Incidental Mutation 'R6651:Smg8'
ID 527801
Institutional Source Beutler Lab
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)
MMRRC Submission 044772-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.429) question?
Stock # R6651 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 86968558-86977600 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86977372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 70 (T70A)
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: T70A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: T70A

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
Meta Mutation Damage Score 0.0622 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A C 7: 43,147,496 (GRCm39) S198A possibly damaging Het
Adamts15 A T 9: 30,833,448 (GRCm39) I29N probably damaging Het
Ankrd61 A T 5: 143,830,438 (GRCm39) I33N probably damaging Het
Arl6ip1 C T 7: 117,728,708 (GRCm39) R7H probably benign Het
Atp8a2 A T 14: 60,011,470 (GRCm39) D946E probably benign Het
Cc2d2b A T 19: 40,766,573 (GRCm39) Q114L probably damaging Het
Ccdc163 T A 4: 116,566,261 (GRCm39) S16R possibly damaging Het
Chil6 C T 3: 106,311,576 (GRCm39) C68Y probably damaging Het
Cngb3 G T 4: 19,375,231 (GRCm39) R287L probably benign Het
Crem C T 18: 3,325,428 (GRCm39) R16H probably benign Het
Cyp4f16 C T 17: 32,763,118 (GRCm39) R188C probably benign Het
Dap A G 15: 31,273,353 (GRCm39) D46G probably damaging Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Enam T C 5: 88,650,776 (GRCm39) Y687H probably damaging Het
Fzd4 A T 7: 89,054,010 (GRCm39) D39V possibly damaging Het
Ggta1 G T 2: 35,292,306 (GRCm39) H334N probably benign Het
Golga3 C T 5: 110,365,996 (GRCm39) R1254* probably null Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Helz2 C T 2: 180,881,350 (GRCm39) W377* probably null Het
Hfm1 T C 5: 106,995,553 (GRCm39) D1286G probably benign Het
Hhatl T C 9: 121,613,768 (GRCm39) R425G probably damaging Het
Hivep3 G A 4: 119,980,146 (GRCm39) R1728H probably damaging Het
Hyal1 A G 9: 107,456,570 (GRCm39) Y419C probably damaging Het
Ighv8-12 A T 12: 115,611,644 (GRCm39) D84E possibly damaging Het
Itln1 A G 1: 171,345,940 (GRCm39) F271L possibly damaging Het
Klra7 C A 6: 130,206,908 (GRCm39) L64F probably benign Het
Kmt2a A T 9: 44,740,108 (GRCm39) C1878* probably null Het
Mia2 C A 12: 59,201,148 (GRCm39) Q825K possibly damaging Het
Mmp12 C A 9: 7,355,345 (GRCm39) P294Q possibly damaging Het
Nedd4 A G 9: 72,638,553 (GRCm39) N480S possibly damaging Het
Or4c12b A T 2: 89,647,240 (GRCm39) E190V probably benign Het
Or4e5 C T 14: 52,728,250 (GRCm39) R57Q probably benign Het
Pax6 T A 2: 105,516,175 (GRCm39) M151K probably benign Het
Pgm2 A G 5: 64,269,437 (GRCm39) Y508C probably benign Het
Ptpn20 T C 14: 33,354,897 (GRCm39) F324S probably damaging Het
Recql A G 6: 142,310,160 (GRCm39) probably null Het
Rerg A G 6: 137,033,384 (GRCm39) V97A probably damaging Het
Rffl C A 11: 82,703,605 (GRCm39) C106F probably damaging Het
Scaper T G 9: 55,765,788 (GRCm39) N499T probably benign Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Slc36a4 A G 9: 15,634,874 (GRCm39) S139G probably benign Het
Slco2b1 T A 7: 99,316,376 (GRCm39) M385L probably benign Het
Spats2l A T 1: 57,985,336 (GRCm39) K463M probably damaging Het
Thbs4 T C 13: 92,893,044 (GRCm39) I715V probably benign Het
Tmem234 T A 4: 129,501,264 (GRCm39) M113K possibly damaging Het
Vmn2r10 T C 5: 109,143,488 (GRCm39) I821V probably null Het
Vmn2r116 A T 17: 23,607,805 (GRCm39) K458* probably null Het
Vmn2r76 T A 7: 85,878,059 (GRCm39) N446I possibly damaging Het
Vmn2r95 T A 17: 18,660,622 (GRCm39) Y345N probably damaging 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
IGL02634:Smg8 APN 11 86,977,498 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CTGCAAAAGACTGAAGTCCTGGG -3'
(R):5'- AAGCTCTTTCTCCGCCATGG -3'

Sequencing Primer
(F):5'- ACCTGGCTCAGCTCGGTTAC -3'
(R):5'- CGAGCTGCTCATGGGGG -3'
Posted On 2018-07-23