Mutagenetix > Incidental Mutations

Incidental Mutation 'R6585:Elp2'

524363

Institutional Source

Beutler Lab

Gene Symbol

Elp2

Ensembl Gene

ENSMUSG00000024271

Gene Name

elongator acetyltransferase complex subunit 2

Synonyms

Statip1, StIP1, Stat3-interacting protein

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R6585 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24603961-24638830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24625549 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 503 (L503S)

Ref Sequence

ENSEMBL: ENSMUSP00000025120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025120]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025120
AA Change: L503S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025120
Gene: ENSMUSG00000024271
AA Change: L503S

Domain	Start	End	E-Value	Type
WD40	47	91	1.06e-3	SMART
WD40	94	143	2.24e-2	SMART
WD40	196	237	4.69e-5	SMART
WD40	271	319	2.44e-3	SMART
Blast:WD40	329	368	1e-20	BLAST
WD40	376	415	2.12e-3	SMART
WD40	429	467	1.71e1	SMART
WD40	556	600	7.43e-1	SMART
WD40	603	642	1.93e-6	SMART
WD40	661	697	1.55e-5	SMART
Blast:WD40	709	753	7e-21	BLAST
WD40	766	825	1.92e0	SMART

Meta Mutation Damage Score

0.9719

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

97% (30/31)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,737,668	C108Y	probably damaging	Het
AA792892	C	T	5: 94,381,556	P62S	probably benign	Het
Adam1b	G	T	5: 121,501,187	D598E	probably benign	Het
Agr2	G	A	12: 35,995,626	R37Q	probably benign	Het
Ascc3	A	G	10: 50,842,177	K1989E	probably benign	Het
Chd1l	A	G	3: 97,597,772	F160L	probably damaging	Het
Ciita	T	A	16: 10,511,745	V628E	probably benign	Het
Dis3l2	T	A	1: 86,745,494	I69N	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Fcgbp	A	T	7: 28,113,979	Q2313L	possibly damaging	Het
Gm14851	A	G	8: 21,095,232	C65R	possibly damaging	Het
Gpr155	A	T	2: 73,349,645	I157N	probably damaging	Het
Hist2h2bb	A	T	3: 96,270,097	T116S	probably benign	Het
Kcnj1	T	C	9: 32,397,261	V307A	probably benign	Het
Lama3	G	A	18: 12,419,257		probably null	Het
Lrp6	A	T	6: 134,507,558	Y367*	probably null	Het
Ms4a14	T	A	19: 11,303,645	Q516H	unknown	Het
Nprl3	C	T	11: 32,234,812	R399Q	probably benign	Het
Olfr273	A	T	4: 52,856,192	M107K	possibly damaging	Het
Olfr290	A	T	7: 84,916,462	I228F	probably damaging	Het
Park7	G	T	4: 150,905,264	Q80K	probably benign	Het
Pramef20	C	A	4: 144,377,030	L175F	possibly damaging	Het
Ptgs2	T	C	1: 150,103,987	V281A	possibly damaging	Het
Rprd1a	T	C	18: 24,506,663		probably null	Het
Speer4f2	A	G	5: 17,374,422	E73G	probably damaging	Het
Spta1	T	C	1: 174,178,685	W138R	probably damaging	Het
U2surp	T	C	9: 95,472,071	E838G	probably damaging	Het
Urb2	G	T	8: 124,031,125	E1190D	probably damaging	Het
Usp19	G	T	9: 108,499,727	L1165F	probably damaging	Het
Zfp27	G	A	7: 29,896,393	T49I	possibly damaging	Het

Other mutations in Elp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01800:Elp2	APN	18	24617491	missense	probably benign	0.01
IGL01909:Elp2	APN	18	24619519	splice site	probably benign
IGL01974:Elp2	APN	18	24626203	missense	probably damaging	0.99
IGL02243:Elp2	APN	18	24622606	missense	probably benign	0.11
IGL03049:Elp2	APN	18	24631459	missense	probably benign	0.05
IGL03236:Elp2	APN	18	24622243	splice site	probably benign
IGL03380:Elp2	APN	18	24622480	missense	probably benign	0.05
Camelid	UTSW	18	24625549	missense	probably damaging	1.00
PIT4283001:Elp2	UTSW	18	24622130	missense	probably damaging	1.00
PIT4531001:Elp2	UTSW	18	24604113	missense	probably damaging	0.99
R0119:Elp2	UTSW	18	24634409	missense	probably benign	0.03
R0244:Elp2	UTSW	18	24631471	missense	possibly damaging	0.81
R0299:Elp2	UTSW	18	24634409	missense	probably benign	0.03
R0609:Elp2	UTSW	18	24626156	missense	probably benign
R0671:Elp2	UTSW	18	24612442	splice site	probably benign
R1531:Elp2	UTSW	18	24631404	missense	probably benign	0.06
R1658:Elp2	UTSW	18	24617413	missense	probably benign	0.27
R1673:Elp2	UTSW	18	24611926	missense	possibly damaging	0.93
R2012:Elp2	UTSW	18	24631458	missense	probably benign	0.00
R3861:Elp2	UTSW	18	24606920	missense	probably benign	0.01
R4038:Elp2	UTSW	18	24634348	missense	probably damaging	1.00
R4396:Elp2	UTSW	18	24609650	missense	probably damaging	1.00
R4507:Elp2	UTSW	18	24626120	splice site	probably null
R4901:Elp2	UTSW	18	24619485	missense	probably damaging	1.00
R5389:Elp2	UTSW	18	24606903	missense	possibly damaging	0.87
R5511:Elp2	UTSW	18	24612450	nonsense	probably null
R5633:Elp2	UTSW	18	24615210	missense	probably damaging	1.00
R5728:Elp2	UTSW	18	24617452	missense	probably damaging	1.00
R6855:Elp2	UTSW	18	24606877	missense	possibly damaging	0.48
R6877:Elp2	UTSW	18	24634976	missense	probably benign	0.00
R7145:Elp2	UTSW	18	24604069	missense	probably benign	0.42
R7163:Elp2	UTSW	18	24614446	missense	probably benign	0.00
R7313:Elp2	UTSW	18	24609659	missense	probably benign	0.05
R7318:Elp2	UTSW	18	24606899	missense	probably damaging	1.00
R7403:Elp2	UTSW	18	24619485	missense	probably damaging	1.00
R7497:Elp2	UTSW	18	24611928	missense	probably damaging	0.96
R8017:Elp2	UTSW	18	24606863	missense	possibly damaging	0.93
R8019:Elp2	UTSW	18	24606863	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGGACCTGTCTGTTGGAAAG -3'
(R):5'- ACTGTTCCTGTGTCAGTGGC -3'

Sequencing Primer
(F):5'- AAAGGGATTGCTTGGAGTGGC -3'
(R):5'- CTGTGTCAGTGGCTACATGAGAATAG -3'

Posted On

2018-06-22