Mutagenetix > Incidental Mutation

Incidental Mutation 'R9551:Elp3'

720509

Institutional Source

Beutler Lab

Gene Symbol

Elp3

Ensembl Gene

ENSMUSG00000022031

Gene Name

elongator acetyltransferase complex subunit 3

Synonyms

KAT9, 2610507P14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R9551 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65767898-65830524 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65797634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 365 (I365V)

Ref Sequence

ENSEMBL: ENSMUSP00000022609 (fasta)

Gene Model

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

AlphaFold

Q9CZX0

Predicted Effect

probably benign
Transcript: ENSMUST00000022609
AA Change: I365V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022609
Gene: ENSMUSG00000022031
AA Change: I365V

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: I346V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225355
AA Change: I346V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,916,064 (GRCm39)	L1660Q	probably benign	Het
Blvrb	A	G	7: 27,158,786 (GRCm39)	D62G	probably benign	Het
Ccdc68	T	A	18: 70,089,113 (GRCm39)	S219T	probably damaging	Het
Cep120	C	A	18: 53,819,033 (GRCm39)	R886L	possibly damaging	Het
Cep290	T	C	10: 100,372,729 (GRCm39)	S1176P	probably damaging	Het
Cnbp	A	G	6: 87,822,108 (GRCm39)	Y139H	probably damaging	Het
Csmd3	T	A	15: 48,655,356 (GRCm39)		probably benign	Het
Cyp2c66	T	C	19: 39,172,246 (GRCm39)	V387A	probably damaging	Het
Dab2ip	T	A	2: 35,605,330 (GRCm39)	C504S	possibly damaging	Het
Depdc7	C	T	2: 104,553,220 (GRCm39)		probably null	Het
Edrf1	A	G	7: 133,240,742 (GRCm39)	D73G	probably damaging	Het
Erbb4	G	A	1: 68,779,642 (GRCm39)	Q45*	probably null	Het
Fam124a	T	G	14: 62,843,988 (GRCm39)	S499A	possibly damaging	Het
Has2	T	C	15: 56,531,090 (GRCm39)	K542E	probably benign	Het
Hnrnpk	A	G	13: 58,544,058 (GRCm39)	S116P	probably benign	Het
Hs3st6	T	C	17: 24,977,228 (GRCm39)	L236P	probably damaging	Het
Il15	T	A	8: 83,061,177 (GRCm39)	H100L	probably benign	Het
Kif14	C	A	1: 136,455,219 (GRCm39)	S1630R	probably damaging	Het
Madd	T	C	2: 91,000,434 (GRCm39)	T544A	probably damaging	Het
Mamdc4	T	C	2: 25,460,035 (GRCm39)	D76G	probably damaging	Het
Mark2	G	T	19: 7,263,263 (GRCm39)	T201N	possibly damaging	Het
Mfsd9	T	C	1: 40,813,152 (GRCm39)	T388A	probably damaging	Het
Mgst3	T	C	1: 167,205,871 (GRCm39)	Y36C	probably damaging	Het
Myh11	T	A	16: 14,064,673 (GRCm39)	E215V		Het
Nmd3	T	C	3: 69,647,329 (GRCm39)	V277A	possibly damaging	Het
Or11g1	C	T	14: 50,651,625 (GRCm39)	S208F	probably benign	Het
Or2y14	C	T	11: 49,404,942 (GRCm39)	T159I	probably damaging	Het
Or6k4	A	T	1: 173,964,885 (GRCm39)	T192S	probably benign	Het
Pbx1	T	C	1: 168,258,910 (GRCm39)	D55G	possibly damaging	Het
Pdzrn3	T	C	6: 101,127,855 (GRCm39)	D937G	probably damaging	Het
Phb1	G	A	11: 95,562,257 (GRCm39)	V45I	probably benign	Het
Pi4ka	T	C	16: 17,125,574 (GRCm39)	E1187G		Het
Piezo2	T	C	18: 63,166,033 (GRCm39)	E2066G	possibly damaging	Het
Pkn2	T	C	3: 142,499,594 (GRCm39)	D977G	probably damaging	Het
Polr1b	C	T	2: 128,957,684 (GRCm39)	R580*	probably null	Het
Pyroxd2	A	G	19: 42,719,756 (GRCm39)		probably null	Het
Rpain	T	C	11: 70,865,816 (GRCm39)	S194P	probably damaging	Het
Scaf1	A	G	7: 44,658,351 (GRCm39)	L176P	probably damaging	Het
Scgb1b12	C	A	7: 32,033,974 (GRCm39)	A78E	probably benign	Het
Scgb2b19	A	G	7: 32,979,198 (GRCm39)	F28S	probably damaging	Het
Setx	T	C	2: 29,020,244 (GRCm39)	M77T	possibly damaging	Het
Skint5	C	T	4: 113,798,052 (GRCm39)	C177Y	possibly damaging	Het
Slco6c1	T	C	1: 97,055,827 (GRCm39)	S25G	probably benign	Het
Sorbs1	G	A	19: 40,361,923 (GRCm39)	R154*	probably null	Het
Ssb	T	A	2: 69,696,982 (GRCm39)	D107E	probably benign	Het
Tcerg1l	T	C	7: 137,995,998 (GRCm39)	D170G	possibly damaging	Het
Tle5	T	C	10: 81,399,988 (GRCm39)	V62A	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmco4	G	A	4: 138,779,895 (GRCm39)	V447M	probably damaging	Het
Trf	C	T	9: 103,099,283 (GRCm39)	V339I	probably benign	Het
Ucp1	T	C	8: 84,024,509 (GRCm39)	L278P	probably damaging	Het
Vmn1r82	A	G	7: 12,039,600 (GRCm39)	N291S	possibly damaging	Het
Vmn1r86	A	T	7: 12,836,781 (GRCm39)	Y32N	possibly damaging	Het
Wnt10b	C	A	15: 98,670,713 (GRCm39)	G272W	probably damaging	Het
Xpo4	A	G	14: 57,828,512 (GRCm39)	F783L	possibly damaging	Het
Yipf4	T	C	17: 74,806,024 (GRCm39)	F221S	probably damaging	Het
Zfp1005	C	A	2: 150,109,856 (GRCm39)	T182K	unknown	Het
Zfp512	G	A	5: 31,623,676 (GRCm39)	C14Y	probably benign	Het
Zfp595	A	T	13: 67,465,067 (GRCm39)	S402T	probably damaging	Het
Zfp658	G	T	7: 43,222,567 (GRCm39)	V281F	probably benign	Het
Zfp827	T	G	8: 79,787,403 (GRCm39)	W190G	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	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
R0052:Elp3	UTSW	14	65,768,975 (GRCm39)	makesense	probably null
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

Predicted Primers

PCR Primer
(F):5'- TCCTACACATGGCATTCCTG -3'
(R):5'- CCCTGTACACTTGACAGAAGGG -3'

Sequencing Primer
(F):5'- ACACATGGCATTCCTGATATTCTAC -3'
(R):5'- AAGCTGGCATAGGAGTCCC -3'

Posted On

2022-08-09