Mutagenetix > Incidental Mutation

Incidental Mutation 'R0244:Elp2'

38022

Institutional Source

Beutler Lab

Gene Symbol

Elp2

Ensembl Gene

ENSMUSG00000024271

Gene Name

elongator acetyltransferase complex subunit 2

Synonyms

Statip1, Stat3-interacting protein, StIP1

MMRRC Submission

038482-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24737018-24771887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24764528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 625 (D625G)

Ref Sequence

ENSEMBL: ENSMUSP00000025120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025120]

AlphaFold

Q91WG4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025120
AA Change: D625G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025120
Gene: ENSMUSG00000024271
AA Change: D625G

Domain	Start	End	E-Value	Type
WD40	47	91	1.06e-3	SMART
WD40	94	143	2.24e-2	SMART
WD40	196	237	4.69e-5	SMART
WD40	271	319	2.44e-3	SMART
Blast:WD40	329	368	1e-20	BLAST
WD40	376	415	2.12e-3	SMART
WD40	429	467	1.71e1	SMART
WD40	556	600	7.43e-1	SMART
WD40	603	642	1.93e-6	SMART
WD40	661	697	1.55e-5	SMART
Blast:WD40	709	753	7e-21	BLAST
WD40	766	825	1.92e0	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (88/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,806,172 (GRCm39)	C434*	probably null	Het
Adprhl1	A	G	8: 13,292,391 (GRCm39)		probably benign	Het
Ago1	T	A	4: 126,357,499 (GRCm39)	I59F	possibly damaging	Het
Arel1	T	C	12: 84,967,467 (GRCm39)	T786A	probably damaging	Het
Arhgap26	A	G	18: 39,496,184 (GRCm39)	K117R	probably benign	Het
Atp6v0b	C	T	4: 117,741,819 (GRCm39)	G204D	probably damaging	Het
Bace2	T	A	16: 97,237,973 (GRCm39)		probably null	Het
Bltp2	T	A	11: 78,177,317 (GRCm39)		probably null	Het
Camk4	G	A	18: 33,312,678 (GRCm39)		probably null	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cep152	T	C	2: 125,406,134 (GRCm39)	E1466G	probably benign	Het
Ces3b	T	C	8: 105,819,267 (GRCm39)	F441S	probably damaging	Het
Cfap52	T	C	11: 67,817,208 (GRCm39)	T562A	possibly damaging	Het
Clca3a2	C	A	3: 144,519,659 (GRCm39)	M238I	possibly damaging	Het
Cntnap5c	A	T	17: 58,409,163 (GRCm39)	D467V	probably damaging	Het
Col7a1	T	A	9: 108,801,252 (GRCm39)		probably null	Het
Cstf1	A	G	2: 172,219,630 (GRCm39)	N247S	possibly damaging	Het
Dffb	G	T	4: 154,059,072 (GRCm39)	N68K	probably benign	Het
Dnaaf10	T	C	11: 17,179,851 (GRCm39)	L284P	probably damaging	Het
Duox2	C	T	2: 122,122,341 (GRCm39)	G595S	probably benign	Het
Eftud2	T	A	11: 102,755,551 (GRCm39)	I228F	probably damaging	Het
Elmo3	T	C	8: 106,035,803 (GRCm39)	V578A	probably benign	Het
Ep300	C	T	15: 81,524,329 (GRCm39)	P1386S	unknown	Het
Fam120b	A	G	17: 15,637,899 (GRCm39)	D610G	probably damaging	Het
Fastk	A	T	5: 24,647,176 (GRCm39)		probably benign	Het
Fbxl6	A	G	15: 76,421,391 (GRCm39)	S252P	probably damaging	Het
Fbxo43	T	C	15: 36,161,939 (GRCm39)	K423E	probably damaging	Het
Filip1	T	A	9: 79,726,744 (GRCm39)	E625V	possibly damaging	Het
Fkbp9	T	A	6: 56,833,363 (GRCm39)	Y283*	probably null	Het
Gigyf2	T	A	1: 87,306,737 (GRCm39)	D142E	possibly damaging	Het
Gm10142	T	C	10: 77,551,848 (GRCm39)		probably null	Het
Golga5	T	C	12: 102,442,447 (GRCm39)	V262A	probably benign	Het
Hectd4	T	C	5: 121,467,668 (GRCm39)	V2539A	probably benign	Het
