Incidental Mutation 'R7560:Elp4'
ID 584996
Institutional Source Beutler Lab
Gene Symbol Elp4
Ensembl Gene ENSMUSG00000027167
Gene Name elongator acetyltransferase complex subunit 4
Synonyms A330107A17Rik, Paxneb
MMRRC Submission 045626-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R7560 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 105531372-105734909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105624933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 320 (D320V)
Ref Sequence ENSEMBL: ENSMUSP00000116575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028588] [ENSMUST00000122965]
AlphaFold Q9ER73
Predicted Effect probably damaging
Transcript: ENSMUST00000028588
AA Change: D202V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028588
Gene: ENSMUSG00000027167
AA Change: D202V

DomainStartEndE-ValueType
Pfam:PAXNEB 2 270 9.1e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122965
AA Change: D320V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116575
Gene: ENSMUSG00000027167
AA Change: D320V

DomainStartEndE-ValueType
Pfam:PAXNEB 28 422 4e-123 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (100/100)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,932,510 (GRCm39) D502G probably benign Het
Adrb1 T C 19: 56,711,120 (GRCm39) V106A probably damaging Het
Ahcyl2 G T 6: 29,886,139 (GRCm39) G352W probably damaging Het
Ahnak2 T G 12: 112,745,851 (GRCm39) D446A Het
Arhgap42 T C 9: 9,035,532 (GRCm39) D270G probably benign Het
Atp2a1 A G 7: 126,058,828 (GRCm39) V129A possibly damaging Het
B9d2 G A 7: 25,380,784 (GRCm39) probably benign Het
Bace1 A T 9: 45,767,437 (GRCm39) I207F possibly damaging Het
Blnk T A 19: 40,940,834 (GRCm39) I190F possibly damaging Het
Bmp7 C T 2: 172,781,757 (GRCm39) E36K possibly damaging Het
Brsk2 A G 7: 141,554,597 (GRCm39) E654G probably benign Het
Cacna2d3 T C 14: 28,780,378 (GRCm39) H661R probably benign Het
Cdh4 T C 2: 179,532,695 (GRCm39) V719A probably benign Het
Cdkn2d G T 9: 21,200,540 (GRCm39) P77H probably damaging Het
Chd3 A G 11: 69,247,096 (GRCm39) V1024A probably damaging Het
Chsy1 T A 7: 65,820,992 (GRCm39) M409K possibly damaging Het
Chsy1 T C 7: 65,821,319 (GRCm39) L518P probably damaging Het
Cic G A 7: 24,972,278 (GRCm39) V670M probably damaging Het
Clock A T 5: 76,390,738 (GRCm39) probably null Het
Coro1a C A 7: 126,302,306 (GRCm39) V14L probably damaging Het
Ctcfl C A 2: 172,960,199 (GRCm39) C128F probably damaging Het
Cyb5b A G 8: 107,896,491 (GRCm39) T71A probably damaging Het
Cyp2c40 C G 19: 39,795,658 (GRCm39) V174L possibly damaging Het
D630045J12Rik T A 6: 38,173,562 (GRCm39) Q202L possibly damaging Het
Dgkz T C 2: 91,773,160 (GRCm39) probably benign Het
Dlgap2 T C 8: 14,872,697 (GRCm39) probably null Het
Dnah1 T C 14: 31,026,940 (GRCm39) I695V probably benign Het
Dst T A 1: 34,221,532 (GRCm39) S2445R possibly damaging Het
Elob T C 17: 24,043,950 (GRCm39) D83G probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Etfdh T C 3: 79,530,886 (GRCm39) Y45C probably damaging Het
Exph5 A G 9: 53,287,073 (GRCm39) I1385V probably benign Het
Fat3 A T 9: 15,908,138 (GRCm39) D2621E probably damaging Het
Fbxl6 G T 15: 76,422,669 (GRCm39) A83D probably benign Het
Fmo2 A G 1: 162,716,318 (GRCm39) Y90H probably damaging Het
Fzd4 T A 7: 89,056,761 (GRCm39) Y269* probably null Het
Grik5 T A 7: 24,757,951 (GRCm39) I377F probably damaging Het
Havcr2 C A 11: 46,349,889 (GRCm39) P137Q probably damaging Het
Hectd4 A G 5: 121,392,405 (GRCm39) N223S possibly damaging Het
Hmcn2 A G 2: 31,347,185 (GRCm39) S4792G probably benign Het
Hps3 T G 3: 20,084,616 (GRCm39) I191L probably benign Het
Ica1l T A 1: 60,049,369 (GRCm39) K195* probably null Het
Idh2 TCCCAGGGCC TCC 7: 79,748,079 (GRCm39) probably null Het
Ift140 A G 17: 25,311,315 (GRCm39) D1170G probably benign Het
