Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02370:Elp4'

290886

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Elp4

Ensembl Gene

ENSMUSG00000027167

Gene Name

elongator acetyltransferase complex subunit 4

Synonyms

A330107A17Rik, Paxneb

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL02370

Quality Score

Status

Chromosome

Chromosomal Location

105531372-105734909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105624937 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q9ER73

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732471J01Rik	T	C	7: 25,084,313 (GRCm39)		probably benign	Het
Abra	T	C	15: 41,732,640 (GRCm39)	D142G	probably damaging	Het
Aldh9a1	A	G	1: 167,184,101 (GRCm39)	N199D	probably damaging	Het
Baz2b	A	T	2: 59,753,933 (GRCm39)	I1130N	possibly damaging	Het
Cacna1s	A	G	1: 136,013,085 (GRCm39)	I312V	probably damaging	Het
Chrd	A	G	16: 20,554,541 (GRCm39)	M367V	possibly damaging	Het
Clec12a	C	T	6: 129,331,539 (GRCm39)	A160V	possibly damaging	Het
Cnnm1	T	C	19: 43,460,389 (GRCm39)		probably null	Het
Cntnap3	A	T	13: 64,899,565 (GRCm39)	M976K	probably benign	Het
Cyp27b1	T	C	10: 126,886,543 (GRCm39)		probably benign	Het
Ddx54	T	A	5: 120,757,852 (GRCm39)	L226Q	probably damaging	Het
Dnah7a	A	G	1: 53,674,556 (GRCm39)	V407A	probably benign	Het
Exoc3	A	T	13: 74,340,880 (GRCm39)	V308D	probably benign	Het
Exosc3	A	G	4: 45,319,671 (GRCm39)	I117T	probably damaging	Het
Gbx2	A	T	1: 89,856,871 (GRCm39)		probably benign	Het
Hnf1b	A	C	11: 83,773,559 (GRCm39)	T253P	possibly damaging	Het
Inhca	A	G	9: 103,140,273 (GRCm39)	V482A	probably benign	Het
Itih5	A	T	2: 10,191,786 (GRCm39)	Y107F	probably benign	Het
Kcnb2	A	G	1: 15,781,159 (GRCm39)	N677S	probably benign	Het
Knstrn	T	A	2: 118,654,269 (GRCm39)		probably null	Het
Lin9	G	T	1: 180,515,583 (GRCm39)	C451F	probably damaging	Het
Mast1	A	C	8: 85,638,883 (GRCm39)	V1482G	probably benign	Het
Mroh4	A	G	15: 74,497,390 (GRCm39)	F144L	probably benign	Het
Myrf	T	C	19: 10,191,504 (GRCm39)	N945D	probably benign	Het
Nfrkb	G	A	9: 31,300,308 (GRCm39)	G33D	probably benign	Het
Or5m9b	C	A	2: 85,905,132 (GRCm39)	T16K	probably damaging	Het
P2ry13	T	C	3: 59,116,886 (GRCm39)	I297M	probably damaging	Het
Pcdhb21	T	A	18: 37,647,645 (GRCm39)		probably null	Het
Pitpnm3	A	G	11: 71,942,684 (GRCm39)	Y868H	probably benign	Het
Pou2f3	G	A	9: 43,048,643 (GRCm39)	R266W	probably damaging	Het
Rcn3	T	C	7: 44,732,757 (GRCm39)	S304G	probably benign	Het
Rinl	A	G	7: 28,494,397 (GRCm39)		probably null	Het
Sema5a	T	C	15: 32,682,445 (GRCm39)		probably benign	Het
Sipa1l2	A	G	8: 126,207,008 (GRCm39)	L565P	probably damaging	Het
Slc5a9	A	G	4: 111,734,826 (GRCm39)	I656T	probably benign	Het
Sptan1	A	G	2: 29,920,752 (GRCm39)	K2404R	probably damaging	Het
Tars3	C	A	7: 65,310,913 (GRCm39)	P314Q	probably benign	Het
Tbc1d14	C	T	5: 36,652,562 (GRCm39)	V627I	possibly damaging	Het
Tdpoz8	A	G	3: 92,981,354 (GRCm39)	D124G	possibly damaging	Het
Tfcp2	A	T	15: 100,410,185 (GRCm39)	V394D	probably damaging	Het
Trerf1	C	T	17: 47,625,387 (GRCm39)		noncoding transcript	Het
Ucp2	A	G	7: 100,147,591 (GRCm39)	N190S	probably damaging	Het
Vmn2r124	A	G	17: 18,284,453 (GRCm39)	Q498R	probably benign	Het
Yeats2	T	A	16: 19,969,221 (GRCm39)	I4N	probably damaging	Het
Zfp574	T	G	7: 24,779,014 (GRCm39)	I12S	possibly damaging	Het
Zscan29	T	A	2: 120,994,314 (GRCm39)	E522V	probably benign	Het

Other mutations in Elp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16