Ica1	G	T	6: 8,653,632 (GRCm39)	S335*	probably null	Het
Itga1	A	T	13: 115,143,433 (GRCm39)		probably benign	Het
Itgb1	T	C	8: 129,444,166 (GRCm39)		probably benign	Het
Itpr1	G	A	6: 108,450,550 (GRCm39)	V1960I	probably benign	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kprp	C	T	3: 92,732,718 (GRCm39)	V111I	probably benign	Het
Lamc3	T	C	2: 31,830,733 (GRCm39)	I1490T	probably damaging	Het
Lcp1	A	T	14: 75,464,441 (GRCm39)	D554V	possibly damaging	Het
Lgi3	A	G	14: 70,772,138 (GRCm39)	T228A	probably benign	Het
Lipa	A	T	19: 34,478,941 (GRCm39)	F260I	probably damaging	Het
Lrriq1	C	T	10: 103,051,634 (GRCm39)	E373K	probably damaging	Het
Map6	G	A	7: 98,986,043 (GRCm39)	G649D	probably benign	Het
Mccc1	A	G	3: 36,044,196 (GRCm39)		probably null	Het
Mical3	A	T	6: 120,934,683 (GRCm39)	S1799T	probably benign	Het
Mmp23	T	A	4: 155,736,589 (GRCm39)	T151S	probably damaging	Het
Myo1d	T	A	11: 80,565,534 (GRCm39)	N401I	probably damaging	Het
Myo9b	T	A	8: 71,774,457 (GRCm39)	S323T	probably damaging	Het
Nbn	G	T	4: 15,979,353 (GRCm39)	W446L	probably benign	Het
Nedd1	A	T	10: 92,552,127 (GRCm39)		probably benign	Het
Ngef	C	A	1: 87,415,684 (GRCm39)		probably benign	Het
Nup153	A	T	13: 46,847,412 (GRCm39)	N672K	probably benign	Het
Or10d1b	T	A	9: 39,613,469 (GRCm39)	I199F	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or4e2	T	C	14: 52,687,969 (GRCm39)	V33A	probably benign	Het
Or4f57	T	C	2: 111,791,361 (GRCm39)	N19S	probably benign	Het
Pakap	T	G	4: 57,710,177 (GRCm39)	V374G	possibly damaging	Het
Pdlim3	C	A	8: 46,361,497 (GRCm39)		probably benign	Het
Pmfbp1	G	A	8: 110,268,305 (GRCm39)	E951K	probably damaging	Het
Pop1	T	A	15: 34,516,037 (GRCm39)	C548*	probably null	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ptpdc1	A	T	13: 48,739,456 (GRCm39)	N658K	probably benign	Het
Ptprk	A	C	10: 28,082,221 (GRCm39)	E63D	possibly damaging	Het
Rtf1	C	T	2: 119,563,358 (GRCm39)	R712W	probably damaging	Het
Samd7	A	C	3: 30,805,222 (GRCm39)	T2P	probably benign	Het
Sft2d1	A	G	17: 8,538,254 (GRCm39)	T52A	probably benign	Het
Slc25a26	A	G	6: 94,487,814 (GRCm39)	H91R	probably damaging	Het
Slc5a4a	A	G	10: 76,024,986 (GRCm39)	E621G	possibly damaging	Het
Slf1	A	T	13: 77,274,751 (GRCm39)	L28*	probably null	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Sorcs2	G	A	5: 36,554,897 (GRCm39)		probably benign	Het
Tacc2	T	C	7: 130,353,555 (GRCm39)		probably benign	Het
Tas2r140	A	G	6: 133,032,290 (GRCm39)	V156A	possibly damaging	Het
Terf2ip	C	A	8: 112,744,796 (GRCm39)	T371K	possibly damaging	Het
Tifa	C	T	3: 127,590,537 (GRCm39)	L103F	probably damaging	Het
Tmco3	A	G	8: 13,342,037 (GRCm39)	N104D	probably damaging	Het
Tmem259	T	A	10: 79,814,797 (GRCm39)	D240V	probably damaging	Het
Trim60	C	T	8: 65,453,700 (GRCm39)	R183H	probably benign	Het
Trps1	T	C	15: 50,528,139 (GRCm39)	N725D	probably damaging	Het
Ttn	C	T	2: 76,645,150 (GRCm39)	V12902M	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Unc79	A	G	12: 103,079,150 (GRCm39)	K1772E	probably damaging	Het
Vwde	C	T	6: 13,193,125 (GRCm39)	V405I	probably benign	Het
Wdr18	T	A	10: 79,802,242 (GRCm39)	D290E	probably damaging	Het
Wwc2	G	A	8: 48,353,756 (GRCm39)	A126V	probably benign	Het
Zfp882	A	T	8: 72,667,367 (GRCm39)	I105F	possibly damaging	Het
Zfp942	A	T	17: 22,147,553 (GRCm39)	C359S	probably benign	Het