Igflr1 T C 7: 30,266,776 (GRCm39) F208S possibly damaging Het
Kcnma1 T C 14: 23,580,310 (GRCm39) T313A probably benign Het
Krt6a T A 15: 101,598,994 (GRCm39) I524F unknown Het
Lce1d G T 3: 92,593,148 (GRCm39) H88Q unknown Het
Lrmda A G 14: 22,878,770 (GRCm39) E177G probably benign Het
Lrrn3 T A 12: 41,502,712 (GRCm39) N535I possibly damaging Het
Map2k4 T A 11: 65,666,583 (GRCm39) I40L unknown Het
Map7d1 A G 4: 126,130,429 (GRCm39) L459P probably damaging Het
Mipol1 A T 12: 57,352,859 (GRCm39) N66I possibly damaging Het
Mycn A C 12: 12,990,292 (GRCm39) F35V probably benign Het
Mzt2 A C 16: 15,680,669 (GRCm39) M40R possibly damaging Het
N4bp2 T G 5: 65,948,458 (GRCm39) L363V probably damaging Het
Nfat5 T A 8: 108,097,221 (GRCm39) M1532K probably benign Het
Notch1 G A 2: 26,350,177 (GRCm39) T2321M probably benign Het
Nr1h4 T C 10: 89,334,123 (GRCm39) D89G probably benign Het
Nsun4 G A 4: 115,908,691 (GRCm39) T623I possibly damaging Het
Nup155 T C 15: 8,184,531 (GRCm39) S1309P probably benign Het
Or4e1 T C 14: 52,700,851 (GRCm39) N205S probably damaging Het
Or51f5 T C 7: 102,430,889 (GRCm39) S69P probably damaging Het
Or8h10 T C 2: 86,809,122 (GRCm39) Y6C probably benign Het
Pcsk5 A G 19: 17,814,336 (GRCm39) F61L probably benign Het
Phrf1 A T 7: 140,811,138 (GRCm39) probably null Het
Pkd1 G A 17: 24,792,605 (GRCm39) E1431K probably benign Het
Pkd2 T A 5: 104,628,219 (GRCm39) I431N probably damaging Het
Plcb2 A G 2: 118,546,124 (GRCm39) L557P probably damaging Het
Poteg A G 8: 27,984,988 (GRCm39) N449S probably benign Het
Ppargc1b C A 18: 61,445,281 (GRCm39) G192W probably damaging Het
Rab13 T C 3: 90,132,206 (GRCm39) S178P probably benign Het
Ralgds A G 2: 28,437,607 (GRCm39) D571G probably damaging Het
Ror2 A G 13: 53,264,849 (GRCm39) S748P probably benign Het
Sart1 A T 19: 5,434,905 (GRCm39) L167Q probably damaging Het
Septin12 A G 16: 4,810,055 (GRCm39) V160A possibly damaging Het
Sgo1 T C 17: 53,986,295 (GRCm39) S299G probably benign Het
Shoc1 T C 4: 59,076,140 (GRCm39) N601S possibly damaging Het
Slc35b4 T A 6: 34,140,296 (GRCm39) D152V probably benign Het
Spata31h1 T C 10: 82,120,449 (GRCm39) Y4187C probably damaging Het
Specc1 T A 11: 62,019,235 (GRCm39) probably null Het
Synj1 G A 16: 90,737,371 (GRCm39) T1308I probably benign Het
Thap12 T G 7: 98,359,438 (GRCm39) L106V probably damaging Het
Togaram1 T C 12: 65,057,916 (GRCm39) M1501T possibly damaging Het
Top2a G T 11: 98,891,663 (GRCm39) N1153K probably benign Het
Trpm5 A G 7: 142,634,723 (GRCm39) L658P probably damaging Het
Ttc21b G A 2: 66,047,548 (GRCm39) A849V possibly damaging Het
Vcf1 C T 11: 113,554,215 (GRCm39) G160D probably damaging Het
Vmn1r80 A T 7: 11,927,750 (GRCm39) I287F probably damaging Het
Vmn1r87 T C 7: 12,865,745 (GRCm39) S181G probably damaging Het
Vmn2r71 A T 7: 85,273,115 (GRCm39) H643L probably benign Het
Washc5 G A 15: 59,238,041 (GRCm39) R228C probably damaging Het
Wdr72 T C 9: 74,117,408 (GRCm39) S719P probably damaging Het
Xrcc3 G T 12: 111,774,336 (GRCm39) D164E probably benign Het
Zc2hc1b G A 10: 13,044,529 (GRCm39) R45C probably damaging Het
Zfp335 A G 2: 164,737,912 (GRCm39) Y900H probably damaging Het
Zfp512b G A 2: 181,228,875 (GRCm39) R697C probably damaging Het
Zfp60 T C 7: 27,448,561 (GRCm39) Y410H probably damaging Het
Zfp60 T A 7: 27,448,696 (GRCm39) C455S probably damaging Het
Zfp605 C T 5: 110,275,157 (GRCm39) Q92* probably null Het
Zfp64 C T 2: 168,767,585 (GRCm39) D676N 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
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
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'- ACACCATGTTTAGCAGATGTTG -3'
(R):5'- AAAGTGTAGCCCCTGCATTAGG -3'

Sequencing Primer
(F):5'- TTTAGCAGATGTTGTAATGAGAGCAG -3'
(R):5'- TGTAGCTCAAATCACTCAACTAGGAG -3'
Posted On 2019-10-17