Incidental Mutation 'R7171:Gdf9'
ID 558286
Institutional Source Beutler Lab
Gene Symbol Gdf9
Ensembl Gene ENSMUSG00000018238
Gene Name growth differentiation factor 9
Synonyms Gdf-9
MMRRC Submission 045230-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R7171 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 53321850-53328731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53328366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 441 (R441C)
Ref Sequence ENSEMBL: ENSMUSP00000018382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018382]
AlphaFold Q07105
Predicted Effect probably damaging
Transcript: ENSMUST00000018382
AA Change: R441C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018382
Gene: ENSMUSG00000018238
AA Change: R441C

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
TGFB 340 441 3.16e-48 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (81/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik T C 2: 154,454,897 (GRCm39) N154S unknown Het
Ank3 C T 10: 69,828,311 (GRCm39) H2327Y Het
Ano6 A G 15: 95,818,172 (GRCm39) Y305C probably damaging Het
Apc2 A G 10: 80,151,170 (GRCm39) T2075A possibly damaging Het
Arl6 A G 16: 59,443,455 (GRCm39) V93A possibly damaging Het
Bcas3 T C 11: 85,474,763 (GRCm39) S790P probably damaging Het
Bcl9l C A 9: 44,416,448 (GRCm39) H211N probably benign Het
Bptf G T 11: 107,022,233 (GRCm39) D172E unknown Het
Card9 T G 2: 26,249,496 (GRCm39) I22L possibly damaging Het
Catsperg1 C A 7: 28,884,637 (GRCm39) G933V probably damaging Het
Catsperg2 T A 7: 29,404,750 (GRCm39) H771L possibly damaging Het
Ccdc66 T C 14: 27,215,229 (GRCm39) N281S possibly damaging Het
Cfap54 A T 10: 92,612,072 (GRCm39) L3162H probably damaging Het
Clca4a A G 3: 144,663,934 (GRCm39) L503P probably benign Het
Cpn1 T C 19: 43,962,470 (GRCm39) N160D probably damaging Het
Ctsh T A 9: 89,949,154 (GRCm39) I206K probably benign Het
Cyb561d1 G A 3: 108,106,679 (GRCm39) T180M probably damaging Het
Dapk1 A T 13: 60,909,599 (GRCm39) D1404V probably damaging Het
Dip2c G T 13: 9,556,684 (GRCm39) R76L probably benign Het
Dnah7c T C 1: 46,719,898 (GRCm39) I2783T probably damaging Het
E130308A19Rik T C 4: 59,690,333 (GRCm39) Y56H probably damaging Het
Efemp2 G T 19: 5,530,285 (GRCm39) A310S probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Faap24 G A 7: 35,092,279 (GRCm39) Q213* probably null Het
Fam181b G A 7: 92,729,943 (GRCm39) G239S possibly damaging Het
Fancm T C 12: 65,148,394 (GRCm39) W670R probably damaging Het
Fcgbpl1 T A 7: 27,853,944 (GRCm39) L1636* probably null Het
Fmnl1 T C 11: 103,081,224 (GRCm39) Y357H probably damaging Het
Fryl A T 5: 73,279,653 (GRCm39) V215E probably damaging Het
Fscn2 C A 11: 120,253,335 (GRCm39) N267K probably damaging Het
Fsip2 T A 2: 82,816,571 (GRCm39) Y4101* probably null Het
Gcn1 G A 5: 115,728,352 (GRCm39) V738I probably benign Het
Gipc3 C T 10: 81,177,455 (GRCm39) G79E probably damaging Het
Gzmf T A 14: 56,443,391 (GRCm39) I196L probably benign Het
Hectd1 A T 12: 51,806,080 (GRCm39) V1852E probably damaging Het
