Mutagenetix > Incidental Mutation

Incidental Mutation 'R6984:Ell2'

542860

Institutional Source

Beutler Lab

Gene Symbol

Ell2

Ensembl Gene

ENSMUSG00000001542

Gene Name

elongation factor for RNA polymerase II 2

Synonyms

MMRRC Submission

045091-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6984 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75855603-75920480 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75910006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 119 (L119M)

Ref Sequence

ENSEMBL: ENSMUSP00000152427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001583] [ENSMUST00000220572] [ENSMUST00000222194] [ENSMUST00000222853]

AlphaFold

Q3UKU1

Predicted Effect

probably damaging
Transcript: ENSMUST00000001583
AA Change: L251M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000001583
Gene: ENSMUSG00000001542
AA Change: L251M

Domain	Start	End	E-Value	Type
Pfam:ELL	11	291	2.4e-108	PFAM
low complexity region	362	401	N/A	INTRINSIC
low complexity region	451	476	N/A	INTRINSIC
Pfam:Occludin_ELL	531	632	2e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220572

Predicted Effect

probably benign
Transcript: ENSMUST00000222194

Predicted Effect

probably damaging
Transcript: ENSMUST00000222853
AA Change: L119M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,937 (GRCm39)	V676A	probably benign	Het
Abcb5	A	G	12: 118,891,012 (GRCm39)	M495T	possibly damaging	Het
Aktip	A	T	8: 91,853,346 (GRCm39)	F124I	probably damaging	Het
Alpk2	C	A	18: 65,438,749 (GRCm39)	Q1348H	possibly damaging	Het
Apol11b	T	C	15: 77,519,546 (GRCm39)	D178G	probably benign	Het
Asb15	A	T	6: 24,566,336 (GRCm39)	I430F	probably benign	Het
Chd2	A	C	7: 73,134,159 (GRCm39)	Y729*	probably null	Het
Cpb2	T	C	14: 75,502,898 (GRCm39)	V159A	possibly damaging	Het
Csf2rb	A	G	15: 78,229,719 (GRCm39)	S429G	probably damaging	Het
Ctsw	C	T	19: 5,516,646 (GRCm39)	R133H	probably damaging	Het
Dhx30	A	G	9: 109,920,485 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,958,712 (GRCm39)	G2185R	probably damaging	Het
Enthd1	A	T	15: 80,444,309 (GRCm39)	I82N	probably damaging	Het
Epx	T	A	11: 87,759,424 (GRCm39)	D555V	probably damaging	Het
Fhdc1	T	G	3: 84,351,823 (GRCm39)	D1134A	possibly damaging	Het
Fip1l1	T	A	5: 74,702,734 (GRCm39)	V82D	probably damaging	Het
Fn1	A	T	1: 71,665,238 (GRCm39)	F960I	probably damaging	Het
Gsdmc2	A	T	15: 63,696,898 (GRCm39)	Y424*	probably null	Het
Hsd3b7	T	A	7: 127,400,717 (GRCm39)	I57N	probably damaging	Het
Ighv10-1	A	T	12: 114,442,702 (GRCm39)	D94E	possibly damaging	Het
Ighv3-3	A	G	12: 114,160,350 (GRCm39)	V20A	possibly damaging	Het
Kcnh3	G	T	15: 99,126,433 (GRCm39)	C220F	probably benign	Het
Kctd16	G	A	18: 40,390,101 (GRCm39)		probably benign	Het
L3mbtl3	T	C	10: 26,158,753 (GRCm39)	K632E	unknown	Het
Lama1	G	A	17: 68,086,107 (GRCm39)	V1449M		Het
Lgr6	A	G	1: 134,915,740 (GRCm39)	I336T	possibly damaging	Het
Lrp1b	A	C	2: 40,712,640 (GRCm39)	D3117E	probably damaging	Het
Lrrc4b	A	T	7: 44,110,722 (GRCm39)	E198V	possibly damaging	Het
Map2	A	T	1: 66,454,395 (GRCm39)	D1095V	possibly damaging	Het
Mapk8ip1	A	T	2: 92,217,072 (GRCm39)	S417T	probably damaging	Het
Med24	A	G	11: 98,609,368 (GRCm39)	V94A	possibly damaging	Het
Megf11	A	G	9: 64,593,734 (GRCm39)	I637V	probably benign	Het
Mpp7	C	T	18: 7,441,623 (GRCm39)	G182D	probably damaging	Het
Myh15	G	A	16: 48,930,775 (GRCm39)	G583D	probably damaging	Het
Naa15	A	G	3: 51,380,021 (GRCm39)	T750A	probably benign	Het
Or10d5b	C	T	9: 39,886,030 (GRCm39)	V30I	unknown	Het
Or10v5	T	A	19: 11,805,668 (GRCm39)	T241S	probably damaging	Het
Or1e30	G	A	11: 73,678,603 (GRCm39)	V280M	possibly damaging	Het
Pgm1	A	T	4: 99,786,851 (GRCm39)	Q30L	probably benign	Het
Pi4kb	C	T	3: 94,904,245 (GRCm39)	R238C	probably damaging	Het
Plec	T	C	15: 76,059,527 (GRCm39)	E3497G	probably damaging	Het
Plpp4	C	T	7: 128,992,616 (GRCm39)	A218V	possibly damaging	Het
Plxnc1	G	A	10: 94,667,392 (GRCm39)	A1094V	probably damaging	Het
Pom121l2	A	T	13: 22,166,191 (GRCm39)	D154V	probably benign	Het
Prrt4	G	T	6: 29,171,429 (GRCm39)	P341Q	probably benign	Het
Psd3	A	G	8: 68,270,697 (GRCm39)	V21A	possibly damaging	Het
Rhot1	T	A	11: 80,124,310 (GRCm39)	C157*	probably null	Het
Rnase9	C	T	14: 51,276,673 (GRCm39)	V102M	probably benign	Het
Rpgrip1l	A	C	8: 91,987,426 (GRCm39)	M877R	probably benign	Het
Ryr3	T	C	2: 112,705,436 (GRCm39)	Y806C	probably damaging	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
Sympk	A	G	7: 18,771,968 (GRCm39)	D344G	probably benign	Het
Tcf12	G	A	9: 71,914,041 (GRCm39)	Q76*	probably null	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Ttc19	A	G	11: 62,204,863 (GRCm39)	Y318C	probably damaging	Het
Vmn2r17	T	A	5: 109,600,533 (GRCm39)	D610E	probably benign	Het
Wdr24	A	G	17: 26,047,209 (GRCm39)	T701A	possibly damaging	Het
Zfp268	T	C	4: 145,347,186 (GRCm39)	L30P	probably damaging	Het

