Mutagenetix > Incidental Mutation

Incidental Mutation 'R4400:Elp3'

326604

Institutional Source

Beutler Lab

Gene Symbol

Elp3

Ensembl Gene

ENSMUSG00000022031

Gene Name

elongator acetyltransferase complex subunit 3

Synonyms

KAT9, 2610507P14Rik

MMRRC Submission

041131-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R4400 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65530449-65593075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65548090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 421 (E421K)

Ref Sequence

ENSEMBL: ENSMUSP00000153462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022609] [ENSMUST00000224743] [ENSMUST00000225355]

AlphaFold

Q9CZX0

Predicted Effect

probably benign
Transcript: ENSMUST00000022609
AA Change: E440K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000022609
Gene: ENSMUSG00000022031
AA Change: E440K

Domain	Start	End	E-Value	Type
Elp3	108	370	1.36e-37	SMART
Blast:Elp3	387	431	2e-19	BLAST
Pfam:Acetyltransf_1	460	555	1.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224743
AA Change: E421K

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225355
AA Change: E421K

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]
PHENOTYPE: Embryos homozygous for a null gene trap mutation show severe growth retardation and die prior to E12.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp4b	A	G	8: 13,388,810	F189L	probably damaging	Het
Atp8a1	A	T	5: 67,764,878	Y372N	probably benign	Het
Bves	T	C	10: 45,369,293	V354A	probably benign	Het
Cd79b	A	T	11: 106,312,010	Y195*	probably null	Het
Cog6	A	C	3: 53,012,941	D131E	probably benign	Het
Fbxw28	A	T	9: 109,328,310	F237Y	probably damaging	Het
Fezf1	T	C	6: 23,247,710	N122S	probably benign	Het
Galnt2	A	G	8: 124,324,303	K157E	probably damaging	Het
Git2	T	C	5: 114,733,909	E141G	possibly damaging	Het
Gm26888	T	C	11: 119,154,027		silent	Het
Gnrhr	T	C	5: 86,182,249		probably null	Het
Hoxd13	A	T	2: 74,670,015	D300V	probably damaging	Het
Hspg2	G	A	4: 137,548,122	A2748T	probably benign	Het
Hyal2	A	G	9: 107,570,853	N235S	probably damaging	Het
Itgam	T	G	7: 128,081,658	L253R	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Matr3	A	T	18: 35,583,916	K591N	possibly damaging	Het
Mep1a	T	A	17: 43,475,006	I731F	possibly damaging	Het
Mkl1	G	A	15: 81,020,923	Q103*	probably null	Het
Muc5b	A	G	7: 141,861,387	D2690G	possibly damaging	Het
Nlrc5	A	G	8: 94,494,353	Q1140R	probably benign	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr292	A	G	7: 86,694,590	I45V	probably benign	Het
Olfr711	A	G	7: 106,972,002	L114P	probably damaging	Het
Plcl1	T	C	1: 55,715,577	F1028L	probably damaging	Het
Plpp2	A	G	10: 79,527,493	V106A	possibly damaging	Het
Prpf8	A	G	11: 75,490,702	T255A	possibly damaging	Het
Shoc2	A	G	19: 54,031,229	I568V	probably benign	Het
Spopl	C	T	2: 23,517,945	V241M	probably damaging	Het
Ssrp1	A	T	2: 85,037,941	D9V	probably damaging	Het
Strn3	A	T	12: 51,648,100	D293E	possibly damaging	Het
Tbx3	G	T	5: 119,680,571	D404Y	probably damaging	Het
Tdrd7	T	C	4: 46,005,540	S416P	possibly damaging	Het
Trim60	G	T	8: 65,001,212	Y128*	probably null	Het
Tspoap1	T	C	11: 87,775,603	S947P	probably damaging	Het
Ttn	A	T	2: 76,782,395	S17113R	probably damaging	Het
Ubqln1	T	A	13: 58,193,388	N183I	probably damaging	Het
Ubr4	A	G	4: 139,461,856	N3917D	possibly damaging	Het
Ucp2	A	G	7: 100,499,350	*310W	probably null	Het
Wdr76	A	G	2: 121,528,833	M218V	probably damaging	Het
Zranb3	A	C	1: 127,956,655	L998R	possibly damaging	Het
Zxdc	G	A	6: 90,369,810	G51E	probably damaging	Het

Other mutations in Elp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02477:Elp3	APN	14	65563311	missense	probably benign
R0052:Elp3	UTSW	14	65531526	makesense	probably null
R0333:Elp3	UTSW	14	65590593	missense	probably benign	0.05
R0513:Elp3	UTSW	14	65563246	splice site	probably null
R0980:Elp3	UTSW	14	65577953	missense	probably damaging	1.00
R1137:Elp3	UTSW	14	65547921	missense	probably damaging	0.99
R1259:Elp3	UTSW	14	65547939	missense	probably damaging	0.96
R1378:Elp3	UTSW	14	65592931	missense	probably benign
R1722:Elp3	UTSW	14	65551397	missense	probably benign	0.02
R1789:Elp3	UTSW	14	65547919	missense	probably damaging	1.00
R3843:Elp3	UTSW	14	65565483	splice site	probably null
R4125:Elp3	UTSW	14	65560181	missense	possibly damaging	0.64
R4196:Elp3	UTSW	14	65548002	missense	probably damaging	1.00
R4420:Elp3	UTSW	14	65580791	missense	probably damaging	1.00
R4516:Elp3	UTSW	14	65547877	missense	possibly damaging	0.46
R4764:Elp3	UTSW	14	65582929	missense	probably damaging	1.00
R4838:Elp3	UTSW	14	65547864	critical splice donor site	probably null
R5052:Elp3	UTSW	14	65577940	missense	probably damaging	1.00
R5111:Elp3	UTSW	14	65560236	missense	probably damaging	1.00
R5665:Elp3	UTSW	14	65551402	missense	possibly damaging	0.80
R5702:Elp3	UTSW	14	65577982	missense	probably damaging	1.00
R5754:Elp3	UTSW	14	65547990	missense	probably damaging	1.00
R5927:Elp3	UTSW	14	65582177	missense	probably damaging	1.00
R5999:Elp3	UTSW	14	65531540	missense	probably benign	0.01
R6378:Elp3	UTSW	14	65592971	nonsense	probably null
R6384:Elp3	UTSW	14	65560211	missense	probably damaging	1.00
R6601:Elp3	UTSW	14	65547039	makesense	probably null
R7263:Elp3	UTSW	14	65565333	missense	probably damaging	0.98
R7857:Elp3	UTSW	14	65563310	missense	probably benign	0.14
R8504:Elp3	UTSW	14	65547911	missense	probably benign	0.03
R8789:Elp3	UTSW	14	65565421	missense	probably damaging	1.00
R8853:Elp3	UTSW	14	65577941	missense	probably benign	0.31
R9056:Elp3	UTSW	14	65560133	missense	probably damaging	0.99
R9234:Elp3	UTSW	14	65551471	missense	probably damaging	1.00
R9311:Elp3	UTSW	14	65586339	missense	probably benign	0.02
R9551:Elp3	UTSW	14	65560185	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGATGCTGAAATTTAGTGGGATCC -3'
(R):5'- TAGCCCATGAACAATCCTGTGC -3'

Sequencing Primer
(F):5'- AAATTTAGTGGGATCCCGGCTG -3'
(R):5'- ACAATCCTGTGCTACTTGAGAGG -3'

Posted On

2015-07-07