Incidental Mutation 'IGL02370:Elp4'
ID290886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elp4
Ensembl Gene ENSMUSG00000027167
Gene Nameelongator acetyltransferase complex subunit 4
SynonymsA330107A17Rik, Paxneb
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.967) question?
Stock #IGL02370
Quality Score
Status
Chromosome2
Chromosomal Location105701027-105904564 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105794592 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 201 (S201P)
Ref Sequence ENSEMBL: ENSMUSP00000028588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028588] [ENSMUST00000122965]
Predicted Effect probably damaging
Transcript: ENSMUST00000028588
AA Change: S201P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028588
Gene: ENSMUSG00000027167
AA Change: S201P

DomainStartEndE-ValueType
Pfam:PAXNEB 2 270 9.1e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122965
AA Change: S319P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116575
Gene: ENSMUSG00000027167
AA Change: S319P

DomainStartEndE-ValueType
Pfam:PAXNEB 28 422 4e-123 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152272
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik A G 9: 103,263,074 V482A probably benign Het
4732471J01Rik T C 7: 25,384,888 probably benign Het
Abra T C 15: 41,869,244 D142G probably damaging Het
Aldh9a1 A G 1: 167,356,532 N199D probably damaging Het
Baz2b A T 2: 59,923,589 I1130N possibly damaging Het
Cacna1s A G 1: 136,085,347 I312V probably damaging Het
Chrd A G 16: 20,735,791 M367V possibly damaging Het
Clec12a C T 6: 129,354,576 A160V possibly damaging Het
Cnnm1 T C 19: 43,471,950 probably null Het
Cntnap3 A T 13: 64,751,751 M976K probably benign Het
Cyp27b1 T C 10: 127,050,674 probably benign Het
Ddx54 T A 5: 120,619,787 L226Q probably damaging Het
Dnah7a A G 1: 53,635,397 V407A probably benign Het
Exoc3 A T 13: 74,192,761 V308D probably benign Het
Exosc3 A G 4: 45,319,671 I117T probably damaging Het
Gbx2 A T 1: 89,929,149 probably benign Het
Gm4858 A G 3: 93,074,047 D124G possibly damaging Het
Hnf1b A C 11: 83,882,733 T253P possibly damaging Het
Itih5 A T 2: 10,186,975 Y107F probably benign Het
Kcnb2 A G 1: 15,710,935 N677S probably benign Het
Knstrn T A 2: 118,823,788 probably null Het
Lin9 G T 1: 180,688,018 C451F probably damaging Het
Mast1 A C 8: 84,912,254 V1482G probably benign Het
Mroh4 A G 15: 74,625,541 F144L probably benign Het
Myrf T C 19: 10,214,140 N945D probably benign Het
Nfrkb G A 9: 31,389,012 G33D probably benign Het
Olfr1036 C A 2: 86,074,788 T16K probably damaging Het
P2ry13 T C 3: 59,209,465 I297M probably damaging Het
Pcdhb21 T A 18: 37,514,592 probably null Het
Pitpnm3 A G 11: 72,051,858 Y868H probably benign Het
Pou2f3 G A 9: 43,137,348 R266W probably damaging Het
Rcn3 T C 7: 45,083,333 S304G probably benign Het
Rinl A G 7: 28,794,972 probably null Het
Sema5a T C 15: 32,682,299 probably benign Het
Sipa1l2 A G 8: 125,480,269 L565P probably damaging Het
Slc5a9 A G 4: 111,877,629 I656T probably benign Het
Sptan1 A G 2: 30,030,740 K2404R probably damaging Het
Tarsl2 C A 7: 65,661,165 P314Q probably benign Het
Tbc1d14 C T 5: 36,495,218 V627I possibly damaging Het
Tfcp2 A T 15: 100,512,304 V394D probably damaging Het
Trerf1 C T 17: 47,314,461 noncoding transcript Het
Ucp2 A G 7: 100,498,384 N190S probably damaging Het
Vmn2r124 A G 17: 18,064,191 Q498R probably benign Het
Yeats2 T A 16: 20,150,471 I4N probably damaging Het
Zfp574 T G 7: 25,079,589 I12S possibly damaging Het
Zscan29 T A 2: 121,163,833 E522V probably benign Het
Other mutations in Elp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00648:Elp4 APN 2 105842366 splice site probably benign
IGL01407:Elp4 APN 2 105792308 missense probably damaging 1.00
IGL02173:Elp4 APN 2 105702743 missense probably damaging 0.96
R0125:Elp4 UTSW 2 105792214 critical splice donor site probably null
R0685:Elp4 UTSW 2 105792277 missense possibly damaging 0.94
R0893:Elp4 UTSW 2 105896945 splice site probably benign
R1117:Elp4 UTSW 2 105842311 missense probably benign 0.00
R1496:Elp4 UTSW 2 105832161 missense probably benign 0.31
R1542:Elp4 UTSW 2 105794609 missense probably benign 0.02
R1911:Elp4 UTSW 2 105702743 missense probably damaging 0.96
R2311:Elp4 UTSW 2 105842332 missense probably benign 0.00
R2997:Elp4 UTSW 2 105814316 missense possibly damaging 0.82
R3079:Elp4 UTSW 2 105809445 missense possibly damaging 0.95
R3683:Elp4 UTSW 2 105702761 missense possibly damaging 0.75
R4747:Elp4 UTSW 2 105794607 missense probably damaging 1.00
R4799:Elp4 UTSW 2 105809267 missense probably damaging 0.99
R5438:Elp4 UTSW 2 105904403 missense probably damaging 1.00
R5635:Elp4 UTSW 2 105814264 critical splice donor site probably null
R6414:Elp4 UTSW 2 105904443 missense possibly damaging 0.94
R7228:Elp4 UTSW 2 105792302 missense probably damaging 1.00
R7381:Elp4 UTSW 2 105792307 missense not run
R7560:Elp4 UTSW 2 105794588 missense probably damaging 1.00
R7671:Elp4 UTSW 2 105904481 missense probably damaging 0.99
Posted On2015-04-16