Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01781:Eri3'

153924

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eri3

Ensembl Gene

ENSMUSG00000033423

Gene Name

exoribonuclease 3

Synonyms

PINT1, Prnpip1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01781

Quality Score

Status

Chromosome

Chromosomal Location

117550365-117674297 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117564677 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 51 (F51L)

Ref Sequence

ENSEMBL: ENSMUSP00000117034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037127] [ENSMUST00000144373]

Predicted Effect

probably benign
Transcript: ENSMUST00000037127
AA Change: F90L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042796
Gene: ENSMUSG00000033423
AA Change: F90L

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

probably benign
Transcript: ENSMUST00000144373
AA Change: F51L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117034
Gene: ENSMUSG00000033423
AA Change: F51L

Domain	Start	End	E-Value	Type
low complexity region	85	96	N/A	INTRINSIC
Pfam:RNase_T	108	163	3.7e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146384

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,399,280	I3618N	probably damaging	Het
Acss1	A	G	2: 150,637,872	L305P	probably damaging	Het
Alox12e	A	T	11: 70,321,456	L132Q	probably damaging	Het
Atp6v0a4	T	C	6: 38,074,160	N428D	possibly damaging	Het
Ccdc80	C	T	16: 45,126,130	H811Y	probably damaging	Het
Cgn	T	C	3: 94,773,205	M596V	probably benign	Het
Cpn1	T	A	19: 43,966,218	E323V	possibly damaging	Het
Cul9	A	G	17: 46,539,304	S447P	probably benign	Het
Cyp2f2	A	T	7: 27,130,421	Y182F	probably benign	Het
Dnajc13	T	C	9: 104,162,359	M2104V	possibly damaging	Het
Fgd5	A	G	6: 91,988,717	S486G	possibly damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gm13101	C	A	4: 143,965,729	C234F	probably benign	Het
Ifna4	T	C	4: 88,842,152	S98P	probably damaging	Het
Impg2	A	G	16: 56,252,225	K340R	probably benign	Het
Man2b2	T	C	5: 36,813,745	N759S	possibly damaging	Het
Mfsd1	A	G	3: 67,587,911		probably benign	Het
Olfr716	T	A	7: 107,147,696	C127S	probably damaging	Het
Pdcd6ip	G	T	9: 113,691,498	N139K	probably damaging	Het
Peak1	A	T	9: 56,260,065	I193N	possibly damaging	Het
Psg27	T	A	7: 18,565,064	T111S	probably damaging	Het
Ptprs	G	A	17: 56,435,676	L489F	probably damaging	Het
Rpgrip1l	A	G	8: 91,270,218	V76A	probably benign	Het
Scd1	A	T	19: 44,400,348	M221K	possibly damaging	Het
Slc38a7	A	G	8: 95,843,758		probably null	Het
Spon2	T	C	5: 33,215,560	D266G	probably benign	Het
Spry4	C	T	18: 38,590,425	G95D	probably damaging	Het
Supt20	A	G	3: 54,695,205	M1V	probably null	Het
Tmem55a	T	C	4: 14,893,566	L143S	probably damaging	Het
Trappc11	A	C	8: 47,514,128	F404V	possibly damaging	Het
Vmn1r178	C	A	7: 23,894,009	Q161K	probably damaging	Het
Vmn2r25	T	C	6: 123,839,365	E419G	possibly damaging	Het
Vstm5	A	G	9: 15,257,672	H146R	probably damaging	Het

Other mutations in Eri3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00678:Eri3	APN	4	117564891	missense	probably benign	0.00
IGL01392:Eri3	APN	4	117589159	critical splice donor site	probably null
IGL02737:Eri3	APN	4	117564860	missense	probably damaging	1.00
IGL02969:Eri3	APN	4	117649311	missense	probably damaging	1.00
chewed_out	UTSW	4	117649407	critical splice donor site	probably null
PIT4280001:Eri3	UTSW	4	117582634	missense	probably damaging	1.00
R0720:Eri3	UTSW	4	117553045	critical splice donor site	probably null
R0993:Eri3	UTSW	4	117564663	missense	possibly damaging	0.85
R1331:Eri3	UTSW	4	117564907	splice site	probably benign
R1538:Eri3	UTSW	4	117582639	missense	possibly damaging	0.92
R1854:Eri3	UTSW	4	117649365	missense	probably benign	0.01
R1971:Eri3	UTSW	4	117564767	missense	probably benign	0.10
R5340:Eri3	UTSW	4	117673794	missense	probably damaging	0.99
R5511:Eri3	UTSW	4	117615189	missense	possibly damaging	0.90
R5569:Eri3	UTSW	4	117649356	missense	possibly damaging	0.90
R6052:Eri3	UTSW	4	117564628	missense	probably damaging	0.99
R7140:Eri3	UTSW	4	117649407	critical splice donor site	probably null
R7187:Eri3	UTSW	4	117589146	missense	probably benign	0.03
R7268:Eri3	UTSW	4	117649383	missense	probably benign

Posted On

2014-02-04