Incidental Mutation 'IGL02973:Foxc2'
ID 365898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxc2
Ensembl Gene ENSMUSG00000046714
Gene Name forkhead box C2
Synonyms Fkh14, Mfh1, MFH-1, Hfhbf3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02973
Quality Score
Status
Chromosome 8
Chromosomal Location 121842910-121845634 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121844788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 479 (S479P)
Ref Sequence ENSEMBL: ENSMUSP00000055290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054691] [ENSMUST00000127664]
AlphaFold Q61850
Predicted Effect probably benign
Transcript: ENSMUST00000054691
AA Change: S479P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055290
Gene: ENSMUSG00000046714
AA Change: S479P

DomainStartEndE-ValueType
FH 69 159 2.11e-63 SMART
low complexity region 162 179 N/A INTRINSIC
low complexity region 203 220 N/A INTRINSIC
low complexity region 288 312 N/A INTRINSIC
low complexity region 379 417 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die perinatally or before with cardiac abnormalities and skeletal defects in the neurocranium and spine. Heterozygotes exhibit lymphatic vessel and lymph node hyperplasia, anterior segment defects, and distichiasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,573,053 (GRCm39) L193P probably benign Het
Ago2 A T 15: 72,995,314 (GRCm39) probably benign Het
Ankrd26 A G 6: 118,500,511 (GRCm39) S987P probably damaging Het
Ap2a2 T C 7: 141,211,277 (GRCm39) F938L possibly damaging Het
Arhgap35 A G 7: 16,296,803 (GRCm39) V754A possibly damaging Het
Atp10b A T 11: 43,088,336 (GRCm39) N314I probably damaging Het
Atp5f1a T C 18: 77,867,849 (GRCm39) V291A probably damaging Het
Ccm2 C A 11: 6,534,544 (GRCm39) P19T probably damaging Het
Cdc5l C A 17: 45,715,573 (GRCm39) A680S probably benign Het
Cds1 A G 5: 101,960,376 (GRCm39) T276A probably damaging Het
Cit A G 5: 116,144,058 (GRCm39) R1976G possibly damaging Het
Col6a5 T C 9: 105,803,020 (GRCm39) D1315G unknown Het
Emilin1 T G 5: 31,078,007 (GRCm39) L922R probably damaging Het
Fank1 T C 7: 133,478,578 (GRCm39) L213P probably damaging Het
Golgb1 G A 16: 36,732,442 (GRCm39) R563H possibly damaging Het
Hoxb13 A G 11: 96,085,669 (GRCm39) Y134C probably damaging Het
Krtap4-16 A T 11: 99,742,167 (GRCm39) C78S possibly damaging Het
Lars1 C T 18: 42,347,824 (GRCm39) probably null Het
Lipe T C 7: 25,083,057 (GRCm39) N740S probably damaging Het
Mbd1 C T 18: 74,408,498 (GRCm39) probably benign Het
Mbd5 A G 2: 49,203,721 (GRCm39) D1700G probably damaging Het
Mpp7 A G 18: 7,403,297 (GRCm39) Y338H probably damaging Het
Pdgfrl A G 8: 41,438,631 (GRCm39) D189G probably damaging Het
Pira12 T C 7: 3,900,239 (GRCm39) Y121C probably damaging Het
Plxnc1 T C 10: 94,646,546 (GRCm39) N1293S probably damaging Het
Ppm1e C A 11: 87,131,488 (GRCm39) A302S probably damaging Het
Rassf8 A G 6: 145,762,916 (GRCm39) probably benign Het
Rttn T C 18: 88,990,618 (GRCm39) W52R probably damaging Het
Skint8 T C 4: 111,796,790 (GRCm39) V298A probably benign Het
Tulp1 A T 17: 28,577,516 (GRCm39) probably benign Het
Unc5c T A 3: 141,494,651 (GRCm39) D321E probably benign Het
Usp16 G A 16: 87,276,627 (GRCm39) C654Y probably damaging Het
Vwce G A 19: 10,632,764 (GRCm39) W575* probably null Het
Wdr89 T G 12: 75,679,873 (GRCm39) D127A probably damaging Het
Zc3h6 G A 2: 128,839,715 (GRCm39) R176Q probably damaging Het
Zfp942 A G 17: 22,151,972 (GRCm39) probably null Het
Other mutations in Foxc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02612:Foxc2 APN 8 121,844,576 (GRCm39) missense probably benign 0.10
R0211:Foxc2 UTSW 8 121,843,355 (GRCm39) start codon destroyed probably null 0.77
R0477:Foxc2 UTSW 8 121,844,774 (GRCm39) missense probably damaging 0.99
R1589:Foxc2 UTSW 8 121,843,915 (GRCm39) missense probably benign
R1859:Foxc2 UTSW 8 121,843,364 (GRCm39) missense probably damaging 0.98
R1965:Foxc2 UTSW 8 121,843,413 (GRCm39) missense probably damaging 0.99
R2104:Foxc2 UTSW 8 121,844,819 (GRCm39) missense probably damaging 1.00
R4274:Foxc2 UTSW 8 121,844,439 (GRCm39) missense probably benign 0.30
R4392:Foxc2 UTSW 8 121,844,191 (GRCm39) missense probably damaging 0.98
R7678:Foxc2 UTSW 8 121,844,834 (GRCm39) missense probably damaging 1.00
R7707:Foxc2 UTSW 8 121,844,641 (GRCm39) missense probably benign 0.00
R8123:Foxc2 UTSW 8 121,843,601 (GRCm39) missense probably damaging 1.00
R8234:Foxc2 UTSW 8 121,844,777 (GRCm39) missense probably damaging 0.99
Z1088:Foxc2 UTSW 8 121,843,889 (GRCm39) missense probably damaging 0.99
Z1088:Foxc2 UTSW 8 121,843,698 (GRCm39) missense possibly damaging 0.95
Posted On 2015-12-18