Incidental Mutation 'IGL01448:Exosc8'
ID84508
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exosc8
Ensembl Gene ENSMUSG00000027752
Gene Nameexosome component 8
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01448
Quality Score
Status
Chromosome3
Chromosomal Location54728678-54735393 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54729265 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 215 (E215G)
Ref Sequence ENSEMBL: ENSMUSP00000029316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029315] [ENSMUST00000029316] [ENSMUST00000153224] [ENSMUST00000154787] [ENSMUST00000197502] [ENSMUST00000199674] [ENSMUST00000200439] [ENSMUST00000200441]
Predicted Effect probably benign
Transcript: ENSMUST00000029315
SMART Domains Protein: ENSMUSP00000029315
Gene: ENSMUSG00000027751

DomainStartEndE-ValueType
low complexity region 65 78 N/A INTRINSIC
low complexity region 107 159 N/A INTRINSIC
coiled coil region 201 230 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000029316
AA Change: E215G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029316
Gene: ENSMUSG00000027752
AA Change: E215G

DomainStartEndE-ValueType
Pfam:RNase_PH 31 166 2.3e-29 PFAM
Pfam:RNase_PH_C 191 258 8.9e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150923
Predicted Effect probably benign
Transcript: ENSMUST00000153224
SMART Domains Protein: ENSMUSP00000118780
Gene: ENSMUSG00000027752

DomainStartEndE-ValueType
Pfam:RNase_PH 31 130 2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154787
SMART Domains Protein: ENSMUSP00000115876
Gene: ENSMUSG00000027752

DomainStartEndE-ValueType
Pfam:RNase_PH 19 106 5.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197502
SMART Domains Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751

DomainStartEndE-ValueType
low complexity region 45 56 N/A INTRINSIC
Pfam:Spt20 62 227 1.9e-43 PFAM
low complexity region 424 440 N/A INTRINSIC
low complexity region 467 476 N/A INTRINSIC
low complexity region 487 501 N/A INTRINSIC
low complexity region 512 532 N/A INTRINSIC
low complexity region 574 587 N/A INTRINSIC
low complexity region 632 680 N/A INTRINSIC
coiled coil region 722 751 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198780
Predicted Effect probably benign
Transcript: ENSMUST00000199674
SMART Domains Protein: ENSMUSP00000142948
Gene: ENSMUSG00000027751

DomainStartEndE-ValueType
low complexity region 45 56 N/A INTRINSIC
Pfam:Spt20 59 227 3.3e-39 PFAM
low complexity region 424 442 N/A INTRINSIC
low complexity region 466 475 N/A INTRINSIC
low complexity region 486 500 N/A INTRINSIC
low complexity region 513 524 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200439
SMART Domains Protein: ENSMUSP00000143059
Gene: ENSMUSG00000027751

DomainStartEndE-ValueType
low complexity region 45 56 N/A INTRINSIC
Pfam:Spt20 59 227 2.7e-42 PFAM
low complexity region 424 440 N/A INTRINSIC
low complexity region 467 476 N/A INTRINSIC
low complexity region 487 501 N/A INTRINSIC
low complexity region 514 525 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200441
SMART Domains Protein: ENSMUSP00000143231
Gene: ENSMUSG00000027751

