Mutagenetix > Incidental Mutation

Incidental Mutation 'R8557:Eri3'

660145

Institutional Source

Beutler Lab

Gene Symbol

Eri3

Ensembl Gene

ENSMUSG00000033423

Gene Name

exoribonuclease 3

Synonyms

PINT1, Prnpip1

MMRRC Submission

068520-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8557 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117407562-117531494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117472520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 113 (S113P)

Ref Sequence

ENSEMBL: ENSMUSP00000115520 (fasta)

Gene Model

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

AlphaFold

Q8C460

Predicted Effect

probably benign
Transcript: ENSMUST00000037127

SMART Domains

Protein: ENSMUSP00000042796
Gene: ENSMUSG00000033423

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: S113P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115520
Gene: ENSMUSG00000033423
AA Change: S113P

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,055,954 (GRCm39)	V230A	probably benign	Het
Ablim2	A	T	5: 35,985,483 (GRCm39)	H260L	probably damaging	Het
Acp4	C	T	7: 43,905,272 (GRCm39)		probably null	Het
Acvr2b	G	T	9: 119,261,654 (GRCm39)	V416L	probably damaging	Het
Adipoq	A	T	16: 22,965,430 (GRCm39)		probably benign	Het
Amhr2	A	G	15: 102,362,847 (GRCm39)	Q538R	probably benign	Het
Apoh	C	T	11: 108,300,062 (GRCm39)	T237I	probably damaging	Het
Aspm	C	T	1: 139,384,494 (GRCm39)	T97I	probably benign	Het
Atg16l2	A	T	7: 100,939,863 (GRCm39)	H499Q	probably benign	Het
Bicdl2	G	A	17: 23,886,536 (GRCm39)	R375H	probably benign	Het
C3	T	C	17: 57,531,383 (GRCm39)	T304A	probably benign	Het
Cast	A	T	13: 74,852,301 (GRCm39)	D647E	probably damaging	Het
Chrm2	T	C	6: 36,501,010 (GRCm39)	V289A	probably benign	Het
Clock	T	C	5: 76,377,217 (GRCm39)	D694G	probably damaging	Het
Cyp4a31	C	T	4: 115,427,438 (GRCm39)	R215C	possibly damaging	Het
Dctn2	T	C	10: 127,114,062 (GRCm39)	L334P	probably damaging	Het
Dnah11	A	G	12: 117,842,247 (GRCm39)	I4444T	probably benign	Het
Egf	C	A	3: 129,548,600 (GRCm39)	R5L	unknown	Het
Ercc1	A	G	7: 19,082,480 (GRCm39)	N11S	probably benign	Het
Fasn	A	G	11: 120,706,610 (GRCm39)	V958A	probably benign	Het
Fgf10	A	G	13: 118,918,132 (GRCm39)	K140R	probably benign	Het
Gfra2	G	A	14: 71,214,737 (GRCm39)	M163I	probably benign	Het
Gm14403	T	C	2: 177,201,354 (GRCm39)	I191T	probably damaging	Het
Hdlbp	T	A	1: 93,341,219 (GRCm39)	E977D	probably damaging	Het
Hectd4	A	G	5: 121,448,714 (GRCm39)	N354S	possibly damaging	Het
Hpgds	A	T	6: 65,096,999 (GRCm39)	I170N	probably benign	Het
Limk2	A	G	11: 3,296,379 (GRCm39)	V356A	possibly damaging	Het
Map4	A	G	9: 109,893,370 (GRCm39)		probably null	Het
Mettl13	C	T	1: 162,371,921 (GRCm39)	G316D	possibly damaging	Het
Mia2	T	A	12: 59,148,274 (GRCm39)	L45I	probably damaging	Het
Mier1	T	A	4: 102,996,543 (GRCm39)		probably null	Het
Mob3a	G	T	10: 80,527,008 (GRCm39)	R106S	probably benign	Het
Mug2	T	A	6: 122,040,660 (GRCm39)	F737I	probably damaging	Het
Myo7a	C	T	7: 97,703,081 (GRCm39)	A2053T	probably benign	Het
Myrip	A	G	9: 120,246,252 (GRCm39)	S127G	probably benign	Het
Naaladl2	T	A	3: 24,262,528 (GRCm39)	K395I	probably benign	Het
Nedd4l	A	T	18: 65,336,986 (GRCm39)	M678L	probably benign	Het
Nefh	A	T	11: 4,891,233 (GRCm39)	I462N	probably damaging	Het
Nfe2	A	G	15: 103,157,025 (GRCm39)	M322T	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2z2	T	A	11: 58,346,562 (GRCm39)	D71V	probably damaging	Het
Or56b1	T	A	7: 104,285,103 (GRCm39)	V74E	possibly damaging	Het
Pkdcc	A	G	17: 83,528,495 (GRCm39)	N288S	probably benign	Het
Sacs	G	A	14: 61,444,725 (GRCm39)	C2257Y	probably damaging	Het
Sec23a	G	T	12: 59,052,056 (GRCm39)	Q90K	probably damaging	Het
Shisal2a	T	A	4: 108,225,085 (GRCm39)	N159I	probably benign	Het
Slc30a6	A	G	17: 74,712,685 (GRCm39)	T61A	possibly damaging	Het
Slc39a11	C	A	11: 113,141,385 (GRCm39)	A234S	probably damaging	Het
Smg6	C	A	11: 75,047,064 (GRCm39)	N1252K	probably damaging	Het
Spata2	A	T	2: 167,326,227 (GRCm39)	D197E	probably damaging	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Spocd1	T	C	4: 129,842,761 (GRCm39)	F59L	probably damaging	Het
Tectb	T	A	19: 55,181,105 (GRCm39)		probably benign	Het
Tnnc1	G	A	14: 30,932,562 (GRCm39)	V82I	probably damaging	Het
Traf7	A	T	17: 24,729,015 (GRCm39)	V513D	probably damaging	Het
Tut4	T	A	4: 108,399,908 (GRCm39)		probably null	Het
Vmn2r111	A	T	17: 22,790,910 (GRCm39)	Y129*	probably null	Het
Vrtn	T	A	12: 84,696,690 (GRCm39)	F480Y	probably benign	Het
Vwa8	A	T	14: 79,246,649 (GRCm39)	I664F	probably damaging	Het
Vwde	A	T	6: 13,193,136 (GRCm39)	V401E	probably damaging	Het
Zfp655	A	T	5: 145,180,835 (GRCm39)	N231I	probably benign	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
R8083:Eri3	UTSW	4	117,450,359 (GRCm39)	missense	probably damaging	1.00
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'- GGGACATGCGTGTTTCTAAC -3'
(R):5'- TCTGAAAGGCTCAACTAGAACC -3'

Sequencing Primer
(F):5'- GACATGCGTGTTTCTAACTTGTTC -3'
(R):5'- GGCTCAACTAGAACCATATTTCTC -3'

Posted On

2021-01-18