Incidental Mutation 'R8095:Foxf1'
ID 630151
Institutional Source Beutler Lab
Gene Symbol Foxf1
Ensembl Gene ENSMUSG00000042812
Gene Name forkhead box F1
Synonyms Foxf1a, HFH-8, Freac-1, Foxf1, Hfh8, FREAC1
MMRRC Submission 067527-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8095 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 121811125-121814883 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121813551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 357 (T357I)
Ref Sequence ENSEMBL: ENSMUSP00000137662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047282] [ENSMUST00000127664] [ENSMUST00000181504]
AlphaFold Q61080
Predicted Effect probably benign
Transcript: ENSMUST00000047282
SMART Domains Protein: ENSMUSP00000044172
Gene: ENSMUSG00000031816

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 1 187 1.1e-31 PFAM
RRM 278 346 2.27e-4 SMART
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 benign
Transcript: ENSMUST00000181504
AA Change: T357I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000137662
Gene: ENSMUSG00000042812
AA Change: T357I

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.1%
  • 20x: 97.6%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,536,196 (GRCm39) I490M possibly damaging Het
Abcc9 T C 6: 142,590,048 (GRCm39) I817V probably benign Het
Atp11b T C 3: 35,888,565 (GRCm39) L945P probably damaging Het
Coa8 C A 12: 111,689,218 (GRCm39) A100D probably damaging Het
Crem T C 18: 3,295,106 (GRCm39) T108A probably benign Het
Cttnbp2 T A 6: 18,435,432 (GRCm39) K142M probably damaging Het
Cyp51 C T 5: 4,136,490 (GRCm39) E435K probably benign Het
Dnah14 G T 1: 181,633,597 (GRCm39) E11* probably null Het
Dpy19l1 T C 9: 24,396,160 (GRCm39) probably null Het
Dym A G 18: 75,247,872 (GRCm39) T259A possibly damaging Het
E030018B13Rik T G 7: 63,569,049 (GRCm39) H32Q unknown Het
Ehmt2 T G 17: 35,126,745 (GRCm39) H809Q probably damaging Het
Fabp6 G A 11: 43,489,543 (GRCm39) R33C probably damaging Het
Fam98a C A 17: 75,845,766 (GRCm39) D327Y probably damaging Het
Foxh1 T A 15: 76,553,208 (GRCm39) R169* probably null Het
Hydin T C 8: 111,295,991 (GRCm39) F3568S probably damaging Het
Il22 T C 10: 118,041,028 (GRCm39) S45P possibly damaging Het
Isyna1 C A 8: 71,049,035 (GRCm39) Y371* probably null Het
Lingo3 T C 10: 80,671,255 (GRCm39) H225R probably benign Het
Lmo7 T A 14: 102,124,855 (GRCm39) V560E possibly damaging Het
Mab21l2 A G 3: 86,454,769 (GRCm39) V77A probably benign Het
Mapkbp1 A G 2: 119,848,131 (GRCm39) K595R probably benign Het
Mfsd2a A T 4: 122,845,064 (GRCm39) C216S probably damaging Het
Muc16 A T 9: 18,496,126 (GRCm39) Y6688* probably null Het
Or12j5 T C 7: 140,084,192 (GRCm39) Y60C probably damaging Het
Otud6b T C 4: 14,825,614 (GRCm39) D72G probably damaging Het
Pcdhgb6 A G 18: 37,875,924 (GRCm39) I211V probably benign Het
Ryr3 A G 2: 112,498,388 (GRCm39) probably null Het
Sardh T C 2: 27,132,730 (GRCm39) Y166C probably damaging Het
Scn1a T A 2: 66,132,809 (GRCm39) K171N possibly damaging Het
Scyl2 G T 10: 89,476,965 (GRCm39) T720K probably damaging Het
Slc9a8 T A 2: 167,310,891 (GRCm39) V384D probably damaging Het
Slco1a8 T A 6: 141,933,415 (GRCm39) I457F probably benign Het
Smg1 T C 7: 117,772,285 (GRCm39) Y1490C unknown Het
Snx16 A T 3: 10,503,244 (GRCm39) M1K probably null Het
Sqle A G 15: 59,193,276 (GRCm39) S218G probably benign Het
Strip1 A G 3: 107,525,455 (GRCm39) I527T possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tnfsf13 A G 11: 69,575,983 (GRCm39) C35R probably damaging Het
Trf T C 9: 103,087,735 (GRCm39) Y673C probably damaging Het
Ttc39b C T 4: 83,164,557 (GRCm39) A252T probably benign Het
Tubgcp6 A T 15: 89,006,977 (GRCm39) L15H probably benign Het
Uspl1 C T 5: 149,150,992 (GRCm39) Q731* probably null Het
Vmn1r193 T C 13: 22,403,231 (GRCm39) R254G possibly damaging Het
Vrtn C T 12: 84,696,809 (GRCm39) R520C probably damaging Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp644 A C 5: 106,766,280 (GRCm39) V1234G possibly 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
IGL03167:Foxf1 APN 8 121,811,647 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- GCTGAGTTGCCTGCTTACAC -3'
(R):5'- CAAATAATCCGTTAGGGGTGGG -3'

Sequencing Primer
(F):5'- GAGTTGCCTGCTTACACATAAC -3'
(R):5'- CCGTTAGGGGTGGGGCTATC -3'
Posted On 2020-06-30