Mutagenetix > Incidental Mutation

Incidental Mutation 'R5350:Ell'

423756

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

042929-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5350 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

70992345-71045508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70992439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 28 (V28E)

Ref Sequence

ENSEMBL: ENSMUSP00000091163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075491] [ENSMUST00000093454] [ENSMUST00000119353] [ENSMUST00000119698] [ENSMUST00000210155] [ENSMUST00000134893]

AlphaFold

O08856

Predicted Effect

probably benign
Transcript: ENSMUST00000075491

SMART Domains

Protein: ENSMUSP00000074935
Gene: ENSMUSG00000019428

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
Pfam:FKBP_C	103	192	1.4e-16	PFAM
Blast:TPR	212	245	2e-12	BLAST
low complexity region	253	259	N/A	INTRINSIC
Pfam:TPR_1	263	296	5.4e-7	PFAM
Pfam:TPR_2	263	296	3.8e-5	PFAM
Pfam:TPR_16	267	331	3e-11	PFAM
Pfam:TPR_9	270	344	1.3e-7	PFAM
Pfam:TPR_19	273	340	1.6e-8	PFAM
Pfam:TPR_1	297	330	5.4e-8	PFAM
Pfam:TPR_2	297	330	1.3e-7	PFAM
Pfam:TPR_8	297	330	9e-7	PFAM
Pfam:TPR_14	297	340	2.1e-7	PFAM
transmembrane domain	381	400	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000093454
AA Change: V28E

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

SMART Domains

Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002
AA Change: V28E

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: ENSMUST00000119353

SMART Domains

Protein: ENSMUSP00000112527
Gene: ENSMUSG00000019428

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
Pfam:FKBP_C	103	191	1.3e-15	PFAM
Pfam:TPR_11	209	293	3.4e-9	PFAM
Pfam:TPR_1	262	295	6.5e-7	PFAM
Pfam:TPR_2	262	295	3.9e-5	PFAM
Pfam:TPR_16	266	330	1.4e-11	PFAM
Pfam:TPR_9	269	343	1.5e-7	PFAM
Pfam:TPR_19	272	339	8.6e-9	PFAM
Pfam:TPR_11	294	358	2.6e-9	PFAM
Pfam:TPR_1	296	329	6.6e-8	PFAM
Pfam:TPR_2	296	329	1.3e-7	PFAM
Pfam:TPR_8	296	330	5.5e-7	PFAM
transmembrane domain	380	399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119698

SMART Domains

Protein: ENSMUSP00000114069
Gene: ENSMUSG00000019428

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
Pfam:FKBP_C	103	192	6.4e-16	PFAM
Pfam:TPR_11	210	294	3.4e-9	PFAM
Pfam:TPR_1	263	296	6.5e-7	PFAM
Pfam:TPR_2	263	296	3.9e-5	PFAM
Pfam:TPR_16	267	331	1.4e-11	PFAM
Pfam:TPR_9	270	344	1.5e-7	PFAM
Pfam:TPR_19	273	340	8.6e-9	PFAM
Pfam:TPR_11	295	359	2.6e-9	PFAM
Pfam:TPR_1	297	330	6.6e-8	PFAM
Pfam:TPR_2	297	330	1.3e-7	PFAM
Pfam:TPR_8	297	331	5.6e-7	PFAM
transmembrane domain	381	400	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134299

