Mutagenetix > Incidental Mutation

Incidental Mutation 'R7381:Elp4'

572693

Institutional Source

Beutler Lab

Gene Symbol

Elp4

Ensembl Gene

ENSMUSG00000027167

Gene Name

elongator acetyltransferase complex subunit 4

Synonyms

A330107A17Rik, Paxneb

MMRRC Submission

045463-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7381 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105531372-105734909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105622652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 349 (R349Q)

Ref Sequence

ENSEMBL: ENSMUSP00000116575 (fasta)

Gene Model

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

AlphaFold

Q9ER73

Predicted Effect

not run
Transcript: ENSMUST00000122965
AA Change: R349Q

SMART Domains

Protein: ENSMUSP00000116575
Gene: ENSMUSG00000027167
AA Change: R349Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (88/90)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	T	C	9: 53,323,122 (GRCm39)	Y53H	probably damaging	Het
Abca8a	A	T	11: 109,920,913 (GRCm39)		probably null	Het
Acads	C	A	5: 115,249,057 (GRCm39)	Q365H	probably damaging	Het
Acsm3	A	G	7: 119,380,049 (GRCm39)	D462G	probably damaging	Het
Adam39	T	A	8: 41,279,000 (GRCm39)	C464S	probably damaging	Het
Adgra3	A	G	5: 50,216,116 (GRCm39)	M1T	probably null	Het
AI182371	T	C	2: 34,975,371 (GRCm39)	Y276C	probably damaging	Het
Ank2	T	A	3: 126,730,277 (GRCm39)	H719L	possibly damaging	Het
Ano7	G	A	1: 93,323,057 (GRCm39)	V466I	probably benign	Het
Art5	A	G	7: 101,747,377 (GRCm39)	L134P	probably damaging	Het
Atcay	A	G	10: 81,046,431 (GRCm39)	Y298H	possibly damaging	Het
Atp1a4	A	T	1: 172,067,682 (GRCm39)	F527Y	possibly damaging	Het
Bpifb2	A	T	2: 153,734,268 (GRCm39)	M428L	probably benign	Het
Brinp2	A	C	1: 158,073,913 (GRCm39)	V736G	probably benign	Het
Cdc5l	C	T	17: 45,722,849 (GRCm39)	A437T	probably benign	Het
Cdx2	G	A	5: 147,243,440 (GRCm39)	P118L	possibly damaging	Het
Chpt1	G	A	10: 88,311,193 (GRCm39)		probably null	Het
Creb3l2	T	A	6: 37,312,783 (GRCm39)	E417V	probably damaging	Het
Csnk2a1	A	G	2: 152,100,614 (GRCm39)	T129A	probably benign	Het
Dennd6b	A	T	15: 89,070,376 (GRCm39)	L431Q	possibly damaging	Het
Dgkz	C	T	2: 91,775,180 (GRCm39)	A260T	probably benign	Het
Dhx34	T	A	7: 15,949,373 (GRCm39)	T352S	probably benign	Het
Emsy	A	C	7: 98,240,010 (GRCm39)	F1228V	probably damaging	Het
Eps8l1	T	A	7: 4,473,437 (GRCm39)		probably null	Het
Faf1	T	A	4: 109,719,134 (GRCm39)	D413E	probably damaging	Het
Fat3	T	C	9: 16,158,283 (GRCm39)	Y1109C	probably damaging	Het
Fbp1	T	C	13: 63,012,867 (GRCm39)	K314E	probably benign	Het
Fbxl20	A	G	11: 97,981,614 (GRCm39)	V358A	probably benign	Het
Fbxo34	C	G	14: 47,767,992 (GRCm39)	R502G	probably benign	Het
Fxr2	G	A	11: 69,532,875 (GRCm39)	C151Y	possibly damaging	Het
Garin5b	C	A	7: 4,760,681 (GRCm39)	R677L		Het
Gja8	T	C	3: 96,827,338 (GRCm39)	D108G	probably benign	Het
Gm10722	C	A	9: 3,001,235 (GRCm39)	L104I	probably benign	Het
Grsf1	A	G	5: 88,813,666 (GRCm39)	V361A	probably benign	Het
Gsap	T	A	5: 21,431,785 (GRCm39)	I228N	probably damaging	Het
Hagh	T	C	17: 25,075,686 (GRCm39)	I131T	probably damaging	Het
Heca	A	T	10: 17,791,272 (GRCm39)	Y261*	probably null	Het
Hipk3	A	G	2: 104,269,696 (GRCm39)	F498L	probably damaging	Het
Hps4	T	A	5: 112,523,324 (GRCm39)	I614N	possibly damaging	Het
Icam1	T	C	9: 20,938,886 (GRCm39)	S450P	probably benign	Het
