Incidental Mutation 'R1117:Elp4'
ID 97390
Institutional Source Beutler Lab
Gene Symbol Elp4
Ensembl Gene ENSMUSG00000027167
Gene Name elongator acetyltransferase complex subunit 4
Synonyms A330107A17Rik, Paxneb
MMRRC Submission 039190-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R1117 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 105531372-105734909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105672656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 143 (D143G)
Ref Sequence ENSEMBL: ENSMUSP00000116575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028588] [ENSMUST00000122965]
AlphaFold Q9ER73
Predicted Effect probably benign
Transcript: ENSMUST00000028588
AA Change: D25G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000028588
Gene: ENSMUSG00000027167
AA Change: D25G

DomainStartEndE-ValueType
Pfam:PAXNEB 2 270 9.1e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122965
AA Change: D143G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000116575
Gene: ENSMUSG00000027167
AA Change: D143G

DomainStartEndE-ValueType
Pfam:PAXNEB 28 422 4e-123 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.1%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 G A 10: 83,344,487 (GRCm39) T353I probably benign Het
Arpc1b T C 5: 145,062,564 (GRCm39) V226A possibly damaging Het
Casz1 C A 4: 149,019,052 (GRCm39) T451K probably damaging Het
Ccr4 C T 9: 114,321,085 (GRCm39) V327M probably benign Het
Cntrl A G 2: 35,017,985 (GRCm39) E465G probably damaging Het
Cpa1 A G 6: 30,645,260 (GRCm39) D412G probably benign Het
Crispld1 T A 1: 17,819,846 (GRCm39) N281K probably benign Het
Cul3 T C 1: 80,258,641 (GRCm39) Q465R probably damaging Het
Cyp2c68 G A 19: 39,700,903 (GRCm39) T305M probably damaging Het
Etnppl A G 3: 130,428,212 (GRCm39) I462M probably benign Het
Fmo4 A G 1: 162,631,232 (GRCm39) V245A probably benign Het
Gm4076 A G 13: 85,275,437 (GRCm39) noncoding transcript Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Kcnj15 G A 16: 95,096,484 (GRCm39) M8I probably benign Het
Klk1b22 A T 7: 43,766,283 (GRCm39) M255L probably benign Het
Mmrn1 T A 6: 60,953,309 (GRCm39) I530K possibly damaging Het
Muc21 T C 17: 35,930,920 (GRCm39) probably benign Het
Nid2 A C 14: 19,813,732 (GRCm39) probably null Het
Or10g6 T C 9: 39,934,058 (GRCm39) F123S probably damaging Het
Or10h28 C T 17: 33,487,940 (GRCm39) R81* probably null Het
Or9e1 A G 11: 58,732,641 (GRCm39) K234E possibly damaging Het
Peak1 G A 9: 56,165,702 (GRCm39) T742M probably benign Het
Sel1l3 T A 5: 53,329,949 (GRCm39) T469S probably benign Het
Sez6 A G 11: 77,865,340 (GRCm39) Y659C probably damaging Het
Slc19a2 A T 1: 164,091,025 (GRCm39) I278F possibly damaging Het
Slc36a3 T C 11: 55,037,006 (GRCm39) I100V possibly damaging Het
Tcerg1 A G 18: 42,707,717 (GRCm39) D1079G probably damaging Het
Trim43c T C 9: 88,727,030 (GRCm39) S286P probably benign Het
Umod T C 7: 119,076,529 (GRCm39) N79S possibly damaging Het
Wdr43 A G 17: 71,923,382 (GRCm39) T43A probably benign Het
Other mutations in Elp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00648:Elp4 APN 2 105,672,711 (GRCm39) splice site probably benign
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
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
Predicted Primers
Posted On 2014-01-05