Mutagenetix > Incidental Mutation

Incidental Mutation 'R1880:Ell3'

209019

Institutional Source

Beutler Lab

Gene Symbol

Ell3

Ensembl Gene

ENSMUSG00000027246

Gene Name

elongation factor RNA polymerase II-like 3

Synonyms

MMRRC Submission

039901-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1880 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121269508-121273082 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121270792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 247 (D247G)

Ref Sequence

ENSEMBL: ENSMUSP00000112133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028679] [ENSMUST00000028683] [ENSMUST00000116432]

AlphaFold

Q80VR2

Predicted Effect

probably benign
Transcript: ENSMUST00000028679
AA Change: D247G

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028679
Gene: ENSMUSG00000027246
AA Change: D247G

Domain	Start	End	E-Value	Type
Pfam:ELL	15	123	2e-13	PFAM
low complexity region	240	261	N/A	INTRINSIC
low complexity region	269	281	N/A	INTRINSIC
Pfam:Occludin_ELL	289	390	3.8e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000028683

SMART Domains

Protein: ENSMUSP00000028683
Gene: ENSMUSG00000027248

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Thioredoxin	26	131	5.2e-36	PFAM
Pfam:Thioredoxin_6	160	355	2e-29	PFAM
Pfam:Thioredoxin	377	483	9.5e-33	PFAM
low complexity region	487	503	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116432
AA Change: D247G

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112133
Gene: ENSMUSG00000027246
AA Change: D247G

Domain	Start	End	E-Value	Type
Pfam:ELL	5	247	1.3e-43	PFAM
low complexity region	269	281	N/A	INTRINSIC
Pfam:Occludin_ELL	289	390	1.8e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140752

SMART Domains

Protein: ENSMUSP00000116676
Gene: ENSMUSG00000046110

Domain	Start	End	E-Value	Type
Pfam:Serinc	2	78	7.3e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153866