Il22	G	A	10: 118,041,069 (GRCm39)	M58I	possibly damaging	Het
Khdrbs2	T	A	1: 32,372,883 (GRCm39)	S186T	not run	Het
Kif16b	A	G	2: 142,699,343 (GRCm39)	F79S	probably damaging	Het
Kntc1	C	A	5: 123,948,971 (GRCm39)	F1905L	probably benign	Het
Liat1	A	T	11: 75,893,833 (GRCm39)	D70V	probably damaging	Het
Lrp1b	C	T	2: 40,692,929 (GRCm39)	G3423D		Het
Lrp5	G	T	19: 3,643,588 (GRCm39)	Q1346K	probably benign	Het
Map3k21	A	C	8: 126,671,717 (GRCm39)	T1002P	possibly damaging	Het
Mdga2	G	T	12: 66,615,670 (GRCm39)	R646S	probably benign	Het
Mex3b	G	T	7: 82,518,073 (GRCm39)	M129I	possibly damaging	Het
Mfsd10	G	T	5: 34,793,770 (GRCm39)	N85K	probably damaging	Het
Mios	A	G	6: 8,216,064 (GRCm39)	D420G	probably damaging	Het
Mogs	C	A	6: 83,092,613 (GRCm39)	P18T	unknown	Het
Mrgpre	A	G	7: 143,335,150 (GRCm39)	C118R	probably damaging	Het
Muc4	A	T	16: 32,601,285 (GRCm39)	H1321L		Het
Nkapl	T	C	13: 21,651,759 (GRCm39)	K285E	probably damaging	Het
Nphp4	C	T	4: 152,583,460 (GRCm39)	P200S	possibly damaging	Het
Piezo1	A	G	8: 123,228,397 (GRCm39)	F297L		Het
Pkhd1	T	G	1: 20,271,197 (GRCm39)	S3119R	probably damaging	Het
Pla2g15	G	A	8: 106,889,576 (GRCm39)	V283I	probably benign	Het
Ppp1r13l	T	A	7: 19,102,786 (GRCm39)		probably null	Het
Prex1	A	G	2: 166,429,047 (GRCm39)	Y849H	probably damaging	Het
Psg27	C	A	7: 18,301,008 (GRCm39)	W15L	probably benign	Het
Ptar1	A	T	19: 23,686,334 (GRCm39)		probably null	Het
Ptpn6	G	A	6: 124,705,135 (GRCm39)	R264C	probably damaging	Het
Ptprb	A	G	10: 116,177,038 (GRCm39)	I988V	probably benign	Het
Ptpro	G	A	6: 137,376,559 (GRCm39)	V680I	possibly damaging	Het
Rnf170	C	T	8: 26,613,876 (GRCm39)	P28S	probably benign	Het
Rnpepl1	A	G	1: 92,846,917 (GRCm39)	S580G	possibly damaging	Het
Rtel1	C	T	2: 180,972,608 (GRCm39)	R29*	probably null	Het
Rtkn	T	C	6: 83,128,726 (GRCm39)	L26P	probably damaging	Het
Sdk2	A	C	11: 113,729,315 (GRCm39)	S1087R	probably damaging	Het
Sema7a	C	T	9: 57,860,852 (GRCm39)	P71L	probably benign	Het
Sgpp1	C	T	12: 75,763,038 (GRCm39)	C381Y	probably damaging	Het
Sis	A	T	3: 72,820,625 (GRCm39)		probably null	Het
Slc24a5	A	C	2: 124,910,869 (GRCm39)	D100A	probably benign	Het
Slc25a23	A	T	17: 57,360,587 (GRCm39)	I251K	probably damaging	Het
Slc6a5	T	A	7: 49,579,804 (GRCm39)	L394H	probably damaging	Het
Slc7a4	A	T	16: 17,392,920 (GRCm39)	M293K	probably damaging	Het
Syne2	T	A	12: 75,973,263 (GRCm39)	S1089T	probably benign	Het
Tanc1	A	T	2: 59,615,670 (GRCm39)	T226S	probably damaging	Het
Tdrd6	T	C	17: 43,936,984 (GRCm39)	T1355A	probably benign	Het
Tmem101	A	G	11: 102,044,176 (GRCm39)	M237T	possibly damaging	Het
Ttn	G	A	2: 76,749,359 (GRCm39)	H3897Y	possibly damaging	Het
Tubb4a	C	T	17: 57,387,698 (GRCm39)	V443M	unknown	Het
Ucp2	G	A	7: 100,147,576 (GRCm39)	R185H	possibly damaging	Het
Vmn1r116	G	T	7: 20,606,436 (GRCm39)	E86*	probably null	Het
Vmn2r37	T	C	7: 9,213,032 (GRCm39)	E530G	probably benign	Het
Vwa8	A	G	14: 79,333,125 (GRCm39)	T1293A	probably benign	Het
Zfc3h1	T	A	10: 115,260,535 (GRCm39)	Y1711N	probably benign	Het
Zfp873	A	T	10: 81,896,805 (GRCm39)	E512V	probably damaging	Het
Zfyve16	T	A	13: 92,657,654 (GRCm39)	K752N	probably damaging	Het
Zhx1	T	C	15: 57,916,561 (GRCm39)	N562D	possibly 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
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
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

Posted On

2019-09-13