Mutagenetix > Incidental Mutation

Incidental Mutation 'R0052:Elp3'

33066

Institutional Source

Beutler Lab

Gene Symbol

Elp3

Ensembl Gene

ENSMUSG00000022031

Gene Name

elongator acetyltransferase complex subunit 3

Synonyms

KAT9, 2610507P14Rik

MMRRC Submission

038346-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R0052 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65767898-65830524 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 65768975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 548 (*548Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153462 (fasta)

Gene Model

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

AlphaFold

Q9CZX0

Predicted Effect

probably null
Transcript: ENSMUST00000022609
AA Change: *567Q

SMART Domains

Protein: ENSMUSP00000022609
Gene: ENSMUSG00000022031
AA Change: *567Q

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

Predicted Effect

probably null
Transcript: ENSMUST00000225355
AA Change: *548Q

Meta Mutation Damage Score

0.8624

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.2%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	T	C	19: 23,893,315 (GRCm39)	S438P	possibly damaging	Het
Atosa	A	G	9: 74,926,265 (GRCm39)		probably benign	Het
Atp2a1	A	G	7: 126,057,069 (GRCm39)		probably benign	Het
Axin2	T	C	11: 108,840,096 (GRCm39)	Y735H	probably damaging	Het
Bicd2	T	A	13: 49,528,790 (GRCm39)	L184Q	probably damaging	Het
Bub1	G	A	2: 127,650,959 (GRCm39)	T618I	probably benign	Het
Catsperg2	A	G	7: 29,424,445 (GRCm39)		probably benign	Het
Ccdc73	T	A	2: 104,759,915 (GRCm39)		probably benign	Het
Crybg3	A	T	16: 59,386,019 (GRCm39)		probably benign	Het
Dsp	A	G	13: 38,381,340 (GRCm39)	D2096G	possibly damaging	Het
Eef2	C	CN	10: 81,014,602 (GRCm39)		probably null	Het
Eno4	A	G	19: 58,956,985 (GRCm39)	D357G	probably damaging	Het
Fcrl2	A	T	3: 87,164,085 (GRCm39)	I348N	possibly damaging	Het
Fgl2	A	T	5: 21,580,347 (GRCm39)	S230C	probably damaging	Het
Ginm1	T	A	10: 7,655,070 (GRCm39)	E57D	possibly damaging	Het
Gtf3c1	A	T	7: 125,267,143 (GRCm39)		probably null	Het
Herc1	G	T	9: 66,307,438 (GRCm39)	G1044V	probably damaging	Het
Hmcn1	G	A	1: 150,553,157 (GRCm39)	T2511M	probably damaging	Het
Iba57	C	T	11: 59,049,727 (GRCm39)	A207T	probably benign	Het
Itga9	T	A	9: 118,465,617 (GRCm39)	I157N	probably damaging	Het
Kalrn	A	G	16: 34,177,541 (GRCm39)	L208P	probably damaging	Het
Kcnj10	A	G	1: 172,196,491 (GRCm39)	T2A	probably benign	Het
Kdm1b	T	A	13: 47,217,593 (GRCm39)	C351S	probably damaging	Het
Kif21a	T	C	15: 90,855,060 (GRCm39)	E700G	probably damaging	Het
Mmd	C	T	11: 90,150,824 (GRCm39)		probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Morn3	T	C	5: 123,184,726 (GRCm39)	Y38C	probably damaging	Het
Nacc1	A	T	8: 85,402,854 (GRCm39)	V313D	probably benign	Het
Nbeal1	T	A	1: 60,267,771 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,163,992 (GRCm39)	K1989E	possibly damaging	Het
Nlrp3	C	T	11: 59,455,954 (GRCm39)	R917*	probably null	Het
Nlrp4b	T	A	7: 10,459,889 (GRCm39)	Y463*	probably null	Het
Perm1	A	T	4: 156,302,572 (GRCm39)	D372V	probably damaging	Het
Phf3	T	C	1: 30,847,848 (GRCm39)	T1232A	probably damaging	Het
Phldb3	G	A	7: 24,312,004 (GRCm39)	R106Q	probably benign	Het
Pld4	T	A	12: 112,734,291 (GRCm39)	F386I	probably benign	Het
Prex2	T	A	1: 11,230,380 (GRCm39)	L802Q	probably damaging	Het
Psd3	A	G	8: 68,335,631 (GRCm39)		probably null	Het
Ralgds	T	A	2: 28,434,400 (GRCm39)		probably null	Het
Rmdn2	A	G	17: 79,957,760 (GRCm39)	E16G	probably damaging	Het
Rnf111	A	T	9: 70,383,671 (GRCm39)	S87R	probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc9c1	A	G	16: 45,427,219 (GRCm39)		probably benign	Het
Slco3a1	A	T	7: 74,154,074 (GRCm39)	I166N	probably benign	Het
Snx5	A	T	2: 144,101,112 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,636,732 (GRCm39)	D741G	possibly damaging	Het
St8sia2	G	T	7: 73,593,038 (GRCm39)	Y339*	probably null	Het
St8sia2	A	T	7: 73,621,700 (GRCm39)	W86R	probably damaging	Het
Stk33	A	G	7: 108,878,876 (GRCm39)	L491P	possibly damaging	Het
Sult2a7	T	C	7: 14,199,133 (GRCm39)	Y298C	probably damaging	Het
Tdo2	T	A	3: 81,874,332 (GRCm39)	N210I	probably benign	Het
Thada	A	T	17: 84,762,586 (GRCm39)	N104K	probably damaging	Het
Timm8b	A	T	9: 50,516,330 (GRCm39)	D61V	possibly damaging	Het
Tshz1	G	A	18: 84,033,070 (GRCm39)	T446I	possibly damaging	Het
Ubap2l	T	C	3: 89,946,235 (GRCm39)	N123S	possibly damaging	Het
Vmn1r48	T	C	6: 90,013,246 (GRCm39)	E193G	possibly damaging	Het
Vmn1r69	C	T	7: 10,314,327 (GRCm39)	V135I	probably benign	Het
Vmn2r103	G	T	17: 20,031,903 (GRCm39)	G559V	probably benign	Het
Vmn2r26	T	A	6: 124,038,992 (GRCm39)	*856R	probably null	Het
Vmn2r88	A	G	14: 51,656,157 (GRCm39)	I798V	possibly damaging	Het
Vsir	C	T	10: 60,193,861 (GRCm39)	A108V	probably benign	Het
Zfp14	G	T	7: 29,737,753 (GRCm39)	Q411K	probably damaging	Het
Zfp236	A	T	18: 82,657,457 (GRCm39)	M762K	probably damaging	Het
Zfp462	G	A	4: 55,011,762 (GRCm39)	G1243S	probably benign	Het

