Incidental Mutation 'R8442:Foxl1'
ID 654249
Institutional Source Beutler Lab
Gene Symbol Foxl1
Ensembl Gene ENSMUSG00000097084
Gene Name forkhead box L1
Synonyms fkh-6, FREAC7, Fkh6, fkh6
MMRRC Submission 067779-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R8442 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 121854679-121857383 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121855224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 175 (L175Q)
Ref Sequence ENSEMBL: ENSMUSP00000137732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127664] [ENSMUST00000181609]
AlphaFold Q64731
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 possibly damaging
Transcript: ENSMUST00000181609
AA Change: L175Q

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137732
Gene: ENSMUSG00000097084
AA Change: L175Q

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apof T C 10: 128,104,891 (GRCm39) L15P probably damaging Het
BC048671 T C 6: 90,282,095 (GRCm39) F84S probably benign Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
C2cd4a C T 9: 67,739,039 (GRCm39) M1I probably null Het
Cd72 T A 4: 43,450,109 (GRCm39) K266N possibly damaging Het
Col12a1 A G 9: 79,542,781 (GRCm39) F2328S probably damaging Het
Cubn T C 2: 13,318,855 (GRCm39) Y2948C probably damaging Het
Dagla A G 19: 10,240,456 (GRCm39) probably null Het
Dagla A G 19: 10,248,883 (GRCm39) F24L probably damaging Het
Dnah14 A G 1: 181,568,849 (GRCm39) T2860A probably damaging Het
Efcab2 A T 1: 178,265,001 (GRCm39) K22N probably benign Het
Flt1 C T 5: 147,512,983 (GRCm39) R1118Q probably damaging Het
Gm572 G T 4: 148,743,450 (GRCm39) R140L possibly damaging Het
Gucy2g T C 19: 55,205,833 (GRCm39) R676G probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hspb8 T C 5: 116,560,504 (GRCm39) Y12C probably damaging Het
Igf2bp2 A C 16: 21,883,841 (GRCm39) probably null Het
Igkv9-129 T A 6: 67,816,784 (GRCm39) M3K probably damaging Het
Il5 C T 11: 53,612,651 (GRCm39) P54S probably damaging Het
Kif18a T C 2: 109,125,318 (GRCm39) I245T possibly damaging Het
Kif2b T A 11: 91,467,140 (GRCm39) N381I possibly damaging Het
Lrrc49 A G 9: 60,500,908 (GRCm39) F679S probably benign Het
Med24 A G 11: 98,598,383 (GRCm39) F742L probably benign Het
Msh3 T C 13: 92,349,020 (GRCm39) T1071A probably benign Het
Neb T C 2: 52,177,220 (GRCm39) T1374A probably damaging Het
Or4d6 A T 19: 12,086,091 (GRCm39) I47N probably damaging Het
Or5p75-ps1 A C 7: 108,107,851 (GRCm39) Q196P unknown Het
P3h2 A G 16: 25,805,955 (GRCm39) I296T probably benign Het
Pcdhb21 A T 18: 37,646,841 (GRCm39) probably benign Het
Prkab2 G T 3: 97,566,002 (GRCm39) G25C probably damaging Het
Ptprm C A 17: 67,251,312 (GRCm39) A522S possibly damaging Het
Scarf2 A G 16: 17,624,231 (GRCm39) D512G probably benign Het
Sema3d A G 5: 12,592,608 (GRCm39) T346A probably damaging Het
Septin7 T C 9: 25,163,938 (GRCm39) S2P unknown Het
Sfrp5 A G 19: 42,187,236 (GRCm39) V278A probably benign Het
Taar1 T A 10: 23,796,522 (GRCm39) C73* probably null Het
Tek T A 4: 94,715,922 (GRCm39) L448Q probably benign Het
Tmem132a A C 19: 10,835,833 (GRCm39) L899R probably damaging Het
Txndc5 T C 13: 38,711,845 (GRCm39) probably benign Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Uggt1 A G 1: 36,212,568 (GRCm39) S925P probably damaging Het
Unc13d A T 11: 115,958,657 (GRCm39) D786E probably damaging Het
Vmn1r26 T C 6: 57,985,728 (GRCm39) T154A possibly damaging Het
Other mutations in Foxl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03038:Foxl1 APN 8 121,855,158 (GRCm39) missense probably damaging 1.00
R5990:Foxl1 UTSW 8 121,855,160 (GRCm39) missense probably damaging 1.00
R9448:Foxl1 UTSW 8 121,855,608 (GRCm39) missense probably benign 0.17
R9708:Foxl1 UTSW 8 121,855,077 (GRCm39) missense possibly damaging 0.93
Z1088:Foxl1 UTSW 8 121,855,511 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- AGTTCATCATGGATCGCTTCCC -3'
(R):5'- TTGGAACCTTTTGGGGAGCC -3'

Sequencing Primer
(F):5'- TGCTTCGTGAAGGTGCCAC -3'
(R):5'- GACCCCAGGTGGTGTGC -3'
Posted On 2020-10-20