Incidental Mutation 'IGL02634:Smg8'
ID 301446
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smg8
Ensembl Gene ENSMUSG00000020495
Gene Name SMG8 nonsense mediated mRNA decay factor
Synonyms 1200011M11Rik, smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.429) question?
Stock # IGL02634
Quality Score
Status
Chromosome 11
Chromosomal Location 86968558-86977600 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86977498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 28 (A28T)
Ref Sequence ENSEMBL: ENSMUSP00000020801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020801] [ENSMUST00000051395] [ENSMUST00000143280]
AlphaFold Q8VE18
Predicted Effect probably benign
Transcript: ENSMUST00000020801
AA Change: A28T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: A28T

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 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 T A 11: 50,683,548 (GRCm39) C943* probably null Het
Arhgef28 A T 13: 98,187,566 (GRCm39) V243D probably benign Het
Arrdc3 T A 13: 81,038,884 (GRCm39) I62K probably damaging Het
Atm T C 9: 53,427,863 (GRCm39) T416A probably benign Het
AW209491 A G 13: 14,812,268 (GRCm39) T374A probably damaging Het
Brcc3 T C X: 74,479,704 (GRCm39) probably benign Het
Ccdc181 T G 1: 164,107,514 (GRCm39) S66A probably benign Het
Ccdc62 T C 5: 124,092,320 (GRCm39) I435T probably benign Het
Cdc14b C A 13: 64,364,117 (GRCm39) probably benign Het
Chst5 A G 8: 112,617,477 (GRCm39) S48P probably damaging Het
Ciita C A 16: 10,326,577 (GRCm39) S253Y probably damaging Het
Dock7 C T 4: 98,877,533 (GRCm39) R1005H probably damaging Het
Dsg4 A T 18: 20,591,637 (GRCm39) I459F probably benign Het
Enpep T C 3: 129,103,506 (GRCm39) E361G probably damaging Het
Fblim1 T C 4: 141,310,422 (GRCm39) D280G probably benign Het
Fignl1 G A 11: 11,752,756 (GRCm39) R100* probably null Het
Ggcx G T 6: 72,395,286 (GRCm39) A126S probably damaging Het
Hdgfl1 A G 13: 26,953,786 (GRCm39) S96P probably benign Het
Iqgap2 G A 13: 95,764,622 (GRCm39) L1541F probably damaging Het
Itga8 T C 2: 12,145,289 (GRCm39) E888G possibly damaging Het
Kank4 T A 4: 98,667,064 (GRCm39) Q461L probably benign Het
Klhl20 C T 1: 160,925,935 (GRCm39) V438M probably damaging Het
Klrc3 A T 6: 129,620,171 (GRCm39) S27R probably damaging Het
Ksr2 T C 5: 117,901,394 (GRCm39) probably benign Het
Lrrc37a C T 11: 103,389,938 (GRCm39) S1829N probably benign Het
Obscn A G 11: 58,945,611 (GRCm39) L4585P probably damaging Het
Or5p57 T C 7: 107,665,978 (GRCm39) N9S probably benign Het
Palm3 T G 8: 84,755,494 (GRCm39) S335R probably damaging Het
Pcsk7 C T 9: 45,830,560 (GRCm39) A446V possibly damaging Het
Penk A G 4: 4,134,065 (GRCm39) L194P possibly damaging Het
Pkhd1l1 T C 15: 44,403,063 (GRCm39) F2255S probably damaging Het
Plcd3 G A 11: 102,968,653 (GRCm39) S31F probably damaging Het
Pou2af2 A G 9: 51,203,055 (GRCm39) L33P possibly damaging Het
Ppp6r2 C T 15: 89,159,680 (GRCm39) Q456* probably null Het
Rbbp8nl T C 2: 179,922,688 (GRCm39) D235G probably benign Het
Ror1 T A 4: 100,283,307 (GRCm39) N457K probably benign Het
Rpgrip1l C A 8: 91,951,972 (GRCm39) probably benign Het
