Incidental Mutation 'IGL03038:Foxl1'
ID408789
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxl1
Ensembl Gene ENSMUSG00000097084
Gene Nameforkhead box L1
SynonymsFkh6, fkh6, fkh-6, FREAC7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #IGL03038
Quality Score
Status
Chromosome8
Chromosomal Location121127940-121130644 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 121128419 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 153 (E153A)
Ref Sequence ENSEMBL: ENSMUSP00000137732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127664] [ENSMUST00000181609]
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 damaging
Transcript: ENSMUST00000181609
AA Change: E153A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137732
Gene: ENSMUSG00000097084
AA Change: E153A

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
low complexity region 26 42 N/A INTRINSIC
FH 47 137 1.13e-63 SMART
low complexity region 139 147 N/A INTRINSIC
low complexity region 242 253 N/A INTRINSIC
low complexity region 280 297 N/A INTRINSIC
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 encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit impaired stomach and intestine development, including impaired parietal cell differentiation, abnormal intestinal epithelium and crypt structure, gastric mucosal hyperplasia, growth retardation, and sometimes postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,428,456 Y111H probably damaging Het
Arhgef6 C T X: 57,245,606 V262I probably benign Het
Arsk C A 13: 76,065,513 probably benign Het
Ces1b T C 8: 93,067,052 E303G probably benign Het
Chst9 T C 18: 15,495,303 Q55R probably benign Het
Cntnap3 A T 13: 64,741,025 D1153E possibly damaging Het
D130043K22Rik A G 13: 24,879,619 E681G probably damaging Het
Fhad1 T C 4: 142,002,494 E66G probably benign Het
Flii T C 11: 60,724,832 T69A probably benign Het
Gstm3 T C 3: 107,966,169 D162G possibly damaging Het
Gtpbp3 G A 8: 71,489,303 V96I possibly damaging Het
Insig2 G A 1: 121,319,674 T56I probably damaging Het
Kif13a A G 13: 46,772,838 L264P probably damaging Het
Lama3 T G 18: 12,419,250 C420G probably damaging Het
Lrp2 C T 2: 69,475,464 G2918S probably damaging Het
Lrrc8b T C 5: 105,481,492 L568P probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Malrd1 G A 2: 16,127,967 D1900N unknown Het
Mastl C A 2: 23,140,615 probably benign Het
Med24 T G 11: 98,716,184 T276P possibly damaging Het
Naip1 A C 13: 100,437,333 Y239* probably null Het
Nhsl2 A G X: 102,078,885 K765E probably damaging Het
Npy A G 6: 49,823,608 N4S probably benign Het
Nsun2 A G 13: 69,619,584 D188G probably damaging Het
Olfr794 A G 10: 129,570,921 T89A probably benign Het
Pde1a C A 2: 79,887,946 probably benign Het
Pik3cb G A 9: 99,065,597 A509V probably damaging Het
Pou2f2 C T 7: 25,097,152 S315N probably damaging Het
Prdm2 A C 4: 143,134,001 S906R probably damaging Het
Prkaca C A 8: 83,994,951 Q300K probably benign Het
Prox2 T C 12: 85,095,264 D55G possibly damaging Het
Ryr3 T A 2: 112,668,120 T3612S possibly damaging Het
S1pr1 T A 3: 115,712,694 I84L possibly damaging Het
Slc47a1 C T 11: 61,353,092 V384M probably benign Het
Slc6a20b T C 9: 123,597,329 N497S possibly damaging Het
Spen C A 4: 141,538,239 R3L unknown Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Ttll6 T C 11: 96,151,960 F444S probably damaging Het
Vwce T A 19: 10,646,671 Y309N possibly damaging Het
Vwf T C 6: 125,604,157 L586P possibly damaging Het
Wdr35 T C 12: 8,974,185 probably benign Het
Other mutations in Foxl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5990:Foxl1 UTSW 8 121128421 missense probably damaging 1.00
Z1088:Foxl1 UTSW 8 121128772 missense possibly damaging 0.79
Posted On2016-08-02