Mutagenetix > Incidental Mutation

Incidental Mutation 'R7403:Elp2'

574379

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

045485-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R7403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24737018-24771887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24752542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 365 (H365R)

Ref Sequence

ENSEMBL: ENSMUSP00000025120 (fasta)

Gene Model

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

AlphaFold

Q91WG4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025120
AA Change: H365R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025120
Gene: ENSMUSG00000024271
AA Change: H365R

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

Coding Region Coverage

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

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl2	G	A	10: 83,450,059 (GRCm39)	A271V	probably benign	Het
Brpf3	C	T	17: 29,040,330 (GRCm39)	T917I	probably benign	Het
Camta1	G	A	4: 151,537,752 (GRCm39)	Q143*	probably null	Het
Cd3e	C	A	9: 44,913,590 (GRCm39)	E48D	probably benign	Het
Clca3b	A	G	3: 144,529,259 (GRCm39)	L805P	probably benign	Het
Crispld1	A	G	1: 17,817,820 (GRCm39)	Y241C	probably damaging	Het
Ddx43	T	G	9: 78,321,133 (GRCm39)	N380K	probably damaging	Het
Dtl	A	T	1: 191,295,285 (GRCm39)	V155E	probably damaging	Het
Eif1ad19	G	T	12: 87,740,314 (GRCm39)	Q82K	probably benign	Het
Elp1	A	T	4: 56,778,994 (GRCm39)	C608S	probably damaging	Het
Fam78a	T	C	2: 31,959,627 (GRCm39)	N161S	probably damaging	Het
Far2	T	C	6: 148,060,475 (GRCm39)	I276T	possibly damaging	Het
Frem3	T	C	8: 81,342,774 (GRCm39)	L1689P	probably damaging	Het
Gak	T	C	5: 108,761,401 (GRCm39)	K210R	probably benign	Het
Gna14	G	T	19: 16,576,445 (GRCm39)	D151Y		Het
Hdhd2	A	G	18: 77,042,736 (GRCm39)	D55G	probably benign	Het
Hycc2	A	T	1: 58,587,861 (GRCm39)	D117E	possibly damaging	Het
Ifna5	A	G	4: 88,754,110 (GRCm39)	N117D	probably benign	Het
Il16	T	A	7: 83,319,343 (GRCm39)	T383S	probably damaging	Het
Il36rn	T	C	2: 24,171,214 (GRCm39)	F101L	probably damaging	Het
Ino80d	A	G	1: 63,101,378 (GRCm39)	V416A	possibly damaging	Het
Ints6	T	C	14: 62,945,104 (GRCm39)	R409G	possibly damaging	Het
Itgb5	G	T	16: 33,723,163 (GRCm39)		probably null	Het
Itprid1	T	A	6: 55,953,399 (GRCm39)	L905*	probably null	Het
Kcnq3	T	A	15: 65,874,066 (GRCm39)	R561W	probably damaging	Het
Lipo4	C	T	19: 33,480,679 (GRCm39)	E230K	possibly damaging	Het
Lrrc7	A	T	3: 157,854,311 (GRCm39)	L1299*	probably null	Het
Mcm3ap	T	C	10: 76,318,657 (GRCm39)		probably null	Het
Mok	A	T	12: 110,781,563 (GRCm39)		probably null	Het
Mylk2	T	A	2: 152,759,261 (GRCm39)	V344E	probably damaging	Het
Oacyl	T	C	18: 65,870,966 (GRCm39)	V389A	probably benign	Het
Oplah	T	C	15: 76,189,209 (GRCm39)	D278G	probably benign	Het
Or1j8	T	C	2: 36,192,342 (GRCm39)	F264L	probably benign	Het
Or8s5	T	C	15: 98,238,000 (GRCm39)	Y290C	probably damaging	Het
