Incidental Mutation 'IGL02609:Xrn2'
ID 300403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xrn2
Ensembl Gene ENSMUSG00000027433
Gene Name 5'-3' exoribonuclease 2
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL02609
Quality Score
Status
Chromosome 2
Chromosomal Location 147012996-147078000 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 147050025 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 721 (T721S)
Ref Sequence ENSEMBL: ENSMUSP00000028921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028921]
AlphaFold Q9DBR1
Predicted Effect probably benign
Transcript: ENSMUST00000028921
AA Change: T721S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: T721S

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: ENSMUST00000136136
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik A T 11: 58,612,616 C29S probably damaging Het
A930011G23Rik A G 5: 99,233,995 probably benign Het
Adcy10 T G 1: 165,538,475 Y520* probably null Het
Agrn A T 4: 156,175,223 probably benign Het
AI661453 A T 17: 47,468,372 probably benign Het
Arhgap6 A G X: 169,178,066 probably benign Het
Asxl2 T C 12: 3,500,018 S587P probably damaging Het
B3gntl1 A G 11: 121,644,601 probably benign Het
Bahcc1 T C 11: 120,289,398 F2527L possibly damaging Het
Baz2b T A 2: 59,917,369 M1317L possibly damaging Het
Bcas3 A T 11: 85,457,894 K204I probably damaging Het
C1qtnf1 T C 11: 118,448,004 F167L probably damaging Het
Cfap58 C T 19: 47,975,502 T523M possibly damaging Het
Ddb1 T A 19: 10,622,466 C680S possibly damaging Het
Eef1d T C 15: 75,896,313 Q200R probably null Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm28557 T A 13: 67,071,019 K214* probably null Het
Gm438 T A 4: 144,779,737 D128V probably damaging Het
Gm8229 A C 14: 44,366,625 E90D probably benign Het
Hhla1 T C 15: 65,930,614 probably benign Het
Hivep1 C T 13: 42,155,654 H457Y probably damaging Het
Htr2c T C X: 147,193,760 probably benign Het
Ifi44 A T 3: 151,732,497 S384R probably damaging Het
Impad1 T A 4: 4,767,763 R338* probably null Het
Kirrel2 T C 7: 30,448,340 T628A probably benign Het
Kmt2d T C 15: 98,851,793 probably benign Het
Larp4b T A 13: 9,170,680 I655N probably damaging Het
Lrrd1 G A 5: 3,858,803 V692I probably benign Het
Mum1 A T 10: 80,230,083 E57V probably damaging Het
Nes T C 3: 87,977,221 I929T probably benign Het
Ogfr T C 2: 180,592,515 probably benign Het
Rfx2 G T 17: 56,805,404 P43Q probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sh3tc1 T C 5: 35,707,172 K495R probably damaging Het
Slit1 A T 19: 41,602,304 C1310S probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stk35 T C 2: 129,801,801 V235A probably damaging Het
Syde2 T G 3: 145,998,520 V142G probably benign Het
Tgfb3 A G 12: 86,077,839 F32L probably benign Het
Tmem35a T C X: 134,304,697 F121L probably damaging Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Vmn1r26 A G 6: 58,008,875 S110P probably damaging Het
Vpreb2 T C 16: 17,980,694 probably benign 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
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 2015-04-16