Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4469001:Ell2'

555837

Institutional Source

Beutler Lab

Gene Symbol

Ell2

Ensembl Gene

ENSMUSG00000001542

Gene Name

elongation factor RNA polymerase II 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4469001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75706757-75772364 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75761892 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 252 (N252K)

Ref Sequence

ENSEMBL: ENSMUSP00000001583 (fasta)

Gene Model

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

AlphaFold

Q3UKU1

Predicted Effect

probably damaging
Transcript: ENSMUST00000001583
AA Change: N252K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001583
Gene: ENSMUSG00000001542
AA Change: N252K

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: N120K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

Coding Region Coverage

1x: 93.3%
3x: 90.7%
10x: 84.4%
20x: 71.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030408B16Rik	T	C	15: 101,293,271	V6A	probably benign	Het
A630001G21Rik	A	G	1: 85,725,199	F83L	probably benign	Het
Acsm2	T	A	7: 119,578,185	C308S	possibly damaging	Het
Ak3	A	G	19: 29,047,757	S25P	probably damaging	Het
Atp13a2	T	A	4: 140,994,127	V176E	unknown	Het
Bmper	A	T	9: 23,406,549	H488L	probably benign	Het
Cacna1c	A	T	6: 118,595,972	C2084S	unknown	Het
Ccp110	T	A	7: 118,722,377	N418K	probably benign	Het
Ddx17	C	A	15: 79,543,813	G32C	probably damaging	Het
Dusp16	G	A	6: 134,761,152		probably benign	Het
Efl1	T	G	7: 82,658,165	F90V	probably benign	Het
Gdf6	T	C	4: 9,859,569	V217A	probably damaging	Het
Gm6205	T	A	5: 94,682,793	V50E	probably damaging	Het
Hint1	T	A	11: 54,870,070	S112T	unknown	Het
Hist1h1e	A	T	13: 23,622,379	V40E	probably damaging	Het
Kif5c	T	C	2: 49,741,348	V679A	probably benign	Het
Lrrn3	A	T	12: 41,453,018	D433E	probably benign	Het
Mast4	G	A	13: 102,804,718	T277M	probably damaging	Het
Naa11	A	G	5: 97,391,626		probably null	Het
Pcdh18	T	A	3: 49,755,069	H599L	probably benign	Het
Pgc	A	T	17: 47,728,755	K25*	probably null	Het
Psd4	G	A	2: 24,394,294	D57N	probably benign	Het
Pxdn	G	A	12: 30,005,829	R1238Q	probably benign	Het
Spata32	T	C	11: 103,209,827	N38S	probably benign	Het
St5	G	A	7: 109,531,130	A888V	probably damaging	Het
Tpr	A	G	1: 150,403,956	T279A	probably benign	Het
Unc13a	C	A	8: 71,658,314	E418*	probably null	Het
Vmn2r97	C	A	17: 18,929,616	T422K	probably benign	Het
Zfp474	A	T	18: 52,638,719	Q148L	possibly damaging	Het

Other mutations in Ell2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Ell2	APN	13	75756290	missense	probably damaging	1.00
IGL01315:Ell2	APN	13	75762232	unclassified	probably benign
IGL01446:Ell2	APN	13	75761991	missense	probably benign	0.02
IGL02691:Ell2	APN	13	75756486	missense	probably damaging	0.97
IGL02963:Ell2	APN	13	75769643	missense	possibly damaging	0.48
IGL03035:Ell2	APN	13	75763648	nonsense	probably null
enhancement	UTSW	13	75770735	missense	probably damaging	1.00
stilts	UTSW	13	75763986	nonsense	probably null
R0123:Ell2	UTSW	13	75762140	splice site	probably benign
R0321:Ell2	UTSW	13	75761888	missense	probably damaging	1.00
R0594:Ell2	UTSW	13	75749993	missense	probably damaging	1.00
R0892:Ell2	UTSW	13	75763639	missense	probably damaging	0.97
R1078:Ell2	UTSW	13	75746419	splice site	probably benign
R1696:Ell2	UTSW	13	75769558	missense	probably damaging	1.00
R2325:Ell2	UTSW	13	75769626	missense	probably damaging	1.00
R2886:Ell2	UTSW	13	75763785	missense	probably damaging	1.00
R3760:Ell2	UTSW	13	75762162	missense	probably benign	0.37
R4206:Ell2	UTSW	13	75761948	missense	probably damaging	1.00
R4632:Ell2	UTSW	13	75769574	missense	possibly damaging	0.84
R5068:Ell2	UTSW	13	75763618	missense	probably benign	0.00
R6980:Ell2	UTSW	13	75756376	missense	probably null
R6983:Ell2	UTSW	13	75761887	missense	probably damaging	1.00
R6984:Ell2	UTSW	13	75761887	missense	probably damaging	1.00
R6986:Ell2	UTSW	13	75761887	missense	probably damaging	1.00
R7073:Ell2	UTSW	13	75761887	missense	probably damaging	1.00
R7074:Ell2	UTSW	13	75761887	missense	probably damaging	1.00
R7473:Ell2	UTSW	13	75750035	missense	probably damaging	1.00
R7590:Ell2	UTSW	13	75770735	missense	probably damaging	1.00
R7901:Ell2	UTSW	13	75763986	nonsense	probably null
R8855:Ell2	UTSW	13	75769674	missense	probably damaging	1.00
R8866:Ell2	UTSW	13	75769674	missense	probably damaging	1.00
R9413:Ell2	UTSW	13	75769586	missense
R9517:Ell2	UTSW	13	75763987	missense	possibly damaging	0.89
R9581:Ell2	UTSW	13	75764029	missense	probably benign	0.04
RF018:Ell2	UTSW	13	75763608	missense	probably damaging	1.00
Z1088:Ell2	UTSW	13	75761873	critical splice acceptor site	probably benign
Z1176:Ell2	UTSW	13	75756452	missense	probably damaging	0.99
Z1176:Ell2	UTSW	13	75770689	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTAAACATATGAAGCAACCTGA -3'
(R):5'- CTCGTTTCCACCTCAACAGTCAA -3'

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

Posted On

2019-06-07