Other mutations in Elp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02477:Elp3	APN	14	65,800,760 (GRCm39)	missense	probably benign
R0333:Elp3	UTSW	14	65,828,042 (GRCm39)	missense	probably benign	0.05
R0513:Elp3	UTSW	14	65,800,695 (GRCm39)	splice site	probably null
R0980:Elp3	UTSW	14	65,815,402 (GRCm39)	missense	probably damaging	1.00
R1137:Elp3	UTSW	14	65,785,370 (GRCm39)	missense	probably damaging	0.99
R1259:Elp3	UTSW	14	65,785,388 (GRCm39)	missense	probably damaging	0.96
R1378:Elp3	UTSW	14	65,830,380 (GRCm39)	missense	probably benign
R1722:Elp3	UTSW	14	65,788,846 (GRCm39)	missense	probably benign	0.02
R1789:Elp3	UTSW	14	65,785,368 (GRCm39)	missense	probably damaging	1.00
R3843:Elp3	UTSW	14	65,802,932 (GRCm39)	splice site	probably null
R4125:Elp3	UTSW	14	65,797,630 (GRCm39)	missense	possibly damaging	0.64
R4196:Elp3	UTSW	14	65,785,451 (GRCm39)	missense	probably damaging	1.00
R4400:Elp3	UTSW	14	65,785,539 (GRCm39)	missense	possibly damaging	0.89
R4420:Elp3	UTSW	14	65,818,240 (GRCm39)	missense	probably damaging	1.00
R4516:Elp3	UTSW	14	65,785,326 (GRCm39)	missense	possibly damaging	0.46
R4764:Elp3	UTSW	14	65,820,378 (GRCm39)	missense	probably damaging	1.00
R4838:Elp3	UTSW	14	65,785,313 (GRCm39)	critical splice donor site	probably null
R5052:Elp3	UTSW	14	65,815,389 (GRCm39)	missense	probably damaging	1.00
R5111:Elp3	UTSW	14	65,797,685 (GRCm39)	missense	probably damaging	1.00
R5665:Elp3	UTSW	14	65,788,851 (GRCm39)	missense	possibly damaging	0.80
R5702:Elp3	UTSW	14	65,815,431 (GRCm39)	missense	probably damaging	1.00
R5754:Elp3	UTSW	14	65,785,439 (GRCm39)	missense	probably damaging	1.00
R5927:Elp3	UTSW	14	65,819,626 (GRCm39)	missense	probably damaging	1.00
R5999:Elp3	UTSW	14	65,768,989 (GRCm39)	missense	probably benign	0.01
R6378:Elp3	UTSW	14	65,830,420 (GRCm39)	nonsense	probably null
R6384:Elp3	UTSW	14	65,797,660 (GRCm39)	missense	probably damaging	1.00
R6601:Elp3	UTSW	14	65,784,488 (GRCm39)	makesense	probably null
R7263:Elp3	UTSW	14	65,802,782 (GRCm39)	missense	probably damaging	0.98
R7857:Elp3	UTSW	14	65,800,759 (GRCm39)	missense	probably benign	0.14
R8504:Elp3	UTSW	14	65,785,360 (GRCm39)	missense	probably benign	0.03
R8789:Elp3	UTSW	14	65,802,870 (GRCm39)	missense	probably damaging	1.00
R8853:Elp3	UTSW	14	65,815,390 (GRCm39)	missense	probably benign	0.31
R9056:Elp3	UTSW	14	65,797,582 (GRCm39)	missense	probably damaging	0.99
R9234:Elp3	UTSW	14	65,788,920 (GRCm39)	missense	probably damaging	1.00
R9311:Elp3	UTSW	14	65,823,788 (GRCm39)	missense	probably benign	0.02
R9551:Elp3	UTSW	14	65,797,634 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTCACAGCGTCTGAGCCAAAATG -3'
(R):5'- ATTTCTCCCACAGCAGCGTCTATG -3'

Sequencing Primer
(F):5'- GCAGCCTTCATGCAGAATTTAG -3'
(R):5'- AGGGCAAGTTTCTATATGAGATTCG -3'

Posted On

2013-05-09