Mutagenetix > Incidental Mutation

Incidental Mutation 'R3807:Eri2'

274974

Institutional Source

Beutler Lab

Gene Symbol

Eri2

Ensembl Gene

ENSMUSG00000030929

Gene Name

exoribonuclease 2

Synonyms

4933424N09Rik, Exod1

MMRRC Submission

040764-MU

Accession Numbers

Genbank: NM_027698

Essential gene?

Possibly non essential (E-score: 0.381) question?

Stock #

R3807 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119768679-119794058 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 119786008 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 423 (C423*)

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

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: ENSMUST00000106523

SMART Domains

Protein: ENSMUSP00000102133
Gene: ENSMUSG00000030929

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

SMART Domains

Protein: ENSMUSP00000117940
Gene: ENSMUSG00000030929

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149598

Predicted Effect

probably null
Transcript: ENSMUST00000150844
AA Change: C423*

SMART Domains

Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929
AA Change: C423*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154828

Meta Mutation Damage Score

0.9645

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	T	8: 111,990,370	W2R	probably damaging	Het
Arhgap42	A	G	9: 9,008,033	I563T	probably damaging	Het
Armcx1	T	C	X: 134,721,265	V372A	probably damaging	Het
Bicd1	T	A	6: 149,518,991	L780M	probably damaging	Het
Bpifb1	C	A	2: 154,214,002	N329K	probably benign	Het
Ccdc113	A	T	8: 95,542,653	N193I	probably damaging	Het
Cebpz	A	T	17: 78,935,418	L269Q	probably damaging	Het
Cttn	C	T	7: 144,445,851	V290M	probably damaging	Het
Ctu1	T	C	7: 43,676,673	L252P	probably damaging	Het
Dmbt1	T	A	7: 131,112,090	M1455K	possibly damaging	Het
Eme1	A	G	11: 94,650,592	W135R	probably damaging	Het
Entpd7	T	G	19: 43,725,540		probably null	Het
Erich1	T	C	8: 14,033,695	N125S	probably benign	Het
Fam149a	T	A	8: 45,381,610	T51S	possibly damaging	Het
Fam71b	G	A	11: 46,404,953	A51T	possibly damaging	Het
Fer1l4	C	T	2: 156,045,683	G531D	probably damaging	Het
Frem2	A	T	3: 53,653,449	D1212E	probably benign	Het
Get4	G	T	5: 139,252,531	V23F	probably damaging	Het
Gm11595	C	T	11: 99,772,554	R100H	unknown	Het
Gria1	T	C	11: 57,310,678	W712R	probably damaging	Het
Herc2	A	G	7: 56,207,809	N4047D	probably damaging	Het
Hoxc9	A	G	15: 102,981,684	Y11C	possibly damaging	Het
Lama2	GCCC	GCC	10: 27,190,665		probably null	Het
Lrrc56	A	G	7: 141,209,385	T393A	probably benign	Het
Lrrc7	T	C	3: 158,185,493	I346V	probably benign	Het
Med14	T	C	X: 12,687,177	Y463C	probably damaging	Het
Nalcn	T	A	14: 123,278,187	D1734V	probably damaging	Het
Nfe2l3	A	T	6: 51,457,377	R306*	probably null	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,081,352		probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,081,359		probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,081,371		probably benign	Het
Npr1	A	T	3: 90,458,726	V586E	probably damaging	Het
Olfr192	A	C	16: 59,098,843	*50G	probably null	Het
Olfr715b	A	G	7: 107,106,463	S133P	probably benign	Het
Pcdhb4	T	C	18: 37,309,314	F559S	probably damaging	Het
Psmd12	T	G	11: 107,495,765	D387E	probably benign	Het
Psme4	T	A	11: 30,856,027		probably null	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rgs11	A	T	17: 26,203,500	I69F	probably damaging	Het
Ryr1	C	T	7: 29,020,152	A4277T	probably damaging	Het
Setbp1	C	T	18: 78,783,322	V1359I	probably benign	Het
Sis	A	T	3: 72,925,596	V956E	probably benign	Het
Slc35f3	T	A	8: 126,389,239	W302R	probably damaging	Het
Syt16	A	G	12: 74,229,398	E212G	possibly damaging	Het
Tdp2	C	A	13: 24,831,793	S21*	probably null	Het
Tfrc	A	T	16: 32,616,826	N173I	possibly damaging	Het
Tmem132b	A	T	5: 125,787,580	I917F	probably damaging	Het
Vbp1	T	C	X: 75,523,342	V122A	probably damaging	Het
Vmn1r225	G	A	17: 20,502,852	W185*	probably null	Het
Vmn1r70	A	G	7: 10,633,788	T68A	probably benign	Het
Zfp518a	A	G	19: 40,914,797	K1057E	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATCCGAACCTGGGTGTTTG -3'
(R):5'- GTAAAAGTGATCAGCTTGCACTG -3'

Sequencing Primer
(F):5'- CATCATAGACTGTACTGTGAGGACTC -3'
(R):5'- TGAATGACAGCTCAAAGTCCTC -3'

Posted On

2015-04-02