Incidental Mutation 'IGL02558:Gdf10'
ID 298387
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdf10
Ensembl Gene ENSMUSG00000021943
Gene Name growth differentiation factor 10
Synonyms Bmp3b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02558
Quality Score
Status
Chromosome 14
Chromosomal Location 33645544-33658471 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 33645937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 29 (C29G)
Ref Sequence ENSEMBL: ENSMUSP00000128621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168727]
AlphaFold P97737
Predicted Effect probably benign
Transcript: ENSMUST00000168727
AA Change: C29G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128621
Gene: ENSMUSG00000021943
AA Change: C29G

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
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 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A C 5: 3,632,194 (GRCm39) *25C probably null Het
Abca13 T C 11: 9,349,387 (GRCm39) Y3654H probably damaging Het
Ankle1 T C 8: 71,861,636 (GRCm39) F438S probably damaging Het
Atp10a A T 7: 58,469,390 (GRCm39) R1080S probably damaging Het
Ccdc51 A T 9: 108,921,252 (GRCm39) N380Y probably damaging Het
Ccr8 A T 9: 119,923,724 (GRCm39) I280F probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cep162 T C 9: 87,107,786 (GRCm39) T535A probably benign Het
Cep162 G T 9: 87,107,779 (GRCm39) T537N probably benign Het
Cfap52 T C 11: 67,844,964 (GRCm39) D35G probably benign Het
Cmip G A 8: 118,175,827 (GRCm39) S530N probably damaging Het
Col9a3 A T 2: 180,248,599 (GRCm39) probably null Het
Csf3r T C 4: 125,931,928 (GRCm39) probably benign Het
Csk C T 9: 57,537,546 (GRCm39) E123K probably benign Het
Csrnp3 G A 2: 65,852,573 (GRCm39) E322K probably damaging Het
Ddx11 A T 17: 66,455,667 (GRCm39) I663F probably damaging Het
Dnah1 T A 14: 30,996,336 (GRCm39) M2667L possibly damaging Het
Foxred1 T C 9: 35,121,429 (GRCm39) K40E probably damaging Het
Gata2 C T 6: 88,176,762 (GRCm39) P74S probably benign Het
Hectd4 A G 5: 121,482,848 (GRCm39) E3133G probably benign Het
Ints8 G A 4: 11,218,771 (GRCm39) R784W probably damaging Het
Lrriq1 T C 10: 102,982,144 (GRCm39) E1392G probably damaging Het
Muc19 T C 15: 91,781,816 (GRCm39) noncoding transcript Het
Myom2 A T 8: 15,164,237 (GRCm39) D1044V probably benign Het
Nphp4 G T 4: 152,639,988 (GRCm39) R958L probably damaging Het
Nup205 C T 6: 35,166,859 (GRCm39) P293S probably damaging Het
Or10ag60 T C 2: 87,437,903 (GRCm39) I57T probably benign Het
Or1e17 A T 11: 73,831,651 (GRCm39) H193L probably benign Het
Plxdc2 A G 2: 16,674,409 (GRCm39) probably benign Het
Pwp2 T C 10: 78,014,899 (GRCm39) S362G probably damaging Het
Siglec1 G T 2: 130,916,915 (GRCm39) S1113R possibly damaging Het
Sirpa A G 2: 129,471,989 (GRCm39) E472G probably damaging Het
Slc39a4 G T 15: 76,498,403 (GRCm39) L345M probably damaging Het
Snx27 C T 3: 94,410,188 (GRCm39) R496Q probably damaging Het
Stard9 A G 2: 120,527,388 (GRCm39) H1215R possibly damaging Het
Stau1 A G 2: 166,792,768 (GRCm39) Y371H probably benign Het
Sult2a1 A C 7: 13,566,520 (GRCm39) W152G probably benign Het
Syt16 A T 12: 74,281,832 (GRCm39) K319* probably null Het
Tcf7 T A 11: 52,144,797 (GRCm39) probably benign Het
Tfdp1 A G 8: 13,419,546 (GRCm39) N92D possibly damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Gdf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8742:Gdf10 UTSW 14 33,654,426 (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
Posted On 2015-04-16