Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Elp3'

444376

Institutional Source

Beutler Lab

Gene Symbol

Elp3

Ensembl Gene

ENSMUSG00000022031

Gene Name

elongator acetyltransferase complex subunit 3

Synonyms

KAT9, 2610507P14Rik

MMRRC Submission

043308-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65530449-65593075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65551402 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 392 (K392E)

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: K411E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022609
Gene: ENSMUSG00000022031
AA Change: K411E

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: K392E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225355
AA Change: K392E

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Acaca	G	T	11: 84,245,294	E492*	probably null	Het
Acp7	T	A	7: 28,616,543	K206M	probably benign	Het
Agbl1	T	A	7: 76,589,503	F584I	probably damaging	Het
Ahi1	A	G	10: 21,055,047	I929V	possibly damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,000,900	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,223,038	T173P	probably damaging	Het
Asap1	A	G	15: 64,312,453	S44P	probably damaging	Het
Btbd7	C	A	12: 102,785,197	A1103S	probably benign	Het
Capn10	T	A	1: 92,937,931		probably null	Het
Capn7	T	C	14: 31,369,802	F719L	probably benign	Het
Casp7	G	A	19: 56,440,982	D267N	probably benign	Het
Ccdc13	C	A	9: 121,814,290	K348N	probably damaging	Het
Chchd1	T	C	14: 20,703,110	F13L	probably benign	Het
Clcn6	T	A	4: 148,014,561	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,827,880	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,154,554	F278S	probably damaging	Het
Dhx16	C	T	17: 35,891,086	Q1002*	probably null	Het
Dppa4	T	C	16: 48,291,015	L121P	probably benign	Het
Dpyd	A	G	3: 118,917,092	E383G	probably damaging	Het
Eif4g3	A	G	4: 138,126,589	T489A	probably benign	Het
Elovl1	G	T	4: 118,431,635	V174L	probably damaging	Het
Fancd2os	C	A	6: 113,598,024	W7L	probably damaging	Het
Fchsd2	A	G	7: 101,110,784	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,554,308	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,109,911	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,852,796	R137C	probably damaging	Het
Herc1	A	G	9: 66,465,435	E3091G	probably damaging	Het
Homer1	A	T	13: 93,356,102	M184L	probably benign	Het
Izumo1r	T	C	9: 14,900,849	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,901,909	Q590*	probably null	Het
Lama1	G	T	17: 67,770,987	C1139F	probably damaging	Het
Med29	C	T	7: 28,386,814	A190T	probably benign	Het
Mgea5	A	C	19: 45,776,997	S124A	probably benign	Het
Muc4	T	C	16: 32,750,782	V220A	probably benign	Het
Mxra8	G	T	4: 155,842,921	V388L	probably benign	Het
Myo5a	T	C	9: 75,144,181		probably null	Het
Myrip	A	G	9: 120,461,433	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,506,485	V313A	probably benign	Het
Olfm2	T	G	9: 20,668,544		probably null	Het
Olfr1113	T	A	2: 87,213,728	S279T	probably benign	Het
Olfr248	T	C	1: 174,391,375	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,626,788	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,114,811	E225G	possibly damaging	Het
Pigs	C	A	11: 78,328,769		probably null	Het
Pkhd1	T	A	1: 20,588,531	T159S	probably damaging	Het
Plk4	A	G	3: 40,813,586	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,215,722	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,159,081		probably null	Het
Pygb	T	C	2: 150,820,888		probably null	Het
Rnf114	T	C	2: 167,510,934	I118T	possibly damaging	Het
Sbno2	A	G	10: 80,058,453	L1099P	probably benign	Het
Scaper	T	C	9: 55,807,632	K791E	probably damaging	Het
Serping1	T	C	2: 84,771,545	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,321,403	S617P	possibly damaging	Het
Slk	G	A	19: 47,636,457	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,792,139	E227V	probably benign	Het
Sostdc1	C	A	12: 36,314,408	P39T	probably benign	Het
Spred1	C	T	2: 117,153,005	R16*	probably null	Het
Srpk2	A	G	5: 23,518,477	I547T	probably damaging	Het
Stt3a	A	G	9: 36,759,314	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,266,147	L272H	probably damaging	Het
Syne2	T	A	12: 76,108,217		probably null	Het
Uso1	A	T	5: 92,198,337	E793V	possibly damaging	Het
Usp15	A	T	10: 123,130,987	L476*	probably null	Het
Vmn1r189	T	C	13: 22,102,166	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,786,979	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,668,690	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,265,192	S537P	probably damaging	Het
Zbtb12	T	C	17: 34,895,883	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,113,102	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,513	D151G	probably null	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
R4400:Elp3	UTSW	14	65548090	missense	possibly damaging	0.89
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
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'- TTCTGCAAGCTACCCAGAAC -3'
(R):5'- AGGGATGCTCTCTACCTTGC -3'

Sequencing Primer
(F):5'- CACCTCGAACACACAAAGTTTTCTG -3'
(R):5'- GCTCCGCAGCTTTGTGGTC -3'

Posted On

2016-11-09