Incidental Mutation 'R0685:Elp4'
ID 61101
Institutional Source Beutler Lab
Gene Symbol Elp4
Ensembl Gene ENSMUSG00000027167
Gene Name elongator acetyltransferase complex subunit 4
Synonyms A330107A17Rik, Paxneb
MMRRC Submission 038870-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R0685 (G1)
Quality Score 139
Status Validated
Chromosome 2
Chromosomal Location 105531372-105734909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 105622622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 241 (C241F)
Ref Sequence ENSEMBL: ENSMUSP00000028588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028588] [ENSMUST00000122965]
AlphaFold Q9ER73
Predicted Effect possibly damaging
Transcript: ENSMUST00000028588
AA Change: C241F

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028588
Gene: ENSMUSG00000027167
AA Change: C241F

DomainStartEndE-ValueType
Pfam:PAXNEB 2 270 9.1e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122965
AA Change: C359F

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000116575
Gene: ENSMUSG00000027167
AA Change: C359F

DomainStartEndE-ValueType
Pfam:PAXNEB 28 422 4e-123 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152272
Meta Mutation Damage Score 0.1433 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 98% (89/91)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,469,337 (GRCm39) D17G probably damaging Het
Abi3bp A G 16: 56,353,316 (GRCm39) T82A possibly damaging Het
Adgre4 A C 17: 56,099,035 (GRCm39) E180D probably benign Het
Ankrd28 G A 14: 31,465,407 (GRCm39) probably benign Het
Aoc3 A G 11: 101,227,273 (GRCm39) D382G possibly damaging Het
Apob C A 12: 8,060,742 (GRCm39) R3075S probably benign Het
Aqr A G 2: 113,971,458 (GRCm39) F459S probably damaging Het
Bcr T C 10: 74,967,475 (GRCm39) W570R probably damaging Het
Bloc1s5 C T 13: 38,787,895 (GRCm39) R163K probably benign Het
Bod1 A T 11: 31,619,267 (GRCm39) N101K possibly damaging Het
Bysl A T 17: 47,913,396 (GRCm39) S296T probably benign Het
Chl1 G A 6: 103,685,503 (GRCm39) probably null Het
Clstn1 G A 4: 149,731,312 (GRCm39) A885T probably benign Het
Cyp3a25 G T 5: 145,935,356 (GRCm39) P87T probably damaging Het
Dync1h1 T C 12: 110,623,626 (GRCm39) V3633A probably damaging Het
Dynlt5 T C 4: 102,859,735 (GRCm39) Y96H probably damaging Het
Fat4 T A 3: 39,055,327 (GRCm39) F4182Y probably benign Het
Gabbr2 G A 4: 46,787,521 (GRCm39) H381Y possibly damaging Het
Gm10577 G T 4: 100,877,515 (GRCm39) probably benign Het
Gm9955 G T 18: 24,842,314 (GRCm39) probably benign Het
Gstm5 T A 3: 107,804,635 (GRCm39) I73N probably damaging Het
Gypa T A 8: 81,223,331 (GRCm39) probably benign Het
Hectd2 T A 19: 36,546,831 (GRCm39) V64D probably damaging Het
Igkv10-95 T A 6: 68,657,543 (GRCm39) Y20N probably benign Het
Il15 T C 8: 83,064,188 (GRCm39) probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kiz C A 2: 146,697,978 (GRCm39) probably benign Het
Lcmt2 C A 2: 120,969,721 (GRCm39) S234I probably benign Het
Lilra5 A G 7: 4,244,956 (GRCm39) probably benign Het
Lin37 T C 7: 30,255,299 (GRCm39) E187G probably damaging Het
Lrrc37 T C 11: 103,507,714 (GRCm39) probably benign Het
