Incidental Mutation 'R1941:Smg5'
ID 213990
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 039959-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1941 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 88243567-88269645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88252687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 158 (S158T)
Ref Sequence ENSEMBL: ENSMUSP00000001451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001451]
AlphaFold Q6ZPY2
Predicted Effect possibly damaging
Transcript: ENSMUST00000001451
AA Change: S158T

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415
AA Change: S158T

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 unknown
Transcript: ENSMUST00000192009
AA Change: S100T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194942
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.6%
  • 10x: 94.8%
  • 20x: 91.1%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b A C 7: 101,229,524 (GRCm39) F125C probably damaging Het
Camta1 T C 4: 151,159,612 (GRCm39) Y1616C probably damaging Het
Cep162 T G 9: 87,082,048 (GRCm39) I1286L probably benign Het
Chd9 T A 8: 91,703,697 (GRCm39) probably null Het
Col11a2 T A 17: 34,263,925 (GRCm39) S247T probably benign Het
Col6a4 T G 9: 105,952,209 (GRCm39) D563A probably benign Het
Crebbp C T 16: 3,997,555 (GRCm39) M176I probably benign Het
Cyp4a12b A G 4: 115,295,256 (GRCm39) N454S probably damaging Het
Dhx8 T C 11: 101,643,024 (GRCm39) probably null Het
Dock7 G A 4: 98,872,952 (GRCm39) L1165F probably benign Het
Fam117a A T 11: 95,271,624 (GRCm39) N399Y probably damaging Het
Fmn1 A G 2: 113,195,488 (GRCm39) K396R unknown Het
Foxk1 T A 5: 142,442,429 (GRCm39) V693E possibly damaging Het
Gml A G 15: 74,689,020 (GRCm39) L10P probably damaging Het
Gpx8 A G 13: 113,182,809 (GRCm39) L34P probably damaging Het
Kank2 A G 9: 21,684,162 (GRCm39) L689P possibly damaging Het
Mt4 G A 8: 94,864,874 (GRCm39) C16Y possibly damaging Het
Naa15 C A 3: 51,363,355 (GRCm39) Y346* probably null Het
Ntrk3 C T 7: 77,897,010 (GRCm39) V676I probably damaging Het
Oasl2 G A 5: 115,049,423 (GRCm39) probably benign Het
Or1e1c T A 11: 73,266,447 (GRCm39) F294I probably damaging Het
Or6c215 T A 10: 129,638,281 (GRCm39) M38L probably benign Het
Or6c8 T G 10: 128,915,823 (GRCm39) N3T probably damaging Het
Or7e169 G A 9: 19,757,246 (GRCm39) S223F probably damaging Het
Or7g20 A C 9: 18,947,162 (GRCm39) T248P possibly damaging Het
Otud7a C T 7: 63,379,574 (GRCm39) R273* probably null Het
Pcare T G 17: 72,059,063 (GRCm39) T205P probably damaging Het
Pde11a C T 2: 76,121,594 (GRCm39) R329Q probably benign Het
Pga5 G T 19: 10,646,820 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,441,528 (GRCm39) probably null Het
Pus10 A G 11: 23,661,198 (GRCm39) Q262R possibly damaging Het
Rbm17 T C 2: 11,593,885 (GRCm39) K241R possibly damaging Het
Rp1l1 T G 14: 64,259,701 (GRCm39) D114E probably damaging Het
Safb T A 17: 56,905,992 (GRCm39) probably benign Het
Sgpl1 T C 10: 60,939,086 (GRCm39) Y371C probably damaging Het
Siglec1 C A 2: 130,920,051 (GRCm39) A827S possibly damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spaca6 A G 17: 18,058,664 (GRCm39) I71V probably benign Het
Spaca6 A G 17: 18,058,692 (GRCm39) E80G probably damaging Het
Steap1 C A 5: 5,790,541 (GRCm39) A136S probably damaging Het
Supv3l1 G C 10: 62,285,391 (GRCm39) P25R probably benign Het
Tex21 T C 12: 76,268,458 (GRCm39) K108R possibly damaging Het
Tnc A G 4: 63,933,201 (GRCm39) Y688H probably damaging Het
Tnr G A 1: 159,677,704 (GRCm39) E30K possibly damaging Het
Tnrc18 G T 5: 142,800,905 (GRCm39) P18T probably damaging Het
Ttk T G 9: 83,735,179 (GRCm39) S422A probably benign Het
Ubap1 A G 4: 41,378,968 (GRCm39) K61E probably damaging Het
Ubr2 C T 17: 47,284,952 (GRCm39) R522H probably damaging Het
Vwf A T 6: 125,616,242 (GRCm39) E1185D possibly damaging Het
Wwp2 A G 8: 108,244,547 (GRCm39) T194A probably benign Het
Zfp36 A G 7: 28,077,071 (GRCm39) V279A probably damaging Het
Zfp870 C A 17: 33,101,778 (GRCm39) R517L possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TGTTTCCTAAATGCGTGTCTGC -3'
(R):5'- CTCCATAGAGAACTGACTTGCAGG -3'

Sequencing Primer
(F):5'- CGTGTCTGCTCAGTTCTATAAGACAG -3'
(R):5'- CAGAACACTGTTACTGTTTCTTTAGC -3'
Posted On 2014-07-14