Incidental Mutation 'IGL02223:Foxe3'
ID 285210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxe3
Ensembl Gene ENSMUSG00000044518
Gene Name forkhead box E3
Synonyms rct, FREAC8
Accession Numbers
Essential gene? Probably essential (E-score: 0.754) question?
Stock # IGL02223
Quality Score
Status
Chromosome 4
Chromosomal Location 114782344-114783210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 114782906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 102 (R102L)
Ref Sequence ENSEMBL: ENSMUSP00000050445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050940]
AlphaFold Q9QY14
Predicted Effect probably damaging
Transcript: ENSMUST00000050940
AA Change: R102L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050445
Gene: ENSMUSG00000044518
AA Change: R102L

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
Coding Region Coverage
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,506,909 (GRCm39) W1148* probably null Het
Adam17 A G 12: 21,411,706 (GRCm39) S62P possibly damaging Het
Akap8 T C 17: 32,535,621 (GRCm39) Y131C probably damaging Het
Ccdc169 A G 3: 55,049,721 (GRCm39) N48S probably benign Het
Ccdc80 A G 16: 44,915,966 (GRCm39) T241A probably damaging Het
Cct7 G T 6: 85,439,023 (GRCm39) M112I probably benign Het
Cftr G A 6: 18,221,481 (GRCm39) A198T probably damaging Het
Crk T C 11: 75,594,205 (GRCm39) V264A probably damaging Het
Dhx34 T C 7: 15,932,584 (GRCm39) T1071A probably benign Het
Dlst A G 12: 85,177,692 (GRCm39) I362V probably benign Het
Fat2 T C 11: 55,163,955 (GRCm39) E3100G probably benign Het
Fbxo11 A G 17: 88,316,714 (GRCm39) V323A probably benign Het
Gale T C 4: 135,693,817 (GRCm39) F162S probably damaging Het
Gipc2 G A 3: 151,833,687 (GRCm39) P198L probably damaging Het
Gm5258 A G 1: 86,251,118 (GRCm39) noncoding transcript Het
Gpatch11 A G 17: 79,152,608 (GRCm39) T259A probably benign Het
H2-M10.3 T C 17: 36,678,972 (GRCm39) N32S possibly damaging Het
Hdlbp T C 1: 93,340,171 (GRCm39) I999V probably damaging Het
Ibtk A G 9: 85,592,419 (GRCm39) probably benign Het
Ift46 A G 9: 44,697,609 (GRCm39) S165G probably damaging Het
Igsf1 A G X: 48,873,897 (GRCm39) S389P probably damaging Het
Lrrd1 A C 5: 3,900,211 (GRCm39) N172T probably benign Het
Mamdc2 G A 19: 23,336,507 (GRCm39) probably benign Het
Matn2 A G 15: 34,423,864 (GRCm39) N574S probably benign Het
Med1 T C 11: 98,048,702 (GRCm39) D683G probably damaging Het
Mon1a A G 9: 107,778,484 (GRCm39) E236G probably damaging Het
Moxd2 T A 6: 40,861,967 (GRCm39) I202F probably damaging Het
Nif3l1 T A 1: 58,487,202 (GRCm39) Y129* probably null Het
Nlrp5 T C 7: 23,129,447 (GRCm39) probably benign Het
Odad3 G A 9: 21,904,908 (GRCm39) R293C probably damaging Het
Or5k14 C T 16: 58,693,057 (GRCm39) G152E probably damaging Het
Pcx T C 19: 4,652,006 (GRCm39) Y84H probably damaging Het
Pom121l2 T C 13: 22,166,265 (GRCm39) S179P probably benign Het
Rexo4 C A 2: 26,845,511 (GRCm39) C369F probably damaging Het
Rigi T C 4: 40,209,993 (GRCm39) N692D possibly damaging Het
Scmh1 C A 4: 120,372,416 (GRCm39) H406Q probably benign Het
Slc12a8 A G 16: 33,445,060 (GRCm39) D372G probably damaging Het
Snip1 T C 4: 124,966,545 (GRCm39) F325S possibly damaging Het
Spr-ps1 C T 6: 85,132,181 (GRCm39) noncoding transcript Het
Stk36 A G 1: 74,662,496 (GRCm39) Y538C possibly damaging Het
Svil A G 18: 5,105,879 (GRCm39) probably benign Het
Syne2 A G 12: 76,155,079 (GRCm39) T6787A probably benign Het
Tbcel T G 9: 42,363,014 (GRCm39) M10L probably benign Het
Tesk2 T A 4: 116,599,022 (GRCm39) Y43* probably null Het
Tjp1 C T 7: 64,972,349 (GRCm39) R605Q probably damaging Het
Tmem65 A G 15: 58,662,000 (GRCm39) probably benign Het
Tnnt2 A G 1: 135,769,753 (GRCm39) probably benign Het
Trmt44 T C 5: 35,731,989 (GRCm39) E134G probably benign Het
Trpv2 T C 11: 62,472,081 (GRCm39) L91P probably benign Het
Ttn G A 2: 76,807,463 (GRCm39) T90I probably damaging Het
Yy1 A G 12: 108,759,466 (GRCm39) E43G unknown Het
Other mutations in Foxe3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4640:Foxe3 UTSW 4 114,782,972 (GRCm39) missense probably damaging 1.00
R7442:Foxe3 UTSW 4 114,782,490 (GRCm39) missense unknown
R8943:Foxe3 UTSW 4 114,782,523 (GRCm39) missense unknown
Posted On 2015-04-16