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.4%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,072,615 (GRCm39)	D846G	possibly damaging	Het
Arhgef5	C	A	6: 43,250,022 (GRCm39)	Q258K	possibly damaging	Het
Atp10b	G	T	11: 43,150,259 (GRCm39)	G1319V	probably damaging	Het
Axl	T	C	7: 25,473,973 (GRCm39)	T315A	probably damaging	Het
Brd10	C	A	19: 29,695,523 (GRCm39)	L1323F	probably benign	Het
Btnl2	A	G	17: 34,584,337 (GRCm39)	E420G	possibly damaging	Het
Capn2	A	G	1: 182,316,581 (GRCm39)	W293R	probably damaging	Het
Cd209f	A	G	8: 4,155,464 (GRCm39)		probably null	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Col1a1	A	G	11: 94,841,394 (GRCm39)	K1259R	unknown	Het
Dpysl3	A	T	18: 43,462,939 (GRCm39)		probably null	Het
Dus4l	T	C	12: 31,690,869 (GRCm39)	I261V	probably benign	Het
Erg	G	A	16: 95,178,168 (GRCm39)	T246I	probably benign	Het
Eva1c	T	C	16: 90,694,303 (GRCm39)	I196T	possibly damaging	Het
Fbxo43	T	C	15: 36,162,661 (GRCm39)	D182G	probably benign	Het
Frrs1	T	C	3: 116,690,444 (GRCm39)		probably null	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gata4	G	T	14: 63,442,144 (GRCm39)	P20Q	probably damaging	Het
Gmnc	T	C	16: 26,784,361 (GRCm39)	D48G	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Habp2	A	G	19: 56,306,260 (GRCm39)	I481V	possibly damaging	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Hnrnpul1	A	G	7: 25,432,523 (GRCm39)	V380A	possibly damaging	Het
Hspa2	G	A	12: 76,452,694 (GRCm39)	D463N	possibly damaging	Het
Itga11	A	G	9: 62,585,231 (GRCm39)	D2G	probably benign	Het
Kel	G	A	6: 41,664,479 (GRCm39)	L653F	possibly damaging	Het
Lgr5	T	C	10: 115,288,184 (GRCm39)	Y748C	probably damaging	Het
Lpxn	A	G	19: 12,781,452 (GRCm39)	K57E	probably benign	Het
Ltbp2	G	T	12: 84,876,045 (GRCm39)	H501N	probably benign	Het
Macf1	G	A	4: 123,332,384 (GRCm39)	A2419V	probably damaging	Het
Map3k12	A	G	15: 102,410,499 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,034,285 (GRCm39)	V668I	possibly damaging	Het
Mmp10	T	C	9: 7,505,575 (GRCm39)	S280P	probably benign	Het
Neb	C	A	2: 52,148,743 (GRCm39)	M2601I	probably damaging	Het
Nsd1	T	A	13: 55,361,606 (GRCm39)	N191K	probably damaging	Het
Or2w1	A	T	13: 21,317,802 (GRCm39)	N286Y	probably damaging	Het
Or5e1	T	C	7: 108,354,335 (GRCm39)	S91P	probably damaging	Het
Or5w14	C	A	2: 87,541,639 (GRCm39)	G204C	probably damaging	Het
Or6c214	A	G	10: 129,591,290 (GRCm39)	F10L	probably benign	Het
Patj	C	T	4: 98,385,477 (GRCm39)	P364S	probably benign	Het
Pex1	T	C	5: 3,655,770 (GRCm39)	V39A	probably benign	Het
Pira13	C	T	7: 3,827,950 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,388,638 (GRCm39)	I1332F	probably benign	Het
Polq	T	C	16: 36,906,954 (GRCm39)	V2026A	possibly damaging	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Ppp4r4	T	A	12: 103,571,294 (GRCm39)	Y678N	possibly damaging	Het
Rpf2	T	C	10: 40,109,154 (GRCm39)	D95G	possibly damaging	Het
Sema3c	A	T	5: 17,932,464 (GRCm39)	K656*	probably null	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Snap25	G	A	2: 136,619,305 (GRCm39)	V153M	probably damaging	Het
Snrnp70	T	C	7: 45,026,786 (GRCm39)		probably null	Het
Tas2r144	C	T	6: 42,193,004 (GRCm39)	T248I	probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Usp38	T	C	8: 81,727,695 (GRCm39)	E346G	probably damaging	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r91	A	T	7: 19,835,698 (GRCm39)	S206C	probably damaging	Het
Vps36	T	C	8: 22,703,578 (GRCm39)		probably null	Het
Wdfy3	T	C	5: 102,065,301 (GRCm39)	N1289S	probably benign	Het
Zfp759	T	C	13: 67,287,276 (GRCm39)	C276R	probably damaging	Het
Zkscan17	G	A	11: 59,378,455 (GRCm39)	Q243*	probably null	Het

Other mutations in Ell3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Ell3	APN	2	121,270,761 (GRCm39)	missense	probably benign	0.02
IGL01348:Ell3	APN	2	121,272,277 (GRCm39)	missense	probably damaging	1.00
IGL01710:Ell3	APN	2	121,271,993 (GRCm39)	missense	probably damaging	0.99
K7371:Ell3	UTSW	2	121,269,969 (GRCm39)	missense	probably damaging	1.00
R1443:Ell3	UTSW	2	121,269,946 (GRCm39)	missense	probably damaging	1.00
R6226:Ell3	UTSW	2	121,272,258 (GRCm39)	missense	probably damaging	0.96
R7417:Ell3	UTSW	2	121,270,891 (GRCm39)	missense	probably benign	0.45
R7733:Ell3	UTSW	2	121,273,001 (GRCm39)	missense	possibly damaging	0.90
R7798:Ell3	UTSW	2	121,269,937 (GRCm39)	utr 3 prime	probably benign
R7799:Ell3	UTSW	2	121,269,937 (GRCm39)	utr 3 prime	probably benign
R8097:Ell3	UTSW	2	121,269,937 (GRCm39)	utr 3 prime	probably benign
R8098:Ell3	UTSW	2	121,269,937 (GRCm39)	utr 3 prime	probably benign
R8099:Ell3	UTSW	2	121,269,937 (GRCm39)	utr 3 prime	probably benign
R8100:Ell3	UTSW	2	121,269,937 (GRCm39)	utr 3 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- TAATCTGGTACCTCCTCAGGG -3'
(R):5'- GCTAAGTCTTAAACCTAGGAGCTG -3'

Sequencing Primer
(F):5'- TACCTCCTCAGGGCTTGG -3'
(R):5'- TCTTAAACCTAGGAGCTGATGGG -3'

Posted On

2014-06-30