Mutagenetix > Incidental Mutation

Incidental Mutation 'RF018:Ell2'

603702

Institutional Source

Beutler Lab

Gene Symbol

Ell2

Ensembl Gene

ENSMUSG00000001542

Gene Name

elongation factor for RNA polymerase II 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75855603-75920480 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75911727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 338 (H338N)

Ref Sequence

ENSEMBL: ENSMUSP00000001583 (fasta)

Gene Model

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

AlphaFold

Q3UKU1

Predicted Effect

probably damaging
Transcript: ENSMUST00000001583
AA Change: H338N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001583
Gene: ENSMUSG00000001542
AA Change: H338N

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGCTGCT	GTGGCTGCTTTGGCTGCT	1: 82,891,293 (GRCm39)		probably benign	Het
Abca15	T	A	7: 119,993,683 (GRCm39)	V1301E	possibly damaging	Het
Adcy10	T	A	1: 165,379,678 (GRCm39)	V980E	probably damaging	Het
Aldh1a2	T	C	9: 71,192,552 (GRCm39)	V469A	probably damaging	Het
Alk	T	A	17: 72,256,808 (GRCm39)	T684S	probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,965 (GRCm39)		probably benign	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
Blm	CCTCCTCC	CCTCCTCCTCCTACTCCTCC	7: 80,162,674 (GRCm39)		probably null	Het
Btnl10	CAAA	CAAAAAA	11: 58,814,752 (GRCm39)		probably benign	Het
Ccdc81	C	A	7: 89,515,906 (GRCm39)		probably null	Het
Cd209g	A	G	8: 4,187,398 (GRCm39)	Y194C	probably benign	Het
Cenpc1	A	T	5: 86,193,228 (GRCm39)	S220R	possibly damaging	Het
Ddx42	A	T	11: 106,123,630 (GRCm39)		probably null	Het
Dock4	GTGCCGGTGCCCGT	G	12: 40,894,398 (GRCm39)		probably null	Het
Eif5b	A	T	1: 38,060,673 (GRCm39)		probably null	Het
Entpd2	CTT	CTTT	2: 25,290,907 (GRCm39)		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACGCACTCCTGGTGT	17: 23,981,140 (GRCm39)		probably null	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	19: 11,489,106 (GRCm39)		probably null	Het
Gnat2	T	C	3: 108,003,645 (GRCm39)	S107P	unknown	Het
Guk1	T	A	11: 59,077,234 (GRCm39)	D70V	probably benign	Het
Itpkb	C	T	1: 180,160,887 (GRCm39)	R338W	probably damaging	Het
Krtap28-10	ACCACAGCCACAGCCACCACAGCCACAGCC	ACCACAGCCACAGCCCCCACAGCCACAGCCACCACAGCCACAGCC	1: 83,019,974 (GRCm39)		probably benign	Het
Lamp3	A	C	16: 19,520,000 (GRCm39)	I61R	probably benign	Het
Lrch1	GCTGGTGGTGT	G	14: 75,184,995 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 41,000,919 (GRCm39)	E2216K		Het
Lrrc27	A	G	7: 138,806,016 (GRCm39)	D227G	probably benign	Het
Lrrk1	C	T	7: 66,031,250 (GRCm39)	G16E	possibly damaging	Het
Lrrtm1	T	A	6: 77,221,334 (GRCm39)	S264T	possibly damaging	Het
Lypd8	CCAATCACCAACA	CCAATCACCAACAGTTTCCTCGCCTCTGTTACCCCACCAATCACCAACA	11: 58,281,058 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGAAG	X: 70,162,455 (GRCm39)		probably benign	Het
Mpo	G	C	11: 87,688,465 (GRCm39)	A375P	probably damaging	Het
Myo9a	A	G	9: 59,776,869 (GRCm39)	H1089R	probably benign	Het
Nalf2	CGCCGC	CGCCGCTGCCGC	X: 98,864,967 (GRCm39)		probably benign	Het
Ndufc2	T	C	7: 97,056,228 (GRCm39)	*109Q	probably null	Het
Nudt16	A	T	9: 105,008,898 (GRCm39)	Y28N	probably damaging	Het
