Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Ell2'

85748

Institutional Source

Beutler Lab

Gene Symbol

Ell2

Ensembl Gene

ENSMUSG00000001542

Gene Name

elongation factor RNA polymerase II 2

Synonyms

MMRRC Submission

039164-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75706757-75772364 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 75746419 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001583] [ENSMUST00000220572] [ENSMUST00000222194] [ENSMUST00000222853] [ENSMUST00000223535]

AlphaFold

Q3UKU1

Predicted Effect

probably benign
Transcript: ENSMUST00000001583

SMART Domains

Protein: ENSMUSP00000001583
Gene: ENSMUSG00000001542

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

noncoding transcript
Transcript: ENSMUST00000221432

Predicted Effect

probably benign
Transcript: ENSMUST00000222194

Predicted Effect

probably benign
Transcript: ENSMUST00000222853

Predicted Effect

probably benign
Transcript: ENSMUST00000222892

Predicted Effect

probably benign
Transcript: ENSMUST00000223535

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,611,762	I358S	probably benign	Het
9130230L23Rik	T	C	5: 65,988,355	T138A	unknown	Het
Abi3bp	T	C	16: 56,654,081		probably null	Het
Alpk3	A	T	7: 81,078,600	M493L	probably benign	Het
Bace2	C	T	16: 97,356,860	A20V	unknown	Het
Bms1	T	C	6: 118,405,221	D452G	probably benign	Het
Ccdc187	T	C	2: 26,294,377	T3A	probably damaging	Het
Ctu2	T	C	8: 122,481,499	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,835,541	K60E	probably benign	Het
Cyp4f13	T	C	17: 32,925,568	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,399,566	T485M	probably damaging	Het
Dsp	C	T	13: 38,183,106		probably benign	Het
Eml2	A	T	7: 19,179,762	Y168F	probably benign	Het
Ep400	C	T	5: 110,735,522		probably benign	Het
Ercc4	C	A	16: 13,130,197	A336D	probably benign	Het
Fam189a2	T	A	19: 23,973,575	R547S	probably benign	Het
Fat4	T	C	3: 38,983,086	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,613,865	W108R	probably damaging	Het
Gtse1	C	T	15: 85,862,307	P108L	probably damaging	Het
Hfm1	A	T	5: 106,878,830	F140I	probably damaging	Het
Hyal2	T	A	9: 107,572,246	H400Q	probably benign	Het
Igfn1	A	G	1: 135,974,847	Y371H	probably damaging	Het
Iltifb	T	G	10: 118,290,151	*180C	probably null	Het
Kdm2b	T	C	5: 122,961,541	T118A	possibly damaging	Het
Lama5	A	T	2: 180,179,764		probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lmo7	C	T	14: 101,920,474		probably benign	Het
Lrrc37a	G	T	11: 103,497,631	P2323T	unknown	Het
Lrrc38	A	G	4: 143,350,518	Y117C	probably benign	Het
Myo1e	T	C	9: 70,383,999	V1024A	probably benign	Het
Myrfl	T	C	10: 116,776,732	N904S	possibly damaging	Het
Olfr1015	T	C	2: 85,786,093	V194A	possibly damaging	Het
Olfr103	T	A	17: 37,337,026	I69F	probably damaging	Het
Olfr1297	T	C	2: 111,621,345	H243R	probably damaging	Het
Pld4	A	T	12: 112,763,442	I53F	probably benign	Het
Plekhg4	T	A	8: 105,381,677	C1117*	probably null	Het
Prss39	G	A	1: 34,502,086	E224K	probably benign	Het
Psme1	G	T	14: 55,580,650	G149V	probably damaging	Het
Soat2	T	A	15: 102,153,138		probably null	Het
Stab2	C	T	10: 86,907,133		probably null	Het
Tcf7l2	A	G	19: 55,743,195	T127A	probably benign	Het
Tcp1	T	C	17: 12,923,204		probably benign	Het
Thbs4	G	A	13: 92,762,926		probably benign	Het
Tmf1	T	C	6: 97,173,300	D482G	probably damaging	Het
Trim66	G	T	7: 109,472,319	P591H	probably damaging	Het
Umodl1	T	C	17: 30,959,373	S108P	probably benign	Het
Unc79	T	G	12: 103,074,853	M715R	probably benign	Het
Usp34	C	A	11: 23,433,175		probably benign	Het
Utrn	T	G	10: 12,455,566		probably null	Het
Zfp830	T	C	11: 82,765,339		probably null	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
PIT4469001:Ell2	UTSW	13	75761892	missense	probably damaging	0.99
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
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'- GGGATCACTTGAACAACCAGCAAGG -3'
(R):5'- AATGTCTAGTTTCTAGCAGCCTGTGC -3'

Sequencing Primer
(F):5'- GGCAGAACTGCATAAGCAC -3'
(R):5'- cgggagtcaggaggcag -3'

Posted On

2013-11-18