Mutagenetix > Incidental Mutation

Incidental Mutation 'R4206:Ell2'

318934

Institutional Source

Beutler Lab

Gene Symbol

Ell2

Ensembl Gene

ENSMUSG00000001542

Gene Name

elongation factor RNA polymerase II 2

Synonyms

MMRRC Submission

041035-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4206 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75706757-75772364 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75761948 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 139 (D139G)

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: D271G

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

SMART Domains

Protein: ENSMUSP00000001583
Gene: ENSMUSG00000001542
AA Change: D271G

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: ENSMUST00000221979

Predicted Effect

probably benign
Transcript: ENSMUST00000222194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222564

Predicted Effect

probably damaging
Transcript: ENSMUST00000222853
AA Change: D139G

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

Predicted Effect

unknown
Transcript: ENSMUST00000222892
AA Change: D131G

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,473,515	K81R	probably benign	Het
Acacb	T	C	5: 114,213,651	F1150L	probably benign	Het
Acat3	A	G	17: 12,927,386	Y237H	possibly damaging	Het
Arfgap3	T	C	15: 83,322,668	T240A	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Cabin1	T	C	10: 75,754,841	S23G	possibly damaging	Het
Clasp1	A	G	1: 118,578,906	N949S	probably damaging	Het
Csrp1	T	G	1: 135,745,327	C61G	probably damaging	Het
Dgka	A	T	10: 128,721,195	L637Q	probably damaging	Het
Dst	G	A	1: 34,212,247	R1801H	probably damaging	Het
Edil3	T	C	13: 89,180,278	S284P	probably damaging	Het
Eif2d	A	G	1: 131,154,363	Y64C	probably damaging	Het
Fam187a	A	G	11: 102,886,212	R281G	probably damaging	Het
Gin1	A	G	1: 97,792,420	D380G	possibly damaging	Het
Gpr149	T	G	3: 62,604,503	D25A	possibly damaging	Het
Gyg	A	G	3: 20,152,737	S90P	probably benign	Het
Hpx	C	T	7: 105,595,147	M190I	probably null	Het
Irf2bpl	C	T	12: 86,883,036	V288I	probably benign	Het
Lyst	A	G	13: 13,635,989	H748R	probably benign	Het
Mmrn1	G	A	6: 60,958,180	G220D	probably damaging	Het
Mpdz	A	T	4: 81,381,762	M333K	probably benign	Het
Muc5ac	C	T	7: 141,817,110	S2556F	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Ntsr1	A	G	2: 180,500,752	D112G	probably damaging	Het
Olfr1410	A	C	1: 92,608,595	T253P	possibly damaging	Het
Olfr657	T	A	7: 104,636,149	N158K	possibly damaging	Het
Olfr8	T	C	10: 78,955,283	F26S	probably benign	Het
Parg	A	G	14: 32,254,536	K178R	probably benign	Het
Pde8b	C	A	13: 95,222,545	C90F	probably benign	Het
Pld1	G	A	3: 28,120,783	V857I	probably benign	Het
Rad54l2	A	C	9: 106,717,795	V321G	probably damaging	Het
Rcn2	A	G	9: 56,045,207	Y112C	possibly damaging	Het
Rnf123	A	T	9: 108,063,963	D639E	probably benign	Het
Rufy2	C	T	10: 63,004,772	Q441*	probably null	Het
Scgb2b12	T	C	7: 32,326,638	Y43C	probably damaging	Het
Scrn3	T	A	2: 73,319,501		probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc22a8	T	C	19: 8,608,233	S321P	probably benign	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Tex2	A	G	11: 106,567,572		probably benign	Het
Tmem2	G	T	19: 21,842,115	R1090L	probably damaging	Het
Trip13	A	G	13: 73,932,890	I119T	probably benign	Het
Tsku	C	T	7: 98,352,998	R42H	probably damaging	Het
Ttn	A	G	2: 76,772,567	I16691T	possibly damaging	Het
Tyr	A	G	7: 87,429,068	L528P	possibly damaging	Het
Ubxn2b	T	C	4: 6,204,565	V142A	probably damaging	Het
Uggt2	C	T	14: 119,049,262	D221N	probably damaging	Het
Wnt4	A	G	4: 137,296,343	K207R	possibly damaging	Het
Zfp608	T	C	18: 54,988,195	R107G	probably 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
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
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
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'- TGTTAAGGTAAACATATGAAGCAACC -3'
(R):5'- TTGTCTAAGTAATAAAGAGGACTCTGA -3'

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

Posted On

2015-06-10