Incidental Mutation 'IGL02148:Gdf9'
ID 281871
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdf9
Ensembl Gene ENSMUSG00000018238
Gene Name growth differentiation factor 9
Synonyms Gdf-9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL02148
Quality Score
Status
Chromosome 11
Chromosomal Location 53321850-53328731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53327569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 175 (M175K)
Ref Sequence ENSEMBL: ENSMUSP00000018382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018382]
AlphaFold Q07105
Predicted Effect probably benign
Transcript: ENSMUST00000018382
AA Change: M175K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000018382
Gene: ENSMUSG00000018238
AA Change: M175K

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
TGFB 340 441 3.16e-48 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156037
Coding Region Coverage
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 regulates ovarian function. Female mice that are homozygous null for this gene are sterile with impaired folliculogenesis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Females homozygous for a targeted null mutation are sterile with a block in folliculogenesis. Mutant oocytes exhibit perinuclear organelle aggregation, unusual Golgi complexes, absence of cortical granules, and impaired granulosa cell connections. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna C T 4: 63,300,716 (GRCm39) probably benign Het
AU040320 T C 4: 126,733,469 (GRCm39) V663A possibly damaging Het
Cdh13 A G 8: 119,925,697 (GRCm39) D355G probably damaging Het
Cdyl2 A G 8: 117,315,983 (GRCm39) probably benign Het
Csnk1g3 C T 18: 54,086,360 (GRCm39) R422C probably benign Het
Dclk1 T A 3: 55,407,520 (GRCm39) V233D probably damaging Het
Ddx59 T C 1: 136,361,565 (GRCm39) S477P probably damaging Het
Epb41l1 A T 2: 156,353,748 (GRCm39) probably benign Het
Epha2 T C 4: 141,045,835 (GRCm39) L453P probably damaging Het
Esco2 T C 14: 66,064,044 (GRCm39) H380R probably benign Het
Fbxo38 T C 18: 62,669,298 (GRCm39) M51V probably benign Het
Fgb T C 3: 82,950,594 (GRCm39) M387V probably damaging Het
Fryl A G 5: 73,233,302 (GRCm39) L1522S probably benign Het
Gm20547 C T 17: 35,079,524 (GRCm39) D243N probably benign Het
Gramd1b T A 9: 40,227,060 (GRCm39) D299V probably damaging Het
Gsg1l G T 7: 125,522,671 (GRCm39) Q186K possibly damaging Het
H2bl1 A T 13: 99,120,691 (GRCm39) F112I probably damaging Het
Katnip A T 7: 125,472,648 (GRCm39) probably null Het
Kcnh5 A G 12: 74,944,426 (GRCm39) L941P possibly damaging Het
Lrrc8d A G 5: 105,960,253 (GRCm39) D221G possibly damaging Het
Med19 T C 2: 84,515,603 (GRCm39) F96L probably damaging Het
Mei1 C A 15: 81,976,912 (GRCm39) S589* probably null Het
Myh15 G T 16: 48,936,678 (GRCm39) D708Y probably damaging Het
Naca C T 10: 127,879,753 (GRCm39) probably benign Het
Or5d43 A T 2: 88,104,566 (GRCm39) Y276N possibly damaging Het
Otog G A 7: 45,950,011 (GRCm39) C306Y probably damaging Het
Phldb1 T C 9: 44,607,369 (GRCm39) K1279E probably damaging Het
Pkd1 C T 17: 24,798,810 (GRCm39) T369I probably damaging Het
Plekha8 A G 6: 54,592,271 (GRCm39) S32G probably damaging Het
Pramel25 T A 4: 143,519,304 (GRCm39) Y22N probably benign Het
Sema4g A G 19: 44,984,908 (GRCm39) T113A probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Sh3rf3 T C 10: 58,922,562 (GRCm39) M546T probably benign Het
Slc27a5 A G 7: 12,728,878 (GRCm39) V328A probably damaging Het
Spef1 T C 2: 131,014,688 (GRCm39) N78S probably benign Het
Tln1 T C 4: 43,555,388 (GRCm39) T179A probably damaging Het
Tmc5 T C 7: 118,244,547 (GRCm39) I475T probably damaging Het
Top2b A G 14: 16,400,488 (GRCm38) Y621C probably damaging Het
Ttf1 T C 2: 28,969,438 (GRCm39) F727L probably benign Het
Tufm T C 7: 126,088,332 (GRCm39) L75P probably damaging Het
Ugt1a2 T A 1: 88,128,796 (GRCm39) D146E probably damaging Het
Usp15 G A 10: 122,963,742 (GRCm39) T533I probably damaging Het
Vmn1r113 A G 7: 20,521,747 (GRCm39) T180A probably benign Het
Vmn1r205 G T 13: 22,776,395 (GRCm39) P236T probably damaging Het
Vmn2r112 T G 17: 22,838,013 (GRCm39) C825G probably damaging Het
Zfp712 T A 13: 67,190,222 (GRCm39) I102F probably damaging Het
Other mutations in Gdf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0688:Gdf9 UTSW 11 53,327,467 (GRCm39) missense probably damaging 1.00
R1607:Gdf9 UTSW 11 53,328,338 (GRCm39) missense possibly damaging 0.79
R1651:Gdf9 UTSW 11 53,324,576 (GRCm39) missense probably damaging 0.98
R1902:Gdf9 UTSW 11 53,327,780 (GRCm39) missense probably benign 0.26
R2128:Gdf9 UTSW 11 53,328,334 (GRCm39) missense probably damaging 1.00
R5360:Gdf9 UTSW 11 53,328,034 (GRCm39) missense probably benign 0.42
R5391:Gdf9 UTSW 11 53,324,624 (GRCm39) missense probably benign
R5395:Gdf9 UTSW 11 53,324,624 (GRCm39) missense probably benign
R5470:Gdf9 UTSW 11 53,327,581 (GRCm39) missense probably benign 0.11
R5593:Gdf9 UTSW 11 53,324,558 (GRCm39) missense probably damaging 0.99
R5809:Gdf9 UTSW 11 53,324,381 (GRCm39) missense probably benign 0.03
R5829:Gdf9 UTSW 11 53,324,516 (GRCm39) missense probably benign 0.03
R6394:Gdf9 UTSW 11 53,327,524 (GRCm39) missense probably damaging 1.00
R6442:Gdf9 UTSW 11 53,324,515 (GRCm39) missense probably benign 0.00
R6894:Gdf9 UTSW 11 53,327,646 (GRCm39) missense possibly damaging 0.80
R7171:Gdf9 UTSW 11 53,328,366 (GRCm39) missense probably damaging 1.00
R7650:Gdf9 UTSW 11 53,327,925 (GRCm39) missense probably benign 0.06
R8552:Gdf9 UTSW 11 53,324,378 (GRCm39) missense possibly damaging 0.51
R9061:Gdf9 UTSW 11 53,324,269 (GRCm39) missense probably damaging 1.00
R9564:Gdf9 UTSW 11 53,327,511 (GRCm39) missense probably damaging 1.00
R9565:Gdf9 UTSW 11 53,327,511 (GRCm39) missense probably damaging 1.00
Z1176:Gdf9 UTSW 11 53,328,352 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16