Mutagenetix > Incidental Mutations

Incidental Mutation 'R0378:Eri2'

36466

Institutional Source

Beutler Lab

Gene Symbol

Eri2

Ensembl Gene

ENSMUSG00000030929

Gene Name

exoribonuclease 2

Synonyms

4933424N09Rik, Exod1

MMRRC Submission

038584-MU

Accession Numbers

Genbank: NM_027698

Is this an essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R0378 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

119768679-119794058 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 119793916 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033218] [ENSMUST00000033224] [ENSMUST00000063902] [ENSMUST00000084644] [ENSMUST00000106520] [ENSMUST00000106523] [ENSMUST00000133758] [ENSMUST00000139192] [ENSMUST00000150844]

Predicted Effect

probably benign
Transcript: ENSMUST00000033218

SMART Domains

Protein: ENSMUSP00000033218
Gene: ENSMUSG00000030924

Domain	Start	End	E-Value	Type
low complexity region	105	116	N/A	INTRINSIC
low complexity region	123	134	N/A	INTRINSIC
Pfam:RNase_T	225	330	1.4e-12	PFAM
Blast:RRM	424	463	5e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000033224

Predicted Effect

probably benign
Transcript: ENSMUST00000063902

SMART Domains

Protein: ENSMUSP00000068633
Gene: ENSMUSG00000030929

Domain	Start	End	E-Value	Type
EXOIII	36	235	1.41e-13	SMART
transmembrane domain	245	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084644

SMART Domains

Protein: ENSMUSP00000081694
Gene: ENSMUSG00000030924

Domain	Start	End	E-Value	Type
EXOIII	31	189	2.72e-29	SMART
RRM	298	367	3.23e-9	SMART
Blast:RRM	393	437	2e-22	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000106520

SMART Domains

Protein: ENSMUSP00000102130
Gene: ENSMUSG00000030924

Domain	Start	End	E-Value	Type
low complexity region	105	116	N/A	INTRINSIC
low complexity region	123	134	N/A	INTRINSIC
EXOIII	223	381	2.72e-29	SMART
RRM	491	560	3.23e-9	SMART
RRM	586	661	3.28e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106523

SMART Domains

Protein: ENSMUSP00000102133
Gene: ENSMUSG00000030929

Domain	Start	End	E-Value	Type
EXOIII	36	235	1.41e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125595

Predicted Effect

probably benign
Transcript: ENSMUST00000133758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137015

Predicted Effect

probably benign
Transcript: ENSMUST00000139192

SMART Domains

Protein: ENSMUSP00000117940
Gene: ENSMUSG00000030929

Domain	Start	End	E-Value	Type
Pfam:RNase_T	21	160	1.2e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000150844

SMART Domains

Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929

Domain	Start	End	E-Value	Type
EXOIII	36	235	1.41e-13	SMART
low complexity region	362	381	N/A	INTRINSIC
Pfam:zf-GRF	592	640	1.4e-21	PFAM

Meta Mutation Damage Score

0.9478

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 94.8%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 113,743,117	R651L	probably damaging	Het
Amd1	T	C	10: 40,289,384	D317G	possibly damaging	Het
Artn	A	G	4: 117,927,618		probably benign	Het
Asna1	A	T	8: 85,025,264	M1K	probably null	Het
Bub1b	T	A	2: 118,641,123	V988E	probably benign	Het
Cyp2c65	G	T	19: 39,073,218	C216F	probably benign	Het
Cyp3a11	T	C	5: 145,868,607	E200G	probably benign	Het
Cyp3a25	T	A	5: 145,986,842	K330N	probably damaging	Het
Duox2	C	A	2: 122,284,583	V1138L	probably benign	Het
Erc2	A	G	14: 28,011,694	D567G	probably damaging	Het
Foxa3	A	G	7: 19,023,369	Y17H	probably damaging	Het
Fto	T	C	8: 91,474,312	S324P	probably damaging	Het
Gls2	T	G	10: 128,207,311	L457R	probably benign	Het
Gstcd	A	T	3: 132,986,408	L582H	probably damaging	Het
Gtf3c1	G	A	7: 125,647,614	R1508*	probably null	Het
Kif21a	T	C	15: 90,969,774		probably null	Het
Klra5	A	T	6: 129,906,614	D93E	possibly damaging	Het
Lgr5	T	C	10: 115,454,499	D456G	probably damaging	Het
Mau2	A	G	8: 70,030,655	S186P	probably damaging	Het
Msr1	T	C	8: 39,589,382	D384G	possibly damaging	Het
Mum1	C	A	10: 80,238,879		probably null	Het
Ncf4	T	C	15: 78,253,303	V93A	probably damaging	Het
Oas1f	T	G	5: 120,856,426	C337G	probably damaging	Het
Olfr119	A	G	17: 37,701,041	M124V	probably damaging	Het
Olfr482	A	T	7: 108,095,222	F116Y	probably benign	Het
Olfr820	T	A	10: 130,018,003	L214H	probably damaging	Het
Rasl10b	T	C	11: 83,418,693	S159P	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Smg8	C	A	11: 87,080,423	D841Y	probably damaging	Het
Sox7	T	C	14: 63,943,949	V65A	probably damaging	Het
Sp140	C	T	1: 85,620,051		probably benign	Het
Srsf10	A	G	4: 135,863,190	Y142C	possibly damaging	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tcerg1l	A	G	7: 138,276,655	V326A	probably benign	Het
Tcl1b5	T	A	12: 105,179,067	W97R	probably damaging	Het
Tmem108	T	C	9: 103,499,657	R198G	possibly damaging	Het
Ube2ql1	T	A	13: 69,738,898	Q148L	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,585	I82L	probably benign	Het
Wdr6	A	T	9: 108,575,864	S273R	probably damaging	Het
Ylpm1	C	T	12: 84,997,076		probably benign	Het
Zfp90	G	A	8: 106,425,506	R617Q	possibly damaging	Het

