Incidental Mutation 'IGL02941:Xrn2'
ID364498
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 #IGL02941
Quality Score
Status
Chromosome2
Chromosomal Location147012996-147078000 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 147026524 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 166 (F166I)
Ref Sequence ENSEMBL: ENSMUSP00000028921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028921]
Predicted Effect probably damaging
Transcript: ENSMUST00000028921
AA Change: F166I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: F166I

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik G A 7: 50,599,536 R106Q probably damaging Het
Amhr2 T C 15: 102,447,289 V223A probably damaging Het
Aqr T A 2: 114,113,354 H1101L probably damaging Het
Arnt T A 3: 95,460,370 probably benign Het
Cacnb2 G A 2: 14,958,829 V85I probably benign Het
Cast A T 13: 74,700,687 D727E probably damaging Het
Ccdc134 C T 15: 82,140,950 R217W probably damaging Het
Col5a3 A G 9: 20,804,666 S360P unknown Het
Cyp4f16 T C 17: 32,537,087 I30T possibly damaging Het
Dopey2 T C 16: 93,755,473 F267L probably benign Het
Fbxo3 A G 2: 104,050,294 T250A probably damaging Het
Gm4953 C T 1: 159,168,393 noncoding transcript Het
Gm9242 T C 16: 97,491,079 probably benign Het
Gsr G A 8: 33,689,425 V354I probably damaging Het
Hecw1 T A 13: 14,377,726 D96V probably damaging Het
Hist2h2be A G 3: 96,221,416 Y84C possibly damaging Het
Il18r1 A G 1: 40,498,551 Y492C probably damaging Het
Itgb5 T G 16: 33,944,095 probably benign Het
Lars2 T G 9: 123,459,585 L832R probably damaging Het
Ms4a6c A G 19: 11,471,102 probably benign Het
Nrxn1 T C 17: 90,208,383 S1227G probably damaging Het
Olfr15 T C 16: 3,839,816 V281A possibly damaging Het
Olfr339 T C 2: 36,422,120 C241R probably damaging Het
Olfr584 A G 7: 103,086,321 T263A probably benign Het
Pcdh17 A G 14: 84,448,307 Y738C probably damaging Het
Pcsk5 C A 19: 17,447,501 C1646F probably damaging Het
Pirb A G 7: 3,717,378 V332A probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polrmt A T 10: 79,737,258 probably benign Het
Saxo1 G T 4: 86,445,584 R221S probably damaging Het
Specc1l A G 10: 75,241,188 I93V probably benign Het
St8sia2 T A 7: 73,976,649 probably benign Het
Tep1 A T 14: 50,866,037 N265K probably damaging Het
Thbd A T 2: 148,407,034 Y305N probably damaging Het
Tmem120a T C 5: 135,735,751 T325A probably damaging Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Vill G A 9: 119,066,887 probably benign Het
Wdr35 A G 12: 9,027,507 D1060G probably damaging Het
Zc3h7a T G 16: 11,158,594 probably null Het
Zdhhc13 G A 7: 48,817,138 probably benign Het
Zfp808 T A 13: 62,173,130 N724K possibly damaging Het
Other mutations in Xrn2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 On2015-12-18