Mutagenetix > Incidental Mutation

Incidental Mutation 'R5028:Ell'

391513

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

042619-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5028 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70992345-71045508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71043349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 494 (Y494C)

Ref Sequence

ENSEMBL: ENSMUSP00000091163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019283] [ENSMUST00000093454] [ENSMUST00000209285] [ENSMUST00000210005] [ENSMUST00000211117]

AlphaFold

O08856

Predicted Effect

probably benign
Transcript: ENSMUST00000019283

SMART Domains

Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139

Domain	Start	End	E-Value	Type
low complexity region	44	54	N/A	INTRINSIC
Pfam:NAD_binding_5	59	491	4.4e-141	PFAM
Pfam:Inos-1-P_synth	307	420	6.3e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000093454
AA Change: Y494C

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

SMART Domains

Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002
AA Change: Y494C

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 benign
Transcript: ENSMUST00000209285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209751

Predicted Effect

probably benign
Transcript: ENSMUST00000210005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210878

Predicted Effect

probably benign
Transcript: ENSMUST00000211117

Predicted Effect

probably benign
Transcript: ENSMUST00000211501

Meta Mutation Damage Score

0.9508

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

97% (62/64)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,104,356 (GRCm39)	S777C	probably damaging	Het
Ano5	T	A	7: 51,187,458 (GRCm39)		probably null	Het
Arhgap17	T	A	7: 122,893,896 (GRCm39)	H508L	probably benign	Het
Arhgap29	T	A	3: 121,803,709 (GRCm39)		probably null	Het
Atp12a	T	C	14: 56,624,435 (GRCm39)	F961S	probably damaging	Het
B4galnt4	C	A	7: 140,647,975 (GRCm39)	P497Q	probably benign	Het
Camsap1	A	G	2: 25,834,568 (GRCm39)	S364P	probably damaging	Het
Ccdc150	C	A	1: 54,302,636 (GRCm39)	D85E	probably benign	Het
Cdc45	A	G	16: 18,613,930 (GRCm39)	Y291H	probably benign	Het
Comp	A	C	8: 70,829,290 (GRCm39)	N289T	probably damaging	Het
Cops3	T	A	11: 59,708,856 (GRCm39)		probably benign	Het
Crybg1	G	A	10: 43,874,208 (GRCm39)	H967Y	possibly damaging	Het
Csmd1	A	T	8: 16,039,090 (GRCm39)	F2423I	probably damaging	Het
Dact1	C	A	12: 71,365,347 (GRCm39)	C709*	probably null	Het
Dcxr	T	G	11: 120,617,273 (GRCm39)	Q90P	probably damaging	Het
Emilin2	T	C	17: 71,581,727 (GRCm39)	E333G	possibly damaging	Het
Eml2	T	C	7: 18,913,372 (GRCm39)		probably null	Het
Fam186b	T	A	15: 99,178,682 (GRCm39)	M215L	probably damaging	Het
Gm17078	T	A	14: 51,848,699 (GRCm39)	R13W	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hspa14	A	G	2: 3,499,206 (GRCm39)	F196S	possibly damaging	Het
Ier5	A	G	1: 154,974,849 (GRCm39)	S110P	possibly damaging	Het
Kif1a	T	A	1: 92,982,049 (GRCm39)	I793F	possibly damaging	Het
Lrrc43	T	C	5: 123,646,176 (GRCm39)	I643T	probably damaging	Het
Map3k19	A	T	1: 127,750,969 (GRCm39)	L794Q	probably benign	Het
Meox2	A	T	12: 37,158,935 (GRCm39)	M36L	probably benign	Het
Mgat5b	T	A	11: 116,875,855 (GRCm39)	L693Q	probably damaging	Het
Mup4	T	A	4: 59,958,124 (GRCm39)	E148V	possibly damaging	Het
Napb	T	C	2: 148,545,057 (GRCm39)	N162S	possibly damaging	Het
Nlgn2	T	C	11: 69,718,563 (GRCm39)	D339G	probably benign	Het
Nucks1	C	T	1: 131,855,840 (GRCm39)	R90C	possibly damaging	Het
Or11g7	T	C	14: 50,691,196 (GRCm39)	V229A	probably damaging	Het
Or5an9	T	A	19: 12,187,518 (GRCm39)	V196E	possibly damaging	Het
Plekhd1	A	T	12: 80,739,723 (GRCm39)	D24V	probably damaging	Het
Prpf4b	C	T	13: 35,083,958 (GRCm39)	P909L	probably damaging	Het
Rasgrp1	T	A	2: 117,132,485 (GRCm39)	K116*	probably null	Het
Ror1	A	G	4: 100,269,133 (GRCm39)	T324A	possibly damaging	Het
Slc24a4	G	A	12: 102,230,629 (GRCm39)	G505R	probably damaging	Het
Slc8a1	A	G	17: 81,956,702 (GRCm39)	I112T	possibly damaging	Het
Smarcc2	A	G	10: 128,297,314 (GRCm39)	S69G	probably damaging	Het
Smc2	A	T	4: 52,458,447 (GRCm39)	E429D	probably damaging	Het
Sry	T	C	Y: 2,663,312 (GRCm39)	D116G	probably damaging	Het
Tcea3	T	A	4: 135,985,246 (GRCm39)	V154E	possibly damaging	Het
Tigd2	G	A	6: 59,188,205 (GRCm39)	W357*	probably null	Het
Tmem177	T	A	1: 119,838,419 (GRCm39)	T87S	probably benign	Het
Treh	A	T	9: 44,594,186 (GRCm39)	E144V	probably null	Het
Trpm6	T	A	19: 18,764,124 (GRCm39)	D243E	probably damaging	Het
Ttn	T	C	2: 76,608,394 (GRCm39)	D17843G	probably damaging	Het
Vars2	A	C	17: 35,970,365 (GRCm39)		probably null	Het
Vmn1r201	G	A	13: 22,659,530 (GRCm39)	W248*	probably null	Het
Yap1	T	C	9: 8,001,690 (GRCm39)	T99A	probably benign	Het
Zbtb8b	C	A	4: 129,326,793 (GRCm39)	C91F	probably damaging	Het
Zfp882	A	G	8: 72,668,498 (GRCm39)	T442A	possibly damaging	Het
Zxdc	G	T	6: 90,359,320 (GRCm39)	G651C	probably benign	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
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
R7029:Ell	UTSW	8	71,031,879 (GRCm39)	missense	probably damaging	0.99
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'- TGCTCTGCAGGTCTGAATGG -3'
(R):5'- ACCCTGACCATGACTTGCTG -3'

Sequencing Primer
(F):5'- TGGAGCCTGTGACAATGAACCC -3'
(R):5'- AGTGGCATGCAGTACCTCGTAC -3'

Posted On

2016-06-06