Incidental Mutation 'IGL01591:Smg8'
ID91587
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: 0.399) question?
Stock #IGL01591
Quality Score
Status
Chromosome11
Chromosomal Location87077732-87086774 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87085153 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 77 (V77A)
Ref Sequence ENSEMBL: ENSMUSP00000119011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020801] [ENSMUST00000051395] [ENSMUST00000143280]
Predicted Effect probably damaging
Transcript: ENSMUST00000020801
AA Change: V534A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: V534A

DomainStartEndE-ValueType
low complexity region 19 36 N/A INTRINSIC
Pfam:DUF2146 41 985 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000051395
SMART Domains Protein: ENSMUSP00000060803
Gene: ENSMUSG00000020493

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
low complexity region 28 42 N/A INTRINSIC
low complexity region 135 152 N/A INTRINSIC
low complexity region 184 212 N/A INTRINSIC
low complexity region 350 363 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000143280
AA Change: V77A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119011
Gene: ENSMUSG00000020495
AA Change: V77A

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca G T 11: 84,243,320 G420W probably damaging Het
Adamts17 G A 7: 67,004,396 R458H probably damaging Het
Adprhl2 T C 4: 126,318,481 T82A probably damaging Het
Ccdc158 T A 5: 92,662,041 I203L probably benign Het
Commd10 C A 18: 46,963,668 S47R probably benign Het
Crb1 T C 1: 139,237,339 T1016A probably damaging Het
Crhbp T A 13: 95,443,787 I95F probably damaging Het
Cyp3a11 A T 5: 145,875,481 probably benign Het
Dsel A G 1: 111,859,695 Y1037H probably benign Het
Epha1 T C 6: 42,360,551 D898G probably damaging Het
Esr2 T A 12: 76,121,724 probably benign Het
Exosc10 T A 4: 148,562,887 probably benign Het
Fat4 A T 3: 39,010,375 R4827* probably null Het
Gm11596 A T 11: 99,792,798 C165* probably null Het
Heatr5b A G 17: 78,808,472 S852P probably benign Het
Mcm3ap C T 10: 76,470,805 P251S probably benign Het
Nmur2 A G 11: 56,026,999 V388A probably benign Het
Parp14 T C 16: 35,858,507 T364A possibly damaging Het
Rarb T A 14: 16,434,207 I370F possibly damaging Het
Rnf32 T A 5: 29,224,274 I283N probably damaging Het
Tnn T C 1: 160,125,574 E632G probably damaging Het
Trip11 A T 12: 101,883,345 S1487T probably damaging Het
Vmn2r58 T C 7: 41,865,329 K72R probably benign Het
Vmn2r92 A G 17: 18,185,161 I856V unknown Het
Other mutations in Smg8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Smg8 APN 11 87078041 missense probably damaging 0.96
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
R7030:Smg8 UTSW 11 87085093 missense probably damaging 1.00
R7317:Smg8 UTSW 11 87085565 missense possibly damaging 0.76
X0028:Smg8 UTSW 11 87086122 missense probably damaging 1.00
Posted On2013-12-09