Incidental Mutation 'R6414:Elp4'
ID 514841
Institutional Source Beutler Lab
Gene Symbol Elp4
Ensembl Gene ENSMUSG00000027167
Gene Name elongator acetyltransferase complex subunit 4
Synonyms A330107A17Rik, Paxneb
MMRRC Submission 044556-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R6414 (G1)
Quality Score 212.009
Status Validated
Chromosome 2
Chromosomal Location 105531372-105734909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105734788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 16 (S16P)
Ref Sequence ENSEMBL: ENSMUSP00000116575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037499] [ENSMUST00000122965]
AlphaFold Q9ER73
Predicted Effect probably benign
Transcript: ENSMUST00000037499
SMART Domains Protein: ENSMUSP00000049044
Gene: ENSMUSG00000042670

DomainStartEndE-ValueType
Pfam:Peptidase_S24 36 107 1.8e-16 PFAM
Pfam:Peptidase_S26 95 146 1e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000122965
AA Change: S16P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116575
Gene: ENSMUSG00000027167
AA Change: S16P

DomainStartEndE-ValueType
Pfam:PAXNEB 28 422 4e-123 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148441
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 98% (57/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T A 4: 144,503,985 (GRCm39) I389L possibly damaging Het
Acap1 A G 11: 69,775,162 (GRCm39) V367A probably benign Het
Alpk1 T C 3: 127,473,858 (GRCm39) D715G probably benign Het
Atg101 T A 15: 101,188,341 (GRCm39) C149S probably benign Het
Atp2c1 A T 9: 105,343,855 (GRCm39) I84N probably damaging Het
Ceacam20 C A 7: 19,710,056 (GRCm39) A360E probably damaging Het
Chd3 A T 11: 69,243,371 (GRCm39) probably null Het
Clcc1 G A 3: 108,584,167 (GRCm39) C517Y possibly damaging Het
Col6a5 T C 9: 105,769,465 (GRCm39) probably null Het
Ctnna3 T C 10: 64,096,644 (GRCm39) V394A probably benign Het
Ctsll3 A G 13: 60,948,113 (GRCm39) F188S probably damaging Het
Cyth4 T C 15: 78,492,346 (GRCm39) V125A probably damaging Het
Ddx43 G A 9: 78,308,218 (GRCm39) V131I probably benign Het
Espl1 T A 15: 102,223,995 (GRCm39) V1182E probably damaging Het
Fhod3 T C 18: 25,223,935 (GRCm39) S1094P possibly damaging Het
Fmo6 A T 1: 162,748,014 (GRCm39) V350D probably damaging Het
Frem1 A G 4: 82,858,773 (GRCm39) F1545S probably damaging Het
Gata3 T A 2: 9,863,245 (GRCm39) H423L possibly damaging Het
Golt1a A T 1: 133,248,032 (GRCm39) M87L probably damaging Het
Gpr171 A T 3: 59,005,544 (GRCm39) V77E probably damaging Het
Hectd2 A G 19: 36,596,186 (GRCm39) D757G probably benign Het
Hmmr A G 11: 40,606,694 (GRCm39) probably null Het
Il31ra A G 13: 112,660,441 (GRCm39) V635A possibly damaging Het
Lama1 T C 17: 68,053,905 (GRCm39) probably null Het
Ltbp4 G A 7: 27,010,140 (GRCm39) P1140L probably damaging Het
Macf1 A G 4: 123,386,988 (GRCm39) L1210P possibly damaging Het
Meox2 A T 12: 37,158,830 (GRCm39) M1L probably benign Het
Mex3d A G 10: 80,217,205 (GRCm39) S671P unknown Het
Mrgprb2 C T 7: 48,202,129 (GRCm39) V199I probably benign Het
Mroh9 A T 1: 162,902,271 (GRCm39) V114E probably damaging Het
Muc5b A G 7: 141,412,834 (GRCm39) K1927E unknown Het
Or4f52 A C 2: 111,061,497 (GRCm39) probably null Het
Or6c35 T A 10: 129,169,578 (GRCm39) I276K probably benign Het
Otogl C T 10: 107,617,911 (GRCm39) C1734Y probably damaging Het
Parp4 T A 14: 56,864,838 (GRCm39) probably null Het
Pcdh15 T A 10: 74,021,258 (GRCm39) N162K probably damaging Het
Pcdhb10 A C 18: 37,546,898 (GRCm39) H658P possibly damaging Het
Pgm2l1 G T 7: 99,904,747 (GRCm39) A160S possibly damaging Het
Prkag2 T A 5: 25,305,178 (GRCm39) probably benign Het
Rap1gap2 A G 11: 74,296,616 (GRCm39) L457P probably damaging Het
Rasef C T 4: 73,658,818 (GRCm39) V463M probably benign Het
Rb1 T C 14: 73,520,414 (GRCm39) S42G unknown Het
Reep3 C A 10: 66,875,356 (GRCm39) V36F probably damaging Het
Rhcg A G 7: 79,248,716 (GRCm39) probably null Het
Sbno1 T C 5: 124,533,994 (GRCm39) S661G probably benign Het
Slc25a3 T G 10: 90,958,190 (GRCm39) Q50P possibly damaging Het
Slc2a13 T A 15: 91,228,008 (GRCm39) I395F probably benign Het
Slc6a5 C T 7: 49,559,991 (GRCm39) probably benign Het
Snta1 G C 2: 154,219,987 (GRCm39) T391S possibly damaging Het
Spata7 T C 12: 98,629,479 (GRCm39) probably null Het
Stx17 A G 4: 48,158,809 (GRCm39) probably null Het
Terf2 A T 8: 107,803,486 (GRCm39) S365T probably benign Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Trim8 A T 19: 46,491,346 (GRCm39) H155L probably benign Het
Wipi2 T A 5: 142,641,693 (GRCm39) V83D probably damaging Het
Zbtb47 T G 9: 121,592,725 (GRCm39) D348E probably benign Het
Zfp316 C A 5: 143,240,639 (GRCm39) R460L possibly damaging Het
Zfp799 C T 17: 33,039,259 (GRCm39) V336M probably damaging Het
Zfp947 A T 17: 22,365,395 (GRCm39) I93N probably damaging Het
Zranb3 A G 1: 127,968,694 (GRCm39) Y74H 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
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
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'- TATTCTGAACCGACCTAAGAGCTG -3'
(R):5'- TTACGCACCGCACTTTTCAG -3'

Sequencing Primer
(F):5'- ACCTAAGAGCTGGTCCAGG -3'
(R):5'- CGCACTTTTCAGCAATAGGC -3'
Posted On 2018-05-04