Incidental Mutation 'R4640:Foxe3'
ID 351600
Institutional Source Beutler Lab
Gene Symbol Foxe3
Ensembl Gene ENSMUSG00000044518
Gene Name forkhead box E3
Synonyms rct, FREAC8
MMRRC Submission 041902-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.754) question?
Stock # R4640 (G1)
Quality Score 190
Status Validated
Chromosome 4
Chromosomal Location 114782344-114783210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 114782972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 80 (A80V)
Ref Sequence ENSEMBL: ENSMUSP00000050445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050940]
AlphaFold Q9QY14
Predicted Effect probably damaging
Transcript: ENSMUST00000050940
AA Change: A80V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050445
Gene: ENSMUSG00000044518
AA Change: A80V

DomainStartEndE-ValueType
low complexity region 27 42 N/A INTRINSIC
FH 62 152 1.48e-58 SMART
low complexity region 166 192 N/A INTRINSIC
low complexity region 205 242 N/A INTRINSIC
low complexity region 244 273 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144002
Meta Mutation Damage Score 0.2974 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 93% (39/42)
MGI Phenotype PHENOTYPE: Homozygotes for a spontaneous or null mutation display microphthalmia, fusion of the lens and cornea, and other corneal and lens abnormalities. Null mice have reduced smooth muscle cell density in the ascending aorta and show aortic remodeling and rupture of the aorta after TAC. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adgrl4 T C 3: 151,205,947 (GRCm39) probably benign Het
Ano4 C T 10: 88,790,559 (GRCm39) A847T probably damaging Het
Atp11a A G 8: 12,878,434 (GRCm39) probably benign Het
Cct4 T A 11: 22,952,297 (GRCm39) S463T probably benign Het
Cfap251 G T 5: 123,440,495 (GRCm39) V1094L probably benign Het
Cnmd T C 14: 79,894,093 (GRCm39) N98S probably damaging Het
Copz2 A T 11: 96,747,533 (GRCm39) Q172L possibly damaging Het
Ctdp1 C A 18: 80,494,369 (GRCm39) probably null Het
Cyfip1 C T 7: 55,563,199 (GRCm39) T865I possibly damaging Het
Cyp2c37 A T 19: 40,000,276 (GRCm39) D466V possibly damaging Het
Dytn A G 1: 63,682,507 (GRCm39) L380P possibly damaging Het
Fam124b G A 1: 80,191,243 (GRCm39) R47C probably damaging Het
Gm5884 A G 6: 128,622,734 (GRCm39) noncoding transcript Het
Kera A T 10: 97,448,749 (GRCm39) Y323F probably damaging Het
Lipf A T 19: 33,946,197 (GRCm39) Y205F probably damaging Het
Lipo2 T C 19: 33,698,237 (GRCm39) E380G probably benign Het
Mcm2 A T 6: 88,864,786 (GRCm39) H563Q possibly damaging Het
Mindy3 T C 2: 12,352,974 (GRCm39) E409G probably benign Het
Mns1 A G 9: 72,346,564 (GRCm39) K16E probably benign Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nlrp4g T C 9: 124,349,153 (GRCm38) noncoding transcript Het
Nrxn1 A G 17: 90,868,196 (GRCm39) S1105P probably damaging Het
Odf2l G A 3: 144,834,706 (GRCm39) R186H probably damaging Het
Or13g1 T A 7: 85,956,274 (GRCm39) T16S probably benign Het
Or2d3c T C 7: 106,525,800 (GRCm39) I289V possibly damaging Het
Phxr2 T C 10: 98,961,931 (GRCm39) probably benign Het
Plcxd3 T C 15: 4,546,725 (GRCm39) F243S probably damaging Het
Ppp1r27 T C 11: 120,441,553 (GRCm39) N76D possibly damaging Het
Ptprz1 A G 6: 22,972,797 (GRCm39) T236A probably damaging Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
R3hdm1 T C 1: 128,102,975 (GRCm39) probably benign Het
Sall2 T A 14: 52,552,616 (GRCm39) Q193L probably damaging Het
Srpk1 T C 17: 28,827,698 (GRCm39) S39G probably benign Het
Tcaf3 A G 6: 42,564,513 (GRCm39) V883A probably damaging Het
Tmem104 T A 11: 115,134,550 (GRCm39) V362E probably damaging Het
Other mutations in Foxe3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02223:Foxe3 APN 4 114,782,906 (GRCm39) missense probably damaging 1.00
R0277:Foxe3 UTSW 4 114,782,805 (GRCm39) missense probably damaging 1.00
R0279:Foxe3 UTSW 4 114,782,765 (GRCm39) missense probably damaging 1.00
R0323:Foxe3 UTSW 4 114,782,805 (GRCm39) missense probably damaging 1.00
R0726:Foxe3 UTSW 4 114,782,447 (GRCm39) missense unknown
R7442:Foxe3 UTSW 4 114,782,490 (GRCm39) missense unknown
R8943:Foxe3 UTSW 4 114,782,523 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTGTCGAACATGTCAGCGGC -3'
(R):5'- AAGTCGCTTTCTCGGGCTTC -3'

Sequencing Primer
(F):5'- ATCGAGCGTCCAGTAGTTGC -3'
(R):5'- CCTTGCCCTCGCTCACG -3'
Posted On 2015-10-08