Mutagenetix > Incidental Mutation

Incidental Mutation 'R8099:Ell3'

630375

Institutional Source

Beutler Lab

Gene Symbol

Ell3

Ensembl Gene

ENSMUSG00000027246

Gene Name

elongation factor RNA polymerase II-like 3

Synonyms

MMRRC Submission

067531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8099 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

121269508-121273082 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

TCTCCTC to TCTC at 121269937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q80VR2

Predicted Effect

probably benign
Transcript: ENSMUST00000028679

SMART Domains

Protein: ENSMUSP00000028679
Gene: ENSMUSG00000027246

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

SMART Domains

Protein: ENSMUSP00000112133
Gene: ENSMUSG00000027246

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,394,969 (GRCm39)	R62G	probably benign	Het
Abcb9	A	G	5: 124,215,308 (GRCm39)	F478L	probably benign	Het
Abcc9	A	T	6: 142,621,257 (GRCm39)	N494K	probably damaging	Het
Atp11a	T	G	8: 12,911,973 (GRCm39)	M124R		Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc110	T	A	8: 46,395,130 (GRCm39)	H340Q	probably damaging	Het
Celsr1	A	G	15: 85,915,801 (GRCm39)	L724P	probably damaging	Het
Cfap74	A	G	4: 155,539,489 (GRCm39)	N938S	unknown	Het
Chil3	T	G	3: 106,055,984 (GRCm39)	D363A	probably damaging	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Cpne3	A	G	4: 19,525,169 (GRCm39)	V442A	possibly damaging	Het
Ctsh	T	C	9: 89,946,300 (GRCm39)	V130A	probably damaging	Het
Cyp3a44	T	C	5: 145,725,212 (GRCm39)	K330E	probably benign	Het
Dgcr2	A	T	16: 17,667,633 (GRCm39)	D275E	probably damaging	Het
Dnah1	A	T	14: 31,024,321 (GRCm39)	D919E	probably benign	Het
Entrep3	T	C	3: 89,091,250 (GRCm39)	F74L	probably damaging	Het
Epb41l3	T	A	17: 69,554,683 (GRCm39)	F261Y	possibly damaging	Het
Fbxo3	A	C	2: 103,885,280 (GRCm39)	H383P	probably damaging	Het
Foxp1	C	T	6: 98,922,510 (GRCm39)	V441M	unknown	Het
Gm29106	C	T	1: 118,126,521 (GRCm39)	S71F	probably benign	Het
Golga3	T	A	5: 110,336,573 (GRCm39)	L364*	probably null	Het
H1f1	C	T	13: 23,947,832 (GRCm39)	L45F	probably damaging	Het
Herc1	T	A	9: 66,279,422 (GRCm39)	L110H	probably damaging	Het
Igkv4-53	A	T	6: 69,625,898 (GRCm39)	S90T	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kti12	G	T	4: 108,705,571 (GRCm39)	G162W	probably damaging	Het
Lama3	T	A	18: 12,667,120 (GRCm39)	I763N	probably damaging	Het
Macf1	A	T	4: 123,369,922 (GRCm39)	I1613K	probably benign	Het
Mkrn1	T	C	6: 39,387,031 (GRCm39)	D102G	probably benign	Het
Muc2	T	A	7: 141,299,175 (GRCm39)		probably null	Het
Nipal4	T	C	11: 46,052,848 (GRCm39)	E39G	probably benign	Het
Nr1h2	T	C	7: 44,199,746 (GRCm39)	Y391C	possibly damaging	Het
Odam	T	C	5: 88,040,299 (GRCm39)	I255T	possibly damaging	Het
Or11m3	A	G	15: 98,395,694 (GRCm39)	M114V	probably benign	Het
Or6c35	T	A	10: 129,168,996 (GRCm39)	I82K	probably damaging	Het
Or9m1	T	A	2: 87,733,852 (GRCm39)	H56L	probably damaging	Het
Per3	A	T	4: 151,097,014 (GRCm39)	M837K	possibly damaging	Het
Pitpnm3	T	A	11: 71,961,144 (GRCm39)	H357L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plcb1	T	C	2: 135,093,654 (GRCm39)	Y156H	possibly damaging	Het
Ppm1d	C	T	11: 85,230,492 (GRCm39)	P370L	possibly damaging	Het
Prrc2b	T	C	2: 32,098,686 (GRCm39)	V666A	probably benign	Het
Ptpn3	A	T	4: 57,204,985 (GRCm39)	C725*	probably null	Het
Rapgefl1	T	C	11: 98,738,209 (GRCm39)	W437R	probably damaging	Het
Sema4g	T	C	19: 44,980,967 (GRCm39)	L5P	probably damaging	Het
Sipa1l1	C	T	12: 82,480,600 (GRCm39)	P1529L	probably benign	Het
Slc12a2	T	C	18: 58,032,464 (GRCm39)	L388P	probably damaging	Het
Sltm	T	A	9: 70,493,360 (GRCm39)	S786T	probably damaging	Het
Srsf1	T	C	11: 87,940,082 (GRCm39)	I198T	probably benign	Het
Ssh2	C	T	11: 77,345,755 (GRCm39)	R1247*	probably null	Het
Ssu2	T	C	6: 112,353,438 (GRCm39)	T229A	probably benign	Het
Stra6	T	A	9: 58,059,777 (GRCm39)	H579Q	probably damaging	Het
Tanc2	T	A	11: 105,754,833 (GRCm39)	V559E	probably benign	Het
Trp53bp1	A	G	2: 121,030,230 (GRCm39)	Y1762H	probably damaging	Het
Usp15	T	C	10: 122,982,826 (GRCm39)	Y263C	possibly damaging	Het
Usp17ld	A	T	7: 102,899,495 (GRCm39)	V479E	probably damaging	Het
Vmn2r15	A	T	5: 109,441,185 (GRCm39)	S224R	possibly damaging	Het
Vmn2r8	A	T	5: 108,949,700 (GRCm39)	N382K	probably benign	Het
Vmn2r94	T	C	17: 18,477,659 (GRCm39)	I251V	probably benign	Het
Wnt2b	A	T	3: 104,854,408 (GRCm39)	V350D	possibly damaging	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
R1880:Ell3	UTSW	2	121,270,792 (GRCm39)	missense	probably benign	0.28
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
R8100:Ell3	UTSW	2	121,269,937 (GRCm39)	utr 3 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAGGAGATGATACCATGCCC -3'
(R):5'- GTGCTGGAAGACAAGATAGTCC -3'

Sequencing Primer
(F):5'- GGAGATGATACCATGCCCACACC -3'
(R):5'- TCCAGGAGTATAAAAAGTTCAGAAAG -3'

Posted On

2020-06-30