Incidental Mutation 'R5391:Gdf9'
ID 425864
Institutional Source Beutler Lab
Gene Symbol Gdf9
Ensembl Gene ENSMUSG00000018238
Gene Name growth differentiation factor 9
Synonyms Gdf-9
MMRRC Submission 042963-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R5391 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 53321850-53328731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53324624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 131 (V131A)
Ref Sequence ENSEMBL: ENSMUSP00000018382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018382] [ENSMUST00000061326] [ENSMUST00000109019] [ENSMUST00000109021]
AlphaFold Q07105
Predicted Effect probably benign
Transcript: ENSMUST00000018382
AA Change: V131A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018382
Gene: ENSMUSG00000018238
AA Change: V131A

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
TGFB 340 441 3.16e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000061326
SMART Domains Protein: ENSMUSP00000053145
Gene: ENSMUSG00000044894

DomainStartEndE-ValueType
Pfam:UcrQ 2 81 3.7e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109019
Predicted Effect probably benign
Transcript: ENSMUST00000109021
SMART Domains Protein: ENSMUSP00000104649
Gene: ENSMUSG00000044894

DomainStartEndE-ValueType
Pfam:UcrQ 2 81 3.7e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156503
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,855,481 (GRCm39) M38I probably null Het
Actl7a A G 4: 56,743,661 (GRCm39) T63A probably benign Het
Amfr G A 8: 94,702,676 (GRCm39) P497S probably damaging Het
Ankrd33b T C 15: 31,325,352 (GRCm39) I122V probably damaging Het
Asap1 G T 15: 63,965,901 (GRCm39) T1011K possibly damaging Het
Cbfa2t3 G A 8: 123,360,134 (GRCm39) R506* probably null Het
Ccs C G 19: 4,883,510 (GRCm39) C96S probably benign Het
Cpt1a A G 19: 3,399,260 (GRCm39) D20G probably damaging Het
Ctdspl2 G A 2: 121,834,629 (GRCm39) probably null Het
Dhx57 T C 17: 80,582,510 (GRCm39) Y365C probably damaging Het
Dnah3 C T 7: 119,689,299 (GRCm39) M38I probably benign Het
Dnajc6 T C 4: 101,485,355 (GRCm39) probably null Het
Elac2 A G 11: 64,885,120 (GRCm39) S450G probably benign Het
Il12rb2 T C 6: 67,269,404 (GRCm39) N803S probably benign Het
Itgb4 T A 11: 115,875,894 (GRCm39) M477K probably benign Het
Itgb8 A C 12: 119,134,476 (GRCm39) C530W probably damaging Het
Krt78 C A 15: 101,860,263 (GRCm39) E218* probably null Het
Lpar1 A G 4: 58,486,902 (GRCm39) L105P probably damaging Het
Megf8 G A 7: 25,039,714 (GRCm39) G936D possibly damaging Het
Mov10 G A 3: 104,709,849 (GRCm39) H346Y probably benign Het
Nfia A G 4: 97,671,538 (GRCm39) I83V probably damaging Het
Or5b101 G T 19: 13,005,150 (GRCm39) A181E probably damaging Het
Or6d15 T C 6: 116,559,808 (GRCm39) Y33C probably damaging Het
Pcdhgb6 T G 18: 37,875,640 (GRCm39) I116S probably damaging Het
Pdcd6ip G T 9: 113,520,586 (GRCm39) Q133K probably damaging Het
Phkb A G 8: 86,744,097 (GRCm39) D582G probably damaging Het
Pik3cd A T 4: 149,743,588 (GRCm39) V207E probably damaging Het
Ptov1 T C 7: 44,513,008 (GRCm39) Q397R probably damaging Het
Rangap1 A G 15: 81,590,647 (GRCm39) F482L probably benign Het
Rapgef1 T A 2: 29,627,977 (GRCm39) N1052K probably damaging Het
Rasl12 G T 9: 65,305,949 (GRCm39) A35S probably damaging Het
Rnf169 A T 7: 99,584,367 (GRCm39) probably null Het
Sec16a A G 2: 26,330,044 (GRCm39) V657A possibly damaging Het
Sin3a G A 9: 57,012,957 (GRCm39) R612H probably damaging Het
Six6 T A 12: 72,988,475 (GRCm39) L216* probably null Het
Tbce T C 13: 14,180,550 (GRCm39) I293M probably damaging Het
Tektl1 G A 10: 78,588,688 (GRCm39) Q41* probably null Het
Tmem176a T C 6: 48,821,630 (GRCm39) L204P probably damaging Het
Tmem87a A G 2: 120,193,358 (GRCm39) probably null Het
Tns1 A T 1: 74,029,568 (GRCm39) probably null Het
Usf3 T A 16: 44,037,826 (GRCm39) S769T probably benign Het
Vmn2r82 A G 10: 79,192,491 (GRCm39) T23A probably null Het
Vps26a A G 10: 62,292,526 (GRCm39) *328Q probably null Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wwc2 A T 8: 48,316,906 (GRCm39) I729K unknown Het
Zbtb44 A G 9: 30,964,601 (GRCm39) probably null Het
Zfp800 A T 6: 28,242,992 (GRCm39) S658T probably damaging Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Zfp935 G T 13: 62,602,632 (GRCm39) Y189* probably null Het
Zkscan1 T A 5: 138,095,363 (GRCm39) H203Q probably benign Het
Zkscan14 T C 5: 145,132,604 (GRCm39) D309G probably benign Het
Other mutations in Gdf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02148:Gdf9 APN 11 53,327,569 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- TCTATCTGATAGGCGAGGTGAGAC -3'
(R):5'- GTTGGACACTGAGAATCATGC -3'

Sequencing Primer
(F):5'- TGAGACCCCTAAGCTGCAG -3'
(R):5'- TGATTCCAGTACTTAAGGAGCCG -3'
Posted On 2016-08-04