Incidental Mutation 'R6394:Gdf9'
ID 515964
Institutional Source Beutler Lab
Gene Symbol Gdf9
Ensembl Gene ENSMUSG00000018238
Gene Name growth differentiation factor 9
Synonyms Gdf-9
MMRRC Submission 044543-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R6394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 53321850-53328731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53327524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 160 (Y160C)
Ref Sequence ENSEMBL: ENSMUSP00000018382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018382]
AlphaFold Q07105
Predicted Effect probably damaging
Transcript: ENSMUST00000018382
AA Change: Y160C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018382
Gene: ENSMUSG00000018238
AA Change: Y160C

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,760,029 (GRCm39) probably null Het
Alpi T A 1: 87,028,428 (GRCm39) Y154F possibly damaging Het
Als2 A T 1: 59,206,356 (GRCm39) F1635I probably damaging Het
Anxa1 C T 19: 20,361,213 (GRCm39) V60M probably damaging Het
Atp10b A G 11: 43,116,464 (GRCm39) Y937C probably damaging Het
Brd4 C A 17: 32,443,121 (GRCm39) E167* probably null Het
Cacna1h G A 17: 25,606,455 (GRCm39) T1048I probably benign Het
Ccdc113 A G 8: 96,283,820 (GRCm39) D298G probably benign Het
Cfap100 T A 6: 90,394,605 (GRCm39) N74I possibly damaging Het
Chd8 A T 14: 52,440,042 (GRCm39) H4Q possibly damaging Het
Clcn1 A G 6: 42,284,524 (GRCm39) T621A possibly damaging Het
Clcn1 A G 6: 42,290,172 (GRCm39) T843A possibly damaging Het
Clcn3 C T 8: 61,394,325 (GRCm39) R68Q probably damaging Het
Dcaf13 T A 15: 39,007,132 (GRCm39) N355K probably benign Het
Dnah6 A T 6: 73,132,401 (GRCm39) C1100* probably null Het
Dync2h1 A T 9: 7,168,331 (GRCm39) V428E probably damaging Het
E230025N22Rik T C 18: 36,819,839 (GRCm39) E317G probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Evc2 C A 5: 37,535,619 (GRCm39) D431E probably damaging Het
Gcm2 T G 13: 41,263,373 (GRCm39) T20P probably damaging Het
Gm8220 A G 14: 44,523,134 (GRCm39) probably benign Het
Gpalpp1 A T 14: 76,344,852 (GRCm39) S44T possibly damaging Het
Grip2 T C 6: 91,764,182 (GRCm39) Y134C probably damaging Het
Hephl1 A G 9: 14,985,397 (GRCm39) F753S probably benign Het
Herc1 A G 9: 66,302,341 (GRCm39) T727A probably damaging Het
Herc2 A G 7: 55,865,729 (GRCm39) E4232G probably damaging Het
Ifi207 A G 1: 173,556,581 (GRCm39) L726P probably benign Het
Itga11 T A 9: 62,642,548 (GRCm39) probably null Het
Jrkl A C 9: 13,245,495 (GRCm39) Y55* probably null Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Kif18b A G 11: 102,805,236 (GRCm39) V303A probably damaging Het
Klhl29 A T 12: 5,144,830 (GRCm39) C423* probably null Het
Klhl29 T C 12: 5,187,720 (GRCm39) S215G probably benign Het
Lamp5 A G 2: 135,902,929 (GRCm39) D216G possibly damaging Het
Leo1 T A 9: 75,352,752 (GRCm39) D98E probably benign Het
Map3k3 T C 11: 106,039,709 (GRCm39) V283A probably benign Het
Med12l A G 3: 59,142,508 (GRCm39) K902E probably damaging Het
Mmp1b C A 9: 7,386,316 (GRCm39) D202Y probably benign Het
Muc21 A T 17: 35,931,058 (GRCm39) probably benign Het
Onecut3 A G 10: 80,331,847 (GRCm39) I336V probably damaging Het
Oprl1 C T 2: 181,360,795 (GRCm39) R257C probably damaging Het
Or10g9 T C 9: 39,912,001 (GRCm39) Q174R probably benign Het
Or10h1 G A 17: 33,418,487 (GRCm39) G155D probably damaging Het
Or4c11b C T 2: 88,625,296 (GRCm39) T190I probably benign Het
Or56b1 T A 7: 104,284,909 (GRCm39) N9K possibly damaging Het
Or56b1 T C 7: 104,285,234 (GRCm39) S118P possibly damaging Het
Or5p64 C T 7: 107,854,970 (GRCm39) R125H possibly damaging Het
Or6c69 G T 10: 129,747,789 (GRCm39) D119E probably damaging Het
Osbpl6 T C 2: 76,386,298 (GRCm39) V207A probably benign Het
Pde3a A T 6: 141,433,237 (GRCm39) H756L probably damaging Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Phyh A G 2: 4,940,814 (GRCm39) D238G probably benign Het
Pnliprp2 T A 19: 58,750,030 (GRCm39) N92K probably benign Het
Pole3 T C 4: 62,442,263 (GRCm39) probably benign Het
Ppm1d T C 11: 85,230,498 (GRCm39) V372A probably benign Het
Prpf40a A T 2: 53,034,890 (GRCm39) I766N probably damaging Het
Prr5 T A 15: 84,583,925 (GRCm39) V175E probably damaging Het
Prss59 A T 6: 40,898,726 (GRCm39) L174* probably null Het
Ptprq T A 10: 107,478,804 (GRCm39) K1280* probably null Het
Rbp2 T A 9: 98,389,873 (GRCm39) V95E possibly damaging Het
Rictor T C 15: 6,798,790 (GRCm39) F346L possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Scn10a T A 9: 119,490,386 (GRCm39) I519F probably benign Het
Setd5 T G 6: 113,092,505 (GRCm39) V295G probably damaging Het
Shcbp1 A T 8: 4,786,176 (GRCm39) M642K probably damaging Het
Slc13a3 C T 2: 165,276,017 (GRCm39) G243E probably damaging Het
Smg9 T C 7: 24,121,732 (GRCm39) Y498H probably damaging Het
Sox5 T C 6: 143,987,039 (GRCm39) D175G probably damaging Het
Stard7 A G 2: 127,126,161 (GRCm39) D71G probably damaging Het
Stxbp5 A T 10: 9,774,975 (GRCm39) Y59* probably null Het
Supt6 G A 11: 78,121,891 (GRCm39) R254C probably damaging Het
Syne2 C T 12: 76,037,269 (GRCm39) T3817I probably benign Het
Tas2r124 T A 6: 132,732,039 (GRCm39) I116N probably damaging Het
Trim9 T A 12: 70,301,987 (GRCm39) E550D possibly damaging Het
Vmn2r50 A G 7: 9,774,253 (GRCm39) S548P probably damaging Het
Zmynd8 C A 2: 165,687,943 (GRCm39) E126* probably null Het
Zswim9 A T 7: 12,994,889 (GRCm39) S422R 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
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'- TAGGCCAAGTACTAATTCCTCGG -3'
(R):5'- CACCTGGTCTTTTGTGCATG -3'

Sequencing Primer
(F):5'- AAGTACTAATTCCTCGGTCTCAC -3'
(R):5'- TTGACAGACAGGTGAATGCTCCTC -3'
Posted On 2018-05-04