Mutagenetix > Incidental Mutation

Incidental Mutation 'R8853:Elp3'

675142

Institutional Source

Beutler Lab

Gene Symbol

Elp3

Ensembl Gene

ENSMUSG00000022031

Gene Name

elongator acetyltransferase complex subunit 3

Synonyms

KAT9, 2610507P14Rik

MMRRC Submission

068675-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R8853 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65767898-65830524 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65815390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 220 (I220F)

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: I220F

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022609
Gene: ENSMUSG00000022031
AA Change: I220F

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: I201F

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225355
AA Change: I201F

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (56/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1	A	T	6: 48,882,994 (GRCm39)	Y290F	probably benign	Het
Ap5m1	T	A	14: 49,311,337 (GRCm39)	L136M	possibly damaging	Het
Arpp21	T	G	9: 111,976,516 (GRCm39)	T322P	probably damaging	Het
Atp6v1c2	C	T	12: 17,351,148 (GRCm39)	V128M	possibly damaging	Het
C4b	A	G	17: 34,948,879 (GRCm39)	V1523A	possibly damaging	Het
Copg2	G	C	6: 30,803,115 (GRCm39)	L277V	probably benign	Het
Cyp2b19	A	G	7: 26,456,645 (GRCm39)	T12A	possibly damaging	Het
D5Ertd579e	A	T	5: 36,787,024 (GRCm39)	C115S	probably damaging	Het
Defb35	G	A	8: 22,430,806 (GRCm39)	R60Q	unknown	Het
Dlgap3	T	A	4: 127,088,810 (GRCm39)	D135E	probably damaging	Het
Dync2h1	A	T	9: 7,117,645 (GRCm39)	W2215R	possibly damaging	Het
Eea1	G	C	10: 95,857,517 (GRCm39)	A660P		Het
Egfr	A	G	11: 16,858,885 (GRCm39)	I955V	possibly damaging	Het
Eif3b	G	A	5: 140,425,774 (GRCm39)	V655M	probably damaging	Het
Ern2	A	G	7: 121,772,967 (GRCm39)	V550A	probably damaging	Het
Evc	G	A	5: 37,460,647 (GRCm39)	S857L	possibly damaging	Het
Glt28d2	T	A	3: 85,779,087 (GRCm39)	M129L	probably benign	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,547,726 (GRCm39)	Y2742N	probably damaging	Het
Klhl6	T	A	16: 19,765,979 (GRCm39)	Q541L	possibly damaging	Het
Myh14	G	A	7: 44,265,678 (GRCm39)	T1559I	probably benign	Het
Myo7b	A	G	18: 32,119,744 (GRCm39)	F783L	possibly damaging	Het
Myrip	C	T	9: 120,290,487 (GRCm39)	A702V	probably damaging	Het
Ndnf	C	A	6: 65,680,161 (GRCm39)	Q147K	probably benign	Het
Necab2	C	G	8: 120,189,339 (GRCm39)	R170G	possibly damaging	Het
Nfatc4	T	C	14: 56,063,690 (GRCm39)	I59T	probably damaging	Het
Nfix	A	G	8: 85,454,276 (GRCm39)	S211P	probably damaging	Het
Nlrp5	A	T	7: 23,117,725 (GRCm39)	Q483L	possibly damaging	Het
Or6k14	T	C	1: 173,927,861 (GRCm39)	V279A	probably damaging	Het
Pde4a	A	G	9: 21,106,119 (GRCm39)	T245A	possibly damaging	Het
Peli2	C	T	14: 48,493,945 (GRCm39)	T389M	probably damaging	Het
Pfas	T	C	11: 68,883,744 (GRCm39)	K638E	probably damaging	Het
Pkhd1	A	G	1: 20,143,679 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,688,967 (GRCm39)	D67G	probably damaging	Het
Plcl2	A	T	17: 50,913,884 (GRCm39)	R298*	probably null	Het
Ppp1r13l	A	G	7: 19,103,893 (GRCm39)	I125V	probably benign	Het
Ppp2r3d	A	G	9: 101,090,110 (GRCm39)	V71A	probably benign	Het
Pvr	A	G	7: 19,650,897 (GRCm39)	V209A	possibly damaging	Het
Rap1gap2	A	G	11: 74,298,198 (GRCm39)	L414P	probably damaging	Het
Rasgrp2	A	G	19: 6,464,855 (GRCm39)	D601G	probably damaging	Het
Reck	T	A	4: 43,912,089 (GRCm39)	N199K	probably benign	Het
Rin2	G	T	2: 145,718,475 (GRCm39)	A652S	possibly damaging	Het
Rnf34	T	C	5: 123,002,087 (GRCm39)	L88P	possibly damaging	Het
Serpina3m	A	G	12: 104,355,914 (GRCm39)	I194V	probably benign	Het
Spred3	A	G	7: 28,861,415 (GRCm39)	S255P	probably benign	Het
Sult2a7	A	G	7: 14,225,641 (GRCm39)		probably null	Het
Synpo2l	C	A	14: 20,711,442 (GRCm39)	G622C	probably damaging	Het
Tenm3	A	G	8: 48,795,382 (GRCm39)	C582R	probably damaging	Het
Tex261	A	T	6: 83,750,727 (GRCm39)	I90N	probably damaging	Het
Trappc11	A	G	8: 47,982,439 (GRCm39)	F100S	probably damaging	Het
Trhde	G	A	10: 114,636,830 (GRCm39)	P126S	probably benign	Het
Vmn2r53	A	T	7: 12,315,737 (GRCm39)	V694E	probably damaging	Het
Vmn2r54	A	T	7: 12,349,782 (GRCm39)	L600Q	probably damaging	Het
Vwf	G	A	6: 125,634,227 (GRCm39)	C2174Y		Het
Wee2	A	G	6: 40,441,200 (GRCm39)	T502A	probably benign	Het
Zfp112	A	T	7: 23,823,390 (GRCm39)		silent	Het
Zfp40	T	A	17: 23,394,691 (GRCm39)	H632L	possibly damaging	Het
Zmynd11	T	C	13: 9,740,965 (GRCm39)	S378G	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
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'- GCCTGTGTCTGAAAAGATCTATG -3'
(R):5'- GGAGCAACTCTCTGATGGATG -3'

Sequencing Primer
(F):5'- TGACTATGCCAATGAAACATACTTG -3'
(R):5'- GTGTGTGCTTCTTCCAGCTAAAGC -3'

Posted On

2021-07-15