Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01738:Ell'

105773

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ell

Ensembl Gene

ENSMUSG00000070002

Gene Name

elongation factor RNA polymerase II

Synonyms

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01738

Quality Score

Status

Chromosome

Chromosomal Location

70539457-70592858 bp(+) (GRCm38)

Type of Mutation

splice site (40 bp from exon)

DNA Base Change (assembly)

T to A at 70581681 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147325 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000093454
AA Change: V199E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002
AA Change: V199E

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 null
Transcript: ENSMUST00000210155

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 105,710,036	D288V	probably damaging	Het
Agtr1a	G	A	13: 30,381,038	V29I	probably benign	Het
Akap6	G	T	12: 52,886,817	C364F	probably damaging	Het
Calcrl	T	G	2: 84,370,449	M84L	probably benign	Het
Cep128	C	A	12: 91,230,842	G402C	probably damaging	Het
Cfap43	A	G	19: 47,797,185	L422P	probably damaging	Het
Cnbd2	C	A	2: 156,375,617		probably benign	Het
Col27a1	A	G	4: 63,263,779		probably benign	Het
Cyp3a44	A	G	5: 145,794,935	S134P	probably damaging	Het
Dync2h1	A	C	9: 7,114,922	L179R	possibly damaging	Het
Gfm1	A	G	3: 67,456,661	E490G	probably benign	Het
Glt1d1	T	G	5: 127,632,355		probably benign	Het
Gm10267	A	T	18: 44,159,275	I10K	possibly damaging	Het
Htra4	A	G	8: 25,025,711	V437A	probably damaging	Het
Ighv1-69	T	C	12: 115,623,441	Q24R	possibly damaging	Het
Igkv14-111	G	A	6: 68,256,459		probably benign	Het
Ipcef1	A	T	10: 6,890,575	I374N	probably damaging	Het
Iqgap1	T	C	7: 80,723,900	D1447G	possibly damaging	Het
Mast4	A	G	13: 102,737,241	F1681S	probably damaging	Het
Mmp3	A	T	9: 7,446,946	N42I	possibly damaging	Het
Mybpc1	G	T	10: 88,570,645	F126L	probably damaging	Het
Myo1e	A	G	9: 70,359,370	K631E	probably damaging	Het
Olfr902	A	C	9: 38,449,646	Y258S	probably damaging	Het
Pcsk5	T	A	19: 17,433,780		probably benign	Het
Serpina3b	T	G	12: 104,130,832	L124R	probably damaging	Het
Srgap2	T	C	1: 131,296,426	I95V	probably benign	Het
Sstr5	A	T	17: 25,491,610	I215N	probably damaging	Het
Top3b	G	A	16: 16,880,604	V104M	probably benign	Het
Tspan8	G	A	10: 115,817,665		probably null	Het
Vmn2r102	A	G	17: 19,677,758	Y345C	probably damaging	Het
Vmn2r17	G	A	5: 109,429,498	G472S	probably damaging	Het
Zmpste24	A	T	4: 121,061,111	L438Q	probably damaging	Het

Other mutations in Ell

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Ell	APN	8	70578913	missense	probably damaging	1.00
IGL01666:Ell	APN	8	70585813	missense	probably benign
IGL02032:Ell	APN	8	70586001	missense	probably benign
PIT4418001:Ell	UTSW	8	70581681	missense	probably damaging	0.96
R1403:Ell	UTSW	8	70591488	unclassified	probably benign
R1735:Ell	UTSW	8	70578940	missense	possibly damaging	0.88
R4164:Ell	UTSW	8	70581573	missense	probably damaging	1.00
R4705:Ell	UTSW	8	70578934	missense	possibly damaging	0.92
R5028:Ell	UTSW	8	70590699	missense	probably damaging	1.00
R5350:Ell	UTSW	8	70539789	missense	probably damaging	1.00
R5590:Ell	UTSW	8	70539707	start codon destroyed	possibly damaging	0.59
R5615:Ell	UTSW	8	70590732	missense	probably benign	0.04
R6333:Ell	UTSW	8	70591538	missense	probably damaging	1.00
R6490:Ell	UTSW	8	70572903	missense	probably damaging	0.99
R6834:Ell	UTSW	8	70579134	missense	probably damaging	1.00
R7029:Ell	UTSW	8	70579229	missense	probably damaging	0.99
R7162:Ell	UTSW	8	70578909	missense	possibly damaging	0.82
R7477:Ell	UTSW	8	70585218	missense	probably benign	0.01
R7702:Ell	UTSW	8	70539714	missense	possibly damaging	0.73
Z1176:Ell	UTSW	8	70578927	missense	probably damaging	1.00

Posted On

2014-01-21