Mutagenetix > Incidental Mutation

Incidental Mutation 'R7029:Ell'

546182

Institutional Source

Beutler Lab

Gene Symbol

Ell

Ensembl Gene

ENSMUSG00000070002

Gene Name

elongation factor RNA polymerase II

Synonyms

Men, eleven-nineteen lysine-rich leukemia gene, Ell1

MMRRC Submission

045130-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70992345-71045508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71031879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 15 (V15I)

Ref Sequence

ENSEMBL: ENSMUSP00000147325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093454] [ENSMUST00000210155]

AlphaFold

O08856

Predicted Effect

probably damaging
Transcript: ENSMUST00000093454
AA Change: V148I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002
AA Change: V148I

Domain	Start	End	E-Value	Type
Pfam:ELL	6	289	2.2e-107	PFAM
low complexity region	403	416	N/A	INTRINSIC
low complexity region	427	445	N/A	INTRINSIC
low complexity region	447	471	N/A	INTRINSIC
Pfam:Occludin_ELL	494	595	6.4e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000210155
AA Change: V15I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die prior to E6.5 but after implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,841 (GRCm39)	Q271R	probably benign	Het
Abhd4	T	A	14: 54,500,164 (GRCm39)	W63R	probably damaging	Het
Adcy5	A	G	16: 35,120,018 (GRCm39)	M1176V	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Brox	G	A	1: 183,065,750 (GRCm39)	P206L	possibly damaging	Het
Ccn3	A	G	15: 54,611,171 (GRCm39)	D102G	possibly damaging	Het
Def6	A	G	17: 28,444,943 (GRCm39)	K447R	probably benign	Het
Dna2	T	C	10: 62,799,773 (GRCm39)	S726P	probably damaging	Het
Entrep2	T	A	7: 64,409,075 (GRCm39)	T440S	probably benign	Het
Epha3	T	A	16: 63,593,698 (GRCm39)	D130V	probably benign	Het
Gys1	A	G	7: 45,089,008 (GRCm39)	T200A	possibly damaging	Het
Habp4	A	T	13: 64,309,939 (GRCm39)	H47L	probably benign	Het
Iqcn	G	T	8: 71,161,511 (GRCm39)	V235L	possibly damaging	Het
Kcnj10	C	A	1: 172,196,563 (GRCm39)	R26S	probably benign	Het
Klhl1	T	A	14: 96,755,632 (GRCm39)	D41V	probably benign	Het
Lyn	A	G	4: 3,782,996 (GRCm39)	T410A	probably damaging	Het
Mga	A	G	2: 119,754,031 (GRCm39)	T847A	probably damaging	Het
Mrgpra3	G	T	7: 47,239,290 (GRCm39)	T212N	probably benign	Het
Myh4	T	C	11: 67,137,251 (GRCm39)	F491L	probably benign	Het
Neurl4	T	A	11: 69,801,562 (GRCm39)	I1206N	probably damaging	Het
Pcdhb15	T	A	18: 37,608,621 (GRCm39)	W618R	possibly damaging	Het
Pomc	A	G	12: 4,010,146 (GRCm39)	H129R	probably damaging	Het
Ppm1l	C	A	3: 69,460,399 (GRCm39)	H325Q	probably benign	Het
Psme4	A	G	11: 30,722,474 (GRCm39)		probably benign	Het
Reep2	A	G	18: 34,978,342 (GRCm39)	I74V	probably null	Het
Robo2	T	G	16: 73,745,225 (GRCm39)	E850A	probably damaging	Het
Scrn2	T	A	11: 96,921,262 (GRCm39)		probably benign	Het
Sfpq	G	A	4: 126,923,675 (GRCm39)	R673K	probably benign	Het
Sh2d3c	T	C	2: 32,644,581 (GRCm39)	*703R	probably null	Het
Spp1	A	G	5: 104,587,167 (GRCm39)	M85V	probably benign	Het
Srebf1	T	C	11: 60,097,810 (GRCm39)	E98G	probably damaging	Het
Srrm4	T	A	5: 116,582,851 (GRCm39)		probably benign	Het
Ticam1	A	T	17: 56,578,154 (GRCm39)	S314T	possibly damaging	Het
Tie1	T	C	4: 118,341,823 (GRCm39)	I209V	possibly damaging	Het
Vapa	G	A	17: 65,889,586 (GRCm39)	R194*	probably null	Het
Vcan	C	T	13: 89,838,360 (GRCm39)	D2395N	probably damaging	Het
Whamm	A	G	7: 81,241,574 (GRCm39)	H295R	probably benign	Het
Zdhhc14	A	G	17: 5,698,186 (GRCm39)	Y85C	probably damaging	Het
Zfp35	T	A	18: 24,136,583 (GRCm39)	F309Y	probably damaging	Het
Zfp423	C	A	8: 88,414,694 (GRCm39)	C1187F	probably damaging	Het
Zfp874b	T	C	13: 67,622,392 (GRCm39)	Y302C	probably damaging	Het

Other mutations in Ell

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Ell	APN	8	71,031,563 (GRCm39)	missense	probably damaging	1.00
IGL01666:Ell	APN	8	71,038,463 (GRCm39)	missense	probably benign
IGL01738:Ell	APN	8	71,034,331 (GRCm39)	unclassified	probably benign
IGL02032:Ell	APN	8	71,038,651 (GRCm39)	missense	probably benign
PIT4418001:Ell	UTSW	8	71,034,331 (GRCm39)	missense	probably damaging	0.96
R1403:Ell	UTSW	8	71,044,138 (GRCm39)	unclassified	probably benign
R1735:Ell	UTSW	8	71,031,590 (GRCm39)	missense	possibly damaging	0.88
R4164:Ell	UTSW	8	71,034,223 (GRCm39)	missense	probably damaging	1.00
R4705:Ell	UTSW	8	71,031,584 (GRCm39)	missense	possibly damaging	0.92
R5028:Ell	UTSW	8	71,043,349 (GRCm39)	missense	probably damaging	1.00
R5350:Ell	UTSW	8	70,992,439 (GRCm39)	missense	probably damaging	1.00
R5590:Ell	UTSW	8	70,992,357 (GRCm39)	start codon destroyed	possibly damaging	0.59
R5615:Ell	UTSW	8	71,043,382 (GRCm39)	missense	probably benign	0.04
R6333:Ell	UTSW	8	71,044,188 (GRCm39)	missense	probably damaging	1.00
R6490:Ell	UTSW	8	71,025,553 (GRCm39)	missense	probably damaging	0.99
R6834:Ell	UTSW	8	71,031,784 (GRCm39)	missense	probably damaging	1.00
R7162:Ell	UTSW	8	71,031,559 (GRCm39)	missense	possibly damaging	0.82
R7477:Ell	UTSW	8	71,037,868 (GRCm39)	missense	probably benign	0.01
R7702:Ell	UTSW	8	70,992,364 (GRCm39)	missense	possibly damaging	0.73
R8711:Ell	UTSW	8	71,034,331 (GRCm39)	unclassified	probably benign
R9004:Ell	UTSW	8	71,031,604 (GRCm39)	missense	probably damaging	0.98
Z1176:Ell	UTSW	8	71,031,577 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTCGAGAAACACCCTAATG -3'
(R):5'- ATCAGCAAGGCCAAGAGCTG -3'

Sequencing Primer
(F):5'- GGCAAAACTTCCTCTTGTTTTACAG -3'
(R):5'- CAGGGCTCTGTCTCACTTGG -3'

Posted On

2019-05-13