Incidental Mutation 'IGL03167:Foxf1'
ID 411686
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxf1
Ensembl Gene ENSMUSG00000042812
Gene Name forkhead box F1
Synonyms Foxf1a, HFH-8, Freac-1, Foxf1, Hfh8, FREAC1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03167
Quality Score
Status
Chromosome 8
Chromosomal Location 121811125-121814883 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 121811647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 170 (Y170*)
Ref Sequence ENSEMBL: ENSMUSP00000137662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127664] [ENSMUST00000181504]
AlphaFold Q61080
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
Predicted Effect probably null
Transcript: ENSMUST00000181504
AA Change: Y170*
SMART Domains Protein: ENSMUSP00000137662
Gene: ENSMUSG00000042812
AA Change: Y170*

DomainStartEndE-ValueType
low complexity region 12 42 N/A INTRINSIC
FH 46 136 6.02e-59 SMART
low complexity region 137 146 N/A INTRINSIC
low complexity region 217 230 N/A INTRINSIC
low complexity region 263 276 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184096
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 forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in mid-gestation lethality, defects in extraembryonic and lateral plate mesoderm differentiation, failure of embryo turning, absence of yolk sac and allantois vasculogenesis, retarded somite and posterior embryo development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A C 6: 34,834,594 (GRCm39) K921T possibly damaging Het
Agtpbp1 A T 13: 59,679,894 (GRCm39) probably benign Het
Ankrd22 A T 19: 34,143,174 (GRCm39) M1K probably null Het
Ano5 G A 7: 51,235,259 (GRCm39) V698I probably damaging Het
Ccnh A G 13: 85,345,685 (GRCm39) probably benign Het
Col15a1 A T 4: 47,282,635 (GRCm39) I771F probably damaging Het
Dmrt1 T C 19: 25,523,257 (GRCm39) S203P possibly damaging Het
Exoc5 A T 14: 49,288,802 (GRCm39) V82E probably damaging Het
Ffar3 A T 7: 30,554,780 (GRCm39) V180E probably damaging Het
Fhad1 T C 4: 141,700,108 (GRCm39) S381G probably benign Het
Glis1 A G 4: 107,293,102 (GRCm39) D75G possibly damaging Het
Gpr151 T C 18: 42,711,439 (GRCm39) H413R probably benign Het
Gtf3c1 T C 7: 125,269,752 (GRCm39) probably null Het
Htt T A 5: 34,976,330 (GRCm39) F711I probably damaging Het
Il1rapl1 A G X: 85,790,867 (GRCm39) I691T possibly damaging Het
Iqgap2 T C 13: 95,821,406 (GRCm39) Y579C probably benign Het
Lingo3 A G 10: 80,671,178 (GRCm39) S251P probably damaging Het
Mbl1 T A 14: 40,880,543 (GRCm39) S144T probably benign Het
Musk A T 4: 58,366,821 (GRCm39) R462W possibly damaging Het
Mynn T C 3: 30,663,191 (GRCm39) L373P probably damaging Het
Myoz2 G A 3: 122,800,139 (GRCm39) R230* probably null Het
Nup35 A G 2: 80,488,660 (GRCm39) probably benign Het
Or14a259 C T 7: 86,013,128 (GRCm39) C139Y probably damaging Het
Or2d4 A G 7: 106,543,852 (GRCm39) S119P probably damaging Het
Or5ak4 C T 2: 85,161,664 (GRCm39) D193N probably benign Het
Or5m3 T A 2: 85,838,511 (GRCm39) Y130* probably null Het
Pira2 A T 7: 3,843,919 (GRCm39) S618T probably damaging Het
Plch1 G A 3: 63,630,165 (GRCm39) probably benign Het
Pparg T G 6: 115,450,188 (GRCm39) F396V probably damaging Het
Scaper T C 9: 55,767,108 (GRCm39) E441G probably damaging Het
Serpinb2 T A 1: 107,450,485 (GRCm39) C161S probably benign Het
Skint5 C T 4: 113,751,047 (GRCm39) E333K unknown Het
Slc22a8 C T 19: 8,587,322 (GRCm39) P461S probably damaging Het
Slc38a6 C T 12: 73,397,311 (GRCm39) Q318* probably null Het
Sycp2 T C 2: 178,021,291 (GRCm39) K512E probably damaging Het
Tas2r103 T A 6: 133,013,623 (GRCm39) N148Y probably damaging Het
Tcf7l1 A G 6: 72,609,979 (GRCm39) M257T possibly damaging Het
Tert T A 13: 73,788,119 (GRCm39) N792K probably damaging Het
Thada A T 17: 84,766,277 (GRCm39) V43E probably damaging Het
Trabd2b T C 4: 114,467,195 (GRCm39) S475P probably benign Het
Vmn2r117 A G 17: 23,696,681 (GRCm39) V242A probably damaging Het
Ypel3 A T 7: 126,379,247 (GRCm39) I107F probably damaging Het
Zfp352 T C 4: 90,112,939 (GRCm39) S360P probably damaging Het
Other mutations in Foxf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02040:Foxf1 APN 8 121,812,084 (GRCm39) missense probably damaging 0.99
IGL02113:Foxf1 APN 8 121,811,304 (GRCm39) missense probably damaging 1.00
R0359:Foxf1 UTSW 8 121,811,742 (GRCm39) missense possibly damaging 0.69
R0621:Foxf1 UTSW 8 121,811,919 (GRCm39) missense probably damaging 0.98
R1523:Foxf1 UTSW 8 121,811,297 (GRCm39) splice site probably null
R4854:Foxf1 UTSW 8 121,813,553 (GRCm39) missense probably benign
R5435:Foxf1 UTSW 8 121,811,231 (GRCm39) missense probably damaging 0.99
R6423:Foxf1 UTSW 8 121,811,834 (GRCm39) missense possibly damaging 0.90
R7582:Foxf1 UTSW 8 121,811,430 (GRCm39) missense possibly damaging 0.94
R7853:Foxf1 UTSW 8 121,811,438 (GRCm39) missense probably damaging 0.99
R8095:Foxf1 UTSW 8 121,813,551 (GRCm39) missense probably benign 0.01
R8168:Foxf1 UTSW 8 121,811,901 (GRCm39) missense probably damaging 0.98
R8841:Foxf1 UTSW 8 121,811,919 (GRCm39) missense probably damaging 0.98
R9232:Foxf1 UTSW 8 121,811,715 (GRCm39) missense possibly damaging 0.95
Z1176:Foxf1 UTSW 8 121,811,268 (GRCm39) missense probably damaging 0.99
Z1177:Foxf1 UTSW 8 121,811,174 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02