Mutagenetix > Incidental Mutation

Incidental Mutation 'R7073:Ell2'

549058

Institutional Source

Beutler Lab

Gene Symbol

Ell2

Ensembl Gene

ENSMUSG00000001542

Gene Name

elongation factor for RNA polymerase II 2

Synonyms

MMRRC Submission

045169-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7073 (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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	G	13: 81,709,593 (GRCm39)	E1133D	probably damaging	Het
Ankrd13b	A	T	11: 77,363,335 (GRCm39)	D505E	probably benign	Het
Ano1	C	T	7: 144,192,289 (GRCm39)	E361K	probably damaging	Het
Arap3	T	A	18: 38,107,495 (GRCm39)	K1341*	probably null	Het
Arhgef17	A	C	7: 100,579,198 (GRCm39)	Y583*	probably null	Het
Ash1l	G	A	3: 88,892,647 (GRCm39)	E1509K	probably damaging	Het
B430305J03Rik	T	G	3: 61,271,681 (GRCm39)	R21S	unknown	Het
Bbof1	A	G	12: 84,473,609 (GRCm39)	E313G	probably damaging	Het
Catsperb	C	T	12: 101,475,497 (GRCm39)	T347I	probably benign	Het
Ccdc24	G	T	4: 117,729,201 (GRCm39)	A92D	probably damaging	Het
Ccdc63	T	C	5: 122,249,073 (GRCm39)	T419A	probably benign	Het
Ccdc7a	C	T	8: 129,618,866 (GRCm39)	V893I	possibly damaging	Het
Ccdc88b	G	T	19: 6,831,330 (GRCm39)	D537E	probably benign	Het
Cd276	T	C	9: 58,444,615 (GRCm39)	S119G	probably damaging	Het
Cdkn3	T	C	14: 47,004,647 (GRCm39)	Y70H	possibly damaging	Het
Cdo1	G	A	18: 46,861,266 (GRCm39)		probably benign	Het
Cdr2	A	T	7: 120,581,247 (GRCm39)	F10Y	probably damaging	Het
Cep290	A	T	10: 100,374,865 (GRCm39)	K1370N	possibly damaging	Het
Crb1	T	A	1: 139,176,049 (GRCm39)	I645F	probably damaging	Het
Cul7	T	C	17: 46,969,657 (GRCm39)	W975R	probably damaging	Het
Ddx39b	A	C	17: 35,471,826 (GRCm39)	E324A	probably benign	Het
Diaph1	T	G	18: 38,022,867 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,321,318 (GRCm39)	R3917*	probably null	Het
Dnph1	T	A	17: 46,807,815 (GRCm39)	L27Q	probably damaging	Het
Duox2	A	G	2: 122,119,788 (GRCm39)	F880S	probably damaging	Het
Enpep	A	T	3: 129,106,319 (GRCm39)	Y302*	probably null	Het
Ergic2	G	T	6: 148,096,707 (GRCm39)	H186Q	probably damaging	Het
Fam83b	T	C	9: 76,453,031 (GRCm39)	D12G	probably benign	Het
Fbxw16	A	T	9: 109,270,123 (GRCm39)	V206D	probably damaging	Het
Fhod1	A	T	8: 106,063,771 (GRCm39)	V278D	unknown	Het
Gba2	G	C	4: 43,573,753 (GRCm39)	Q180E	probably damaging	Het
Grhl3	G	A	4: 135,300,723 (GRCm39)	L5F	probably benign	Het
H2-T15	A	T	17: 36,369,235 (GRCm39)	C7S	unknown	Het
Ifit1bl1	C	T	19: 34,576,667 (GRCm39)		probably null	Het
Ift57	A	G	16: 49,584,230 (GRCm39)	T413A	probably benign	Het
Itga2	A	G	13: 114,996,149 (GRCm39)	F714S	probably damaging	Het
Jmy	A	G	13: 93,577,841 (GRCm39)	S776P	probably benign	Het
Kbtbd8	G	A	6: 95,098,814 (GRCm39)	A108T	probably damaging	Het
Kpna6	G	A	4: 129,548,139 (GRCm39)	A230V	probably damaging	Het
