Incidental Mutation 'IGL00765:Smg8'
ID14158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smg8
Ensembl Gene ENSMUSG00000020495
Gene Namesmg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)
Synonyms1200011M11Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.437) question?
Stock #IGL00765
Quality Score
Status
Chromosome11
Chromosomal Location87077732-87086774 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87078041 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 963 (E963G)
Ref Sequence ENSEMBL: ENSMUSP00000020801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020801] [ENSMUST00000020804] [ENSMUST00000143280]
Predicted Effect probably damaging
Transcript: ENSMUST00000020801
AA Change: E963G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: E963G

DomainStartEndE-ValueType
low complexity region 19 36 N/A INTRINSIC
Pfam:DUF2146 41 985 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020804
SMART Domains Protein: ENSMUSP00000020804
Gene: ENSMUSG00000061666

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:GDPD 45 204 1.2e-26 PFAM
low complexity region 206 217 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134275
Predicted Effect probably benign
Transcript: ENSMUST00000143280
SMART Domains Protein: ENSMUSP00000119011
Gene: ENSMUSG00000020495

DomainStartEndE-ValueType
Pfam:DUF2146 1 269 2.9e-89 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 C T 16: 14,411,508 T368I probably damaging Het
Bub1 T A 2: 127,829,472 N64I probably damaging Het
Ccdc97 A G 7: 25,714,852 L159P probably damaging Het
Chrnd T C 1: 87,195,709 V214A probably damaging Het
Csf2rb2 A G 15: 78,292,716 S185P probably benign Het
Dmxl2 A G 9: 54,415,422 probably benign Het
Eif3e A T 15: 43,278,349 M55K probably benign Het
Ercc6l2 T C 13: 63,848,772 V365A possibly damaging Het
Fndc1 A G 17: 7,772,693 S724P unknown Het
Htt T C 5: 34,877,425 probably benign Het
Ints4 C T 7: 97,535,205 T839I probably damaging Het
Lrp6 T G 6: 134,541,854 T83P probably benign Het
Lrrc8d C T 5: 105,811,952 T76I possibly damaging Het
Nae1 T C 8: 104,517,950 probably benign Het
Nlrp14 T C 7: 107,190,139 V45A possibly damaging Het
Nrp2 C A 1: 62,704,251 S16* probably null Het
Nup155 T C 15: 8,153,228 I1225T probably benign Het
Pnpla7 G T 2: 24,980,224 A43S probably damaging Het
Prcp T C 7: 92,933,099 S431P probably benign Het
Rbck1 A G 2: 152,330,954 probably benign Het
Tanc1 A C 2: 59,806,301 M836L probably benign Het
Tnpo1 A G 13: 98,850,104 probably benign Het
Other mutations in Smg8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01591:Smg8 APN 11 87085153 missense probably damaging 1.00
IGL01844:Smg8 APN 11 87080276 missense probably damaging 1.00
IGL02634:Smg8 APN 11 87086672 missense probably benign
IGL03170:Smg8 APN 11 87086608 missense probably damaging 1.00
IGL03206:Smg8 APN 11 87085988 unclassified probably null
R0218:Smg8 UTSW 11 87086122 missense probably damaging 1.00
R0378:Smg8 UTSW 11 87080423 missense probably damaging 1.00
R0497:Smg8 UTSW 11 87086084 missense possibly damaging 0.95
R0522:Smg8 UTSW 11 87086462 missense probably benign
R0546:Smg8 UTSW 11 87083613 missense possibly damaging 0.69
R0634:Smg8 UTSW 11 87086108 missense possibly damaging 0.86
R1245:Smg8 UTSW 11 87083610 missense possibly damaging 0.91
R1710:Smg8 UTSW 11 87086287 missense probably damaging 0.98
R1726:Smg8 UTSW 11 87080613 nonsense probably null
R1747:Smg8 UTSW 11 87085303 missense possibly damaging 0.93
R1748:Smg8 UTSW 11 87085768 missense probably damaging 1.00
R1909:Smg8 UTSW 11 87080613 nonsense probably null
R1981:Smg8 UTSW 11 87085331 missense probably benign 0.00
R2356:Smg8 UTSW 11 87085728 missense probably benign 0.00
R4459:Smg8 UTSW 11 87085570 missense probably benign 0.09
R4724:Smg8 UTSW 11 87086221 missense probably benign 0.39
R4914:Smg8 UTSW 11 87080710 missense probably damaging 1.00
R5023:Smg8 UTSW 11 87086137 missense probably damaging 1.00
R5284:Smg8 UTSW 11 87080311 missense possibly damaging 0.94
R5368:Smg8 UTSW 11 87080260 missense probably benign 0.21
R5534:Smg8 UTSW 11 87085470 missense probably benign 0.06
R5689:Smg8 UTSW 11 87085123 missense probably damaging 0.98
R6651:Smg8 UTSW 11 87086546 missense probably benign 0.30
R6896:Smg8 UTSW 11 87077961 missense possibly damaging 0.46
X0028:Smg8 UTSW 11 87086122 missense probably damaging 1.00
Posted On2012-12-06