Incidental Mutation 'R3499:Elf4'
ID 273730
Institutional Source Beutler Lab
Gene Symbol Elf4
Ensembl Gene ENSMUSG00000031103
Gene Name E74 like ETS transcription factor 4
Synonyms myeloid elf-1 like factor, MEF
MMRRC Submission 040662-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R3499 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 47499926-47552009 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47507942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 158 (E158K)
Ref Sequence ENSEMBL: ENSMUSP00000110608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033429] [ENSMUST00000114958] [ENSMUST00000140486]
AlphaFold Q9Z2U4
Predicted Effect probably benign
Transcript: ENSMUST00000033429
AA Change: E158K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000033429
Gene: ENSMUSG00000031103
AA Change: E158K

DomainStartEndE-ValueType
Pfam:Elf-1_N 2 103 5.2e-33 PFAM
low complexity region 153 165 N/A INTRINSIC
low complexity region 174 187 N/A INTRINSIC
ETS 207 294 8.9e-51 SMART
low complexity region 300 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114958
AA Change: E158K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000110608
Gene: ENSMUSG00000031103
AA Change: E158K

DomainStartEndE-ValueType
Pfam:Elf-1_N 1 103 2.8e-39 PFAM
low complexity region 153 165 N/A INTRINSIC
low complexity region 174 187 N/A INTRINSIC
ETS 207 294 8.9e-51 SMART
low complexity region 300 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140486
AA Change: E158K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000118436
Gene: ENSMUSG00000031103
AA Change: E158K

DomainStartEndE-ValueType
Pfam:Elf-1_N 1 103 2.6e-39 PFAM
low complexity region 153 165 N/A INTRINSIC
low complexity region 174 187 N/A INTRINSIC
ETS 207 294 8.9e-51 SMART
low complexity region 300 332 N/A INTRINSIC
Meta Mutation Damage Score 0.0714 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene have hematopoietic cells with impaired proliferative properties. Lymphocyte development and function is altered, particularly with respect to NK cells and NK-T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430571L13Rik A T 9: 107,219,678 (GRCm39) T44S probably damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Ctif A T 18: 75,744,828 (GRCm39) L92Q possibly damaging Het
Dnah11 C A 12: 117,874,758 (GRCm39) D4036Y probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnah6 G C 6: 73,009,616 (GRCm39) A3725G probably benign Het
Ebag9 A G 15: 44,493,528 (GRCm39) N117D probably benign Het
Ephb6 C T 6: 41,593,093 (GRCm39) R444* probably null Het
Fcgbpl1 T A 7: 27,853,980 (GRCm39) I1648K probably benign Het
Fndc1 C T 17: 7,972,416 (GRCm39) M1505I possibly damaging Het
Gpr35 A G 1: 92,911,113 (GRCm39) Y275C probably damaging Het
Hmcn1 A T 1: 150,480,853 (GRCm39) I4441N probably damaging Het
Kif13a T C 13: 46,978,815 (GRCm39) D195G probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Ksr2 C A 5: 117,827,640 (GRCm39) T473K probably damaging Het
Kxd1 T C 8: 70,966,632 (GRCm39) probably null Het
Lyplal1 A G 1: 185,820,857 (GRCm39) S197P possibly damaging Het
Macf1 A T 4: 123,421,098 (GRCm39) L52* probably null Het
Mrgprb5 A G 7: 47,818,661 (GRCm39) S25P probably benign Het
Nucb1 T C 7: 45,148,300 (GRCm39) H171R probably benign Het
Or10d1c A G 9: 38,893,761 (GRCm39) L193P probably damaging Het
Or4a15 A T 2: 89,193,294 (GRCm39) F160I probably benign Het
Or56b35 G A 7: 104,963,607 (GRCm39) C132Y probably damaging Het
Or8h8 A G 2: 86,753,373 (GRCm39) F168L possibly damaging Het
Or8k18 A G 2: 86,085,185 (GRCm39) M284T possibly damaging Het
Prkdc A T 16: 15,585,889 (GRCm39) I2476F probably damaging Het
Ptprf A T 4: 118,082,127 (GRCm39) I1037N probably damaging Het
Ralgapa1 T G 12: 55,741,928 (GRCm39) probably benign Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc28a3 C T 13: 58,721,253 (GRCm39) probably benign Het
Slc44a4 A G 17: 35,140,656 (GRCm39) D283G probably benign Het
Slc6a9 A G 4: 117,714,000 (GRCm39) I105V probably benign Het
Smgc A G 15: 91,726,206 (GRCm39) T51A possibly damaging Het
Smyd5 T A 6: 85,415,172 (GRCm39) L60H probably damaging Het
Spred1 A T 2: 117,005,867 (GRCm39) M210L probably benign Het
Syne2 G A 12: 76,101,752 (GRCm39) probably null Het
Tab3 T C X: 84,658,727 (GRCm39) I418T probably benign Het
Tbc1d12 A T 19: 38,884,478 (GRCm39) E343V possibly damaging Het
Tktl2 T A 8: 66,965,897 (GRCm39) I485N probably damaging Het
Tmem181a T A 17: 6,330,894 (GRCm39) Y51* probably null Het
Tmem229b-ps C T 10: 53,351,223 (GRCm39) noncoding transcript Het
Trip11 A G 12: 101,859,953 (GRCm39) I307T possibly damaging Het
Ttf1 T C 2: 28,955,499 (GRCm39) S288P possibly damaging Het
Zfp395 G T 14: 65,628,742 (GRCm39) R198L possibly damaging Het
Other mutations in Elf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03292:Elf4 APN X 47,503,583 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTGGACCAAAGAGATAGC -3'
(R):5'- TTTGAGAACGGCATCTGCAC -3'

Sequencing Primer
(F):5'- GCACCTTAATGTATCTGCAAGC -3'
(R):5'- CCCATTTTACTCTGGAGTTACAAGAG -3'
Posted On 2015-04-02