Mutagenetix > Incidental Mutation

Incidental Mutation 'R1496:Elp4'

168842

Institutional Source

Beutler Lab

Gene Symbol

Elp4

Ensembl Gene

ENSMUSG00000027167

Gene Name

elongator acetyltransferase complex subunit 4

Synonyms

A330107A17Rik, Paxneb

MMRRC Submission

039547-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R1496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105531372-105734909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105662506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 88 (H88R)

Ref Sequence

ENSEMBL: ENSMUSP00000028588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028588] [ENSMUST00000122965]

AlphaFold

Q9ER73

Predicted Effect

probably benign
Transcript: ENSMUST00000028588
AA Change: H88R

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028588
Gene: ENSMUSG00000027167
AA Change: H88R

Domain	Start	End	E-Value	Type
Pfam:PAXNEB	2	270	9.1e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122965
AA Change: H206R

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116575
Gene: ENSMUSG00000027167
AA Change: H206R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

98% (94/96)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,221,552 (GRCm39)		probably benign	Het
4933411K16Rik	T	C	19: 42,041,489 (GRCm39)	Y207H	probably damaging	Het
Abcc1	T	A	16: 14,266,298 (GRCm39)	L832Q	probably damaging	Het
Acan	T	A	7: 78,750,552 (GRCm39)	H1774Q	probably benign	Het
Adss2	T	C	1: 177,599,760 (GRCm39)	T275A	probably benign	Het
Ano5	G	A	7: 51,233,523 (GRCm39)	R595H	probably damaging	Het
Araf	G	T	X: 20,725,943 (GRCm39)	R522L	probably damaging	Het
Arhgef28	C	T	13: 98,102,054 (GRCm39)	V807I	possibly damaging	Het
Bin1	T	C	18: 32,545,757 (GRCm39)	I103T	probably damaging	Het
C4b	C	T	17: 34,958,995 (GRCm39)	R478Q	probably benign	Het
Cacna1b	G	A	2: 24,568,047 (GRCm39)	P1015S	probably benign	Het
Capn1	A	G	19: 6,057,528 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,374,828 (GRCm39)	Q1358R	probably damaging	Het
Cfap126	T	C	1: 170,953,386 (GRCm39)		probably benign	Het
Chn1	T	C	2: 73,509,951 (GRCm39)		probably benign	Het
Cldn8	T	C	16: 88,359,289 (GRCm39)	E212G	probably benign	Het
Cpb1	T	C	3: 20,317,696 (GRCm39)	N249S	probably damaging	Het
Cxcr6	A	T	9: 123,639,412 (GRCm39)	I138F	probably benign	Het
Dab2ip	G	A	2: 35,608,803 (GRCm39)	R579H	probably damaging	Het
Dcaf8	T	C	1: 172,021,422 (GRCm39)	M538T	probably benign	Het
Dhrs4	T	G	14: 55,725,107 (GRCm39)	L201V	probably damaging	Het
Dnah12	C	T	14: 26,431,403 (GRCm39)	A407V	probably benign	Het
Elavl3	T	A	9: 21,937,461 (GRCm39)		probably benign	Het
Ercc3	T	C	18: 32,394,350 (GRCm39)		probably benign	Het
Eri1	A	G	8: 35,936,335 (GRCm39)	S329P	possibly damaging	Het
Erich2	A	T	2: 70,343,117 (GRCm39)		probably benign	Het
Esyt1	A	G	10: 128,348,297 (GRCm39)	S864P	possibly damaging	Het
Fam170b	A	G	14: 32,557,588 (GRCm39)	E141G	probably damaging	Het
Fat1	A	G	8: 45,486,427 (GRCm39)	Y3304C	probably damaging	Het
Fbn1	T	C	2: 125,151,415 (GRCm39)	T2531A	probably benign	Het
Fgfr3	T	C	5: 33,887,094 (GRCm39)	V166A	probably damaging	Het
Glt8d2	T	C	10: 82,495,372 (GRCm39)	D194G	probably damaging	Het
Gpr89	A	G	3: 96,812,526 (GRCm39)	I5T	probably benign	Het
Gpx6	A	T	13: 21,503,090 (GRCm39)	H168L	probably benign	Het
Gusb	T	C	5: 130,027,385 (GRCm39)	T307A	probably benign	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Ifngr1	A	G	10: 19,477,193 (GRCm39)	D118G	probably benign	Het
Ipcef1	A	T	10: 6,885,173 (GRCm39)		probably null	Het
