Incidental Mutation 'IGL02680:Smg7'
ID 303339
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smg7
Ensembl Gene ENSMUSG00000042772
Gene Name SMG7 nonsense mediated mRNA decay factor
Synonyms 9430023P16Rik, Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # IGL02680
Quality Score
Status
Chromosome 1
Chromosomal Location 152712746-152778397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 152721145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 727 (N727I)
Ref Sequence ENSEMBL: ENSMUSP00000073144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043560] [ENSMUST00000073441] [ENSMUST00000111836]
AlphaFold Q5RJH6
Predicted Effect probably benign
Transcript: ENSMUST00000043560
AA Change: N689I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000041241
Gene: ENSMUSG00000042772
AA Change: N689I

DomainStartEndE-ValueType
Pfam:EST1 63 177 3.4e-30 PFAM
Pfam:EST1_DNA_bind 179 438 3.3e-64 PFAM
low complexity region 457 465 N/A INTRINSIC
low complexity region 615 633 N/A INTRINSIC
low complexity region 682 710 N/A INTRINSIC
low complexity region 711 729 N/A INTRINSIC
low complexity region 874 898 N/A INTRINSIC
low complexity region 906 922 N/A INTRINSIC
low complexity region 931 947 N/A INTRINSIC
low complexity region 1008 1034 N/A INTRINSIC
low complexity region 1126 1140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073441
AA Change: N727I

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000073144
Gene: ENSMUSG00000042772
AA Change: N727I

DomainStartEndE-ValueType
Pfam:EST1 52 172 2.3e-26 PFAM
Pfam:EST1_DNA_bind 171 430 3.6e-66 PFAM
low complexity region 449 457 N/A INTRINSIC
low complexity region 653 671 N/A INTRINSIC
low complexity region 720 748 N/A INTRINSIC
low complexity region 749 767 N/A INTRINSIC
low complexity region 919 935 N/A INTRINSIC
low complexity region 996 1022 N/A INTRINSIC
low complexity region 1114 1128 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111836
AA Change: N681I

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107467
Gene: ENSMUSG00000042772
AA Change: N681I

