Incidental Mutation 'IGL03018:Elf3'
ID 407953
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: 0.925) question?
Stock # IGL03018
Quality Score
Status
Chromosome 1
Chromosomal Location 135181312-135186210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 135183803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 239 (E239K)
Ref Sequence ENSEMBL: ENSMUSP00000139769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003135] [ENSMUST00000185752]
AlphaFold Q3UPW2
Predicted Effect probably benign
Transcript: ENSMUST00000003135
AA Change: E259K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000003135
Gene: ENSMUSG00000003051
AA Change: E259K

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 possibly damaging
Transcript: ENSMUST00000185752
AA Change: E239K

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139769
Gene: ENSMUSG00000003051
AA Change: E239K

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,752,451 (GRCm39) V474E probably damaging Het
Cpsf6 A T 10: 117,203,861 (GRCm39) D30E probably benign Het
Dnai7 A G 6: 145,129,031 (GRCm39) F394S probably damaging Het
Edem1 T C 6: 108,806,103 (GRCm39) F135L probably damaging Het
Farp1 C T 14: 121,339,581 (GRCm39) A53V probably benign Het
Gli3 T A 13: 15,834,717 (GRCm39) L400Q probably damaging Het
Gtf2i T A 5: 134,318,189 (GRCm39) I109F possibly damaging Het
Lat2 A T 5: 134,631,445 (GRCm39) I191N probably damaging Het
Mtf1 G A 4: 124,732,456 (GRCm39) A505T probably benign Het
Naa30 G T 14: 49,410,697 (GRCm39) E208D probably benign Het
Nlrp5 T C 7: 23,117,172 (GRCm39) Y299H probably benign Het
Npc1 T A 18: 12,347,436 (GRCm39) N195Y probably damaging Het
Or2f1 A G 6: 42,721,748 (GRCm39) Y259C probably damaging Het
Or4p21 T C 2: 88,277,163 (GRCm39) N40D probably damaging Het
Or5t16 T G 2: 86,819,349 (GRCm39) Y57S probably damaging Het
Or7g18 T C 9: 18,787,523 (GRCm39) M300T probably benign Het
Or7g19 A T 9: 18,856,177 (GRCm39) I78F probably damaging Het
Pate12 A G 9: 36,344,723 (GRCm39) T84A possibly damaging Het
Pcdh9 G A 14: 93,253,012 (GRCm39) A1217V probably null Het
Pdhb C T 14: 8,171,537 (GRCm38) probably benign Het
Pknox2 A G 9: 36,865,993 (GRCm39) Y75H probably damaging Het
Ptprn2 T C 12: 117,175,563 (GRCm39) S748P probably damaging Het
Ranbp6 A G 19: 29,788,789 (GRCm39) V521A probably damaging Het
Samd7 A G 3: 30,816,294 (GRCm39) K347E probably damaging Het
Selenom A G 11: 3,466,508 (GRCm39) D63G probably damaging Het
Sema6d T C 2: 124,501,520 (GRCm39) V487A possibly damaging Het
Tapt1 A T 5: 44,361,666 (GRCm39) M109K probably damaging Het
Trib1 T C 15: 59,526,333 (GRCm39) F301S probably damaging Het
Tspyl1 T C 10: 34,159,112 (GRCm39) V279A probably damaging Het
Ubr2 C T 17: 47,264,972 (GRCm39) V1184I possibly damaging Het
Urb1 T C 16: 90,585,044 (GRCm39) I526V probably benign Het
Vtcn1 A G 3: 100,791,226 (GRCm39) D88G probably damaging Het
Yod1 T G 1: 130,646,695 (GRCm39) L191V probably benign Het
Other mutations in Elf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02141:Elf3 APN 1 135,185,445 (GRCm39) missense possibly damaging 0.94
IGL02470:Elf3 APN 1 135,182,750 (GRCm39) missense probably damaging 1.00
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 2016-08-02