Other mutations in Elp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01800:Elp2	APN	18	24,750,548 (GRCm39)	missense	probably benign	0.01
IGL01909:Elp2	APN	18	24,752,576 (GRCm39)	splice site	probably benign
IGL01974:Elp2	APN	18	24,759,260 (GRCm39)	missense	probably damaging	0.99
IGL02243:Elp2	APN	18	24,755,663 (GRCm39)	missense	probably benign	0.11
IGL03049:Elp2	APN	18	24,764,516 (GRCm39)	missense	probably benign	0.05
IGL03236:Elp2	APN	18	24,755,300 (GRCm39)	splice site	probably benign
IGL03380:Elp2	APN	18	24,755,537 (GRCm39)	missense	probably benign	0.05
Camelid	UTSW	18	24,758,606 (GRCm39)	missense	probably damaging	1.00
PIT4283001:Elp2	UTSW	18	24,755,187 (GRCm39)	missense	probably damaging	1.00
PIT4531001:Elp2	UTSW	18	24,737,170 (GRCm39)	missense	probably damaging	0.99
R0119:Elp2	UTSW	18	24,767,466 (GRCm39)	missense	probably benign	0.03
R0299:Elp2	UTSW	18	24,767,466 (GRCm39)	missense	probably benign	0.03
R0609:Elp2	UTSW	18	24,759,213 (GRCm39)	missense	probably benign
R0671:Elp2	UTSW	18	24,745,499 (GRCm39)	splice site	probably benign
R1531:Elp2	UTSW	18	24,764,461 (GRCm39)	missense	probably benign	0.06
R1658:Elp2	UTSW	18	24,750,470 (GRCm39)	missense	probably benign	0.27
R1673:Elp2	UTSW	18	24,744,983 (GRCm39)	missense	possibly damaging	0.93
R2012:Elp2	UTSW	18	24,764,515 (GRCm39)	missense	probably benign	0.00
R3861:Elp2	UTSW	18	24,739,977 (GRCm39)	missense	probably benign	0.01
R4038:Elp2	UTSW	18	24,767,405 (GRCm39)	missense	probably damaging	1.00
R4396:Elp2	UTSW	18	24,742,707 (GRCm39)	missense	probably damaging	1.00
R4507:Elp2	UTSW	18	24,759,177 (GRCm39)	splice site	probably null
R4901:Elp2	UTSW	18	24,752,542 (GRCm39)	missense	probably damaging	1.00
R5389:Elp2	UTSW	18	24,739,960 (GRCm39)	missense	possibly damaging	0.87
R5511:Elp2	UTSW	18	24,745,507 (GRCm39)	nonsense	probably null
R5633:Elp2	UTSW	18	24,748,267 (GRCm39)	missense	probably damaging	1.00
R5728:Elp2	UTSW	18	24,750,509 (GRCm39)	missense	probably damaging	1.00
R6585:Elp2	UTSW	18	24,758,606 (GRCm39)	missense	probably damaging	1.00
R6855:Elp2	UTSW	18	24,739,934 (GRCm39)	missense	possibly damaging	0.48
R6877:Elp2	UTSW	18	24,768,033 (GRCm39)	missense	probably benign	0.00
R7145:Elp2	UTSW	18	24,737,126 (GRCm39)	missense	probably benign	0.42
R7163:Elp2	UTSW	18	24,747,503 (GRCm39)	missense	probably benign	0.00
R7313:Elp2	UTSW	18	24,742,716 (GRCm39)	missense	probably benign	0.05
R7318:Elp2	UTSW	18	24,739,956 (GRCm39)	missense	probably damaging	1.00
R7403:Elp2	UTSW	18	24,752,542 (GRCm39)	missense	probably damaging	1.00
R7497:Elp2	UTSW	18	24,744,985 (GRCm39)	missense	probably damaging	0.96
R8017:Elp2	UTSW	18	24,739,920 (GRCm39)	missense	possibly damaging	0.93
R8019:Elp2	UTSW	18	24,739,920 (GRCm39)	missense	possibly damaging	0.93
R9069:Elp2	UTSW	18	24,765,833 (GRCm39)	missense	probably benign	0.01
R9402:Elp2	UTSW	18	24,759,220 (GRCm39)	missense	probably benign
R9427:Elp2	UTSW	18	24,755,560 (GRCm39)	missense	probably damaging	1.00
R9461:Elp2	UTSW	18	24,765,869 (GRCm39)	missense	probably damaging	1.00
R9719:Elp2	UTSW	18	24,755,539 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GTTGTGTGAGACCTCCCTAGAGTTTTC -3'
(R):5'- GATCTGTGTCTGATCATGCCCACC -3'

Sequencing Primer
(F):5'- CCGAGACACTACGCTCTTTTAAATG -3'
(R):5'- TTGTCGGAGAGCACTGAACTC -3'

Posted On

2013-05-23