Mutagenetix > Incidental Mutation

Incidental Mutation 'R3683:Elp4'

269410

Institutional Source

Beutler Lab

Gene Symbol

Elp4

Ensembl Gene

ENSMUSG00000027167

Gene Name

elongator acetyltransferase complex subunit 4

Synonyms

A330107A17Rik, Paxneb

MMRRC Submission

040681-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R3683 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105531372-105734909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105533106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 413 (M413K)

Ref Sequence

ENSEMBL: ENSMUSP00000116575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122965]

AlphaFold

Q9ER73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122965
AA Change: M413K

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116575
Gene: ENSMUSG00000027167
AA Change: M413K

Domain	Start	End	E-Value	Type
Pfam:PAXNEB	28	422	4e-123	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	T	C	X: 80,463,841 (GRCm39)	D622G	possibly damaging	Het
Acad11	T	C	9: 103,992,543 (GRCm39)	I495T	probably damaging	Het
Acat1	C	T	9: 53,498,765 (GRCm39)	A307T	probably damaging	Het
Ahdc1	T	C	4: 132,793,013 (GRCm39)	L1418P	possibly damaging	Het
Bmp2	T	A	2: 133,396,392 (GRCm39)	V16D	probably benign	Het
Cables2	G	A	2: 179,906,263 (GRCm39)	R121*	probably null	Het
Calb2	A	G	8: 110,883,620 (GRCm39)	Y35H	probably benign	Het
Cdon	A	G	9: 35,400,328 (GRCm39)	E1014G	possibly damaging	Het
Clcn7	T	C	17: 25,369,567 (GRCm39)	L301P	possibly damaging	Het
Corin	T	C	5: 72,488,198 (GRCm39)	D610G	probably damaging	Het
Csrnp2	A	T	15: 100,379,879 (GRCm39)	S471T	probably benign	Het
Dnah7a	C	A	1: 53,483,675 (GRCm39)	M3367I	probably benign	Het
Fat1	A	G	8: 45,470,975 (GRCm39)	D1593G	probably benign	Het
Fbxw24	G	A	9: 109,437,110 (GRCm39)	P259L	possibly damaging	Het
Ggta1	T	A	2: 35,298,000 (GRCm39)	T162S	probably benign	Het
Gldn	G	A	9: 54,245,624 (GRCm39)	E392K	possibly damaging	Het
Klra9	T	C	6: 130,168,260 (GRCm39)	N2S	probably benign	Het
Lama1	A	G	17: 68,075,328 (GRCm39)	D1015G	probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Nrxn1	T	C	17: 90,930,880 (GRCm39)	D779G	probably damaging	Het
Or2d3c	G	A	7: 106,526,301 (GRCm39)	R122*	probably null	Het
Or4a73	C	A	2: 89,421,099 (GRCm39)	R120L	probably damaging	Het
Or4c118	A	T	2: 88,975,364 (GRCm39)	M1K	probably null	Het
Or5d37	T	A	2: 87,923,603 (GRCm39)	I226F	probably damaging	Het
Osmr	A	C	15: 6,866,534 (GRCm39)	V380G	possibly damaging	Het
Phf21b	A	G	15: 84,682,891 (GRCm39)	I222T	probably damaging	Het
Ptprq	G	T	10: 107,544,489 (GRCm39)	T347K	probably benign	Het
Sema6d	G	T	2: 124,496,146 (GRCm39)	L63F	possibly damaging	Het
Serpinb9b	C	T	13: 33,213,581 (GRCm39)	A46V	probably damaging	Het
Sf3b3	A	G	8: 111,540,253 (GRCm39)		probably null	Het
Smpd1	T	A	7: 105,204,609 (GRCm39)	C163S	probably damaging	Het
Stat4	C	T	1: 52,052,981 (GRCm39)	T54I	possibly damaging	Het
Tacc2	A	G	7: 130,226,800 (GRCm39)	S1162G	probably benign	Het
Tbc1d20	C	T	2: 152,153,737 (GRCm39)	T354I	probably benign	Het
Tbc1d31	T	C	15: 57,815,210 (GRCm39)		probably null	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Unc79	T	A	12: 103,041,062 (GRCm39)	N698K	probably benign	Het
Utrn	A	G	10: 12,542,579 (GRCm39)	M1802T	probably benign	Het
Vmn1r8	A	C	6: 57,013,260 (GRCm39)	T104P	probably damaging	Het
Vmn2r13	C	A	5: 109,304,721 (GRCm39)	R570I	probably damaging	Het
Zfand6	G	A	7: 84,283,570 (GRCm39)	P11S	probably damaging	Het
Zfp1005	A	G	2: 150,109,976 (GRCm39)	K222R	probably benign	Het
Zmpste24	A	G	4: 120,918,288 (GRCm39)	F445L	probably damaging	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
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
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'- AAACTTAAGGATGGTGGCTCC -3'
(R):5'- CCGTCGGAGGAATTGTTTTAGC -3'

Sequencing Primer
(F):5'- GGTGGCTCCACTTTGTGACC -3'
(R):5'- TGCAAGACTAAATGCTGATCAAC -3'

Posted On

2015-02-19