Padi3	T	C	4: 140,527,430 (GRCm39)	N124D	probably benign	Het
Parp3	T	C	9: 106,352,052 (GRCm39)	S107G	probably benign	Het
Pcdhb18	G	A	18: 37,624,950 (GRCm39)	G760D	probably benign	Het
Plekhh1	G	A	12: 79,087,351 (GRCm39)	W13*	probably null	Het
Poglut3	T	A	9: 53,301,741 (GRCm39)	V131E	probably damaging	Het
Pou2f1	C	T	1: 165,738,955 (GRCm39)	A166T	unknown	Het
Ppp1r10	C	T	17: 36,240,326 (GRCm39)	P539S	probably benign	Het
Prdm11	T	C	2: 92,817,036 (GRCm39)	T310A	probably benign	Het
Rbm25	A	G	12: 83,722,908 (GRCm39)	Y777C	probably damaging	Het
Relt	A	T	7: 100,500,655 (GRCm39)	C72S	probably damaging	Het
Rhag	T	A	17: 41,145,549 (GRCm39)	I334N	probably damaging	Het
Rhbdf2	A	C	11: 116,491,245 (GRCm39)	L630R	probably damaging	Het
Rnps1	T	C	17: 24,644,061 (GRCm39)	S274P	unknown	Het
Rtkn2	A	G	10: 67,841,466 (GRCm39)	I205V	probably benign	Het
Ryr1	A	T	7: 28,713,292 (GRCm39)	V4690E	probably benign	Het
Secisbp2l	T	C	2: 125,602,199 (GRCm39)	Y387C	possibly damaging	Het
Sema3d	A	T	5: 12,547,551 (GRCm39)	I158F	probably damaging	Het
Slc17a1	A	G	13: 24,058,690 (GRCm39)	N48S	probably benign	Het
Slc2a1	G	A	4: 118,989,752 (GRCm39)	G130S	probably damaging	Het
Slc6a3	T	C	13: 73,710,546 (GRCm39)		probably null	Het
Snx27	A	T	3: 94,436,233 (GRCm39)	S261T	probably damaging	Het
Spag17	A	T	3: 99,846,691 (GRCm39)	I72F	possibly damaging	Het
Spink6	T	G	18: 44,204,564 (GRCm39)	L10R	unknown	Het
Swt1	G	A	1: 151,264,444 (GRCm39)	T690I	probably benign	Het
Syne2	G	A	12: 75,962,020 (GRCm39)	E729K	not run	Het
Synj2	C	T	17: 6,088,005 (GRCm39)	T1352M	possibly damaging	Het
Taar4	G	A	10: 23,836,957 (GRCm39)	G189D	probably damaging	Het
Thsd4	T	C	9: 59,964,170 (GRCm39)	N441D	probably damaging	Het
Tm9sf2	A	G	14: 122,378,640 (GRCm39)	D248G	probably benign	Het
Tmem69	A	T	4: 116,410,664 (GRCm39)	L102Q	probably damaging	Het
Tshr	A	G	12: 91,464,548 (GRCm39)	Y98C	probably damaging	Het
Tspan1	A	G	4: 116,020,219 (GRCm39)	V230A	probably benign	Het
Upk3a	T	C	15: 84,903,709 (GRCm39)	V136A	possibly damaging	Het
Ush2a	T	A	1: 188,365,924 (GRCm39)	N2259K	probably damaging	Het
Usp24	A	G	4: 106,264,232 (GRCm39)	D1721G	possibly damaging	Het
Vldlr	T	A	19: 27,213,674 (GRCm39)	C120*	probably null	Het
Vmn2r23	A	T	6: 123,681,538 (GRCm39)	I149L	probably benign	Het
Vps8	A	T	16: 21,253,722 (GRCm39)	E21V	possibly damaging	Het
Wdr35	A	G	12: 9,062,685 (GRCm39)	I635V	probably damaging	Het
Zfp955a	T	C	17: 33,462,720 (GRCm39)	D58G	probably benign	Het
Zkscan5	A	G	5: 145,155,403 (GRCm39)	Q358R	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
R0244:Elp2	UTSW	18	24,764,528 (GRCm39)	missense	possibly damaging	0.81
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
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'- GAACTGTAACTTACCCTCTAGACTC -3'
(R):5'- CATTCAATACTGCCGCACTGC -3'

Sequencing Primer
(F):5'- GACTCCTTTTCTAGTGTGAGAAATG -3'
(R):5'- GCCGCACTGCTATACAACTCTG -3'

Posted On

2019-09-13