Incidental Mutation 'R8742:Gdf10'
ID 663307
Institutional Source Beutler Lab
Gene Symbol Gdf10
Ensembl Gene ENSMUSG00000021943
Gene Name growth differentiation factor 10
Synonyms Bmp3b
MMRRC Submission 068587-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8742 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 33645544-33658471 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33654426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 311 (H311L)
Ref Sequence ENSEMBL: ENSMUSP00000128621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168727]
AlphaFold P97737
Predicted Effect probably benign
Transcript: ENSMUST00000168727
AA Change: H311L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128621
Gene: ENSMUSG00000021943
AA Change: H311L

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
low complexity region 56 67 N/A INTRINSIC
TGFB 374 476 1e-50 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.0%
Validation Efficiency 100% (55/55)
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 has been shown to promote neural repair after stroke and may act as a tumor suppressor. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for disruption of this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,265,835 (GRCm39) I893V probably benign Het
Adhfe1 A G 1: 9,630,401 (GRCm39) I317V probably benign Het
Adnp2 A G 18: 80,171,556 (GRCm39) V951A probably damaging Het
Ankrd35 T A 3: 96,586,502 (GRCm39) H59Q probably damaging Het
Atg16l1 C T 1: 87,694,620 (GRCm39) T161I probably damaging Het
Axl A G 7: 25,463,861 (GRCm39) V591A probably damaging Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Cdcp3 A G 7: 130,783,741 (GRCm39) I45V unknown Het
Ceacam13 T A 7: 17,743,934 (GRCm39) S14T probably damaging Het
Cfh A T 1: 140,029,390 (GRCm39) F986L probably damaging Het
Cfh G T 1: 140,064,469 (GRCm39) T393K probably damaging Het
Clic1 A G 17: 35,274,356 (GRCm39) N179S probably benign Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dst T A 1: 34,251,425 (GRCm39) D2159E probably benign Het
Epn3 T G 11: 94,386,921 (GRCm39) T150P probably damaging Het
Fgr T C 4: 132,724,828 (GRCm39) Y310H probably damaging Het
Filip1l A G 16: 57,391,593 (GRCm39) Y727C probably damaging Het
Fis1 G T 5: 136,982,365 (GRCm39) probably benign Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gphn C T 12: 78,659,766 (GRCm39) R423C probably damaging Het
Gpr132 T C 12: 112,819,517 (GRCm39) probably benign Het
Herc2 C A 7: 55,744,143 (GRCm39) T406K probably benign Het
Hpf1 T C 8: 61,346,748 (GRCm39) V21A probably benign Het
Ifitm6 A G 7: 140,596,008 (GRCm39) I75T probably benign Het
Itgax A T 7: 127,743,795 (GRCm39) H852L probably benign Het
Klhl3 T C 13: 58,159,021 (GRCm39) Y546C probably damaging Het
Lbr A G 1: 181,644,571 (GRCm39) L578P possibly damaging Het
Ltbp1 A G 17: 75,617,217 (GRCm39) Y734C probably damaging Het
Mapre2 C A 18: 24,016,688 (GRCm39) H281N probably benign Het
Mcm4 T C 16: 15,443,430 (GRCm39) D831G possibly damaging Het
Mlf1 G A 3: 67,305,119 (GRCm39) A207T probably damaging Het
Mslnl A T 17: 25,964,047 (GRCm39) I459F probably damaging Het
Mtnr1a A G 8: 45,540,720 (GRCm39) D227G probably benign Het
Ncapg T A 5: 45,851,216 (GRCm39) L803Q probably damaging Het
Nr3c2 T G 8: 77,635,210 (GRCm39) S104A probably damaging Het
Or4k52 A G 2: 111,610,910 (GRCm39) I82V probably benign Het
Pard3 C T 8: 128,050,592 (GRCm39) A218V possibly damaging Het
