Incidental Mutation 'R4467:Elf3'
ID 329213
Institutional Source Beutler Lab
Gene Symbol Elf3
Ensembl Gene ENSMUSG00000003051
Gene Name E74-like factor 3
Synonyms ESX, jen, ESE-1
MMRRC Submission 041724-MU
Accession Numbers

Ncbi RefSeq: NM_001163131.1, NM_007921.3; MGI:1101781

Essential gene? Probably essential (E-score: 0.891) question?
Stock # R4467 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 135253575-135258568 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135256844 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 138 (I138T)
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: I158T

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000003135
Gene: ENSMUSG00000003051
AA Change: I158T

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: I138T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139769
Gene: ENSMUSG00000003051
AA Change: I138T

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
Meta Mutation Damage Score 0.1131 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 98% (52/53)
MGI Phenotype Strain: 2662485
Lethality: D11-D21
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 63,898,839 (GRCm38) probably benign Het
4930402H24Rik A G 2: 130,767,647 (GRCm38) I372T probably damaging Het
Atg4a-ps A G 3: 103,645,855 (GRCm38) Y57H probably damaging Het
Bag4 C T 8: 25,769,488 (GRCm38) A228T probably benign Het
Bms1 G A 6: 118,383,847 (GRCm38) T1220I probably damaging Het
Brat1 T C 5: 140,705,071 (GRCm38) probably benign Het
Casc1 A T 6: 145,183,218 (GRCm38) probably null Het
Cds2 T A 2: 132,294,446 (GRCm38) Y39* probably null Het
Chrnd T A 1: 87,197,377 (GRCm38) L384Q probably damaging Het
Cpa3 A T 3: 20,228,817 (GRCm38) Y155* probably null Het
Crlf1 G A 8: 70,500,956 (GRCm38) W260* probably null Het
Cux1 C G 5: 136,312,722 (GRCm38) E605D probably damaging Het
Cylc2 C G 4: 51,229,651 (GRCm38) T331R unknown Het
Dmtf1 T C 5: 9,136,085 (GRCm38) N167S probably damaging Het
Dtx2 T A 5: 136,012,076 (GRCm38) W112R probably damaging Het
F11 T A 8: 45,241,474 (GRCm38) I617F probably damaging Het
Fdps A T 3: 89,100,786 (GRCm38) D8E possibly damaging Het
Fzd10 C A 5: 128,601,276 (GRCm38) T20K probably benign Het
Gm9978 T A 10: 78,486,916 (GRCm38) noncoding transcript Het
Gpr158 T A 2: 21,826,999 (GRCm38) M970K probably damaging Het
Has1 C T 17: 17,843,995 (GRCm38) V461M probably benign Het
Hdac3 C T 18: 37,952,513 (GRCm38) G80D probably benign Het
Klk12 A T 7: 43,773,383 (GRCm38) R245W probably damaging Het
Lamp5 A G 2: 136,059,020 (GRCm38) I47V probably damaging Het
Olfr786 T C 10: 129,437,064 (GRCm38) I84T probably benign Het
Ovgp1 A G 3: 105,977,711 (GRCm38) D122G probably benign Het
Piezo1 T C 8: 122,486,396 (GRCm38) E1875G probably benign Het
Pih1d1 A G 7: 45,158,497 (GRCm38) M132V possibly damaging Het
Pon2 C T 6: 5,267,021 (GRCm38) A241T probably benign Het
Prkce A G 17: 86,619,911 (GRCm38) I538V possibly damaging Het
Rab36 C T 10: 75,052,043 (GRCm38) R249* probably null Het