Lrfn1	C	T	7: 28,159,397 (GRCm39)	L439F	possibly damaging	Het
Lrrc1	T	A	9: 77,375,847 (GRCm39)	I147F	probably benign	Het
Lrrc7	C	T	3: 157,832,884 (GRCm39)	G1425R	probably damaging	Het
Madd	T	A	2: 90,992,854 (GRCm39)	I1022F	probably damaging	Het
Map2k2	A	T	10: 80,942,017 (GRCm39)	T13S	probably benign	Het
Mdc1	G	A	17: 36,164,960 (GRCm39)	V1459I	probably benign	Het
Mdh1b	G	A	1: 63,760,719 (GRCm39)	T114M	probably damaging	Het
Mfsd2a	T	C	4: 122,845,088 (GRCm39)	I208V	possibly damaging	Het
Mmrn1	T	A	6: 60,965,411 (GRCm39)	D1147E	probably damaging	Het
Nbeal2	T	A	9: 110,455,177 (GRCm39)	I2574F	probably damaging	Het
Nr1d1	T	G	11: 98,662,892 (GRCm39)	S34R	probably damaging	Het
Nr3c1	A	T	18: 39,619,449 (GRCm39)	D279E	probably benign	Het
Nrde2	T	C	12: 100,098,747 (GRCm39)	D640G	probably benign	Het
Odf4	A	G	11: 68,817,514 (GRCm39)	L58P	probably damaging	Het
Or4k41	A	T	2: 111,279,631 (GRCm39)	I49F	probably benign	Het
Or4p22	A	T	2: 88,317,651 (GRCm39)	I192F	probably benign	Het
Otud6b	A	C	4: 14,811,743 (GRCm39)	M300R	probably damaging	Het
Pamr1	T	A	2: 102,471,280 (GRCm39)	D534E	probably benign	Het
Pcdh7	T	A	5: 57,878,299 (GRCm39)	V618E	probably benign	Het
Pcgf6	A	C	19: 47,031,226 (GRCm39)	N266K	possibly damaging	Het
Plcz1	A	T	6: 139,968,849 (GRCm39)	Y196*	probably null	Het
Plxna1	A	T	6: 89,334,311 (GRCm39)	L106Q	probably damaging	Het
Qrich2	G	A	11: 116,337,701 (GRCm39)	A184V	probably damaging	Het
Rimkla	A	G	4: 119,325,275 (GRCm39)	L378S	probably benign	Het
Rufy1	G	T	11: 50,295,290 (GRCm39)	H472Q	probably benign	Het
Samd7	T	A	3: 30,810,631 (GRCm39)	M216K	probably benign	Het
Samd9l	A	T	6: 3,375,856 (GRCm39)	Y468*	probably null	Het
Scn2a	T	G	2: 65,558,787 (GRCm39)	L1194R	probably benign	Het
Sgo2a	T	A	1: 58,056,944 (GRCm39)	S1043T	possibly damaging	Het
Slc6a17	G	T	3: 107,378,755 (GRCm39)	H642Q	probably benign	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
St6galnac3	T	A	3: 153,117,274 (GRCm39)	T150S	possibly damaging	Het
Strip2	T	A	6: 29,941,911 (GRCm39)	I627N	possibly damaging	Het
Sv2c	A	T	13: 96,224,758 (GRCm39)	C184S	probably damaging	Het
Tm7sf2	A	T	19: 6,116,527 (GRCm39)		probably null	Het
Ttc28	T	C	5: 111,371,282 (GRCm39)	I608T	possibly damaging	Het
Vmn1r183	T	G	7: 23,754,926 (GRCm39)	L243R	probably damaging	Het
Vmn1r68	T	C	7: 10,261,778 (GRCm39)	T107A	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Zfp516	T	A	18: 83,006,325 (GRCm39)		probably null	Het
Zpbp2	A	G	11: 98,443,335 (GRCm39)	D56G	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
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
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'- GGTAAACATATGAAGCAACCTGAGG -3'
(R):5'- TCGTTTCCACCTCAACAGTCAAAC -3'

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

Posted On

2019-05-15