Mutagenetix > Incidental Mutation

Incidental Mutation 'R7671:Elp4'

592145

Institutional Source

Beutler Lab

Gene Symbol

Elp4

Ensembl Gene

ENSMUSG00000027167

Gene Name

elongator acetyltransferase complex subunit 4

Synonyms

A330107A17Rik, Paxneb

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105531372-105734909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105734826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 3 (A3E)

Ref Sequence

ENSEMBL: ENSMUSP00000116575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037499] [ENSMUST00000122965]

AlphaFold

Q9ER73

Predicted Effect

probably benign
Transcript: ENSMUST00000037499

SMART Domains

Protein: ENSMUSP00000049044
Gene: ENSMUSG00000042670

Domain	Start	End	E-Value	Type
Pfam:Peptidase_S24	36	107	1.8e-16	PFAM
Pfam:Peptidase_S26	95	146	1e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000122965
AA Change: A3E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116575
Gene: ENSMUSG00000027167
AA Change: A3E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	C	A	7: 75,219,648 (GRCm39)	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,394,043 (GRCm39)	K257I	probably damaging	Het
Bicc1	A	G	10: 70,792,997 (GRCm39)	L219P	probably benign	Het
Bltp1	T	C	3: 36,997,380 (GRCm39)	F1146L	probably damaging	Het
Boc	C	T	16: 44,312,212 (GRCm39)	V617M		Het
Ccl8	A	G	11: 82,006,033 (GRCm39)		probably benign	Het
Col18a1	A	G	10: 76,921,217 (GRCm39)	L261P	unknown	Het
Col5a3	T	A	9: 20,686,382 (GRCm39)		probably null	Het
Cryba4	A	C	5: 112,396,039 (GRCm39)		probably null	Het
Csf2rb	A	G	15: 78,223,130 (GRCm39)	Y114C	probably damaging	Het
Ctif	T	C	18: 75,605,087 (GRCm39)	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848 (GRCm39)	F261L	probably damaging	Het
Defb22	A	T	2: 152,327,950 (GRCm39)	N78K	unknown	Het
Dele1	T	A	18: 38,392,978 (GRCm39)	I394N	probably damaging	Het
Efr3a	G	A	15: 65,709,283 (GRCm39)		probably null	Het
Emilin2	A	G	17: 71,580,905 (GRCm39)	V607A	probably benign	Het
Epsti1	A	G	14: 78,141,930 (GRCm39)	Y2C	probably damaging	Het
Fam81b	A	C	13: 76,419,412 (GRCm39)	L46R	probably damaging	Het
Fam81b	G	T	13: 76,419,413 (GRCm39)	L46I	possibly damaging	Het
Fbxo15	T	A	18: 84,982,278 (GRCm39)	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,973,323 (GRCm39)	N77I	probably damaging	Het
Ganab	A	G	19: 8,890,216 (GRCm39)	Y715C	possibly damaging	Het
H2bc27	T	C	11: 58,840,102 (GRCm39)	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,764,627 (GRCm39)	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,516 (GRCm39)	N633S	probably benign	Het
Krt6a	C	A	15: 101,598,978 (GRCm39)	S529I	unknown	Het
Leo1	A	G	9: 75,352,844 (GRCm39)	H129R	probably benign	Het
Lmf1	G	A	17: 25,798,323 (GRCm39)	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,413,665 (GRCm39)	S472P	probably benign	Het
Med27	T	A	2: 29,267,950 (GRCm39)	V33D		Het
Mgat4f	T	C	1: 134,317,800 (GRCm39)	C191R	probably benign	Het
Mup15	C	T	4: 61,356,526 (GRCm39)	E80K	probably benign	Het
Myo18a	G	A	11: 77,750,246 (GRCm39)	R199H		Het
Nebl	T	A	2: 17,395,727 (GRCm39)	R558*	probably null	Het
Or10ak8	A	T	4: 118,774,183 (GRCm39)	H160Q	probably benign	Het
Or11g7	G	T	14: 50,691,342 (GRCm39)	V278L	probably benign	Het
Or12e9	A	G	2: 87,202,613 (GRCm39)	T246A	probably damaging	Het
Or4a79	A	T	2: 89,551,603 (GRCm39)	I284K	probably damaging	Het
Or5p78	T	C	7: 108,212,198 (GRCm39)	I228T	probably damaging	Het
Or6c217	T	C	10: 129,738,222 (GRCm39)	D119G	probably damaging	Het
Or8b41	A	T	9: 38,054,736 (GRCm39)	M97L	probably benign	Het
Pde11a	A	T	2: 76,045,697 (GRCm39)	F376I	possibly damaging	Het
Prima1	A	T	12: 103,201,920 (GRCm39)	C52S	probably damaging	Het
Pxn	G	A	5: 115,686,606 (GRCm39)	R366H	not run	Het
Sgce	T	C	6: 4,691,564 (GRCm39)	Y337C	probably damaging	Het
Slc25a10	T	A	11: 120,386,286 (GRCm39)	M130K	probably benign	Het
Slc29a2	A	T	19: 5,074,290 (GRCm39)	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875 (GRCm39)	H150Q		Het
Slc5a4a	T	A	10: 75,983,384 (GRCm39)	V7D	unknown	Het
Stk17b	T	A	1: 53,805,159 (GRCm39)	D134V	probably damaging	Het
Tex55	C	T	16: 38,648,453 (GRCm39)	D219N	possibly damaging	Het
Thbs3	T	A	3: 89,124,014 (GRCm39)	S36T	probably benign	Het
Thsd4	A	G	9: 60,335,457 (GRCm39)	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698 (GRCm39)	H422N	probably benign	Het
Tram1	C	A	1: 13,659,868 (GRCm39)	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238 (GRCm39)	V326A	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
R7381:Elp4	UTSW	2	105,622,652 (GRCm39)	missense	not run
R7560:Elp4	UTSW	2	105,624,933 (GRCm39)	missense	probably damaging	1.00
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'- TATTCTGAACCGACCTAAGAGCTG -3'
(R):5'- TTACGCACCGCACTTTTCAG -3'

Sequencing Primer
(F):5'- GTTGACACCAGCAGTTGTCC -3'
(R):5'- CGCACTTTTCAGCAATAGGC -3'

Posted On

2019-11-12