Mcmdc2 T A 1: 9,982,039 (GRCm39) probably null Het
Mctp1 T C 13: 76,973,918 (GRCm39) probably null Het
Mdp1 C A 14: 55,896,726 (GRCm39) G112* probably null Het
Mmp15 T C 8: 96,098,762 (GRCm39) Y530H possibly damaging Het
Mtss2 T C 8: 111,454,029 (GRCm39) probably null Het
Muc5ac T C 7: 141,361,446 (GRCm39) S1586P probably benign Het
Nap1l5 A T 6: 58,883,757 (GRCm39) C66S possibly damaging Het
Ninl G T 2: 150,781,775 (GRCm39) Q1237K possibly damaging Het
Or5p70 A T 7: 107,994,470 (GRCm39) T48S possibly damaging Het
Or9m1b T C 2: 87,836,762 (GRCm39) E111G probably damaging Het
Orc6 T G 8: 86,027,783 (GRCm39) S37R possibly damaging Het
Papss1 A C 3: 131,288,854 (GRCm39) N119H possibly damaging Het
Phf13 A T 4: 152,076,069 (GRCm39) F278I probably damaging Het
Pole2 C A 12: 69,258,187 (GRCm39) A239S probably damaging Het
Ppt2 T C 17: 34,845,546 (GRCm39) D75G probably damaging Het
Psd2 A G 18: 36,136,044 (GRCm39) D443G possibly damaging Het
Psen1 C A 12: 83,761,594 (GRCm39) S132* probably null Het
Psme4 A G 11: 30,828,415 (GRCm39) T1812A probably damaging Het
Rasgrf1 T C 9: 89,797,535 (GRCm39) probably benign Het
Reep3 A G 10: 66,857,518 (GRCm39) probably benign Het
Rexo4 A T 2: 26,848,586 (GRCm39) probably benign Het
Rnf6 A C 5: 146,148,468 (GRCm39) S183R probably damaging Het
Scai A T 2: 38,993,749 (GRCm39) M297K probably damaging Het
Scn9a A T 2: 66,313,843 (GRCm39) S1947R probably benign Het
Sema6c T C 3: 95,080,021 (GRCm39) C772R possibly damaging Het
Skint7 T C 4: 111,837,542 (GRCm39) S107P possibly damaging Het
Slc24a3 A G 2: 145,448,715 (GRCm39) N420D probably benign Het
Smc1b T C 15: 84,955,021 (GRCm39) D1077G possibly damaging Het
Smg7 G A 1: 152,742,399 (GRCm39) P82L probably damaging Het
Sp3 A C 2: 72,801,342 (GRCm39) F268V probably damaging Het
Srms T C 2: 180,854,426 (GRCm39) D47G probably benign Het
Ss18 A C 18: 14,784,238 (GRCm39) M150R probably damaging Het
Taf5 G A 19: 47,063,293 (GRCm39) R281Q probably benign Het
Tars1 T C 15: 11,385,259 (GRCm39) K644R probably benign Het
Tinag C A 9: 76,859,285 (GRCm39) W441L probably damaging Het
Tmtc1 T C 6: 148,312,738 (GRCm39) S244G probably benign Het
Tpr T C 1: 150,309,476 (GRCm39) V1670A possibly damaging Het
Trpv3 A G 11: 73,187,640 (GRCm39) probably benign Het
Uhrf1 G T 17: 56,617,742 (GRCm39) V155L probably damaging Het
Ush2a G A 1: 188,132,475 (GRCm39) C899Y probably damaging Het
Vmn2r115 G A 17: 23,578,249 (GRCm39) R574H probably benign Het
Vmn2r63 T C 7: 42,577,434 (GRCm39) D368G probably benign Het
Vps13a A G 19: 16,758,105 (GRCm39) V10A probably damaging Het
Wbp11 A G 6: 136,791,636 (GRCm39) probably benign Het
Zcwpw1 A G 5: 137,797,854 (GRCm39) D145G probably benign Het
Zfp607a G A 7: 27,577,901 (GRCm39) V324I probably damaging Het
Zfp618 A G 4: 63,052,011 (GRCm39) I931V probably benign Het
Zfp821 T C 8: 110,451,174 (GRCm39) V389A possibly damaging Het
Zfp976 T A 7: 42,263,141 (GRCm39) H232L probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TTGAAAGCCTTGGAGATCCATGTCG -3'
(R):5'- AAAGCCTTGTTTTGCTGGCTGC -3'

Sequencing Primer
(F):5'- CTTGGAGATCCATGTCGTATTTATC -3'
(R):5'- GCAAGGTGATAGCCATATTTGCTTAC -3'
Posted On 2013-07-30