Incidental Mutation 'R0017:Smg5'
ID 8314
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 038312-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0017 (G1)
Quality Score
Status Validated
Chromosome 3
Chromosomal Location 88243567-88269645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88258412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 461 (R461L)
Ref Sequence ENSEMBL: ENSMUSP00000001451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001451]
AlphaFold Q6ZPY2
Predicted Effect probably damaging
Transcript: ENSMUST00000001451
AA Change: R461L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415
AA Change: R461L

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 0.1106 question?
Coding Region Coverage
  • 1x: 79.1%
  • 3x: 69.1%
  • 10x: 41.8%
  • 20x: 21.2%
Validation Efficiency 93% (76/82)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G T 17: 9,226,938 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,727,065 (GRCm39) N429S probably benign Het
Cdca8 T C 4: 124,814,168 (GRCm39) T208A probably benign Het
Dcdc5 G A 2: 106,187,541 (GRCm39) noncoding transcript Het
Fig4 A G 10: 41,149,003 (GRCm39) Y150H possibly damaging Het
Fsip2 G A 2: 82,822,416 (GRCm39) V6050M probably damaging Het
Gpld1 A G 13: 25,174,101 (GRCm39) D842G probably damaging Het
Hmgcr A G 13: 96,788,597 (GRCm39) probably benign Het
Ifit2 A T 19: 34,550,973 (GRCm39) N171I probably damaging Het
Ipo11 T A 13: 107,023,238 (GRCm39) I416L probably benign Het
Kcnab1 G A 3: 65,264,527 (GRCm39) V259M probably damaging Het
Kif5c A G 2: 49,622,725 (GRCm39) T526A probably benign Het
Nucb2 A G 7: 116,132,386 (GRCm39) D331G probably benign Het
Pfdn6 T C 17: 34,158,538 (GRCm39) R79G probably damaging Het
Pkd1 G T 17: 24,797,513 (GRCm39) probably null Het
Ptpro T C 6: 137,393,825 (GRCm39) V831A probably benign Het
Reg3b T A 6: 78,349,844 (GRCm39) M128K possibly damaging Het
Rif1 A G 2: 52,006,686 (GRCm39) T2207A probably benign Het
Rpa1 A C 11: 75,205,687 (GRCm39) N223K probably null Het
Rras2 T C 7: 113,647,490 (GRCm39) probably benign Het
Scyl3 T A 1: 163,767,538 (GRCm39) I204N possibly damaging Het
Slc45a1 C A 4: 150,714,023 (GRCm39) D741Y possibly damaging Het
Slco1a5 A T 6: 142,182,061 (GRCm39) probably benign Het
Sync G A 4: 129,187,537 (GRCm39) V190M probably damaging Het
Tshr A T 12: 91,504,660 (GRCm39) I533F possibly damaging Het
Tsn T C 1: 118,228,589 (GRCm39) D211G probably damaging Het
Ttn G A 2: 76,621,988 (GRCm39) T15518I probably benign Het
Vapb A G 2: 173,613,397 (GRCm39) T99A probably benign Het
Zfp280d A T 9: 72,246,292 (GRCm39) probably null 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
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
R4008:Smg5 UTSW 3 88,256,465 (GRCm39) missense probably benign 0.01
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
Posted On 2012-11-21