Mutagenetix > Incidental Mutation

Incidental Mutation 'R7901:Ell2'

610009

Institutional Source

Beutler Lab

Gene Symbol

Ell2

Ensembl Gene

ENSMUSG00000001542

Gene Name

elongation factor for RNA polymerase II 2

Synonyms

MMRRC Submission

045953-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7901 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75855603-75920480 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 75912105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 464 (K464*)

Ref Sequence

ENSEMBL: ENSMUSP00000001583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001583] [ENSMUST00000220572] [ENSMUST00000222194] [ENSMUST00000222853]

AlphaFold

Q3UKU1

Predicted Effect

probably null
Transcript: ENSMUST00000001583
AA Change: K464*

SMART Domains

Protein: ENSMUSP00000001583
Gene: ENSMUSG00000001542
AA Change: K464*

Domain	Start	End	E-Value	Type
Pfam:ELL	11	291	2.4e-108	PFAM
low complexity region	362	401	N/A	INTRINSIC
low complexity region	451	476	N/A	INTRINSIC
Pfam:Occludin_ELL	531	632	2e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220572

Predicted Effect

probably benign
Transcript: ENSMUST00000222194

Predicted Effect

probably benign
Transcript: ENSMUST00000222853

Predicted Effect

probably benign
Transcript: ENSMUST00000222892

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,119,434 (GRCm39)		probably null	Het
Adpgk	T	C	9: 59,222,300 (GRCm39)	V409A	probably benign	Het
Agfg2	A	T	5: 137,665,966 (GRCm39)	F98I	probably damaging	Het
Arhgap17	A	T	7: 122,885,791 (GRCm39)		probably benign	Het
Asb8	T	C	15: 98,040,614 (GRCm39)	Y16C	probably damaging	Het
Atp6v0a2	C	T	5: 124,779,485 (GRCm39)	T200I	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccnt1	A	T	15: 98,441,797 (GRCm39)	D490E	probably benign	Het
Cenpf	G	T	1: 189,389,445 (GRCm39)	D1462E	probably damaging	Het
Clcn6	C	T	4: 148,095,202 (GRCm39)	R736H	probably damaging	Het
Col4a2	A	T	8: 11,479,358 (GRCm39)	D747V	probably benign	Het
Cplane1	A	G	15: 8,299,190 (GRCm39)	E3126G	unknown	Het
Crybg3	T	C	16: 59,377,907 (GRCm39)	T1116A	probably damaging	Het
Csf1r	T	A	18: 61,243,368 (GRCm39)	L128Q	probably damaging	Het
Ddx17	A	T	15: 79,422,789 (GRCm39)	D316E	probably damaging	Het
Ect2l	T	A	10: 18,017,712 (GRCm39)	D681V	possibly damaging	Het
Eme1	G	T	11: 94,541,645 (GRCm39)	P59Q	probably damaging	Het
Etl4	T	C	2: 20,294,821 (GRCm39)	S2P	possibly damaging	Het
Fndc9	T	C	11: 46,128,576 (GRCm39)	Y32H	probably damaging	Het
Frem1	G	T	4: 82,877,614 (GRCm39)	T1321K	probably benign	Het
Gabrg2	A	G	11: 41,867,418 (GRCm39)	V67A	probably benign	Het
Gm4553	ACAGCAGCTGGACTGACAGCAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG	ACAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG	7: 141,718,602 (GRCm39)		probably benign	Het
Gm5145	A	C	17: 20,790,900 (GRCm39)	I93L	possibly damaging	Het
Gpld1	T	A	13: 25,146,758 (GRCm39)	V240E	probably damaging	Het
Gsc	T	A	12: 104,439,131 (GRCm39)	S82C	possibly damaging	Het
H2-T10	C	T	17: 36,431,143 (GRCm39)	E173K	probably benign	Het
Ifi213	A	T	1: 173,394,784 (GRCm39)	S584T	probably benign	Het
Klk1b1	T	C	7: 43,620,669 (GRCm39)	I253T	probably damaging	Het
Klra4	A	G	6: 130,040,113 (GRCm39)	L53P	probably damaging	Het
Lct	A	G	1: 128,216,722 (GRCm39)	Y1697H	probably benign	Het
Mrs2	T	A	13: 25,202,549 (GRCm39)	D64V	possibly damaging	Het
Muc13	A	G	16: 33,636,211 (GRCm39)	Q565R	probably damaging	Het
Nlrp6	T	C	7: 140,507,353 (GRCm39)	V873A	possibly damaging	Het
Nup155	C	T	15: 8,145,926 (GRCm39)	P159L	possibly damaging	Het
Or10v1	A	T	19: 11,873,898 (GRCm39)	H171L	probably benign	Het
Or4m1	A	T	14: 50,557,573 (GRCm39)	S240T	probably damaging	Het
Or51a6	T	C	7: 102,604,887 (GRCm39)		probably null	Het
Phip	T	G	9: 82,772,203 (GRCm39)	M1115L	probably benign	Het
Ppip5k1	T	C	2: 121,142,390 (GRCm39)	Q1353R	probably damaging	Het
Ptprb	C	G	10: 116,205,333 (GRCm39)	P1896A	probably benign	Het
Rgl2	T	C	17: 34,154,799 (GRCm39)	L601P	possibly damaging	Het
Sash1	C	T	10: 8,656,328 (GRCm39)	W221*	probably null	Het
Skint1	A	C	4: 111,876,399 (GRCm39)	T107P	probably damaging	Het
Slc45a4	G	A	15: 73,477,621 (GRCm39)		probably benign	Het
Snx13	T	A	12: 35,150,624 (GRCm39)	D309E	probably benign	Het
Spcs1	A	G	14: 30,722,628 (GRCm39)	Y64H	probably benign	Het
Tep1	A	T	14: 51,064,308 (GRCm39)	Y2434N	possibly damaging	Het
Tnpo3	T	C	6: 29,568,990 (GRCm39)	E454G	possibly damaging	Het
Tsg101	G	T	7: 46,563,183 (GRCm39)	Q24K	probably benign	Het
Ttc6	C	T	12: 57,735,353 (GRCm39)	R1132W	probably damaging	Het
Unkl	T	C	17: 25,437,627 (GRCm39)	S200P	probably damaging	Het
Uts2r	G	A	11: 121,052,234 (GRCm39)	S366N	probably benign	Het
Wbp4	A	T	14: 79,709,845 (GRCm39)	V130E	probably damaging	Het
Zfp592	T	G	7: 80,674,469 (GRCm39)	S478A	probably benign	Het
Zfp664	A	T	5: 124,962,839 (GRCm39)	K78*	probably null	Het
Zfp738	A	T	13: 67,821,110 (GRCm39)	L79*	probably null	Het
Zfyve28	C	T	5: 34,382,326 (GRCm39)	R258Q	probably damaging	Het