Other mutations in Eri2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Eri2	APN	7	119787741	missense	probably benign	0.44
IGL00987:Eri2	APN	7	119791166	missense	probably damaging	1.00
IGL01139:Eri2	APN	7	119786737	critical splice donor site	probably null
IGL01476:Eri2	APN	7	119790249	missense	probably damaging	1.00
IGL02019:Eri2	APN	7	119786080	nonsense	probably null
IGL02208:Eri2	APN	7	119785935	missense	probably benign	0.00
IGL02395:Eri2	APN	7	119787810	missense	probably damaging	0.98
IGL02405:Eri2	APN	7	119785482	missense	probably damaging	1.00
IGL02646:Eri2	APN	7	119786108	missense	possibly damaging	0.87
IGL02659:Eri2	APN	7	119787442	missense	probably damaging	0.98
alien	UTSW	7	119791174	missense	probably damaging	1.00
extraterrestrial	UTSW	7	119793916	critical splice donor site	probably null
G5030:Eri2	UTSW	7	119786378	missense	possibly damaging	0.58
K7894:Eri2	UTSW	7	119785271	missense	probably benign	0.39
PIT4434001:Eri2	UTSW	7	119786301	missense	probably benign	0.00
R0152:Eri2	UTSW	7	119790383	missense	probably damaging	1.00
R0532:Eri2	UTSW	7	119785983	missense	probably benign	0.22
R0630:Eri2	UTSW	7	119786417	missense	probably benign	0.27
R1192:Eri2	UTSW	7	119792317	missense	probably damaging	1.00
R1416:Eri2	UTSW	7	119791174	missense	probably damaging	1.00
R1884:Eri2	UTSW	7	119791123	missense	probably benign	0.12
R2173:Eri2	UTSW	7	119786543	missense	possibly damaging	0.67
R2961:Eri2	UTSW	7	119785344	missense	probably benign
R3805:Eri2	UTSW	7	119786008	nonsense	probably null
R3807:Eri2	UTSW	7	119786008	nonsense	probably null
R4534:Eri2	UTSW	7	119790243	missense	probably damaging	1.00
R4738:Eri2	UTSW	7	119787732	critical splice donor site	probably null
R4776:Eri2	UTSW	7	119784946	utr 3 prime	probably benign
R4780:Eri2	UTSW	7	119785680	missense	probably benign	0.43
R5037:Eri2	UTSW	7	119785674	missense	probably benign
R5260:Eri2	UTSW	7	119787846	splice site	probably benign
R5315:Eri2	UTSW	7	119786018	missense	probably benign	0.00
R5884:Eri2	UTSW	7	119772329	makesense	probably null
R5927:Eri2	UTSW	7	119786068	missense	probably damaging	1.00
R6937:Eri2	UTSW	7	119786789	missense	probably damaging	0.96
R7296:Eri2	UTSW	7	119786516	nonsense	probably null
R7302:Eri2	UTSW	7	119786786	missense	probably benign	0.38
R7480:Eri2	UTSW	7	119786511	nonsense	probably null
R7494:Eri2	UTSW	7	119786081	missense	probably damaging	0.99
R7524:Eri2	UTSW	7	119785749	missense	probably benign	0.00
R8187:Eri2	UTSW	7	119785544	missense	probably damaging	1.00
R8373:Eri2	UTSW	7	119772597	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGAGAACAGTGTGCAGAGCTGTC -3'
(R):5'- AATATGCGAAGGAGGTCCATCCCG -3'

Sequencing Primer
(F):5'- TCCCAGGGGTCTAGAATGAAC -3'
(R):5'- GTCTCTTGAAGCGGCTCAAAC -3'

Posted On

2013-05-09