Incidental Mutation 'R0647:Foxe1'
ID 57247
Institutional Source Beutler Lab
Gene Symbol Foxe1
Ensembl Gene ENSMUSG00000070990
Gene Name forkhead box E1
Synonyms Titf2, thyroid transcription factor 2
MMRRC Submission 038832-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0647 (G1)
Quality Score 193
Status Not validated
Chromosome 4
Chromosomal Location 46343644-46345774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46344477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 95 (N95S)
Ref Sequence ENSEMBL: ENSMUSP00000092715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095097]
AlphaFold Q8R2I0
Predicted Effect possibly damaging
Transcript: ENSMUST00000095097
AA Change: N95S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092715
Gene: ENSMUSG00000070990
AA Change: N95S

DomainStartEndE-ValueType
low complexity region 7 13 N/A INTRINSIC
low complexity region 17 50 N/A INTRINSIC
FH 53 143 2.13e-59 SMART
low complexity region 179 216 N/A INTRINSIC
low complexity region 233 257 N/A INTRINSIC
low complexity region 270 314 N/A INTRINSIC
low complexity region 341 351 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123933
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152069
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a protein that belongs to the forkhead family of transcription factors. Members of this family contain a conserved 100-amino acid DNA-binding 'forkhead' domain. The encoded protein functions as a thyroid transcription factor that plays a role in thyroid morphogenesis. Mutations in this gene are associated with the Bamforth-Lazarus syndrome, and with susceptibility to nonmedullary thyroid cancer-4. [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous null mice die within 48 hours of birth exhibiting cleft palate and a sublingual or absent thyroid gland due to thyroid dysgenesis at the stage of endodermal bud migration. Mutant skin grafts display thin, sparse and kinky pelage hairs due to defects in late hair follicle morphogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 C A 11: 50,494,265 (GRCm39) T113K probably damaging Het
Adgre1 T A 17: 57,718,003 (GRCm39) N338K probably damaging Het
Aggf1 A T 13: 95,508,164 (GRCm39) probably null Het
Apc2 A T 10: 80,140,762 (GRCm39) I206F probably damaging Het
Carmil3 T C 14: 55,739,892 (GRCm39) probably null Het
Ccdc110 A C 8: 46,396,425 (GRCm39) E772A probably damaging Het
Cdh23 A G 10: 60,143,681 (GRCm39) F2977L probably damaging Het
Cdh23 A T 10: 60,159,153 (GRCm39) Y2207* probably null Het
Cfap20dc T A 14: 8,536,655 (GRCm38) D184V possibly damaging Het
Chd4 T A 6: 125,086,086 (GRCm39) N908K probably damaging Het
Chst9 A G 18: 15,585,726 (GRCm39) I279T probably damaging Het
Ctnna3 A T 10: 63,656,203 (GRCm39) N261I probably benign Het
Dlgap2 A T 8: 14,777,591 (GRCm39) S279C possibly damaging Het
Dock4 G A 12: 40,760,883 (GRCm39) E524K probably damaging Het
Fabp12 T A 3: 10,311,096 (GRCm39) N122I possibly damaging Het
Fam184b T C 5: 45,741,932 (GRCm39) T100A probably benign Het
Fbxl5 T C 5: 43,925,411 (GRCm39) D176G probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Frem3 A G 8: 81,341,814 (GRCm39) E1369G probably damaging Het
Frmpd4 C T X: 166,272,006 (GRCm39) E483K probably damaging Het
