Incidental Mutation 'R3894:Gdf7'
ID 310461
Institutional Source Beutler Lab
Gene Symbol Gdf7
Ensembl Gene ENSMUSG00000037660
Gene Name growth differentiation factor 7
Synonyms BMP12
Accession Numbers
Essential gene? Probably essential (E-score: 0.793) question?
Stock # R3894 (G1)
Quality Score 135
Status Not validated
Chromosome 12
Chromosomal Location 8347918-8351954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8348845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 151 (S151P)
Ref Sequence ENSEMBL: ENSMUSP00000151234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037313] [ENSMUST00000220073]
AlphaFold P43029
Predicted Effect unknown
Transcript: ENSMUST00000037313
AA Change: S159P
SMART Domains Protein: ENSMUSP00000038301
Gene: ENSMUSG00000037660
AA Change: S159P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:TGFb_propeptide 49 275 2.3e-15 PFAM
low complexity region 281 302 N/A INTRINSIC
low complexity region 308 357 N/A INTRINSIC
TGFB 360 461 1.14e-63 SMART
Predicted Effect unknown
Transcript: ENSMUST00000220073
AA Change: S151P
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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 may play a role in the differentiation of tendon cells and spinal cord interneurons. Mice lacking a functional copy of this gene exhibit absence of some spinal dopaminergic neurons and brain defects, male sterility, and premature death. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a null allele lack D1A neurons in the dorsal spinal cord; some develop severe hydrocephaly with dilated ventricles and late-onset brain defects. Mice homozygous for another null allele show premature death, hydrocephaly, aberrant seminal vesicle development and male sterility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1s1 A G 7: 44,503,363 (GRCm39) D180G probably damaging Het
Aldh1a7 A T 19: 20,673,762 (GRCm39) Y457* probably null Het
Alpk3 C T 7: 80,728,138 (GRCm39) P423S possibly damaging Het
Aox1 A T 1: 58,373,837 (GRCm39) probably null Het
Crebbp T C 16: 3,913,966 (GRCm39) T1316A probably benign Het
Cul3 C A 1: 80,261,407 (GRCm39) V273F probably damaging Het
Dnah1 G T 14: 31,028,985 (GRCm39) R582S probably benign Het
Fbxl2 T C 9: 113,832,261 (GRCm39) N51S probably damaging Het
Gapvd1 T C 2: 34,618,488 (GRCm39) D295G probably benign Het
Gm10277 T C 11: 77,676,827 (GRCm39) probably benign Het
Hdac4 T C 1: 91,898,690 (GRCm39) E688G possibly damaging Het
Htr1d A G 4: 136,170,548 (GRCm39) E259G probably benign Het
Ifi204 T C 1: 173,576,774 (GRCm39) H609R possibly damaging Het
Ift80 T C 3: 68,825,332 (GRCm39) D541G probably damaging Het
Il18r1 A T 1: 40,514,034 (GRCm39) H80L possibly damaging Het
Lrp4 G A 2: 91,304,294 (GRCm39) G158S probably damaging Het
Mesd T A 7: 83,546,993 (GRCm39) L152H probably damaging Het
Mmut G A 17: 41,266,030 (GRCm39) C531Y probably damaging Het
Morf4l1 A T 9: 89,976,501 (GRCm39) F276I possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myo15a A G 11: 60,395,145 (GRCm39) T2480A probably benign Het
Or2a52 A T 6: 43,144,192 (GRCm39) I67F probably benign Het
Or2y15 G A 11: 49,350,766 (GRCm39) G87R possibly damaging Het
Or4f47 T C 2: 111,972,359 (GRCm39) I23T probably benign Het
Or4g17 C A 2: 111,209,982 (GRCm39) F212L probably benign Het
Or5k16 A G 16: 58,736,702 (GRCm39) F101L probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Ovgp1 A G 3: 105,893,912 (GRCm39) probably benign Het
Pcbp4 A T 9: 106,338,570 (GRCm39) Q59L possibly damaging Het
Prg4 G C 1: 150,330,510 (GRCm39) probably benign Het
Rad50 T A 11: 53,569,697 (GRCm39) I905L probably benign Het
Rp1l1 T C 14: 64,266,756 (GRCm39) S781P probably benign Het
Rps3 C T 7: 99,129,103 (GRCm39) R173H probably benign Het
Rtn3 T A 19: 7,412,450 (GRCm39) T86S probably damaging Het
Sdha A T 13: 74,482,510 (GRCm39) S268T probably benign Het
Sgo2b A T 8: 64,381,767 (GRCm39) V355E possibly damaging Het
Sh3glb2 T C 2: 30,245,300 (GRCm39) T60A probably damaging Het
Slc26a3 A C 12: 31,514,719 (GRCm39) Y513S probably damaging Het
Slc35b2 T C 17: 45,877,368 (GRCm39) V165A probably benign Het
Slco3a1 A G 7: 73,934,361 (GRCm39) W604R probably damaging Het
Tet2 A G 3: 133,175,238 (GRCm39) S1370P possibly damaging Het
Tmtc4 A T 14: 123,158,731 (GRCm39) probably null Het
Tsga13 A G 6: 30,889,198 (GRCm39) V18A probably benign Het
Ugt2a3 T C 5: 87,477,449 (GRCm39) T317A probably benign Het
Zcchc4 A T 5: 52,941,442 (GRCm39) D79V probably damaging Het
Other mutations in Gdf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02796:Gdf7 UTSW 12 8,351,666 (GRCm39) missense unknown
R0781:Gdf7 UTSW 12 8,351,555 (GRCm39) splice site probably benign
R1457:Gdf7 UTSW 12 8,348,073 (GRCm39) missense probably damaging 0.97
R1556:Gdf7 UTSW 12 8,351,698 (GRCm39) missense unknown
R1643:Gdf7 UTSW 12 8,347,971 (GRCm39) missense probably damaging 1.00
R2010:Gdf7 UTSW 12 8,351,729 (GRCm39) missense unknown
R2439:Gdf7 UTSW 12 8,348,050 (GRCm39) missense probably damaging 1.00
R2899:Gdf7 UTSW 12 8,348,470 (GRCm39) missense unknown
R4854:Gdf7 UTSW 12 8,348,014 (GRCm39) missense probably damaging 0.99
R5207:Gdf7 UTSW 12 8,348,371 (GRCm39) missense unknown
R6199:Gdf7 UTSW 12 8,348,832 (GRCm39) missense unknown
R6583:Gdf7 UTSW 12 8,351,758 (GRCm39) missense unknown
R7687:Gdf7 UTSW 12 8,348,257 (GRCm39) nonsense probably null
R7745:Gdf7 UTSW 12 8,351,854 (GRCm39) missense unknown
R8705:Gdf7 UTSW 12 8,348,167 (GRCm39) missense probably damaging 0.96
R8845:Gdf7 UTSW 12 8,348,905 (GRCm39) missense unknown
R9100:Gdf7 UTSW 12 8,348,652 (GRCm39) missense unknown
Z1176:Gdf7 UTSW 12 8,348,578 (GRCm39) missense unknown
Z1176:Gdf7 UTSW 12 8,348,409 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCCGGAACAGACTCTCTTTC -3'
(R):5'- ATGTGTCTGGGGTAGCCAAG -3'

Sequencing Primer
(F):5'- TTTGCGTACGGGAGGAGATCAC -3'
(R):5'- GAAGCCAAGCTGCCCTC -3'
Posted On 2015-04-17