Other mutations in Ell2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Ell2	APN	13	75,904,409 (GRCm39)	missense	probably damaging	1.00
IGL01315:Ell2	APN	13	75,910,351 (GRCm39)	unclassified	probably benign
IGL01446:Ell2	APN	13	75,910,110 (GRCm39)	missense	probably benign	0.02
IGL02691:Ell2	APN	13	75,904,605 (GRCm39)	missense	probably damaging	0.97
IGL02963:Ell2	APN	13	75,917,762 (GRCm39)	missense	possibly damaging	0.48
IGL03035:Ell2	APN	13	75,911,767 (GRCm39)	nonsense	probably null
enhancement	UTSW	13	75,918,854 (GRCm39)	missense	probably damaging	1.00
stilts	UTSW	13	75,912,105 (GRCm39)	nonsense	probably null
PIT4469001:Ell2	UTSW	13	75,910,011 (GRCm39)	missense	probably damaging	0.99
R0123:Ell2	UTSW	13	75,910,259 (GRCm39)	splice site	probably benign
R0321:Ell2	UTSW	13	75,910,007 (GRCm39)	missense	probably damaging	1.00
R0594:Ell2	UTSW	13	75,898,112 (GRCm39)	missense	probably damaging	1.00
R0892:Ell2	UTSW	13	75,911,758 (GRCm39)	missense	probably damaging	0.97
R1078:Ell2	UTSW	13	75,894,538 (GRCm39)	splice site	probably benign
R1696:Ell2	UTSW	13	75,917,677 (GRCm39)	missense	probably damaging	1.00
R2325:Ell2	UTSW	13	75,917,745 (GRCm39)	missense	probably damaging	1.00
R2886:Ell2	UTSW	13	75,911,904 (GRCm39)	missense	probably damaging	1.00
R3760:Ell2	UTSW	13	75,910,281 (GRCm39)	missense	probably benign	0.37
R4206:Ell2	UTSW	13	75,910,067 (GRCm39)	missense	probably damaging	1.00
R4632:Ell2	UTSW	13	75,917,693 (GRCm39)	missense	possibly damaging	0.84
R5068:Ell2	UTSW	13	75,911,737 (GRCm39)	missense	probably benign	0.00
R6980:Ell2	UTSW	13	75,904,495 (GRCm39)	missense	probably null
R6983:Ell2	UTSW	13	75,910,006 (GRCm39)	missense	probably damaging	1.00
R6984:Ell2	UTSW	13	75,910,006 (GRCm39)	missense	probably damaging	1.00
R6986:Ell2	UTSW	13	75,910,006 (GRCm39)	missense	probably damaging	1.00
R7073:Ell2	UTSW	13	75,910,006 (GRCm39)	missense	probably damaging	1.00
R7074:Ell2	UTSW	13	75,910,006 (GRCm39)	missense	probably damaging	1.00
R7473:Ell2	UTSW	13	75,898,154 (GRCm39)	missense	probably damaging	1.00
R7590:Ell2	UTSW	13	75,918,854 (GRCm39)	missense	probably damaging	1.00
R8855:Ell2	UTSW	13	75,917,793 (GRCm39)	missense	probably damaging	1.00
R8866:Ell2	UTSW	13	75,917,793 (GRCm39)	missense	probably damaging	1.00
R9413:Ell2	UTSW	13	75,917,705 (GRCm39)	missense
R9517:Ell2	UTSW	13	75,912,106 (GRCm39)	missense	possibly damaging	0.89
R9581:Ell2	UTSW	13	75,912,148 (GRCm39)	missense	probably benign	0.04
RF018:Ell2	UTSW	13	75,911,727 (GRCm39)	missense	probably damaging	1.00
Z1088:Ell2	UTSW	13	75,909,992 (GRCm39)	critical splice acceptor site	probably benign
Z1176:Ell2	UTSW	13	75,918,808 (GRCm39)	missense	probably damaging	1.00
Z1176:Ell2	UTSW	13	75,904,571 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCCCCTAGCACTCCAGAAG -3'
(R):5'- AGGCTCCTCCAGTTCATTTAACAC -3'

Sequencing Primer
(F):5'- TAGCACTCCAGAAGGCCTG -3'
(R):5'- GTTCATTTAACACAGAAAGCAGGC -3'

Posted On

2019-12-20