Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00158:Xrn2'

1832

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xrn2

Ensembl Gene

ENSMUSG00000027433

Gene Name

5'-3' exoribonuclease 2

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

IGL00158

Quality Score

Status

Chromosome

Chromosomal Location

147012996-147078000 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 147036750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 455 (S455R)

Ref Sequence

ENSEMBL: ENSMUSP00000028921 (fasta)

Gene Model

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

AlphaFold

Q9DBR1

Predicted Effect

probably benign
Transcript: ENSMUST00000028921
AA Change: S455R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: S455R

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: ENSMUST00000147057

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	T	C	11: 76,003,366	S190P	probably benign	Het
Abhd3	T	A	18: 10,647,869	D300V	possibly damaging	Het
Agap1	A	G	1: 89,663,796		probably benign	Het
Best3	A	G	10: 117,004,541		probably benign	Het
Cfap43	T	G	19: 47,830,475	I125L	probably benign	Het
Cntn1	A	G	15: 92,250,877	E335G	possibly damaging	Het
Csmd3	A	T	15: 48,287,495	S396T	possibly damaging	Het
Cxxc5	T	G	18: 35,860,692	*318G	probably null	Het
Dpep3	T	C	8: 105,979,147	T49A	probably benign	Het
Elf1	T	A	14: 79,580,349	M436K	possibly damaging	Het
Ephx2	T	G	14: 66,092,837	I310L	probably benign	Het
Fancm	A	G	12: 65,075,736	T11A	possibly damaging	Het
Ganab	G	T	19: 8,902,595	A73S	probably benign	Het
Glp1r	T	G	17: 30,901,917	L14R	possibly damaging	Het
Kif14	G	A	1: 136,469,018	S354N	probably benign	Het
Krtap9-1	C	T	11: 99,873,854	P139S	unknown	Het
L2hgdh	T	C	12: 69,701,434	D306G	possibly damaging	Het
Lrriq4	A	G	3: 30,650,955		probably null	Het
Mbd3	T	G	10: 80,393,883		probably benign	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mug1	T	C	6: 121,865,809	S585P	probably damaging	Het
Nat8f4	C	A	6: 85,900,987	A185S	probably benign	Het
Nlrc5	C	T	8: 94,502,211		probably benign	Het
Olfr874	T	A	9: 37,746,389	I85N	possibly damaging	Het
Olfr937	T	A	9: 39,059,863	M268L	probably benign	Het
Peg3	T	A	7: 6,710,274	I650F	probably benign	Het
Prom1	A	T	5: 44,055,937	N142K	probably damaging	Het
Qser1	T	A	2: 104,766,056	D1537V	probably damaging	Het
Rbm44	T	A	1: 91,157,109	D684E	probably benign	Het
Rnf19a	A	C	15: 36,265,802	S50A	probably damaging	Het
Rnf31	A	G	14: 55,592,319		probably null	Het
Rspry1	A	G	8: 94,622,986	M1V	probably null	Het
Rspry1	A	T	8: 94,622,980		probably benign	Het
Sap130	C	A	18: 31,698,766	P769T	probably benign	Het
Slc22a16	T	A	10: 40,595,282	M483K	probably damaging	Het
Slc27a1	T	C	8: 71,584,772		probably null	Het
Slc35a5	A	T	16: 45,152,608	C65*	probably null	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Ubqlnl	T	C	7: 104,149,165	E375G	probably benign	Het
Uggt2	G	A	14: 119,049,276	T692I	possibly damaging	Het
Vmn1r211	A	T	13: 22,852,102	C132S	probably benign	Het
Vmn2r61	A	T	7: 42,300,751	N865I	possibly damaging	Het
Vmn2r73	A	T	7: 85,857,587	M839K		Het
Zan	T	A	5: 137,454,257	T1521S	unknown	Het
Zfp326	A	G	5: 105,907,045	M361V	possibly damaging	Het
Zfp472	A	G	17: 32,977,524	Y191C	possibly damaging	Het

Other mutations in Xrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0052:Xrn2	UTSW	2	147040965	splice site	probably benign
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

2011-07-12