Poteg A T 8: 27,984,957 (GRCm39) N439Y possibly damaging Het
Pramel34 T A 5: 93,785,935 (GRCm39) D115V probably damaging Het
Ret A T 6: 118,155,484 (GRCm39) L404Q probably damaging Het
Ripk4 A T 16: 97,556,272 (GRCm39) V157D probably damaging Het
Rsf1 CGGCGGCGGCGGCGGCGGCGGC CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,121 (GRCm39) probably benign Het
Serinc1 A T 10: 57,395,895 (GRCm39) N298K probably benign Het
Sh3pxd2a G A 19: 47,275,073 (GRCm39) S230L probably benign Het
Shb G C 4: 45,458,319 (GRCm39) R282G probably benign Het
Skint11 T C 4: 114,051,922 (GRCm39) I90T probably damaging Het
Slc36a4 A G 9: 15,632,039 (GRCm39) T72A probably damaging Het
Slc38a9 T A 13: 112,865,818 (GRCm39) I505K probably damaging Het
Sprr3 C T 3: 92,364,307 (GRCm39) R179H possibly damaging Het
Syne1 A T 10: 5,058,661 (GRCm39) I7284N probably benign Het
Timeless A T 10: 128,083,107 (GRCm39) T648S probably benign Het
Trim44 A G 2: 102,230,521 (GRCm39) M170T possibly damaging Het
Trpm7 A G 2: 126,667,469 (GRCm39) F815L probably damaging Het
Uimc1 A G 13: 55,240,971 (GRCm39) L39S possibly damaging Het
Vmn2r13 T C 5: 109,304,263 (GRCm39) T723A probably benign Het
Vps11 A G 9: 44,267,070 (GRCm39) probably benign Het
Zp3r A T 1: 130,511,230 (GRCm39) C383S probably damaging Het
Other mutations in Gdf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02558:Gdf10 APN 14 33,645,937 (GRCm39) missense probably benign
IGL03203:Gdf10 APN 14 33,656,430 (GRCm39) missense possibly damaging 0.94
R0178:Gdf10 UTSW 14 33,646,058 (GRCm39) missense probably damaging 1.00
R0890:Gdf10 UTSW 14 33,654,113 (GRCm39) missense possibly damaging 0.57
R1218:Gdf10 UTSW 14 33,654,710 (GRCm39) missense probably benign 0.01
R1219:Gdf10 UTSW 14 33,654,710 (GRCm39) missense probably benign 0.01
R1221:Gdf10 UTSW 14 33,654,710 (GRCm39) missense probably benign 0.01
R1670:Gdf10 UTSW 14 33,654,000 (GRCm39) missense possibly damaging 0.92
R1956:Gdf10 UTSW 14 33,654,710 (GRCm39) missense probably benign 0.01
R1957:Gdf10 UTSW 14 33,654,710 (GRCm39) missense probably benign 0.01
R1958:Gdf10 UTSW 14 33,654,710 (GRCm39) missense probably benign 0.01
R2154:Gdf10 UTSW 14 33,656,346 (GRCm39) missense probably damaging 0.99
R2260:Gdf10 UTSW 14 33,654,234 (GRCm39) missense probably damaging 1.00
R2971:Gdf10 UTSW 14 33,646,148 (GRCm39) missense probably damaging 1.00
R3896:Gdf10 UTSW 14 33,656,438 (GRCm39) missense probably damaging 1.00
R4027:Gdf10 UTSW 14 33,654,572 (GRCm39) missense probably damaging 1.00
R4393:Gdf10 UTSW 14 33,654,695 (GRCm39) missense probably damaging 1.00
R4782:Gdf10 UTSW 14 33,653,870 (GRCm39) missense probably benign 0.00
R5436:Gdf10 UTSW 14 33,654,213 (GRCm39) missense probably damaging 0.97
R5829:Gdf10 UTSW 14 33,654,674 (GRCm39) missense probably damaging 0.99
R6387:Gdf10 UTSW 14 33,645,961 (GRCm39) missense probably benign 0.05
R8346:Gdf10 UTSW 14 33,653,802 (GRCm39) missense probably benign 0.00
R9086:Gdf10 UTSW 14 33,654,221 (GRCm39) missense probably damaging 1.00
R9517:Gdf10 UTSW 14 33,654,522 (GRCm39) missense probably benign 0.31
Z1088:Gdf10 UTSW 14 33,654,347 (GRCm39) missense probably damaging 1.00
Z1176:Gdf10 UTSW 14 33,654,489 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- GTGTAGCAGTGTCGCTACAG -3'
(R):5'- CCGATGTCTGCAAAATCCAC -3'

Sequencing Primer
(F):5'- GTGTCGCTACAGAGATACGACC -3'
(R):5'- GATGTCTGCAAAATCCACCTTCAGG -3'
Posted On 2021-03-08