Incidental Mutation 'IGL00158:Xrn2'
ID1832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xrn2
Ensembl Gene ENSMUSG00000027433
Gene Name5'-3' exoribonuclease 2
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock #IGL00158
Quality Score
Status
Chromosome2
Chromosomal Location147012996-147078000 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 147036750 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 455 (S455R)
Ref Sequence ENSEMBL: ENSMUSP00000028921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028921]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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 probably benign 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
AlleleSourceChrCoordTypePredicted EffectPPH 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
Z1177:Xrn2 UTSW 2 147028206 missense possibly damaging 0.83
Posted On2011-07-12