Incidental Mutation 'R7891:Foxe1'
ID 609320
Institutional Source Beutler Lab
Gene Symbol Foxe1
Ensembl Gene ENSMUSG00000070990
Gene Name forkhead box E1
Synonyms Titf2, thyroid transcription factor 2
MMRRC Submission 045943-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7891 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 46343644-46345774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 46344599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 136 (E136K)
Ref Sequence ENSEMBL: ENSMUSP00000092715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095097]
AlphaFold Q8R2I0
Predicted Effect possibly damaging
Transcript: ENSMUST00000095097
AA Change: E136K

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092715
Gene: ENSMUSG00000070990
AA Change: E136K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025C18Rik T G 2: 164,920,864 (GRCm39) E56D unknown Het
9930111J21Rik2 T C 11: 48,910,543 (GRCm39) Q630R probably benign Het
Abca9 A G 11: 110,054,098 (GRCm39) V68A probably benign Het
Acnat1 G A 4: 49,449,181 (GRCm39) A195V possibly damaging Het
Acsl3 C T 1: 78,681,305 (GRCm39) A612V probably benign Het
Adam12 A T 7: 133,599,961 (GRCm39) D115E probably benign Het
Adam3 T A 8: 25,197,513 (GRCm39) probably null Het
Aif1 G A 17: 35,391,600 (GRCm39) probably benign Het
Ank3 A G 10: 69,824,139 (GRCm39) D154G probably damaging Het
Arid3b A G 9: 57,717,442 (GRCm39) C233R probably benign Het
Ccdc7b T A 8: 129,799,146 (GRCm39) D74E unknown Het
Cckbr T A 7: 105,084,557 (GRCm39) D430E probably benign Het
Chpf T C 1: 75,451,939 (GRCm39) H667R probably benign Het
Dnah8 A G 17: 30,931,263 (GRCm39) E1426G probably benign Het
Dync1h1 A G 12: 110,609,590 (GRCm39) I2791V probably benign Het
Ehd3 A G 17: 74,123,387 (GRCm39) N130S probably benign Het
Fgfr4 A G 13: 55,306,964 (GRCm39) T218A probably benign Het
Frmpd1 A G 4: 45,284,478 (GRCm39) S1100G probably benign Het
Gask1b G A 3: 79,793,591 (GRCm39) A20T probably benign Het
Gm21886 T G 18: 80,132,972 (GRCm39) Q62P probably null Het
Golga4 A G 9: 118,385,434 (GRCm39) E852G probably damaging Het
Gprin3 T C 6: 59,330,696 (GRCm39) D537G probably benign Het
Gpx5 C A 13: 21,472,918 (GRCm39) D139Y probably damaging Het
Hmcn1 T C 1: 150,468,940 (GRCm39) Y5007C probably damaging Het
Igsf10 G A 3: 59,235,832 (GRCm39) R1450* probably null Het
Kif21a G A 15: 90,840,517 (GRCm39) P1200S probably damaging Het
Kmt2c G A 5: 25,505,109 (GRCm39) R3400C probably damaging Het
Miox A C 15: 89,220,742 (GRCm39) M216L probably benign Het
Mphosph9 T C 5: 124,428,967 (GRCm39) Y687C probably damaging Het
Mxi1 T A 19: 53,299,192 (GRCm39) V21D probably benign Het
Nbeal1 T C 1: 60,299,591 (GRCm39) L1309P probably benign Het
Onecut2 T A 18: 64,474,046 (GRCm39) M180K possibly damaging Het
Or10ag54 A T 2: 87,099,421 (GRCm39) T99S possibly damaging Het
Or13c25 C T 4: 52,911,663 (GRCm39) V44I probably benign Het
Or4c100 G A 2: 88,356,289 (GRCm39) V121I probably benign Het
Or7g22 T C 9: 19,049,141 (GRCm39) M284T possibly damaging Het
Polq A G 16: 36,848,244 (GRCm39) T284A probably damaging Het
Polrmt A T 10: 79,577,714 (GRCm39) M295K probably damaging Het
Pou2af1 G T 9: 51,144,297 (GRCm39) M70I probably damaging Het
Pou3f1 G A 4: 124,552,232 (GRCm39) E245K probably damaging Het
Psmb1 C T 17: 15,714,748 (GRCm39) V50I probably benign Het
Ptgis T C 2: 167,069,434 (GRCm39) D50G probably damaging Het
R3hdm2 A G 10: 127,334,443 (GRCm39) I955M probably benign Het
Rasef G A 4: 73,677,935 (GRCm39) T97I probably benign Het
Rasef T C 4: 73,709,201 (GRCm39) T11A probably benign Het
Sema4c C A 1: 36,588,995 (GRCm39) L710F probably damaging Het
Slc39a10 C T 1: 46,851,328 (GRCm39) A721T probably damaging Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Spata31d1a A G 13: 59,848,139 (GRCm39) C1330R possibly damaging Het
Susd1 T C 4: 59,349,915 (GRCm39) D560G possibly damaging Het
Tnfrsf1b T C 4: 144,955,660 (GRCm39) Y32C probably damaging Het
Trhr2 C A 8: 123,084,083 (GRCm39) V306F probably damaging Het
Trpm6 A T 19: 18,754,074 (GRCm39) Q35L probably benign Het
Ttbk2 A G 2: 120,616,510 (GRCm39) S197P probably damaging Het
Uggt2 T A 14: 119,280,059 (GRCm39) E806D probably benign Het
Ushbp1 T G 8: 71,841,422 (GRCm39) Q469P possibly damaging Het
Vmn1r73 G A 7: 11,491,036 (GRCm39) V285I possibly damaging Het
Zfp934 A C 13: 62,668,003 (GRCm39) S63R probably benign Het
Other mutations in Foxe1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0647:Foxe1 UTSW 4 46,344,477 (GRCm39) missense possibly damaging 0.71
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
R8340:Foxe1 UTSW 4 46,344,437 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GGCATCTACAAGTTCATCACCG -3'
(R):5'- TAGAAGTCCACCGTGGCCTC -3'

Sequencing Primer
(F):5'- AAGTTCATCACCGAGCGCTTC -3'
(R):5'- TAGCCCGCATAGACGGC -3'
Posted On 2019-12-20