Predicted Effect

probably benign
Transcript: ENSMUST00000210155

Predicted Effect

probably benign
Transcript: ENSMUST00000134893

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,210,622 (GRCm39)	Q186*	probably null	Het
Abca9	A	G	11: 110,006,364 (GRCm39)	V1247A	probably benign	Het
Acaca	A	T	11: 84,106,699 (GRCm39)	M133L	probably damaging	Het
Acacb	C	T	5: 114,382,612 (GRCm39)	A2100V	probably damaging	Het
Adamts16	T	A	13: 70,901,315 (GRCm39)	K921*	probably null	Het
Ankrd55	T	G	13: 112,472,760 (GRCm39)	V144G	probably damaging	Het
Arap3	A	G	18: 38,115,088 (GRCm39)	L976P	probably damaging	Het
Atg2a	T	A	19: 6,301,368 (GRCm39)	V814E	probably damaging	Het
Atp2b2	A	T	6: 113,736,199 (GRCm39)	M960K	probably damaging	Het
Bag1	C	T	4: 40,948,007 (GRCm39)	G66S	possibly damaging	Het
Bmp8a	A	T	4: 123,207,088 (GRCm39)	M391K	probably damaging	Het
Capns1	C	A	7: 29,889,551 (GRCm39)	R216L	probably damaging	Het
Cdk13	T	C	13: 17,978,515 (GRCm39)		probably benign	Het
Cmtm3	T	C	8: 105,070,465 (GRCm39)	F75L	probably damaging	Het
Cops4	T	A	5: 100,666,405 (GRCm39)	D21E	possibly damaging	Het
Dach1	G	T	14: 98,207,395 (GRCm39)	A318E	probably damaging	Het
Ddx27	A	G	2: 166,869,780 (GRCm39)		probably benign	Het
Disp2	A	G	2: 118,618,056 (GRCm39)	T201A	probably benign	Het
Dnah2	G	T	11: 69,406,862 (GRCm39)	D214E	possibly damaging	Het
Dnah7b	G	T	1: 46,272,849 (GRCm39)	G2326C	probably benign	Het
Dusp5	T	C	19: 53,529,665 (GRCm39)	F356S	probably damaging	Het
Duxf3	C	A	10: 58,066,915 (GRCm39)	S528I	probably damaging	Het
Evi5	C	T	5: 107,963,544 (GRCm39)	D344N	probably benign	Het
Fv1	G	T	4: 147,954,546 (GRCm39)	V371L	possibly damaging	Het
Gemin5	A	G	11: 58,032,412 (GRCm39)		probably null	Het
Glce	A	T	9: 61,967,587 (GRCm39)	Y521*	probably null	Het
Grn	T	A	11: 102,327,070 (GRCm39)	L556Q	possibly damaging	Het
Icam1	C	A	9: 20,939,182 (GRCm39)	Y518*	probably null	Het
Jag2	A	T	12: 112,872,542 (GRCm39)	S1237R	possibly damaging	Het
Macf1	A	T	4: 123,421,251 (GRCm39)	M1K	probably null	Het
Nbea	T	C	3: 55,926,845 (GRCm39)	E786G	probably damaging	Het
Nr4a2	A	G	2: 57,001,877 (GRCm39)	M192T	probably damaging	Het
Or2v2	T	C	11: 49,003,879 (GRCm39)	T225A	probably benign	Het
Or4a73	T	A	2: 89,421,432 (GRCm39)	E9V	possibly damaging	Het
Or52s1b	T	A	7: 102,822,766 (GRCm39)	H26L	probably damaging	Het
Or7e169	A	T	9: 19,757,912 (GRCm39)	M1K	probably null	Het
Pcnx4	A	C	12: 72,626,138 (GRCm39)	N1115H	probably damaging	Het
Ppargc1b	A	G	18: 61,442,134 (GRCm39)	S585P	possibly damaging	Het
Ppip5k2	C	T	1: 97,648,853 (GRCm39)	S1024N	probably damaging	Het
Prkar1b	C	T	5: 139,092,383 (GRCm39)	E145K	probably damaging	Het
Psd3	T	A	8: 68,361,513 (GRCm39)	T539S	probably benign	Het
Rit2	A	G	18: 31,449,905 (GRCm39)	V31A	probably damaging	Het
Rps6kc1	G	A	1: 190,531,663 (GRCm39)	P780S	probably benign	Het
Serpina6	G	T	12: 103,614,838 (GRCm39)	T336K	possibly damaging	Het
Smo	A	T	6: 29,754,466 (GRCm39)	Q232L	probably benign	Het
Stx2	T	C	5: 129,068,155 (GRCm39)	D184G	probably damaging	Het
Tmprss11d	T	C	5: 86,486,746 (GRCm39)	Y48C	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	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
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'- TCTGTCAAAGAAGGCACGCG -3'
(R):5'- GCCAACCTGAAGGATGTCACTG -3'

Sequencing Primer
(F):5'- GCTGGCCTCATGAATAATGC -3'
(R):5'- CACTGGGGCTGGTCAAGGTATC -3'

Posted On

2016-08-04