Incidental Mutation 'IGL02141:Elf3'
ID 281564
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 # IGL02141
Quality Score
Status
Chromosome 1
Chromosomal Location 135181312-135186210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135185445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 23 (D23G)
Ref Sequence ENSEMBL: ENSMUSP00000139769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003135] [ENSMUST00000185752]
AlphaFold Q3UPW2
Predicted Effect possibly damaging
Transcript: ENSMUST00000003135
AA Change: D23G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003135
Gene: ENSMUSG00000003051
AA Change: D23G

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: D23G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139769
Gene: ENSMUSG00000003051
AA Change: D23G

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,120,275 (GRCm39) A188T probably benign Het
2310022B05Rik A T 8: 125,364,645 (GRCm39) probably benign Het
Atf6b C A 17: 34,872,251 (GRCm39) H539Q probably benign Het
Bmal2 T A 6: 146,729,593 (GRCm39) probably benign Het
Bpifb5 G T 2: 154,071,477 (GRCm39) probably null Het
Cep89 T A 7: 35,120,349 (GRCm39) M377K probably damaging Het
Clpx G T 9: 65,219,400 (GRCm39) probably null Het
Cops5 T C 1: 10,105,342 (GRCm39) K47E probably damaging Het
Cryba2 T C 1: 74,931,943 (GRCm39) N35S probably benign Het
Ddx27 A G 2: 166,862,443 (GRCm39) K162E possibly damaging Het
Dhx36 A G 3: 62,401,310 (GRCm39) S319P probably benign Het
Dram2 A G 3: 106,479,012 (GRCm39) probably benign Het
Eci2 T A 13: 35,162,656 (GRCm39) T300S probably benign Het
Egf C A 3: 129,533,631 (GRCm39) G70* probably null Het
Eif5b T C 1: 38,071,403 (GRCm39) V444A probably benign Het
Epb41l4b A T 4: 57,103,422 (GRCm39) probably null Het
Fam167a T A 14: 63,689,708 (GRCm39) S2T probably benign Het
Flrt3 A G 2: 140,502,608 (GRCm39) V340A probably damaging Het
Gimap3 T C 6: 48,742,312 (GRCm39) E206G probably benign Het
Gp6 T C 7: 4,397,103 (GRCm39) probably benign Het
Gpr158 A T 2: 21,788,101 (GRCm39) M581L probably damaging Het
Hapln3 A G 7: 78,767,893 (GRCm39) V167A probably damaging Het
Hnrnpll G A 17: 80,358,142 (GRCm39) T203I probably benign Het
Ighv3-6 A G 12: 114,251,982 (GRCm39) I47T probably damaging Het
Iqgap1 G A 7: 80,387,869 (GRCm39) T926M probably damaging Het
Lonp1 A T 17: 56,922,086 (GRCm39) S765T probably benign Het
Lpp C T 16: 24,580,365 (GRCm39) S27F probably damaging Het
Lrit2 T C 14: 36,790,031 (GRCm39) probably benign Het
Luc7l C A 17: 26,472,054 (GRCm39) T17K probably damaging Het
Mmut A G 17: 41,249,708 (GRCm39) T228A possibly damaging Het
Mroh1 G T 15: 76,330,799 (GRCm39) S1161I possibly damaging Het
Muc5b T G 7: 141,407,104 (GRCm39) C1091G unknown Het
Nppb A T 4: 148,070,463 (GRCm39) I11F probably benign Het
Nsf A T 11: 103,719,351 (GRCm39) D650E probably benign Het
Ogdh A G 11: 6,305,015 (GRCm39) K907E probably damaging Het
Or1b1 G A 2: 36,995,437 (GRCm39) S75F probably benign Het
Or1j15 A G 2: 36,458,820 (GRCm39) D70G probably damaging Het
Or7a35 A G 10: 78,853,555 (GRCm39) Y133C probably damaging Het
Pcnx1 A T 12: 81,907,156 (GRCm39) Q4L possibly damaging Het
Pgc T A 17: 48,037,856 (GRCm39) L9H probably damaging Het
Pikfyve T A 1: 65,285,556 (GRCm39) S887T probably benign Het
Plec T C 15: 76,059,815 (GRCm39) D3239G probably damaging Het
Pole4 T C 6: 82,625,015 (GRCm39) T116A probably benign Het
Potegl T C 2: 23,120,212 (GRCm39) F203L probably damaging Het
Prpf8 A G 11: 75,381,498 (GRCm39) N300D possibly damaging Het
Rara T A 11: 98,858,907 (GRCm39) Y119N probably damaging Het
Rbck1 G T 2: 152,160,294 (GRCm39) R462S possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slfn2 C A 11: 82,960,670 (GRCm39) N216K probably benign Het
Suox A G 10: 128,507,967 (GRCm39) probably benign Het
Tars1 T A 15: 11,391,280 (GRCm39) Y283F probably damaging Het
Trpm4 A T 7: 44,967,603 (GRCm39) probably null Het
Ubtd2 A T 11: 32,449,262 (GRCm39) K36N probably benign Het
Unkl T C 17: 25,448,408 (GRCm39) L327P probably damaging Het
Vmn1r11 T A 6: 57,114,364 (GRCm39) Y9* probably null Het
Vps13b T C 15: 35,572,227 (GRCm39) V948A probably benign Het
Zbtb17 A G 4: 141,192,264 (GRCm39) H403R probably damaging Het
Other mutations in Elf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02470:Elf3 APN 1 135,182,750 (GRCm39) missense probably damaging 1.00
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