Incidental Mutation 'IGL03292:Elf4'
ID 415943
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elf4
Ensembl Gene ENSMUSG00000031103
Gene Name E74 like ETS transcription factor 4
Synonyms myeloid elf-1 like factor, MEF
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # IGL03292
Quality Score
Status
Chromosome X
Chromosomal Location 47499926-47552009 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 47503583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 642 (F642C)
Ref Sequence ENSEMBL: ENSMUSP00000110608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033429] [ENSMUST00000114958] [ENSMUST00000140486]
AlphaFold Q9Z2U4
Predicted Effect probably damaging
Transcript: ENSMUST00000033429
AA Change: F642C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033429
Gene: ENSMUSG00000031103
AA Change: F642C

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 damaging
Transcript: ENSMUST00000114958
AA Change: F642C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110608
Gene: ENSMUSG00000031103
AA Change: F642C

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
SMART Domains Protein: ENSMUSP00000118436
Gene: ENSMUSG00000031103

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
Coding Region Coverage
Validation Efficiency
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,765,827 (GRCm39) C713Y possibly damaging Het
Arhgap45 A G 10: 79,856,803 (GRCm39) N205S probably benign Het
Arhgef5 T G 6: 43,257,180 (GRCm39) F1244V probably damaging Het
Bbs2 A G 8: 94,801,749 (GRCm39) probably null Het
Chsy1 A C 7: 65,775,120 (GRCm39) M150L probably benign Het
Dync1h1 T A 12: 110,632,989 (GRCm39) probably null Het
Efhc1 T C 1: 21,030,496 (GRCm39) I143T possibly damaging Het
Fgfr1 A G 8: 26,047,771 (GRCm39) D128G possibly damaging Het
Fras1 T A 5: 96,855,350 (GRCm39) I1953N probably damaging Het
Frmpd4 A T X: 166,260,586 (GRCm39) I1052K probably benign Het
Ift52 T A 2: 162,865,320 (GRCm39) I57N probably damaging Het
Lilrb4a G A 10: 51,370,942 (GRCm39) probably null Het
Mob3a A T 10: 80,526,920 (GRCm39) I135N probably benign Het
Pcdhb16 T A 18: 37,613,437 (GRCm39) I799N probably damaging Het
Rad52 T C 6: 119,895,934 (GRCm39) L265P possibly damaging Het
Sorbs1 T A 19: 40,362,009 (GRCm39) Q155L possibly damaging Het
Taok1 A T 11: 77,430,962 (GRCm39) M821K probably benign Het
Tars1 T A 15: 11,384,107 (GRCm39) E720V probably benign Het
Tec T C 5: 72,914,707 (GRCm39) E603G probably null Het
Timp1 A G X: 20,739,057 (GRCm39) T56A probably benign Het
Txnrd2 C A 16: 18,296,479 (GRCm39) H511Q possibly damaging Het
Ubr4 A T 4: 139,167,746 (GRCm39) D2743V probably damaging Het
Vmn1r211 C T 13: 23,036,613 (GRCm39) G18D probably damaging Het
Zfhx4 C T 3: 5,476,840 (GRCm39) Q3127* probably null Het
Other mutations in Elf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3499:Elf4 UTSW X 47,507,942 (GRCm39) missense probably benign 0.02
Posted On 2016-08-02