Mutagenetix > Incidental Mutation

Incidental Mutation 'R8083:Eri3'

629461

Institutional Source

Beutler Lab

Gene Symbol

Eri3

Ensembl Gene

ENSMUSG00000033423

Gene Name

exoribonuclease 3

Synonyms

PINT1, Prnpip1

MMRRC Submission

067516-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117407562-117531494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117450359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 253 (M253K)

Ref Sequence

ENSEMBL: ENSMUSP00000042796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037127] [ENSMUST00000125312]

AlphaFold

Q8C460

Predicted Effect

probably damaging
Transcript: ENSMUST00000037127
AA Change: M253K

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

SMART Domains

Protein: ENSMUSP00000042796
Gene: ENSMUSG00000033423
AA Change: M253K

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	124	135	N/A	INTRINSIC
EXOIII	145	329	1.17e-42	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125312
AA Change: M61K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115520
Gene: ENSMUSG00000033423
AA Change: M61K

Domain	Start	End	E-Value	Type
Pfam:RNase_T	1	100	3.5e-17	PFAM

Meta Mutation Damage Score

0.8011

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	G	2: 152,282,987 (GRCm39)	E255G	possibly damaging	Het
Abcg5	A	T	17: 84,965,971 (GRCm39)	L635Q	probably damaging	Het
Acsl3	G	A	1: 78,669,844 (GRCm39)	D238N	probably damaging	Het
Adam32	A	T	8: 25,362,752 (GRCm39)	C558S	probably damaging	Het
Adamtsl4	C	T	3: 95,591,711 (GRCm39)	V126M	possibly damaging	Het
Apobec1	G	A	6: 122,555,888 (GRCm39)	P190S	probably damaging	Het
Arel1	A	T	12: 84,987,136 (GRCm39)	H93Q	probably benign	Het
Bpifa2	T	G	2: 153,852,412 (GRCm39)	V96G	probably damaging	Het
Cacna1s	G	A	1: 136,023,529 (GRCm39)	V923I	possibly damaging	Het
Caprin2	A	C	6: 148,744,346 (GRCm39)	Y1026*	probably null	Het
Cdk8	T	G	5: 146,205,100 (GRCm39)	W34G	probably damaging	Het
Cdkn3	A	T	14: 47,000,058 (GRCm39)	Q28L	probably benign	Het
Cfap58	A	G	19: 47,971,957 (GRCm39)	E629G	probably damaging	Het
Chaf1b	T	A	16: 93,691,630 (GRCm39)	C255S	probably damaging	Het
Clcn4	A	G	7: 7,294,427 (GRCm39)	F445L	possibly damaging	Het
Cpne6	A	C	14: 55,750,698 (GRCm39)	I140L	probably benign	Het
Cyp2b23	C	A	7: 26,385,828 (GRCm39)	A10S	possibly damaging	Het
Eci3	G	T	13: 35,140,873 (GRCm39)	T103K	probably benign	Het
Gm21103	C	T	14: 17,482,895 (GRCm39)	V169M	possibly damaging	Het
Gm6594	G	A	17: 82,846,897 (GRCm39)	A71T	probably benign	Het
Gns	T	C	10: 121,214,008 (GRCm39)	S228P	probably damaging	Het
Hbegf	A	T	18: 36,648,224 (GRCm39)	S46T	probably benign	Het
Hcn1	GCAACAACA	GCAACAACAACA	13: 118,112,296 (GRCm39)		probably benign	Het
Mcf2l	T	A	8: 13,057,875 (GRCm39)		probably null	Het
Nfasc	T	C	1: 132,524,320 (GRCm39)	D846G	probably benign	Het
Nt5dc2	A	G	14: 30,856,783 (GRCm39)	Y103C	probably damaging	Het
Osbpl9	C	T	4: 108,943,572 (GRCm39)	V147M	possibly damaging	Het
Pid1	T	C	1: 84,015,970 (GRCm39)	I146V	probably benign	Het
Rangap1	A	G	15: 81,603,101 (GRCm39)	I108T	probably benign	Het
Rbm12b1	T	C	4: 12,146,409 (GRCm39)	Y794H	probably damaging	Het
Rprd1b	T	C	2: 157,892,052 (GRCm39)	S192P	probably damaging	Het
Sacs	A	T	14: 61,448,166 (GRCm39)	D3404V	possibly damaging	Het
Setd5	G	T	6: 113,091,971 (GRCm39)	G264V	probably damaging	Het
Tagln2	A	T	1: 172,332,766 (GRCm39)	I18F	possibly damaging	Het
Tex51	T	C	18: 32,591,807 (GRCm39)		probably null	Het
Ttc17	C	A	2: 94,204,909 (GRCm39)	V338F	probably damaging	Het
Xirp2	T	A	2: 67,339,043 (GRCm39)	M428K	possibly damaging	Het
Zfp503	A	T	14: 22,036,132 (GRCm39)	D261E	probably damaging	Het
Zfp784	T	C	7: 5,038,905 (GRCm39)	T218A	possibly damaging	Het
Zp3	A	C	5: 136,013,376 (GRCm39)	D236A	probably damaging	Het

