Incidental Mutation 'IGL03206:Smg8'
ID 413157
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 # IGL03206
Quality Score
Status
Chromosome 11
Chromosomal Location 86968558-86977600 bp(-) (GRCm39)
Type of Mutation splice site (3165 bp from exon)
DNA Base Change (assembly) A to C at 86976814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000060803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020801] [ENSMUST00000051395] [ENSMUST00000143280]
AlphaFold Q8VE18
Predicted Effect probably benign
Transcript: ENSMUST00000020801
AA Change: L256V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: L256V

DomainStartEndE-ValueType
low complexity region 19 36 N/A INTRINSIC
Pfam:DUF2146 41 985 N/A PFAM
Predicted Effect probably null
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
A2ml1 T A 6: 128,530,239 (GRCm39) E939D possibly damaging Het
Aloxe3 C A 11: 69,020,472 (GRCm39) A172D possibly damaging Het
Bscl2 G A 19: 8,820,453 (GRCm39) R158Q probably damaging Het
Cdon A G 9: 35,414,602 (GRCm39) D1159G probably benign Het
Cep164 A G 9: 45,714,023 (GRCm39) V203A probably benign Het
Chml T C 1: 175,515,303 (GRCm39) D206G probably benign Het
E2f6 T C 12: 16,872,090 (GRCm39) probably benign Het
Emilin3 T A 2: 160,752,719 (GRCm39) Y77F probably damaging Het
Fbxw15 A T 9: 109,394,430 (GRCm39) N128K possibly damaging Het
Gjd2 A G 2: 113,842,204 (GRCm39) L91P probably damaging Het
Gm12830 T A 4: 114,702,314 (GRCm39) probably benign Het
Gpr161 T A 1: 165,149,218 (GRCm39) L529Q probably damaging Het
Hoxd10 T A 2: 74,522,776 (GRCm39) Y151* probably null Het
Iars1 A G 13: 49,846,546 (GRCm39) D215G possibly damaging Het
Ift140 T C 17: 25,311,800 (GRCm39) V1241A probably damaging Het
Kdm5b A G 1: 134,555,055 (GRCm39) N1321S probably benign Het
Lrat T A 3: 82,810,656 (GRCm39) I122F probably damaging Het
Myl10 C T 5: 136,726,796 (GRCm39) Q106* probably null Het
Ncapd2 A T 6: 125,148,660 (GRCm39) Y1018N possibly damaging Het
Ndrg1 C T 15: 66,814,936 (GRCm39) W172* probably null Het
Nphs2 T C 1: 156,153,701 (GRCm39) M264T probably damaging Het
Nrxn3 A T 12: 89,227,278 (GRCm39) R677S possibly damaging Het
Nudt12 T C 17: 59,314,667 (GRCm39) T306A probably benign Het
Numb A G 12: 83,872,070 (GRCm39) probably benign Het
Or10h28 T A 17: 33,487,725 (GRCm39) I9K possibly damaging Het
Or2y1 A T 11: 49,385,536 (GRCm39) M59L probably benign Het
Or5p58 C T 7: 107,694,261 (GRCm39) C172Y probably damaging Het
Pbld2 T A 10: 62,883,261 (GRCm39) D94E probably benign Het
Pkd1l3 C A 8: 110,350,345 (GRCm39) Q397K probably benign Het
Ppp4r3a A T 12: 101,024,878 (GRCm39) L207H probably damaging Het
Ranbp2 T A 10: 58,301,369 (GRCm39) I674N probably damaging Het
Retnlg G T 16: 48,694,655 (GRCm39) C101F probably damaging Het
Rif1 T A 2: 51,993,634 (GRCm39) I849N probably damaging Het
Serpinb9d T C 13: 33,382,014 (GRCm39) I161T possibly damaging Het
Slc17a6 T C 7: 51,315,771 (GRCm39) probably benign Het
Spata31d1c C A 13: 65,183,407 (GRCm39) N316K probably benign Het
Tlr1 A G 5: 65,082,400 (GRCm39) S726P probably damaging Het
Trim69 A C 2: 122,003,636 (GRCm39) D195A probably benign Het
Ttc16 T G 2: 32,661,897 (GRCm39) probably null Het
Usp53 T A 3: 122,746,832 (GRCm39) M405L probably benign Het
Ywhag G A 5: 135,939,914 (GRCm39) R227* probably null Het
Zfp335 G T 2: 164,734,601 (GRCm39) probably benign Het
Zfp607a T C 7: 27,577,248 (GRCm39) I106T possibly damaging Het
Zfp959 T C 17: 56,204,613 (GRCm39) S214P possibly damaging Het
Zfyve9 T C 4: 108,546,406 (GRCm39) M868V possibly 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
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 2016-08-02