Other mutations in Ell2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Ell2	APN	13	75,904,409 (GRCm39)	missense	probably damaging	1.00
IGL01315:Ell2	APN	13	75,910,351 (GRCm39)	unclassified	probably benign
IGL01446:Ell2	APN	13	75,910,110 (GRCm39)	missense	probably benign	0.02
IGL02691:Ell2	APN	13	75,904,605 (GRCm39)	missense	probably damaging	0.97
IGL02963:Ell2	APN	13	75,917,762 (GRCm39)	missense	possibly damaging	0.48
IGL03035:Ell2	APN	13	75,911,767 (GRCm39)	nonsense	probably null
enhancement	UTSW	13	75,918,854 (GRCm39)	missense	probably damaging	1.00
stilts	UTSW	13	75,912,105 (GRCm39)	nonsense	probably null
PIT4469001:Ell2	UTSW	13	75,910,011 (GRCm39)	missense	probably damaging	0.99
R0123:Ell2	UTSW	13	75,910,259 (GRCm39)	splice site	probably benign
R0321:Ell2	UTSW	13	75,910,007 (GRCm39)	missense	probably damaging	1.00
R0594:Ell2	UTSW	13	75,898,112 (GRCm39)	missense	probably damaging	1.00
R0892:Ell2	UTSW	13	75,911,758 (GRCm39)	missense	probably damaging	0.97
R1078:Ell2	UTSW	13	75,894,538 (GRCm39)	splice site	probably benign
R1696:Ell2	UTSW	13	75,917,677 (GRCm39)	missense	probably damaging	1.00
R2325:Ell2	UTSW	13	75,917,745 (GRCm39)	missense	probably damaging	1.00
R2886:Ell2	UTSW	13	75,911,904 (GRCm39)	missense	probably damaging	1.00
R3760:Ell2	UTSW	13	75,910,281 (GRCm39)	missense	probably benign	0.37
R4206:Ell2	UTSW	13	75,910,067 (GRCm39)	missense	probably damaging	1.00
R4632:Ell2	UTSW	13	75,917,693 (GRCm39)	missense	possibly damaging	0.84
R5068:Ell2	UTSW	13	75,911,737 (GRCm39)	missense	probably benign	0.00
R6980:Ell2	UTSW	13	75,904,495 (GRCm39)	missense	probably null
R6983:Ell2	UTSW	13	75,910,006 (GRCm39)	missense	probably damaging	1.00
R6986:Ell2	UTSW	13	75,910,006 (GRCm39)	missense	probably damaging	1.00
R7073:Ell2	UTSW	13	75,910,006 (GRCm39)	missense	probably damaging	1.00
R7074:Ell2	UTSW	13	75,910,006 (GRCm39)	missense	probably damaging	1.00
R7473:Ell2	UTSW	13	75,898,154 (GRCm39)	missense	probably damaging	1.00
R7590:Ell2	UTSW	13	75,918,854 (GRCm39)	missense	probably damaging	1.00
R7901:Ell2	UTSW	13	75,912,105 (GRCm39)	nonsense	probably null
R8855:Ell2	UTSW	13	75,917,793 (GRCm39)	missense	probably damaging	1.00
R8866:Ell2	UTSW	13	75,917,793 (GRCm39)	missense	probably damaging	1.00
R9413:Ell2	UTSW	13	75,917,705 (GRCm39)	missense
R9517:Ell2	UTSW	13	75,912,106 (GRCm39)	missense	possibly damaging	0.89
R9581:Ell2	UTSW	13	75,912,148 (GRCm39)	missense	probably benign	0.04
RF018:Ell2	UTSW	13	75,911,727 (GRCm39)	missense	probably damaging	1.00
Z1088:Ell2	UTSW	13	75,909,992 (GRCm39)	critical splice acceptor site	probably benign
Z1176:Ell2	UTSW	13	75,918,808 (GRCm39)	missense	probably damaging	1.00
Z1176:Ell2	UTSW	13	75,904,571 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGTAAACATATGAAGCAACCTGAG -3'
(R):5'- TCGTTTCCACCTCAACAGTCAAA -3'

Sequencing Primer
(F):5'- CTTTATGCACACATGTAGCAGAGG -3'
(R):5'- GTCAAACAACACTTATTTGCACC -3'

Posted On

2018-11-28