Rps6kl1 C T 12: 85,147,808 (GRCm38) A110T probably damaging Het
Rsad1 T C 11: 94,544,530 (GRCm38) T244A probably benign Het
Slc22a7 T C 17: 46,432,510 (GRCm38) I532V probably benign Het
Slc2a7 T C 4: 150,163,274 (GRCm38) V377A possibly damaging Het
Slx4 A G 16: 3,989,055 (GRCm38) V508A possibly damaging Het
Stag2 A G X: 42,233,872 (GRCm38) S400G probably benign Het
Stat6 T G 10: 127,651,228 (GRCm38) I201M probably damaging Het
Stim2 T C 5: 54,116,194 (GRCm38) probably null Het
Tbc1d9 A G 8: 83,210,478 (GRCm38) Y63C probably damaging Het
Tctn2 T C 5: 124,620,189 (GRCm38) noncoding transcript Het
Tmem181a T A 17: 6,295,786 (GRCm38) L185H probably damaging Het
Ubr5 T A 15: 38,004,336 (GRCm38) T1282S probably damaging Het
Ufl1 A T 4: 25,254,806 (GRCm38) I550N probably damaging Het
Uty A G Y: 1,158,372 (GRCm38) V557A possibly damaging Het
Vmn1r54 T C 6: 90,269,271 (GRCm38) S56P probably damaging Het
Zfp980 G A 4: 145,702,083 (GRCm38) G461S probably benign Het
Other mutations in Elf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02141:Elf3 APN 1 135,257,707 (GRCm38) missense possibly damaging 0.94
IGL02470:Elf3 APN 1 135,255,012 (GRCm38) missense probably damaging 1.00
IGL03018:Elf3 APN 1 135,256,065 (GRCm38) missense possibly damaging 0.62
IGL03252:Elf3 APN 1 135,254,953 (GRCm38) missense probably damaging 1.00
P0026:Elf3 UTSW 1 135,255,973 (GRCm38) critical splice donor site probably null
R0087:Elf3 UTSW 1 135,257,137 (GRCm38) missense probably damaging 1.00
R1842:Elf3 UTSW 1 135,256,793 (GRCm38) missense possibly damaging 0.65
R1897:Elf3 UTSW 1 135,257,137 (GRCm38) missense probably damaging 1.00
R2081:Elf3 UTSW 1 135,257,076 (GRCm38) missense probably benign 0.12
R4049:Elf3 UTSW 1 135,254,277 (GRCm38) missense probably benign 0.21
R4630:Elf3 UTSW 1 135,256,740 (GRCm38) intron probably benign
R4715:Elf3 UTSW 1 135,257,752 (GRCm38) missense probably damaging 1.00
R4923:Elf3 UTSW 1 135,256,735 (GRCm38) intron probably benign
R5226:Elf3 UTSW 1 135,257,239 (GRCm38) missense probably benign 0.07
R5422:Elf3 UTSW 1 135,255,040 (GRCm38) missense probably damaging 0.98
R5706:Elf3 UTSW 1 135,256,482 (GRCm38) missense probably benign 0.01
R7115:Elf3 UTSW 1 135,257,118 (GRCm38) missense probably damaging 1.00
R7644:Elf3 UTSW 1 135,256,506 (GRCm38) missense possibly damaging 0.89
R7855:Elf3 UTSW 1 135,254,352 (GRCm38) missense probably damaging 1.00
R7940:Elf3 UTSW 1 135,257,128 (GRCm38) missense probably damaging 1.00
R8315:Elf3 UTSW 1 135,256,576 (GRCm38) missense probably benign 0.00
R8723:Elf3 UTSW 1 135,257,647 (GRCm38) missense possibly damaging 0.95
R8724:Elf3 UTSW 1 135,254,360 (GRCm38) missense probably damaging 1.00
R8906:Elf3 UTSW 1 135,254,940 (GRCm38) missense probably damaging 1.00
R8960:Elf3 UTSW 1 135,255,075 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAGAGAGGCCCAGGATACC -3'
(R):5'- TCGGGACCTCAGTAAGTCTAGG -3'

Sequencing Primer
(F):5'- TCCAGGGACCACAGAAATGACTATG -3'
(R):5'- ACCTCAGTAAGTCTAGGCTGGG -3'
Posted On 2015-07-21