Hip1r A T 5: 124,134,007 (GRCm39) Q256L probably benign Het
Hmgxb4 T C 8: 75,746,890 (GRCm39) S405P probably damaging Het
Il9r T A 11: 32,142,671 (GRCm39) H294L probably benign Het
Kif12 G A 4: 63,086,931 (GRCm39) T331I probably damaging Het
Krtap8-1 A T 16: 89,284,794 (GRCm39) M1K probably null Het
Lamc2 A T 1: 153,015,495 (GRCm39) C613S probably damaging Het
Lgr4 T A 2: 109,831,314 (GRCm39) N314K probably benign Het
Lpcat2 T C 8: 93,635,894 (GRCm39) I432T probably benign Het
Mfhas1 T C 8: 36,056,146 (GRCm39) V207A probably benign Het
Msh3 T G 13: 92,485,806 (GRCm39) T173P probably benign Het
Mup15 T A 4: 61,356,505 (GRCm39) M87L probably benign Het
N4bp2 T C 5: 65,965,365 (GRCm39) V1138A probably benign Het
Noc2l T C 4: 156,326,179 (GRCm39) V422A probably benign Het
Notch3 C T 17: 32,377,936 (GRCm39) G74D probably damaging Het
Ocstamp T A 2: 165,240,081 (GRCm39) K35I probably benign Het
Or12k7 T C 2: 36,958,400 (GRCm39) F28L possibly damaging Het
Or52w1 A G 7: 105,017,968 (GRCm39) H145R probably benign Het
Or5p58 A G 7: 107,694,342 (GRCm39) V145A probably benign Het
Or9a2 T G 6: 41,748,961 (GRCm39) T91P probably benign Het
Plekhh2 T A 17: 84,829,216 (GRCm39) V29D probably damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Rad54l2 C T 9: 106,590,677 (GRCm39) R483H probably damaging Het
Rapgef6 T A 11: 54,567,189 (GRCm39) D1128E possibly damaging Het
Rhbdl2 T A 4: 123,708,049 (GRCm39) I86N possibly damaging Het
Rims1 C A 1: 22,498,740 (GRCm39) R68L Het
Rnf157 A G 11: 116,253,199 (GRCm39) F70L possibly damaging Het
Rtp3 C T 9: 110,815,009 (GRCm39) C452Y unknown Het
S100a14 A T 3: 90,435,069 (GRCm39) K27* probably null Het
Scai C T 2: 38,996,948 (GRCm39) G282D possibly damaging Het
Sclt1 A T 3: 41,672,195 (GRCm39) I132N probably benign Het
Serpinf1 T A 11: 75,308,811 (GRCm39) Q2L possibly damaging Het
Skor2 T A 18: 76,948,681 (GRCm39) V801E probably benign Het
Slc16a10 C G 10: 39,913,255 (GRCm39) E484D probably benign Het
Slc1a5 T A 7: 16,531,463 (GRCm39) D489E probably damaging Het
Slx4 C T 16: 3,808,650 (GRCm39) R430H probably benign Het
Teddm1b A T 1: 153,750,679 (GRCm39) I163F probably damaging Het
Tmem171 A T 13: 98,828,744 (GRCm39) C135* probably null Het
Tmem82 C T 4: 141,342,284 (GRCm39) R306H possibly damaging Het
Tmem94 T A 11: 115,681,781 (GRCm39) probably null Het
Trpm2 A C 10: 77,759,848 (GRCm39) L1096R probably damaging Het
Trrap T A 5: 144,730,859 (GRCm39) L780Q probably damaging Het
Txlnb A G 10: 17,718,732 (GRCm39) D521G probably benign Het
Usp7 T C 16: 8,534,390 (GRCm39) D59G probably benign Het
Vcan G A 13: 89,873,710 (GRCm39) T48I probably damaging Het
Vmn1r45 A G 6: 89,910,316 (GRCm39) L218P probably damaging Het
Wdr25 A T 12: 108,990,922 (GRCm39) T370S probably damaging 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
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
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'- TGTAAAGGGGACTGTCCTAGG -3'
(R):5'- TGTGCCCTTTACACCTACGG -3'

Sequencing Primer
(F):5'- GTACGGCTCTCCTGTGCAC -3'
(R):5'- TACGGACACTGCACTCGATG -3'
Posted On 2019-06-26