Nudt4	A	T	10: 95,385,675 (GRCm39)		probably null	Het
Nusap1	AGATACACGTTAGCAGTGAGGAGCAAGCTG	AGATACACGTTAGCAGTGAGGAGCAAGCTGCGATACACGTTAGCAGTGAGGAGCAAGCTG	2: 119,458,059 (GRCm39)		probably benign	Het
Or2ag15	T	A	7: 106,340,692 (GRCm39)	I150F	probably benign	Het
P2ry12	T	A	3: 59,124,833 (GRCm39)	T281S	probably benign	Het
P4ha2	TGTTGG	T	11: 54,001,072 (GRCm39)		probably null	Het
Pcnx2	A	G	8: 126,604,258 (GRCm39)	V666A	probably damaging	Het
Pde6a	T	A	18: 61,364,475 (GRCm39)	I177N	possibly damaging	Het
Pgm1	A	T	4: 99,819,500 (GRCm39)		probably null	Het
Plce1	T	A	19: 38,705,651 (GRCm39)	W1019R	probably damaging	Het
Plch1	C	A	3: 63,628,636 (GRCm39)	K542N	probably damaging	Het
Plekhj1	T	C	10: 80,632,471 (GRCm39)	Q113R	not run	Het
Postn	A	T	3: 54,291,913 (GRCm39)	I705F	probably damaging	Het
Ppp1r15b	G	T	1: 133,059,352 (GRCm39)		probably benign	Het
Prkab1	T	C	5: 116,159,689 (GRCm39)	E59G	probably damaging	Het
Qrfprl	T	A	6: 65,433,174 (GRCm39)	Y331*	probably null	Het
Raph1	GG	GGGGG	1: 60,528,426 (GRCm39)		probably benign	Het
Rassf6	AGCAATGGGGATTC	AGCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGATTC	5: 90,756,788 (GRCm39)		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCTCACTC	12: 26,364,013 (GRCm39)		probably benign	Het
Ros1	T	A	10: 52,031,217 (GRCm39)	M484L	probably benign	Het
Rpa1	GCTGCTGCC	GC	11: 75,209,343 (GRCm39)		probably null	Het
Sectm1b	A	G	11: 120,945,756 (GRCm39)	V195A	probably benign	Het
Sirpa	TCATCAG	T	2: 129,451,123 (GRCm39)		probably null	Het
Slc28a1	T	A	7: 80,819,032 (GRCm39)		probably null	Het
Sphk1	G	C	11: 116,425,771 (GRCm39)	S42T	possibly damaging	Het
Spta1	T	C	1: 174,036,885 (GRCm39)	L1132P	probably damaging	Het
Srrt	A	T	5: 137,298,262 (GRCm39)	N303K	probably benign	Het
Ssh2	A	G	11: 77,344,880 (GRCm39)	E955G	probably damaging	Het
Strn	CCAGTC	CCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCACAGTC	17: 78,984,712 (GRCm39)		probably null	Het
Tchhl1	T	C	3: 93,377,691 (GRCm39)	F132L	probably benign	Het
Tex14	A	G	11: 87,405,572 (GRCm39)	E828G	probably benign	Het
Tfeb	CAG	CAGGAG	17: 48,097,020 (GRCm39)		probably benign	Het
Tmtc1	T	C	6: 148,149,009 (GRCm39)	Y699C	probably damaging	Het
Ubn1	A	G	16: 4,882,256 (GRCm39)	Y239C	probably damaging	Het
Vmn2r23	T	G	6: 123,690,075 (GRCm39)	L317R	probably benign	Het
Vmn2r78	C	T	7: 86,603,639 (GRCm39)	R606*	probably null	Het
Vps72	T	G	3: 95,028,719 (GRCm39)		probably null	Het
Zc3h11a	A	G	1: 133,554,853 (GRCm39)	S376P	possibly damaging	Het
Zfp384	GCCCAGGC	GCCCAGGCCCAGTCCCAGGC	6: 125,013,452 (GRCm39)		probably benign	Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,899,745 (GRCm39)		probably benign	Het
Zfp628	TACTCCTCCACCC	T	7: 4,923,948 (GRCm39)		probably benign	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
R7901:Ell2	UTSW	13	75,912,105 (GRCm39)	nonsense	probably null
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
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'- CTCCATTCAGCTTTTGACAGAGG -3'
(R):5'- AACAGGCAGGTCTTGAGTCC -3'

Sequencing Primer
(F):5'- GATTTGGCATTCTTAGAAATGTGTG -3'
(R):5'- CAGGCCTTCTGGAGTGCTAG -3'

Posted On

2019-12-04