Incidental Mutation 'R4008:Smg5'
ID 311558
Institutional Source Beutler Lab
Gene Symbol Smg5
Ensembl Gene ENSMUSG00000001415
Gene Name SMG5 nonsense mediated mRNA decay factor
Synonyms Smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)
MMRRC Submission 040946-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4008 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 88243567-88269645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88256465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 244 (S244P)
Ref Sequence ENSEMBL: ENSMUSP00000001451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001451]
AlphaFold Q6ZPY2
Predicted Effect probably benign
Transcript: ENSMUST00000001451
AA Change: S244P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415
AA Change: S244P

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
Pfam:EST1 77 189 1.1e-26 PFAM
Pfam:EST1_DNA_bind 197 427 4.6e-53 PFAM
low complexity region 447 468 N/A INTRINSIC
low complexity region 481 501 N/A INTRINSIC
Pfam:EST1_DNA_bind 611 745 3.7e-9 PFAM
coiled coil region 801 842 N/A INTRINSIC
PINc 856 979 3.23e-15 SMART
low complexity region 990 999 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193097
Meta Mutation Damage Score 0.0752 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 97% (32/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,399,548 (GRCm39) L529Q probably damaging Het
Adsl T C 15: 80,850,357 (GRCm39) S359P probably benign Het
Batf2 G A 19: 6,221,378 (GRCm39) E63K probably damaging Het
Chd1l A T 3: 97,477,718 (GRCm39) M679K probably benign Het
Clvs2 G A 10: 33,419,458 (GRCm39) H199Y probably damaging Het
F830045P16Rik A T 2: 129,305,467 (GRCm39) N302K probably damaging Het
H2-K2 G A 17: 34,218,525 (GRCm39) probably benign Het
Ifit2 G T 19: 34,551,445 (GRCm39) M328I probably benign Het
Larp7 T C 3: 127,334,519 (GRCm39) D490G probably benign Het
Map9 T C 3: 82,266,390 (GRCm39) Y12H probably damaging Het
Mn1 G T 5: 111,568,035 (GRCm39) E668D probably benign Het
Mrps18c T C 5: 100,950,982 (GRCm39) probably benign Het
Npdc1 T A 2: 25,298,992 (GRCm39) Y237* probably null Het
Oprm1 A G 10: 6,782,520 (GRCm39) M388V probably benign Het
Or10ag57 A T 2: 87,218,924 (GRCm39) I292F possibly damaging Het
Or4n5 A G 14: 50,132,464 (GRCm39) L265P probably benign Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Pkn2 T C 3: 142,516,219 (GRCm39) D568G possibly damaging Het
Pwp1 A G 10: 85,717,898 (GRCm39) T279A possibly damaging Het
Rabep2 C A 7: 126,044,546 (GRCm39) D547E probably damaging Het
Rbm34 T C 8: 127,676,037 (GRCm39) K426R probably benign Het
Rgs14 T G 13: 55,517,726 (GRCm39) L8V probably damaging Het
Ripor2 A G 13: 24,880,521 (GRCm39) H407R probably benign Het
Serpina3a A T 12: 104,084,902 (GRCm39) D99V probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc39a12 T C 2: 14,456,928 (GRCm39) F603L probably damaging Het
St3gal3 T C 4: 117,797,637 (GRCm39) I252V probably benign Het
Tars3 T A 7: 65,327,876 (GRCm39) D528E probably damaging Het
Try10 A G 6: 41,333,608 (GRCm39) T118A probably benign Het
Tshr C T 12: 91,504,268 (GRCm39) S402L probably benign Het
Other mutations in Smg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Smg5 APN 3 88,258,735 (GRCm39) nonsense probably null
