Mutagenetix > Incidental Mutation

Incidental Mutation 'R9311:Elp3'

705577

Institutional Source

Beutler Lab

Gene Symbol

Elp3

Ensembl Gene

ENSMUSG00000022031

Gene Name

elongator acetyltransferase complex subunit 3

Synonyms

KAT9, 2610507P14Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R9311 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65767898-65830524 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65823788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 78 (D78E)

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: D78E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000022609
Gene: ENSMUSG00000022031
AA Change: D78E

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: D59E

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000225355
AA Change: D59E

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0937

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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
A4gnt	T	C	9: 99,495,816 (GRCm39)	I84T	possibly damaging	Het
Adad2	G	T	8: 120,341,986 (GRCm39)	R268L	probably damaging	Het
Agxt2	A	T	15: 10,380,733 (GRCm39)	N208I	probably damaging	Het
Brsk1	G	T	7: 4,709,722 (GRCm39)		probably null	Het
Cd40	A	T	2: 164,912,667 (GRCm39)	Q235L	possibly damaging	Het
Cdcp3	A	T	7: 130,859,490 (GRCm39)	D1137V	unknown	Het
Cln6	T	C	9: 62,757,900 (GRCm39)	Y220H	probably damaging	Het
Cngb1	A	T	8: 96,010,794 (GRCm39)		probably null	Het
Cpne1	A	T	2: 155,919,723 (GRCm39)	V277E	probably damaging	Het
Csf2rb2	C	T	15: 78,176,735 (GRCm39)		probably null	Het
Cyp4f15	A	G	17: 32,905,139 (GRCm39)	T41A	probably benign	Het
Dab1	T	C	4: 104,369,463 (GRCm39)		probably null	Het
Eif4e1b	C	A	13: 54,932,332 (GRCm39)	H56N	probably benign	Het
Ephx3	C	G	17: 32,408,290 (GRCm39)	D45H	probably benign	Het
Gabarap	T	A	11: 69,882,549 (GRCm39)	V4E	probably benign	Het
Gm5105	T	A	3: 137,755,418 (GRCm39)	D56V	unknown	Het
Gosr2	G	T	11: 103,574,693 (GRCm39)	H134Q	probably damaging	Het
Ifi204	A	G	1: 173,589,215 (GRCm39)	V72A	possibly damaging	Het
Irx1	A	G	13: 72,107,416 (GRCm39)	V422A	probably benign	Het
Kcne4	C	A	1: 78,795,824 (GRCm39)	D157E	probably benign	Het
Kctd13	A	G	7: 126,541,345 (GRCm39)	N195S	probably damaging	Het
Kirrel1	A	G	3: 87,005,123 (GRCm39)	V75A	probably benign	Het
Klkb1	T	C	8: 45,722,983 (GRCm39)	T625A	probably benign	Het
Lama5	A	G	2: 179,838,275 (GRCm39)		probably null	Het
Lifr	A	G	15: 7,208,418 (GRCm39)	I599V	possibly damaging	Het
Lin52	A	T	12: 84,576,470 (GRCm39)	E101V	probably damaging	Het
Liph	T	C	16: 21,802,680 (GRCm39)	I130V	probably benign	Het
Liph	C	T	16: 21,774,913 (GRCm39)	R428Q	probably damaging	Het
Lrrc4c	A	C	2: 97,461,080 (GRCm39)	I569L	possibly damaging	Het
Mnat1	G	A	12: 73,214,916 (GRCm39)	V78I	probably benign	Het
Msln	C	T	17: 25,971,990 (GRCm39)	D76N	probably benign	Het
Myh7b	A	G	2: 155,463,253 (GRCm39)	H495R	probably damaging	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nfu1	T	C	6: 86,986,926 (GRCm39)	V15A	probably benign	Het
Nphp4	T	C	4: 152,608,714 (GRCm39)	S441P	probably damaging	Het
Nuak1	T	C	10: 84,214,090 (GRCm39)		probably null	Het
Or1j20	A	T	2: 36,760,405 (GRCm39)	I276F	probably damaging	Het
Or5h27	A	T	16: 59,006,106 (GRCm39)	C247S	unknown	Het
Or5w22	A	G	2: 87,362,358 (GRCm39)		probably benign	Het
Or8b3b	A	G	9: 38,583,925 (GRCm39)	S272P	probably damaging	Het
Palld	A	G	8: 61,978,189 (GRCm39)	V1109A	unknown	Het
Pik3c3	G	A	18: 30,445,666 (GRCm39)	R551H	probably benign	Het
Plcb1	G	A	2: 135,189,385 (GRCm39)	V838I	probably benign	Het
Plppr4	G	T	3: 117,119,518 (GRCm39)	T297K	probably damaging	Het
Ptprd	A	G	4: 76,051,320 (GRCm39)	I67T	probably benign	Het
Rb1cc1	T	A	1: 6,310,539 (GRCm39)	N312K	probably damaging	Het
Sh3glb1	A	C	3: 144,397,659 (GRCm39)		probably null	Het
Siglec1	C	T	2: 130,916,013 (GRCm39)	C1283Y	probably damaging	Het
Spns1	T	C	7: 125,972,995 (GRCm39)	I204V	probably damaging	Het
Sprr5	T	G	3: 92,440,397 (GRCm39)	Q14P	unknown	Het
Supt6	T	C	11: 78,116,284 (GRCm39)	Y693C	probably damaging	Het
Taar9	A	G	10: 23,985,152 (GRCm39)	V94A	probably damaging	Het
Tchp	T	C	5: 114,846,877 (GRCm39)	S55P	probably benign	Het
Tmem132b	A	G	5: 125,863,029 (GRCm39)	H678R	possibly damaging	Het
Tnr	G	C	1: 159,677,663 (GRCm39)	G16A	probably benign	Het
Top3b	T	C	16: 16,700,563 (GRCm39)		probably null	Het
Tpmt	A	G	13: 47,185,892 (GRCm39)		probably null	Het
Treh	G	A	9: 44,592,655 (GRCm39)	V87I	probably benign	Het
Ttc4	T	C	4: 106,535,963 (GRCm39)	D33G	probably benign	Het
Usp47	A	G	7: 111,703,257 (GRCm39)	D1171G	probably benign	Het
Vmn2r61	G	T	7: 41,950,092 (GRCm39)	L837F	possibly damaging	Het
Vmn2r86	T	A	10: 130,288,440 (GRCm39)	N354Y	probably damaging	Het
Vmn2r88	C	G	14: 51,650,503 (GRCm39)	A72G	probably benign	Het
Zscan4b	C	A	7: 10,635,950 (GRCm39)	V126F	probably damaging	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
R9551:Elp3	UTSW	14	65,797,634 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCATCCTAGCTGGTGCAC -3'
(R):5'- ATGAGACCTTCACTGTGCC -3'

Sequencing Primer
(F):5'- TAGCTGGTGCACCTCTCAG -3'
(R):5'- ACTGTGCCGTCGTCCTG -3'

Posted On

2022-03-25