Mutagenetix > Incidental Mutation

Incidental Mutation 'R0052:Xrn2'

15385

Institutional Source

Beutler Lab

Gene Symbol

Xrn2

Ensembl Gene

ENSMUSG00000027433

Gene Name

5'-3' exoribonuclease 2

Synonyms

MMRRC Submission

038346-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R0052 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

147012996-147078000 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 147040965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028921]

AlphaFold

Q9DBR1

Predicted Effect

probably benign
Transcript: ENSMUST00000028921

SMART Domains

Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433

Domain	Start	End	E-Value	Type
Pfam:XRN_N	1	254	1.5e-104	PFAM
ZnF_C2HC	262	278	7.99e-1	SMART
low complexity region	415	427	N/A	INTRINSIC
PDB:3FQD\|A	469	785	8e-75	PDB
low complexity region	913	932	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147057

Coding Region Coverage

1x: 85.5%
3x: 78.2%
10x: 46.7%
20x: 12.5%

Validation Efficiency

90% (62/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 5'-3' exonuclease that promotes transcription termination at cotranscriptional cleavage sites. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	T	C	19: 23,915,951	S438P	possibly damaging	Het
Atp2a1	A	G	7: 126,457,897		probably benign	Het
Bicd2	T	A	13: 49,375,314	L184Q	probably damaging	Het
Bub1	G	A	2: 127,809,039	T618I	probably benign	Het
Dsp	A	G	13: 38,197,364	D2096G	possibly damaging	Het
Eno4	A	G	19: 58,968,553	D357G	probably damaging	Het
Fam214a	A	G	9: 75,018,983		probably benign	Het
Fcrls	A	T	3: 87,256,778	I348N	possibly damaging	Het
Fgl2	A	T	5: 21,375,349	S230C	probably damaging	Het
Ginm1	T	A	10: 7,779,306	E57D	possibly damaging	Het
Itga9	T	A	9: 118,636,549	I157N	probably damaging	Het
Kif21a	T	C	15: 90,970,857	E700G	probably damaging	Het
Mmd	C	T	11: 90,259,998		probably benign	Het
Morn3	T	C	5: 123,046,663	Y38C	probably damaging	Het
Prex2	T	A	1: 11,160,156	L802Q	probably damaging	Het
Psd3	A	G	8: 67,882,979		probably null	Het
Ralgds	T	A	2: 28,544,388		probably null	Het
Rmdn2	A	G	17: 79,650,331	E16G	probably damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a4	A	C	5: 89,156,336	H502P	possibly damaging	Het
Slco3a1	A	T	7: 74,504,326	I166N	probably benign	Het
Snx5	A	T	2: 144,259,192		probably null	Het
Srgap1	T	C	10: 121,800,827	D741G	possibly damaging	Het
St8sia2	G	T	7: 73,943,290	Y339*	probably null	Het
Tdo2	T	A	3: 81,967,025	N210I	probably benign	Het
Thada	A	T	17: 84,455,158	N104K	probably damaging	Het
Timm8b	A	T	9: 50,605,030	D61V	possibly damaging	Het
Trbv12-1	T	C	6: 41,113,916	F74S	possibly damaging	Het
Tshz1	G	A	18: 84,014,945	T446I	possibly damaging	Het
Ubap2l	T	C	3: 90,038,928	N123S	possibly damaging	Het
Usp12	A	G	5: 146,739,104	V336A	possibly damaging	Het
Zfp14	G	T	7: 30,038,328	Q411K	probably damaging	Het

Other mutations in Xrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Xrn2	APN	2	147036750	missense	probably benign	0.00
IGL00950:Xrn2	APN	2	147028146	nonsense	probably null
IGL01323:Xrn2	APN	2	147034847	splice site	probably benign
IGL01328:Xrn2	APN	2	147029930	missense	possibly damaging	0.90
IGL01545:Xrn2	APN	2	147038179	missense	probably benign
IGL01729:Xrn2	APN	2	147036797	critical splice donor site	probably null
IGL01805:Xrn2	APN	2	147028143	missense	probably damaging	0.98
IGL02326:Xrn2	APN	2	147047713	missense	probably benign	0.32
IGL02332:Xrn2	APN	2	147026590	missense	probably damaging	1.00
IGL02556:Xrn2	APN	2	147038296	splice site	probably benign
IGL02609:Xrn2	APN	2	147050025	missense	probably benign	0.00
IGL02941:Xrn2	APN	2	147026524	missense	probably damaging	1.00
IGL03119:Xrn2	APN	2	147042872	missense	probably damaging	1.00
R0114:Xrn2	UTSW	2	147029779	missense	probably damaging	0.98
R0196:Xrn2	UTSW	2	147047660	missense	probably damaging	0.99
R0799:Xrn2	UTSW	2	147029898	missense	probably benign	0.03
R0991:Xrn2	UTSW	2	147042082	missense	probably benign	0.40
R1444:Xrn2	UTSW	2	147061488	missense	probably damaging	0.99
R1727:Xrn2	UTSW	2	147061516	missense	probably benign	0.00
R1735:Xrn2	UTSW	2	147061423	missense	probably damaging	1.00
R1885:Xrn2	UTSW	2	147049361	nonsense	probably null
R2199:Xrn2	UTSW	2	147024750	missense	probably damaging	0.96
R2884:Xrn2	UTSW	2	147047656	missense	probably damaging	1.00
R3730:Xrn2	UTSW	2	147024809	missense	probably benign	0.09
R3771:Xrn2	UTSW	2	147061287	missense	probably benign	0.12
R3772:Xrn2	UTSW	2	147061287	missense	probably benign	0.12
R3773:Xrn2	UTSW	2	147061287	missense	probably benign	0.12
R3816:Xrn2	UTSW	2	147028200	missense	probably damaging	1.00
R3927:Xrn2	UTSW	2	147038189	missense	probably benign
R4173:Xrn2	UTSW	2	147047692	missense	probably damaging	0.96
R4659:Xrn2	UTSW	2	147061474	missense	probably benign	0.01
R4928:Xrn2	UTSW	2	147051718	missense	possibly damaging	0.80
R5452:Xrn2	UTSW	2	147024713	critical splice acceptor site	probably null
R5527:Xrn2	UTSW	2	147029755	missense	probably benign	0.02
R6297:Xrn2	UTSW	2	147026570	missense	probably damaging	1.00
R6301:Xrn2	UTSW	2	147063342	missense	probably benign	0.05
R6316:Xrn2	UTSW	2	147042010	missense	probably damaging	1.00
R6705:Xrn2	UTSW	2	147036662	critical splice acceptor site	probably null
R7173:Xrn2	UTSW	2	147042093	missense	probably damaging	1.00
R7408:Xrn2	UTSW	2	147042097	critical splice donor site	probably null
R7412:Xrn2	UTSW	2	147049346	missense	probably damaging	0.99
R7501:Xrn2	UTSW	2	147029756	missense	probably damaging	1.00
R7856:Xrn2	UTSW	2	147068473	splice site	probably null
R8912:Xrn2	UTSW	2	147049993	missense	probably benign	0.04
R8969:Xrn2	UTSW	2	147029384	missense	probably damaging	1.00
R9083:Xrn2	UTSW	2	147038279	missense	probably damaging	1.00
R9179:Xrn2	UTSW	2	147013161	missense	probably benign	0.04
Z1177:Xrn2	UTSW	2	147028206	missense	possibly damaging	0.83

Posted On

2012-12-17