A 5: 94,830,652 (GRCm39) V50E probably damaging Het
Psd4 G A 2: 24,284,306 (GRCm39) D57N probably benign Het
Pxdn G A 12: 30,055,828 (GRCm39) R1238Q probably benign Het
Smim41 T C 15: 101,191,152 (GRCm39) V6A probably benign Het
Spata32 T C 11: 103,100,653 (GRCm39) N38S probably benign Het
Tpr A G 1: 150,279,707 (GRCm39) T279A probably benign Het
Unc13a C A 8: 72,110,958 (GRCm39) E418* probably null Het
Vmn2r97 C A 17: 19,149,878 (GRCm39) T422K probably benign Het
Zfp474 A T 18: 52,771,791 (GRCm39) Q148L possibly damaging Het
Other mutations in Gdf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0112:Gdf6 UTSW 4 9,844,482 (GRCm39) missense probably damaging 0.99
R0609:Gdf6 UTSW 4 9,859,977 (GRCm39) missense probably damaging 1.00
R1909:Gdf6 UTSW 4 9,859,971 (GRCm39) missense probably damaging 1.00
R2101:Gdf6 UTSW 4 9,860,025 (GRCm39) missense probably damaging 1.00
R2220:Gdf6 UTSW 4 9,844,770 (GRCm39) missense probably damaging 1.00
R3832:Gdf6 UTSW 4 9,844,568 (GRCm39) missense probably benign 0.05
R4077:Gdf6 UTSW 4 9,844,776 (GRCm39) missense probably damaging 1.00
R4170:Gdf6 UTSW 4 9,859,650 (GRCm39) missense probably benign
R4258:Gdf6 UTSW 4 9,844,877 (GRCm39) missense probably damaging 0.99
R7023:Gdf6 UTSW 4 9,860,210 (GRCm39) missense probably damaging 1.00
R7383:Gdf6 UTSW 4 9,859,537 (GRCm39) missense probably benign 0.28
R7449:Gdf6 UTSW 4 9,844,494 (GRCm39) missense possibly damaging 0.72
R7992:Gdf6 UTSW 4 9,844,652 (GRCm39) missense probably benign 0.06
R8058:Gdf6 UTSW 4 9,859,712 (GRCm39) missense probably benign 0.00
R8738:Gdf6 UTSW 4 9,859,429 (GRCm39) missense probably damaging 0.99
R8802:Gdf6 UTSW 4 9,844,769 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-06-07