Mutagenetix > Incidental Mutation

Incidental Mutation 'R1403:Ell'

188615

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

039465-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1403 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70992345-71045508 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 71044138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000093454

SMART Domains

Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002

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: ENSMUST00000211501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211773

Predicted Effect

probably benign
Transcript: ENSMUST00000211117

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (51/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,059,253 (GRCm39)		probably benign	Het
AC238840.3	T	G	7: 38,567,345 (GRCm39)	I28L	probably benign	Het
Acsf2	G	T	11: 94,453,700 (GRCm39)	N420K	probably benign	Het
Adam26a	A	T	8: 44,022,229 (GRCm39)	C420*	probably null	Het
Afap1l1	T	C	18: 61,874,909 (GRCm39)	Y424C	probably damaging	Het
Agl	A	G	3: 116,576,246 (GRCm39)	V553A	probably benign	Het
Akr7a5	T	A	4: 139,045,434 (GRCm39)	M325K	probably damaging	Het
Akt3	C	T	1: 176,958,676 (GRCm39)		probably benign	Het
Aldh7a1	C	A	18: 56,692,341 (GRCm39)	E87*	probably null	Het
Arhgap29	A	G	3: 121,767,578 (GRCm39)	K7E	probably damaging	Het
Brca2	T	A	5: 150,466,114 (GRCm39)	D1959E	probably benign	Het
Cdc42se2	A	G	11: 54,611,192 (GRCm39)		probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Chil5	G	T	3: 105,925,409 (GRCm39)	Q171K	probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dhrs7c	A	T	11: 67,702,476 (GRCm39)	I155F	probably damaging	Het
Dip2c	A	G	13: 9,603,300 (GRCm39)		probably null	Het
Fam124b	T	C	1: 80,191,056 (GRCm39)	Y109C	possibly damaging	Het
Gak	T	A	5: 108,739,011 (GRCm39)	K156M	probably damaging	Het
Gm9797	C	A	10: 11,485,294 (GRCm39)		noncoding transcript	Het
Got1l1	C	G	8: 27,690,745 (GRCm39)		probably null	Het
Grm1	T	C	10: 10,955,879 (GRCm39)	D135G	probably benign	Het
Hrh3	T	G	2: 179,744,547 (GRCm39)	D131A	probably damaging	Het
Itpr1	A	T	6: 108,366,514 (GRCm39)	Q979L	probably null	Het
Kdm7a	C	A	6: 39,128,187 (GRCm39)		probably benign	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Lingo2	A	T	4: 35,709,420 (GRCm39)	C187S	possibly damaging	Het
Lrp1	T	A	10: 127,417,760 (GRCm39)		probably null	Het
Ltbp4	T	C	7: 27,028,464 (GRCm39)	N266S	unknown	Het
Mgam	G	A	6: 40,643,815 (GRCm39)	S581N	possibly damaging	Het
Mrgpra9	T	A	7: 46,885,386 (GRCm39)	I94L	probably benign	Het
Msantd4	A	T	9: 4,384,023 (GRCm39)	I115F	probably benign	Het
Mterf3	A	G	13: 67,077,944 (GRCm39)		probably benign	Het
Neurl1a	C	A	19: 47,242,150 (GRCm39)	N414K	probably damaging	Het
Nfkbiz	A	G	16: 55,636,833 (GRCm39)		probably benign	Het
Nrxn1	A	C	17: 90,950,481 (GRCm39)	L566R	probably benign	Het
Nsmce1	A	G	7: 125,067,027 (GRCm39)		probably benign	Het
Or5p59	T	A	7: 107,702,822 (GRCm39)	I102N	probably benign	Het
Prl7d1	A	T	13: 27,893,180 (GRCm39)	F243I	possibly damaging	Het
Rbm27	T	C	18: 42,450,746 (GRCm39)	S509P	probably damaging	Het
Rnf126	C	T	10: 79,596,702 (GRCm39)	A239T	probably benign	Het
Rnf44	C	T	13: 54,829,821 (GRCm39)	E306K	probably damaging	Het
Rp1	T	C	1: 4,416,520 (GRCm39)	R1531G	possibly damaging	Het
Sf3b4	A	G	3: 96,080,953 (GRCm39)		probably null	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Syt15	C	A	14: 33,943,159 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,836,603 (GRCm39)	E2980D	probably benign	Het
Vps13b	A	G	15: 35,709,268 (GRCm39)		probably benign	Het
Vwa2	C	T	19: 56,869,570 (GRCm39)	P2S	unknown	Het
Wdr77	G	A	3: 105,874,573 (GRCm39)	V322I	possibly damaging	Het
Zfp12	C	A	5: 143,230,535 (GRCm39)	Y287*	probably null	Het
Zfp937	T	A	2: 150,080,868 (GRCm39)	Y299*	probably null	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
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
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

Posted On

2014-05-09