Incidental Mutation 'IGL00648:Elp4'
ID 10469
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elp4
Ensembl Gene ENSMUSG00000027167
Gene Name elongator acetyltransferase complex subunit 4
Synonyms A330107A17Rik, Paxneb
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL00648
Quality Score
Status
Chromosome 2
Chromosomal Location 105531372-105734909 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 105672711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028588] [ENSMUST00000122965]
AlphaFold Q9ER73
Predicted Effect probably benign
Transcript: ENSMUST00000028588
SMART Domains Protein: ENSMUSP00000028588
Gene: ENSMUSG00000027167

DomainStartEndE-ValueType
Pfam:PAXNEB 2 270 9.1e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122965
SMART Domains Protein: ENSMUSP00000116575
Gene: ENSMUSG00000027167

DomainStartEndE-ValueType
Pfam:PAXNEB 28 422 4e-123 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cage1 G T 13: 38,206,969 (GRCm39) S398* probably null Het
Calr T A 8: 85,569,331 (GRCm39) probably benign Het
Cmah A T 13: 24,644,259 (GRCm39) K459* probably null Het
Edem1 T A 6: 108,828,168 (GRCm39) probably null Het
Fam3b C T 16: 97,279,599 (GRCm39) G110E probably damaging Het
Fmnl3 G A 15: 99,220,551 (GRCm39) T577I probably damaging Het
Nbea A G 3: 55,916,681 (GRCm39) S860P probably damaging Het
Nlrp1a T C 11: 70,983,783 (GRCm39) T1082A probably benign Het
Pbrm1 A T 14: 30,774,240 (GRCm39) I469F probably damaging Het
Ptprq G A 10: 107,482,577 (GRCm39) L999F probably benign Het
Taar6 C T 10: 23,861,406 (GRCm39) V47M probably benign Het
Tom1l2 T C 11: 60,151,942 (GRCm39) Y155C possibly damaging Het
Other mutations in Elp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Elp4 APN 2 105,622,653 (GRCm39) missense probably damaging 1.00
IGL02173:Elp4 APN 2 105,533,088 (GRCm39) missense probably damaging 0.96
IGL02370:Elp4 APN 2 105,624,937 (GRCm39) missense probably damaging 1.00
R0125:Elp4 UTSW 2 105,622,559 (GRCm39) critical splice donor site probably null
R0685:Elp4 UTSW 2 105,622,622 (GRCm39) missense possibly damaging 0.94
R0893:Elp4 UTSW 2 105,727,290 (GRCm39) splice site probably benign
R1117:Elp4 UTSW 2 105,672,656 (GRCm39) missense probably benign 0.00
R1496:Elp4 UTSW 2 105,662,506 (GRCm39) missense probably benign 0.31
R1542:Elp4 UTSW 2 105,624,954 (GRCm39) missense probably benign 0.02
R1911:Elp4 UTSW 2 105,533,088 (GRCm39) missense probably damaging 0.96
R2311:Elp4 UTSW 2 105,672,677 (GRCm39) missense probably benign 0.00
R2997:Elp4 UTSW 2 105,644,661 (GRCm39) missense possibly damaging 0.82
R3079:Elp4 UTSW 2 105,639,790 (GRCm39) missense possibly damaging 0.95
R3683:Elp4 UTSW 2 105,533,106 (GRCm39) missense possibly damaging 0.75
R4747:Elp4 UTSW 2 105,624,952 (GRCm39) missense probably damaging 1.00
R4799:Elp4 UTSW 2 105,639,612 (GRCm39) missense probably damaging 0.99
R5438:Elp4 UTSW 2 105,734,748 (GRCm39) missense probably damaging 1.00
R5635:Elp4 UTSW 2 105,644,609 (GRCm39) critical splice donor site probably null
R6414:Elp4 UTSW 2 105,734,788 (GRCm39) missense possibly damaging 0.94
R7228:Elp4 UTSW 2 105,622,647 (GRCm39) missense probably damaging 1.00
R7381:Elp4 UTSW 2 105,622,652 (GRCm39) missense not run
R7560:Elp4 UTSW 2 105,624,933 (GRCm39) missense probably damaging 1.00
R7671:Elp4 UTSW 2 105,734,826 (GRCm39) missense probably damaging 0.99
R8376:Elp4 UTSW 2 105,672,653 (GRCm39) missense probably benign 0.00
R8918:Elp4 UTSW 2 105,662,600 (GRCm39) missense probably benign 0.27
R9170:Elp4 UTSW 2 105,624,891 (GRCm39) missense probably damaging 0.99
R9761:Elp4 UTSW 2 105,624,904 (GRCm39) missense probably damaging 0.99
Posted On 2012-12-06