Gbp11 T C 5: 105,478,830 (GRCm39) K203E possibly damaging Het
Hs3st6 C T 17: 24,977,134 (GRCm39) R205C probably damaging Het
Ifitm10 C T 7: 141,909,772 (GRCm39) S179N probably damaging Het
Irx2 A C 13: 72,778,799 (GRCm39) N121T probably damaging Het
Itih1 A T 14: 30,657,820 (GRCm39) V417E probably damaging Het
Itpr1 A C 6: 108,360,659 (GRCm39) E695A probably damaging Het
Kif1c T A 11: 70,616,967 (GRCm39) I755K probably damaging Het
Lamb3 A G 1: 193,013,104 (GRCm39) E443G probably damaging Het
Lrp1 G C 10: 127,407,346 (GRCm39) T1865R probably damaging Het
Lrrc8b T A 5: 105,628,473 (GRCm39) I273K possibly damaging Het
Ly9 T C 1: 171,427,376 (GRCm39) Y393C probably damaging Het
Mphosph8 T C 14: 56,911,862 (GRCm39) V295A probably benign Het
Nlrp5 T A 7: 23,117,132 (GRCm39) D269E probably damaging Het
Or1r1 G A 11: 73,874,597 (GRCm39) A279V probably damaging Het
Or2t6 T G 14: 14,175,858 (GRCm38) T75P probably benign Het
Or4k44 A G 2: 111,367,704 (GRCm39) V310A probably benign Het
Or52u1 T G 7: 104,237,322 (GRCm39) F104V probably damaging Het
Or5p50 T A 7: 107,422,218 (GRCm39) I153F probably benign Het
Otud3 A G 4: 138,640,948 (GRCm39) L64P probably damaging Het
Pcdh17 A T 14: 84,685,213 (GRCm39) H560L possibly damaging Het
Pcdhb21 T C 18: 37,646,913 (GRCm39) V14A probably damaging Het
Prss3l A T 6: 41,420,275 (GRCm39) F150L probably benign Het
Rbfox1 A T 16: 7,042,248 (GRCm39) Q14L probably damaging Het
Rbm44 A G 1: 91,084,650 (GRCm39) D665G probably benign Het
Rc3h2 C T 2: 37,299,542 (GRCm39) V163M probably damaging Het
Sash1 T A 10: 8,605,316 (GRCm39) R1025W probably damaging Het
Sgpl1 A G 10: 60,949,267 (GRCm39) S146P probably damaging Het
Slc27a2 G A 2: 126,429,836 (GRCm39) D615N probably benign Het
Smap1 A G 1: 23,892,559 (GRCm39) I135T probably damaging Het
Snapc3 A G 4: 83,368,466 (GRCm39) D321G probably damaging Het
St6galnac4 C T 2: 32,479,460 (GRCm39) R6C probably damaging Het
Syne2 C T 12: 75,934,977 (GRCm39) P153L probably benign Het
Tiprl A G 1: 165,050,092 (GRCm39) probably null Het
Tmem94 A G 11: 115,687,621 (GRCm39) N1160S probably damaging Het
Trim65 G A 11: 116,019,036 (GRCm39) R168C possibly damaging Het
Txndc16 A T 14: 45,406,732 (GRCm39) I241N probably damaging Het
Txndc16 T A 14: 45,402,818 (GRCm39) R101* probably null Het
Ugt2b38 A G 5: 87,571,328 (GRCm39) S235P probably benign Het
Ugt3a1 A T 15: 9,310,635 (GRCm39) M306L probably benign Het
Vmn1r23 T A 6: 57,903,169 (GRCm39) Y203F probably benign Het
Vmn2r3 T A 3: 64,183,046 (GRCm39) I218F probably damaging Het
Wdfy4 A G 14: 32,831,656 (GRCm39) C857R possibly damaging Het
Zfp493 A C 13: 67,931,994 (GRCm39) K31T possibly damaging Het
Other mutations in Foxe1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7669:Foxe1 UTSW 4 46,344,545 (GRCm39) missense possibly damaging 0.71
R7732:Foxe1 UTSW 4 46,345,287 (GRCm39) missense unknown
R7821:Foxe1 UTSW 4 46,344,578 (GRCm39) missense probably damaging 0.98
R7891:Foxe1 UTSW 4 46,344,599 (GRCm39) missense possibly damaging 0.71
R8340:Foxe1 UTSW 4 46,344,437 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TCCAGACCCCGAAGTTCCCTGC -3'
(R):5'- AGCTGCCGCTTTCGAACATGTCC -3'

Sequencing Primer
(F):5'- GAAGTTCCCTGCCCTCAG -3'
(R):5'- TTCGAACATGTCCTCGGCG -3'
Posted On 2013-07-11