Other mutations in Eri3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00678:Eri3	APN	4	117,422,088 (GRCm39)	missense	probably benign	0.00
IGL01392:Eri3	APN	4	117,446,356 (GRCm39)	critical splice donor site	probably null
IGL01781:Eri3	APN	4	117,421,874 (GRCm39)	missense	probably benign	0.00
IGL02737:Eri3	APN	4	117,422,057 (GRCm39)	missense	probably damaging	1.00
IGL02969:Eri3	APN	4	117,506,508 (GRCm39)	missense	probably damaging	1.00
chewed_out	UTSW	4	117,506,604 (GRCm39)	critical splice donor site	probably null
PIT4280001:Eri3	UTSW	4	117,439,831 (GRCm39)	missense	probably damaging	1.00
R0720:Eri3	UTSW	4	117,410,242 (GRCm39)	critical splice donor site	probably null
R0993:Eri3	UTSW	4	117,421,860 (GRCm39)	missense	possibly damaging	0.85
R1331:Eri3	UTSW	4	117,422,104 (GRCm39)	splice site	probably benign
R1538:Eri3	UTSW	4	117,439,836 (GRCm39)	missense	possibly damaging	0.92
R1854:Eri3	UTSW	4	117,506,562 (GRCm39)	missense	probably benign	0.01
R1971:Eri3	UTSW	4	117,421,964 (GRCm39)	missense	probably benign	0.10
R5340:Eri3	UTSW	4	117,530,991 (GRCm39)	missense	probably damaging	0.99
R5511:Eri3	UTSW	4	117,472,386 (GRCm39)	missense	possibly damaging	0.90
R5569:Eri3	UTSW	4	117,506,553 (GRCm39)	missense	possibly damaging	0.90
R6052:Eri3	UTSW	4	117,421,825 (GRCm39)	missense	probably damaging	0.99
R7140:Eri3	UTSW	4	117,506,604 (GRCm39)	critical splice donor site	probably null
R7187:Eri3	UTSW	4	117,446,343 (GRCm39)	missense	probably benign	0.03
R7268:Eri3	UTSW	4	117,506,580 (GRCm39)	missense	probably benign
R8557:Eri3	UTSW	4	117,472,520 (GRCm39)	missense	possibly damaging	0.73
R9430:Eri3	UTSW	4	117,439,868 (GRCm39)	nonsense	probably null
R9563:Eri3	UTSW	4	117,422,013 (GRCm39)	missense	probably benign	0.15
R9565:Eri3	UTSW	4	117,422,013 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TAGCTGCAGGTCACTGTTG -3'
(R):5'- AGGGTTAACAACAGCAGTGC -3'

Sequencing Primer
(F):5'- CAGGTCACTGTTGCGCTTGC -3'
(R):5'- CCCTGCCCTATTCCAGAGACG -3'

Posted On

2020-06-30