Sdk1 T C 5: 141,595,787 (GRCm39) F148L probably benign Het
Slc45a2 A T 15: 11,023,440 (GRCm39) H348L probably benign Het
Snx14 A G 9: 88,285,356 (GRCm39) I436T probably damaging Het
Synj2 G A 17: 6,080,035 (GRCm39) R1088H probably damaging Het
Tubb6 T C 18: 67,535,366 (GRCm39) Y422H probably damaging Het
Unc13a T A 8: 72,108,345 (GRCm39) I503F probably benign Het
Unc13d A G 11: 115,961,382 (GRCm39) probably benign Het
Zp1 T C 19: 10,896,871 (GRCm39) probably benign Het
Other mutations in Smg8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Smg8 APN 11 86,968,867 (GRCm39) missense probably damaging 0.96
IGL01591:Smg8 APN 11 86,975,979 (GRCm39) missense probably damaging 1.00
IGL01844:Smg8 APN 11 86,971,102 (GRCm39) missense probably damaging 1.00
IGL03170:Smg8 APN 11 86,977,434 (GRCm39) missense probably damaging 1.00
IGL03206:Smg8 APN 11 86,976,814 (GRCm39) splice site probably null
R0218:Smg8 UTSW 11 86,976,948 (GRCm39) missense probably damaging 1.00
R0378:Smg8 UTSW 11 86,971,249 (GRCm39) missense probably damaging 1.00
R0497:Smg8 UTSW 11 86,976,910 (GRCm39) missense possibly damaging 0.95
R0522:Smg8 UTSW 11 86,977,288 (GRCm39) missense probably benign
R0546:Smg8 UTSW 11 86,974,439 (GRCm39) missense possibly damaging 0.69
R0634:Smg8 UTSW 11 86,976,934 (GRCm39) missense possibly damaging 0.86
R1245:Smg8 UTSW 11 86,974,436 (GRCm39) missense possibly damaging 0.91
R1710:Smg8 UTSW 11 86,977,113 (GRCm39) missense probably damaging 0.98
R1726:Smg8 UTSW 11 86,971,439 (GRCm39) nonsense probably null
R1747:Smg8 UTSW 11 86,976,129 (GRCm39) missense possibly damaging 0.93
R1748:Smg8 UTSW 11 86,976,594 (GRCm39) missense probably damaging 1.00
R1909:Smg8 UTSW 11 86,971,439 (GRCm39) nonsense probably null
R1981:Smg8 UTSW 11 86,976,157 (GRCm39) missense probably benign 0.00
R2356:Smg8 UTSW 11 86,976,554 (GRCm39) missense probably benign 0.00
R4459:Smg8 UTSW 11 86,976,396 (GRCm39) missense probably benign 0.09
R4724:Smg8 UTSW 11 86,977,047 (GRCm39) missense probably benign 0.39
R4914:Smg8 UTSW 11 86,971,536 (GRCm39) missense probably damaging 1.00
R5023:Smg8 UTSW 11 86,976,963 (GRCm39) missense probably damaging 1.00
R5284:Smg8 UTSW 11 86,971,137 (GRCm39) missense possibly damaging 0.94
R5368:Smg8 UTSW 11 86,971,086 (GRCm39) missense probably benign 0.21
R5534:Smg8 UTSW 11 86,976,296 (GRCm39) missense probably benign 0.06
R5689:Smg8 UTSW 11 86,975,949 (GRCm39) missense probably damaging 0.98
R6651:Smg8 UTSW 11 86,977,372 (GRCm39) missense probably benign 0.30
R6896:Smg8 UTSW 11 86,968,787 (GRCm39) missense possibly damaging 0.46
R7030:Smg8 UTSW 11 86,975,919 (GRCm39) missense probably damaging 1.00
R7317:Smg8 UTSW 11 86,976,391 (GRCm39) missense possibly damaging 0.76
R8154:Smg8 UTSW 11 86,976,063 (GRCm39) missense possibly damaging 0.93
R8362:Smg8 UTSW 11 86,968,881 (GRCm39) nonsense probably null
R8781:Smg8 UTSW 11 86,971,147 (GRCm39) missense possibly damaging 0.52
R9295:Smg8 UTSW 11 86,968,789 (GRCm39) missense probably benign 0.00
R9360:Smg8 UTSW 11 86,968,956 (GRCm39) missense probably benign
X0028:Smg8 UTSW 11 86,976,948 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16