Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00417:Eri2'

5139

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eri2

Ensembl Gene

ENSMUSG00000030929

Gene Name

exoribonuclease 2

Synonyms

4933424N09Rik, Exod1

Accession Numbers

Genbank: NM_027698

Is this an essential gene?

Possibly non essential (E-score: 0.343) question?

Stock #

IGL00417

Quality Score

Status

Chromosome

Chromosomal Location

119768679-119794058 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119787741 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 185 (T185I)

Ref Sequence

ENSEMBL: ENSMUSP00000120547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033224] [ENSMUST00000063770] [ENSMUST00000063902] [ENSMUST00000106523] [ENSMUST00000106526] [ENSMUST00000106527] [ENSMUST00000106528] [ENSMUST00000106529] [ENSMUST00000139192] [ENSMUST00000150844]

AlphaFold

Q5BKS4

Predicted Effect

probably benign
Transcript: ENSMUST00000033224

Predicted Effect

probably benign
Transcript: ENSMUST00000063770

SMART Domains

Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	65	478	3.7e-86	PFAM
Pfam:AMP-binding_C	486	566	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063902
AA Change: T185I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000068633
Gene: ENSMUSG00000030929
AA Change: T185I

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: ENSMUST00000106523
AA Change: T185I

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102133
Gene: ENSMUSG00000030929
AA Change: T185I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106526

SMART Domains

Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	65	478	3.7e-86	PFAM
Pfam:AMP-binding_C	486	566	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106527

SMART Domains

Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	65	478	3.7e-86	PFAM
Pfam:AMP-binding_C	486	566	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106528

SMART Domains

Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	65	478	3.7e-86	PFAM
Pfam:AMP-binding_C	486	566	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106529

SMART Domains

Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	65	478	1.1e-78	PFAM
Pfam:AMP-binding_C	486	566	9.3e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133926

Predicted Effect

probably benign
Transcript: ENSMUST00000139192
AA Change: T157I

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117940
Gene: ENSMUSG00000030929
AA Change: T157I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150844
AA Change: T185I

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929
AA Change: T185I

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,423,759	I39M	probably benign	Het
Acoxl	G	A	2: 127,978,804	C92Y	probably damaging	Het
Actl6b	G	T	5: 137,554,637	R76L	probably damaging	Het
Ank	T	C	15: 27,544,351	M66T	possibly damaging	Het
C6	C	T	15: 4,759,967	A298V	possibly damaging	Het
Clip4	A	T	17: 71,849,942	N591Y	probably damaging	Het
Cntnap5b	T	C	1: 100,050,754	I165T	probably damaging	Het
Dennd1b	G	A	1: 139,062,940	R214H	probably damaging	Het
Fbxo33	A	G	12: 59,202,670	V476A	probably damaging	Het
Fer1l4	G	A	2: 156,019,920	R1826*	probably null	Het
Fyb	A	T	15: 6,580,777	K277I	probably damaging	Het
Gli3	C	A	13: 15,644,299	H229N	probably damaging	Het
Hmcn1	T	C	1: 150,677,278	I2554V	probably benign	Het
Maml2	A	T	9: 13,621,604		probably benign	Het
Map4k4	T	C	1: 40,014,532	F930L	possibly damaging	Het
Mmadhc	T	C	2: 50,289,031	D125G	probably benign	Het
Nipbl	A	G	15: 8,366,673	S139P	probably damaging	Het
Obscn	A	G	11: 59,006,788	L6647P	unknown	Het
Ppara	C	A	15: 85,801,067	H406N	probably benign	Het
Psg27	T	A	7: 18,561,917	H201L	probably benign	Het
Qser1	A	T	2: 104,786,903	I1188N	probably damaging	Het
Rc3h1	T	C	1: 160,955,981		probably null	Het
Sept2	C	T	1: 93,499,142	H158Y	probably damaging	Het
Snx9	C	A	17: 5,891,897	Q100K	probably benign	Het
Spata5	A	G	3: 37,451,802	I677V	possibly damaging	Het
Thnsl2	G	A	6: 71,131,900	T309I	probably damaging	Het
Thsd7b	A	G	1: 129,595,834	R125G	probably damaging	Het
Tmem62	T	G	2: 121,006,964		probably null	Het
Tnpo3	A	T	6: 29,578,461		probably null	Het
Trpc6	A	T	9: 8,680,438	D889V	probably damaging	Het
Tubgcp6	C	A	15: 89,104,008	V913L	probably benign	Het
Uox	A	T	3: 146,627,810	M255L	probably benign	Het

Other mutations in Eri2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0378:Eri2	UTSW	7	119793916	critical splice donor site	probably null
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
R8551:Eri2	UTSW	7	119787839	splice site	probably null
R9710:Eri2	UTSW	7	119785601	missense	probably benign
R9720:Eri2	UTSW	7	119787753	missense	probably damaging	1.00

Posted On

2012-04-20