Kbtbd3	A	T	9: 4,330,276 (GRCm39)	T217S	probably benign	Het
Kmt5a	GAA	GA	5: 124,597,948 (GRCm39)		probably null	Het
Lrp1	T	C	10: 127,374,880 (GRCm39)	D4526G	probably damaging	Het
Lrp1b	A	T	2: 42,213,674 (GRCm39)	V46D	probably damaging	Het
Lsm8	T	A	6: 18,849,658 (GRCm39)	M22K	probably benign	Het
Map1lc3b	C	T	8: 122,323,339 (GRCm39)	R70C	possibly damaging	Het
Meiob	T	A	17: 25,032,026 (GRCm39)	S14T	possibly damaging	Het
Mkx	G	T	18: 6,992,330 (GRCm39)	Y183*	probably null	Het
Mrs2	T	C	13: 25,189,017 (GRCm39)	Y99C	probably benign	Het
Mycbpap	T	C	11: 94,396,387 (GRCm39)	K151R	probably benign	Het
Neb	T	G	2: 52,218,746 (GRCm39)	Q88P	probably damaging	Het
Noc4l	T	A	5: 110,797,944 (GRCm39)	H319L	probably damaging	Het
Nt5c2	G	A	19: 46,893,417 (GRCm39)	T122I	probably damaging	Het
Nuggc	A	T	14: 65,861,582 (GRCm39)	N476I	probably damaging	Het
Obscn	T	A	11: 58,921,862 (GRCm39)	H5978L	probably benign	Het
Oc90	G	T	15: 65,748,370 (GRCm39)	A412D	probably damaging	Het
Or2l13b	T	A	16: 19,349,133 (GRCm39)	D179V	possibly damaging	Het
Or3a4	A	G	11: 73,944,650 (GRCm39)	*312Q	probably null	Het
Or4a76	A	G	2: 89,460,358 (GRCm39)	S295P	possibly damaging	Het
Or5w18	T	G	2: 87,633,212 (GRCm39)	S160A	probably benign	Het
Or7a42	T	A	10: 78,791,682 (GRCm39)	S214R	probably benign	Het
Or8k33	A	T	2: 86,384,096 (GRCm39)	V124E	probably damaging	Het
Pdzrn3	A	T	6: 101,127,930 (GRCm39)	V912E	probably benign	Het
Phactr1	T	A	13: 43,248,466 (GRCm39)	Y387N	probably damaging	Het
Picalm	T	A	7: 89,779,859 (GRCm39)	C27S	probably benign	Het
Pkd1l1	T	A	11: 8,891,077 (GRCm39)	I314F	possibly damaging	Het
Pold2	T	C	11: 5,824,175 (GRCm39)	E210G	possibly damaging	Het
Ptprz1	C	T	6: 23,049,523 (GRCm39)		probably benign	Het
Rac1	G	T	5: 143,493,093 (GRCm39)	A165E	probably damaging	Het
Rpap3	G	T	15: 97,584,364 (GRCm39)	T360K	possibly damaging	Het
Scn9a	G	A	2: 66,357,232 (GRCm39)	T1012I	probably benign	Het
Sdad1	A	G	5: 92,457,682 (GRCm39)	I20T	possibly damaging	Het
Setbp1	T	G	18: 78,903,127 (GRCm39)	K180T	probably damaging	Het
Sgpl1	T	C	10: 60,938,368 (GRCm39)	N475S	probably damaging	Het
Shroom3	T	C	5: 93,090,693 (GRCm39)	S1148P	possibly damaging	Het
Sin3a	T	A	9: 57,026,442 (GRCm39)	H1119Q	possibly damaging	Het
Slc26a7	T	A	4: 14,506,489 (GRCm39)	Y620F	probably benign	Het
Slc4a1	T	C	11: 102,251,997 (GRCm39)	I36V	probably benign	Het
Smarca2	C	G	19: 26,608,501 (GRCm39)	P263A	possibly damaging	Het
Sp100	T	C	1: 85,591,242 (GRCm39)		probably benign	Het
Spag6l	A	G	16: 16,598,478 (GRCm39)		probably benign	Het
Sptbn1	T	C	11: 30,071,498 (GRCm39)	N1491S	probably damaging	Het
Tbl1xr1	T	G	3: 22,245,115 (GRCm39)	V155G	possibly damaging	Het
Tmc1	A	G	19: 20,845,719 (GRCm39)	I168T	probably damaging	Het
Tmem87b	G	A	2: 128,668,313 (GRCm39)		probably null	Het
Tnfrsf9	T	A	4: 151,017,561 (GRCm39)		probably null	Het
Tnni3k	T	C	3: 154,645,295 (GRCm39)	D530G	probably damaging	Het
Vmn1r209	G	A	13: 22,989,934 (GRCm39)	S252F	probably damaging	Het
Zbtb3	A	T	19: 8,780,714 (GRCm39)	N109I	probably damaging	Het
Zdhhc17	T	G	10: 110,782,071 (GRCm39)	H541P	probably damaging	Het
Zfp84	A	G	7: 29,476,039 (GRCm39)	I244V	possibly damaging	Het
Zyx	A	G	6: 42,333,246 (GRCm39)	Y393C	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
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

Predicted Primers

PCR Primer
(F):5'- GCAGCAGTGATTTATACATTTCCCCGA -3'
(R):5'- ATGCCATTACTTTGCTTGATGTAGGACA -3'

Sequencing Primer
(F):5'- TGAAACTATCTTGGTATCCAGGC -3'
(R):5'- AACCTGCATGGTTTGTCTGC -3'

Posted On

2014-04-13