DomainStartEndE-ValueType
low complexity region 65 78 N/A INTRINSIC
low complexity region 123 171 N/A INTRINSIC
coiled coil region 213 242 N/A INTRINSIC
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 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,405,847 E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,633 probably benign Het
2610303G11Rik T A 9: 98,186,709 noncoding transcript Het
4931414P19Rik T C 14: 54,585,960 D320G possibly damaging Het
Adamts6 G A 13: 104,297,164 E34K probably damaging Het
Alms1 T A 6: 85,677,899 N3142K possibly damaging Het
Anapc7 G A 5: 122,428,213 A62T probably damaging Het
Atp8b3 G A 10: 80,520,422 P1152L probably benign Het
Cc2d2a C T 5: 43,684,185 T181I possibly damaging Het
Celsr2 A G 3: 108,393,239 L2835P probably damaging Het
Ctns A T 11: 73,188,722 V99D possibly damaging Het
Dchs1 T C 7: 105,771,927 R429G probably damaging Het
Ddx11 T C 17: 66,134,137 V218A probably damaging Het
Eftud2 G A 11: 102,865,563 probably benign Het
Erich1 G T 8: 14,078,853 T29N possibly damaging Het
Fam184a G T 10: 53,698,949 A188E probably benign Het
Fign A G 2: 63,979,688 S413P probably damaging Het
Fkbp6 A G 5: 135,349,696 S33P probably damaging Het
Glb1 A G 9: 114,450,677 probably benign Het
H2-Q1 T C 17: 35,323,461 probably benign Het
Helz2 T C 2: 181,233,977 T1575A probably damaging Het
Il18r1 A G 1: 40,474,730 E32G probably damaging Het
Ints5 C T 19: 8,895,487 P270L possibly damaging Het
Itga7 G T 10: 128,949,468 E847* probably null Het
Kcns3 A C 12: 11,091,643 S352A possibly damaging Het
Kiz A G 2: 146,863,801 K94E probably benign Het
Lin7b C T 7: 45,369,200 V12M probably damaging Het
Myo18b A T 5: 112,811,704 I1409N probably damaging Het
Myo5b A G 18: 74,644,090 H407R probably damaging Het
Nelfa T C 5: 33,898,802 T506A probably damaging Het
Olfr497 T A 7: 108,423,028 Y152* probably null Het
Olfr763 A G 10: 129,011,860 T192A probably damaging Het
Olfr816 A G 10: 129,912,245 I11T possibly damaging Het
Olfr984 A T 9: 40,101,082 M136K probably damaging Het
Pclo A C 5: 14,676,394 probably benign Het
Pes1 G A 11: 3,977,979 E544K possibly damaging Het
Rabgap1l A G 1: 160,740,745 probably benign Het
Rapgef2 C T 3: 79,103,962 probably null Het
Rapgef2 T C 3: 79,068,937 M1521V probably benign Het
Reln A G 5: 22,040,405 V735A probably benign Het
Slc2a4 A G 11: 69,945,076 S316P possibly damaging Het
Smarce1 C T 11: 99,210,187 G373E possibly damaging Het
Spata31d1a T A 13: 59,701,559 R918S probably benign Het
St3gal4 T C 9: 35,052,331 K227R probably benign Het
Stra6l T A 4: 45,864,864 probably null Het
Stxbp5l T C 16: 37,215,979 I425V probably damaging Het
Tcaf2 T C 6: 42,630,328 T231A probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tnks A G 8: 34,839,982 Y1138H probably damaging Het
Vezt T A 10: 93,996,857 I231F probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zbed3 A G 13: 95,336,634 K189E possibly damaging Het
Zfp512b T C 2: 181,587,785 T625A possibly damaging Het
Zfp827 A T 8: 79,060,733 Q176L possibly damaging Het
Other mutations in Exosc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03348:Exosc8 APN 3 54732722 missense possibly damaging 0.91
R1037:Exosc8 UTSW 3 54732738 missense probably damaging 0.98
R1233:Exosc8 UTSW 3 54731998 missense probably benign 0.30
R1623:Exosc8 UTSW 3 54734331 missense probably damaging 0.99
R1647:Exosc8 UTSW 3 54734101 critical splice donor site probably null
R1928:Exosc8 UTSW 3 54728845 missense probably damaging 1.00
R3005:Exosc8 UTSW 3 54732147 synonymous probably null
R4851:Exosc8 UTSW 3 54732102 unclassified probably benign
R4932:Exosc8 UTSW 3 54729290 missense possibly damaging 0.81
R5010:Exosc8 UTSW 3 54729223 missense probably benign 0.00
R5506:Exosc8 UTSW 3 54731179 unclassified probably benign
R5860:Exosc8 UTSW 3 54735042 unclassified probably benign
R6887:Exosc8 UTSW 3 54733699 missense probably damaging 1.00
R7543:Exosc8 UTSW 3 54729248 missense probably benign 0.28
Posted On2013-11-11