Mutagenetix > Incidental Mutation

Incidental Mutation 'R7074:Ell2'

549119

Institutional Source

Beutler Lab

Gene Symbol

Ell2

Ensembl Gene

ENSMUSG00000001542

Gene Name

elongation factor for RNA polymerase II 2

Synonyms

MMRRC Submission

045242-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7074 (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: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,340,433 (GRCm39)	I53L	probably benign	Het
Acss2	T	C	2: 155,363,961 (GRCm39)	L80P	possibly damaging	Het
Adam3	A	T	8: 25,184,363 (GRCm39)	F546I	probably benign	Het
Adtrp	A	T	13: 41,981,617 (GRCm39)		probably null	Het
Anapc1	G	T	2: 128,520,194 (GRCm39)	P208T	probably damaging	Het
Ankrd33	A	G	15: 101,017,430 (GRCm39)	K281R	probably benign	Het
Bcl11b	A	G	12: 107,955,766 (GRCm39)	S128P	probably benign	Het
Ccdc57	T	C	11: 120,794,200 (GRCm39)	K265E	possibly damaging	Het
Cep72	A	G	13: 74,199,699 (GRCm39)	C244R	probably benign	Het
Cope	A	G	8: 70,765,537 (GRCm39)	Q303R	probably benign	Het
Cpd	T	A	11: 76,704,420 (GRCm39)	N398I	probably damaging	Het
Cplx1	C	T	5: 108,696,393 (GRCm39)		probably null	Het
Dixdc1	T	A	9: 50,601,214 (GRCm39)	E344D	possibly damaging	Het
Dock7	A	T	4: 98,833,445 (GRCm39)	F1951I	unknown	Het
Faap24	A	T	7: 35,094,527 (GRCm39)	I91K	possibly damaging	Het
Fubp3	T	C	2: 31,485,306 (GRCm39)	S107P	probably damaging	Het
Gas2l2	T	A	11: 83,313,893 (GRCm39)	Q473L	probably benign	Het
Ghr	A	T	15: 3,362,873 (GRCm39)	Y200N	probably damaging	Het
Gm4950	G	A	18: 51,998,521 (GRCm39)	Q145*	probably null	Het
Gm826	C	T	2: 160,153,810 (GRCm39)	V78I	unknown	Het
Gnas	G	A	2: 174,126,842 (GRCm39)	E126K	probably damaging	Het
Grip2	A	T	6: 91,761,689 (GRCm39)	V235E	probably benign	Het
Hmgcl	A	G	4: 135,681,178 (GRCm39)	H88R	probably benign	Het
Htr7	A	G	19: 36,034,283 (GRCm39)	V124A	probably damaging	Het
Igf2r	T	A	17: 12,933,003 (GRCm39)	I840F	possibly damaging	Het
Ints8	T	C	4: 11,204,574 (GRCm39)	I961V	possibly damaging	Het
Jmy	A	T	13: 93,590,439 (GRCm39)	S555T	probably benign	Het
Klk1b27	G	A	7: 43,705,977 (GRCm39)	G227S	probably damaging	Het
Lao1	A	C	4: 118,825,382 (GRCm39)	T401P	probably damaging	Het
Lrwd1	C	T	5: 136,152,511 (GRCm39)	V547I	probably benign	Het
Mttp	C	A	3: 137,813,034 (GRCm39)	R532L	possibly damaging	Het
Muc16	T	C	9: 18,566,946 (GRCm39)	T1858A	unknown	Het
Myo18a	T	A	11: 77,733,387 (GRCm39)	D1409E	probably benign	Het
Ncor2	T	A	5: 125,126,430 (GRCm39)	R554*	probably null	Het
Or14j6	T	A	17: 38,214,718 (GRCm39)	Y94N	possibly damaging	Het
Or1e1b-ps1	A	T	11: 73,845,975 (GRCm39)	H153L	probably benign	Het
Or2b11	T	C	11: 59,461,835 (GRCm39)	T244A	probably damaging	Het
Or2l13b	T	A	16: 19,348,855 (GRCm39)	I272F	possibly damaging	Het
Or52b1	A	G	7: 104,978,475 (GRCm39)	M308T	probably benign	Het
Prkar2b	A	G	12: 32,022,147 (GRCm39)	Y213H	probably damaging	Het
Prkd3	T	A	17: 79,282,236 (GRCm39)	K306*	probably null	Het
Psd2	A	G	18: 36,143,737 (GRCm39)	E681G	probably benign	Het
Sel1l2	T	A	2: 140,105,362 (GRCm39)	N276I	probably damaging	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
Smyd1	A	G	6: 71,214,359 (GRCm39)	V214A	probably damaging	Het
Spag5	T	C	11: 78,195,868 (GRCm39)		probably null	Het
Trem3	C	T	17: 48,556,909 (GRCm39)	R127W	probably damaging	Het
Ttn	G	A	2: 76,748,425 (GRCm39)	T4208I	probably benign	Het
Tubgcp6	A	G	15: 89,004,839 (GRCm39)	F260S	probably damaging	Het
Vmn1r51	A	T	6: 90,106,654 (GRCm39)	D190V	probably benign	Het
Zc3h14	A	G	12: 98,724,859 (GRCm39)	I174V	possibly damaging	Het
Zfp423	G	A	8: 88,509,060 (GRCm39)	T428I	probably benign	Het
Zfp608	T	A	18: 55,030,454 (GRCm39)	N1162I	possibly damaging	Het
Zmym5	T	C	14: 57,042,255 (GRCm39)	M8V	probably benign	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
R6984: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
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'- AAGGTAAACATATGAAGCAACCTG -3'
(R):5'- GTTTCCACCTCAACAGTCAAACA -3'

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

Posted On

2019-05-15