Incidental Mutation 'IGL02470:Elf3'
ID 294698
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elf3
Ensembl Gene ENSMUSG00000003051
Gene Name E74-like factor 3
Synonyms ESE-1, jen, ESX
Accession Numbers
Essential gene? Probably essential (E-score: 0.900) question?
Stock # IGL02470
Quality Score
Status
Chromosome 1
Chromosomal Location 135181312-135186210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135182750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 325 (F325Y)
Ref Sequence ENSEMBL: ENSMUSP00000003135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003135] [ENSMUST00000185752]
AlphaFold Q3UPW2
PDB Structure Crystal structure of mouse Elf3 C-terminal DNA-binding domain in complex with type II TGF-beta receptor promoter DNA [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000003135
AA Change: F325Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003135
Gene: ENSMUSG00000003051
AA Change: F325Y

DomainStartEndE-ValueType
SAM_PNT 67 151 6.32e-30 SMART
low complexity region 230 241 N/A INTRINSIC
AT_hook 264 276 1.29e0 SMART
ETS 292 379 6.11e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180981
Predicted Effect probably damaging
Transcript: ENSMUST00000185752
AA Change: F305Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139769
Gene: ENSMUSG00000003051
AA Change: F305Y

DomainStartEndE-ValueType
SAM_PNT 47 131 1.36e-29 SMART
low complexity region 210 221 N/A INTRINSIC
AT_hook 244 256 1.29e0 SMART
ETS 272 359 6.11e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188895
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: About one third of mice homozygous for a reporter allele die at E11.5; over half of those born develop a wasted phenotype, lethargy and watery diarrhea and die during the first few weeks of life exhibiting dysmorphogenesis and altered differentiation of small intestinal epithelium. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A G 1: 165,395,295 (GRCm39) Y1422C probably damaging Het
Adnp T A 2: 168,025,114 (GRCm39) K727I probably damaging Het
Akr1c21 A T 13: 4,627,406 (GRCm39) N167Y probably damaging Het
Arl4a T C 12: 40,086,747 (GRCm39) probably benign Het
BB014433 A T 8: 15,092,803 (GRCm39) F17I unknown Het
Best1 T C 19: 9,970,340 (GRCm39) S91G probably benign Het
Ccdc148 A T 2: 58,891,911 (GRCm39) S235T probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dcc A T 18: 72,088,153 (GRCm39) probably benign Het
Dnajc13 G A 9: 104,052,946 (GRCm39) T1672I probably benign Het
Enpp2 A G 15: 54,702,856 (GRCm39) L880P probably damaging Het
Fndc3b A G 3: 27,515,869 (GRCm39) Y646H probably damaging Het
Fzd6 A T 15: 38,899,952 (GRCm39) probably benign Het
Gnb1 T A 4: 155,611,970 (GRCm39) probably benign Het
Mast1 C A 8: 85,647,841 (GRCm39) G511V probably damaging Het
Mcmbp T C 7: 128,306,345 (GRCm39) I424M possibly damaging Het
Mobp A G 9: 119,997,072 (GRCm39) T68A probably benign Het
Myh11 T C 16: 14,035,910 (GRCm39) E1006G probably damaging Het
Ncstn A G 1: 171,910,166 (GRCm39) probably null Het
Or1j12 A G 2: 36,342,609 (GRCm39) D4G probably benign Het
Or8k39 A T 2: 86,563,929 (GRCm39) V9E probably damaging Het
Phip A T 9: 82,772,507 (GRCm39) V1075D possibly damaging Het
Sanbr A T 11: 23,565,222 (GRCm39) M255K probably damaging Het
Serpinb1a C T 13: 33,034,376 (GRCm39) S5N probably damaging Het
Slc15a3 A G 19: 10,830,534 (GRCm39) N295S probably benign Het
Trmt13 A C 3: 116,383,877 (GRCm39) probably null Het
Trp63 A C 16: 25,639,134 (GRCm39) probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Elf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02141:Elf3 APN 1 135,185,445 (GRCm39) missense possibly damaging 0.94
IGL03018:Elf3 APN 1 135,183,803 (GRCm39) missense possibly damaging 0.62
IGL03252:Elf3 APN 1 135,182,691 (GRCm39) missense probably damaging 1.00
P0026:Elf3 UTSW 1 135,183,711 (GRCm39) critical splice donor site probably null
R0087:Elf3 UTSW 1 135,184,875 (GRCm39) missense probably damaging 1.00
R1842:Elf3 UTSW 1 135,184,531 (GRCm39) missense possibly damaging 0.65
R1897:Elf3 UTSW 1 135,184,875 (GRCm39) missense probably damaging 1.00
R2081:Elf3 UTSW 1 135,184,814 (GRCm39) missense probably benign 0.12
R4049:Elf3 UTSW 1 135,182,015 (GRCm39) missense probably benign 0.21
R4467:Elf3 UTSW 1 135,184,582 (GRCm39) missense probably damaging 1.00
R4630:Elf3 UTSW 1 135,184,478 (GRCm39) intron probably benign
R4715:Elf3 UTSW 1 135,185,490 (GRCm39) missense probably damaging 1.00
R4923:Elf3 UTSW 1 135,184,473 (GRCm39) intron probably benign
R5226:Elf3 UTSW 1 135,184,977 (GRCm39) missense probably benign 0.07
R5422:Elf3 UTSW 1 135,182,778 (GRCm39) missense probably damaging 0.98
R5706:Elf3 UTSW 1 135,184,220 (GRCm39) missense probably benign 0.01
R7115:Elf3 UTSW 1 135,184,856 (GRCm39) missense probably damaging 1.00
R7644:Elf3 UTSW 1 135,184,244 (GRCm39) missense possibly damaging 0.89
R7855:Elf3 UTSW 1 135,182,090 (GRCm39) missense probably damaging 1.00
R7940:Elf3 UTSW 1 135,184,866 (GRCm39) missense probably damaging 1.00
R8315:Elf3 UTSW 1 135,184,314 (GRCm39) missense probably benign 0.00
R8723:Elf3 UTSW 1 135,185,385 (GRCm39) missense possibly damaging 0.95
R8724:Elf3 UTSW 1 135,182,098 (GRCm39) missense probably damaging 1.00
R8906:Elf3 UTSW 1 135,182,678 (GRCm39) missense probably damaging 1.00
R8960:Elf3 UTSW 1 135,182,813 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16