IGL00902:Smg5 APN 3 88,260,392 (GRCm39) missense probably benign 0.00
IGL00990:Smg5 APN 3 88,250,345 (GRCm39) critical splice donor site probably null
IGL01371:Smg5 APN 3 88,266,951 (GRCm39) unclassified probably benign
IGL01536:Smg5 APN 3 88,256,552 (GRCm39) missense possibly damaging 0.58
IGL02215:Smg5 APN 3 88,260,305 (GRCm39) missense possibly damaging 0.47
IGL03366:Smg5 APN 3 88,253,759 (GRCm39) nonsense probably null
R0013:Smg5 UTSW 3 88,256,540 (GRCm39) missense probably benign 0.00
R0017:Smg5 UTSW 3 88,258,412 (GRCm39) missense probably damaging 1.00
R0017:Smg5 UTSW 3 88,258,412 (GRCm39) missense probably damaging 1.00
R0129:Smg5 UTSW 3 88,256,540 (GRCm39) missense probably benign 0.00
R0153:Smg5 UTSW 3 88,261,179 (GRCm39) unclassified probably benign
R1386:Smg5 UTSW 3 88,262,978 (GRCm39) missense probably damaging 1.00
R1941:Smg5 UTSW 3 88,252,687 (GRCm39) missense possibly damaging 0.71
R2185:Smg5 UTSW 3 88,258,868 (GRCm39) missense probably benign
R2282:Smg5 UTSW 3 88,252,705 (GRCm39) missense probably benign 0.02
R3615:Smg5 UTSW 3 88,243,758 (GRCm39) missense possibly damaging 0.94
R3616:Smg5 UTSW 3 88,243,758 (GRCm39) missense possibly damaging 0.94
R4687:Smg5 UTSW 3 88,249,776 (GRCm39) missense possibly damaging 0.83
R4726:Smg5 UTSW 3 88,243,758 (GRCm39) missense possibly damaging 0.94
R4801:Smg5 UTSW 3 88,262,999 (GRCm39) nonsense probably null
R4802:Smg5 UTSW 3 88,262,999 (GRCm39) nonsense probably null
R4977:Smg5 UTSW 3 88,263,032 (GRCm39) nonsense probably null
R5384:Smg5 UTSW 3 88,258,600 (GRCm39) missense probably damaging 1.00
R5443:Smg5 UTSW 3 88,261,896 (GRCm39) missense probably damaging 0.99
R5779:Smg5 UTSW 3 88,258,925 (GRCm39) unclassified probably benign
R5860:Smg5 UTSW 3 88,250,214 (GRCm39) missense probably damaging 0.97
R6080:Smg5 UTSW 3 88,258,816 (GRCm39) missense probably benign
R6263:Smg5 UTSW 3 88,249,208 (GRCm39) missense possibly damaging 0.90
R6431:Smg5 UTSW 3 88,258,527 (GRCm39) missense probably benign 0.00
R6722:Smg5 UTSW 3 88,260,332 (GRCm39) missense probably damaging 0.99
R6847:Smg5 UTSW 3 88,249,859 (GRCm39) missense probably damaging 1.00
R6950:Smg5 UTSW 3 88,256,576 (GRCm39) critical splice donor site probably null
R7091:Smg5 UTSW 3 88,258,654 (GRCm39) missense probably benign 0.00
R7395:Smg5 UTSW 3 88,268,378 (GRCm39) missense probably damaging 0.99
R7678:Smg5 UTSW 3 88,261,202 (GRCm39) missense possibly damaging 0.93
R7796:Smg5 UTSW 3 88,256,739 (GRCm39) missense probably damaging 0.96
R8209:Smg5 UTSW 3 88,258,838 (GRCm39) missense probably benign 0.00
R8327:Smg5 UTSW 3 88,252,714 (GRCm39) missense probably damaging 1.00
R8987:Smg5 UTSW 3 88,267,714 (GRCm39) critical splice donor site probably null
R9345:Smg5 UTSW 3 88,261,848 (GRCm39) missense probably damaging 1.00
R9534:Smg5 UTSW 3 88,252,759 (GRCm39) missense probably benign 0.13
R9602:Smg5 UTSW 3 88,250,214 (GRCm39) missense probably damaging 1.00
Z1177:Smg5 UTSW 3 88,260,297 (GRCm39) missense probably benign 0.33
Z1177:Smg5 UTSW 3 88,258,441 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATTGCCCTCTTCTACACTGAG -3'
(R):5'- GAGTGTTTCCACAGTCCCTG -3'

Sequencing Primer
(F):5'- TGCCCTCTTCTACACTGAGAGGAG -3'
(R):5'- ACAGTCCCTGTGGTCCCAC -3'
Posted On 2015-04-29