Incidental Mutation 'R7383:Gdf6'
ID572856
Institutional Source Beutler Lab
Gene Symbol Gdf6
Ensembl Gene ENSMUSG00000051279
Gene Namegrowth differentiation factor 6
SynonymsBMP13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.229) question?
Stock #R7383 (G1)
Quality Score225.009
Status Not validated
Chromosome4
Chromosomal Location9844372-9862345 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 9859537 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 206 (D206E)
Ref Sequence ENSEMBL: ENSMUSP00000062884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057613]
Predicted Effect probably benign
Transcript: ENSMUST00000057613
AA Change: D206E

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000062884
Gene: ENSMUSG00000051279
AA Change: D206E

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 T A 11: 5,868,548 I511N probably damaging Het
Ap5m1 T G 14: 49,074,196 V241G possibly damaging Het
BC049715 T A 6: 136,840,455 I231N probably damaging Het
Bckdhb T G 9: 83,953,713 V90G possibly damaging Het
Chd8 T C 14: 52,215,319 I1248V probably damaging Het
Ckap2l A T 2: 129,269,252 M675K possibly damaging Het
Ckap4 A T 10: 84,528,284 V305E probably damaging Het
Clasrp C A 7: 19,585,273 R489L unknown Het
Col24a1 A G 3: 145,298,838 I26V probably benign Het
Cort C T 4: 149,125,404 A64T possibly damaging Het
Dmkn T A 7: 30,765,368 N255K unknown Het
Dph2 A T 4: 117,891,369 L69Q probably damaging Het
Fam129c A C 8: 71,603,826 E390A possibly damaging Het
Fbxo11 A G 17: 88,002,854 I432T Het
Fgd3 T C 13: 49,268,309 K531R possibly damaging Het
Fgd5 A G 6: 91,987,118 K111E probably benign Het
Fopnl TTGTG TTG 16: 14,300,145 probably null Het
Gtpbp1 T A 15: 79,716,153 L429Q probably damaging Het
Hk2 A G 6: 82,749,295 F90S probably damaging Het
Hrnr A T 3: 93,331,791 Q3112L unknown Het
Hsd17b4 A C 18: 50,164,850 K402T probably benign Het
Htr1f T C 16: 64,926,843 T29A probably benign Het
Ikbkb C A 8: 22,669,050 A471S probably benign Het
Inpp5f A G 7: 128,694,586 D887G probably damaging Het
Ipo9 A G 1: 135,388,673 L805P probably damaging Het
Jmjd1c A T 10: 67,189,758 N118I probably benign Het
Kif26b T G 1: 178,530,710 C129G probably damaging Het
Mga G A 2: 119,960,340 A2236T probably damaging Het
Micu2 T C 14: 57,917,353 Q405R possibly damaging Het
Myo1e T A 9: 70,297,295 V59D probably damaging Het
Nav3 A G 10: 109,716,671 I1770T probably damaging Het
Ndufa10 A T 1: 92,464,461 I190N probably damaging Het
Npat T A 9: 53,562,778 H623Q probably benign Het
Npc1l1 T C 11: 6,217,777 T1005A probably benign Het
Olfr1086 A G 2: 86,676,919 V138A possibly damaging Het
Olfr1124 A G 2: 87,435,377 S297G possibly damaging Het
Olfr124 A G 17: 37,806,081 K312R probably benign Het
Olfr281 C G 15: 98,456,697 P129R probably damaging Het
Olfr292 A T 7: 86,694,752 I99F probably damaging Het
Olfr322 T C 11: 58,666,185 S209P possibly damaging Het
Olfr381 A G 11: 73,485,889 *312Q probably null Het
Pafah1b2 C T 9: 45,968,849 G177R probably benign Het
Phc1 A G 6: 122,323,358 S521P unknown Het
Plpp2 A T 10: 79,531,007 L25Q probably null Het
Plxna4 A G 6: 32,152,799 probably null Het
Ppl G T 16: 5,097,971 P576Q probably damaging Het
Rab38 T C 7: 88,430,429 Y10H possibly damaging Het
Rbfox1 G A 16: 7,070,035 G13S probably benign Het
Rhot1 C G 11: 80,223,934 P56R probably damaging Het
Sipa1l2 A G 8: 125,447,646 W1298R probably damaging Het
Slc16a14 G A 1: 84,912,571 H338Y probably damaging Het
Slc8a3 T G 12: 81,315,805 Y80S probably damaging Het
Slco6c1 A T 1: 97,075,883 Y513* probably null Het
Smarcd2 A G 11: 106,264,776 C405R probably damaging Het
Szt2 G A 4: 118,365,214 R3198* probably null Het
Tmeff1 T A 4: 48,636,841 C180S probably damaging Het
Tmem132a A T 19: 10,866,994 M80K probably benign Het
Tnfsf12 A G 11: 69,687,066 V175A probably damaging Het
Tnpo2 G A 8: 85,050,119 R485H probably damaging Het
Togaram2 A T 17: 71,700,517 I354F probably damaging Het
Uchl5 T A 1: 143,784,015 S42R probably benign Het
Virma C A 4: 11,514,026 L627I probably damaging Het
Vmn2r12 A T 5: 109,092,818 I143K probably benign Het
Vmn2r95 T G 17: 18,440,472 V382G probably benign Het
Wipf3 G T 6: 54,485,278 A158S probably benign Het
Ylpm1 T G 12: 85,044,468 S1809A possibly damaging Het
Zdhhc5 A T 2: 84,694,404 C191S probably benign Het
Zer1 G A 2: 30,111,241 R84C probably damaging Het
Zfhx2 A T 14: 55,068,253 V991D probably benign Het
Zscan4b C A 7: 10,904,033 M61I possibly damaging Het
Zswim2 A T 2: 83,915,328 S589T possibly 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
R3832:Gdf6 UTSW 4 9844568 missense probably benign 0.05
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
R7449:Gdf6 UTSW 4 9844494 missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- TCCGGAGACAGAAGTATTTGTTTG -3'
(R):5'- TGAACACTACAAGCAGGGC -3'

Sequencing Primer
(F):5'- GATGTGTCCACACTCTCAGAC -3'
(R):5'- GAAGCCCAGACTCCGCAG -3'
Posted On2019-09-13