DomainStartEndE-ValueType
Pfam:EST1 52 172 2.3e-26 PFAM
Pfam:EST1_DNA_bind 171 430 3.7e-66 PFAM
low complexity region 449 457 N/A INTRINSIC
low complexity region 607 625 N/A INTRINSIC
low complexity region 674 702 N/A INTRINSIC
low complexity region 703 721 N/A INTRINSIC
low complexity region 866 890 N/A INTRINSIC
low complexity region 898 914 N/A INTRINSIC
low complexity region 923 939 N/A INTRINSIC
low complexity region 1000 1026 N/A INTRINSIC
low complexity region 1118 1132 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188937
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,635,949 (GRCm39) probably benign Het
Aldh1a3 C A 7: 66,055,895 (GRCm39) V299F probably damaging Het
Ankar A G 1: 72,709,275 (GRCm39) Y747H probably damaging Het
Armc9 T C 1: 86,180,000 (GRCm39) I107T probably damaging Het
Atmin A T 8: 117,684,236 (GRCm39) D632V probably damaging Het
Atp5pd C A 11: 115,306,840 (GRCm39) probably null Het
Cadps2 T C 6: 23,838,895 (GRCm39) E81G probably damaging Het
Cep162 A G 9: 87,128,797 (GRCm39) V67A possibly damaging Het
Cfap100 C T 6: 90,389,217 (GRCm39) V335I probably benign Het
Dmtf1 A T 5: 9,180,381 (GRCm39) D181E probably benign Het
Efcab14 T A 4: 115,597,615 (GRCm39) I70N probably damaging Het
Frzb T C 2: 80,254,970 (GRCm39) T189A possibly damaging Het
Fstl3 G A 10: 79,614,506 (GRCm39) W69* probably null Het
Gjb3 C T 4: 127,219,815 (GRCm39) C239Y probably damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Inpp5d A G 1: 87,629,205 (GRCm39) T397A possibly damaging Het
Myh11 G T 16: 14,027,384 (GRCm39) H1283Q probably benign Het
Naip6 A G 13: 100,420,256 (GRCm39) V1338A probably benign Het
Obscn A G 11: 58,890,846 (GRCm39) S7229P unknown Het
Or1l4b A T 2: 37,036,427 (GRCm39) I68F probably damaging Het
Pfkp G A 13: 6,650,708 (GRCm39) probably benign Het
Pop1 T A 15: 34,502,619 (GRCm39) I102K probably damaging Het
Ppp1r21 A G 17: 88,891,290 (GRCm39) M732V probably benign Het
Rsc1a1 A G 4: 141,412,408 (GRCm39) V168A probably benign Het
Scd2 G A 19: 44,289,685 (GRCm39) V227I probably benign Het
Scn10a T A 9: 119,495,125 (GRCm39) Y372F probably damaging Het
Slc35c2 G T 2: 165,124,055 (GRCm39) T94K probably damaging Het
Slc41a2 A G 10: 83,119,728 (GRCm39) Y345H probably benign Het
Slc5a11 T C 7: 122,864,854 (GRCm39) S387P probably damaging Het
Steap2 A T 5: 5,723,474 (GRCm39) F469I probably benign Het
Tex2 T A 11: 106,459,058 (GRCm39) probably benign Het
Tmem79 A G 3: 88,240,270 (GRCm39) L226P probably damaging Het
Tnfrsf14 G T 4: 155,008,927 (GRCm39) C165* probably null Het
Trim21 A G 7: 102,208,870 (GRCm39) V283A probably benign Het
Vmn2r16 A T 5: 109,487,948 (GRCm39) M274L probably benign Het
Other mutations in Smg7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01751:Smg7 APN 1 152,719,812 (GRCm39) missense possibly damaging 0.68
IGL02320:Smg7 APN 1 152,744,088 (GRCm39) missense possibly damaging 0.49
IGL02336:Smg7 APN 1 152,719,030 (GRCm39) missense probably benign
IGL03232:Smg7 APN 1 152,715,907 (GRCm39) missense probably damaging 1.00
chill UTSW 1 152,715,887 (GRCm39) splice site probably null
R0322:Smg7 UTSW 1 152,725,624 (GRCm39) critical splice donor site probably null
R0540:Smg7 UTSW 1 152,731,713 (GRCm39) missense probably benign 0.00
R0685:Smg7 UTSW 1 152,742,399 (GRCm39) missense probably damaging 1.00
R0707:Smg7 UTSW 1 152,746,508 (GRCm39) splice site probably null
R1109:Smg7 UTSW 1 152,721,334 (GRCm39) missense probably damaging 1.00
R1118:Smg7 UTSW 1 152,742,326 (GRCm39) splice site probably benign
R1119:Smg7 UTSW 1 152,742,326 (GRCm39) splice site probably benign
R1458:Smg7 UTSW 1 152,731,594 (GRCm39) splice site probably null
R1759:Smg7 UTSW 1 152,724,597 (GRCm39) missense probably benign 0.20
R1846:Smg7 UTSW 1 152,724,601 (GRCm39) missense probably damaging 1.00
R2015:Smg7 UTSW 1 152,736,259 (GRCm39) missense probably damaging 1.00
R2155:Smg7 UTSW 1 152,716,064 (GRCm39) missense possibly damaging 0.49
R2199:Smg7 UTSW 1 152,730,079 (GRCm39) missense probably damaging 1.00
R2234:Smg7 UTSW 1 152,744,064 (GRCm39) missense probably damaging 1.00
R2235:Smg7 UTSW 1 152,744,064 (GRCm39) missense probably damaging 1.00
R3861:Smg7 UTSW 1 152,728,349 (GRCm39) missense probably null 1.00
R4597:Smg7 UTSW 1 152,716,052 (GRCm39) critical splice donor site probably null
R4672:Smg7 UTSW 1 152,721,164 (GRCm39) missense probably damaging 1.00
R4851:Smg7 UTSW 1 152,720,020 (GRCm39) missense probably benign 0.00
R5486:Smg7 UTSW 1 152,721,927 (GRCm39) missense probably damaging 0.97
R5607:Smg7 UTSW 1 152,718,985 (GRCm39) missense probably damaging 0.98
R6131:Smg7 UTSW 1 152,720,962 (GRCm39) critical splice donor site probably null
R6396:Smg7 UTSW 1 152,724,351 (GRCm39) missense probably benign 0.33
R6401:Smg7 UTSW 1 152,715,887 (GRCm39) splice site probably null
R6905:Smg7 UTSW 1 152,725,757 (GRCm39) splice site probably null
R6961:Smg7 UTSW 1 152,717,334 (GRCm39) nonsense probably null
R7051:Smg7 UTSW 1 152,724,601 (GRCm39) missense probably damaging 1.00
R7124:Smg7 UTSW 1 152,753,831 (GRCm39) missense probably benign 0.01
R7146:Smg7 UTSW 1 152,737,576 (GRCm39) missense probably benign 0.34
R7573:Smg7 UTSW 1 152,735,240 (GRCm39) missense probably damaging 1.00
R7578:Smg7 UTSW 1 152,721,181 (GRCm39) missense probably damaging 1.00
R7621:Smg7 UTSW 1 152,717,295 (GRCm39) missense possibly damaging 0.95
R7956:Smg7 UTSW 1 152,719,953 (GRCm39) missense probably benign 0.02
R8167:Smg7 UTSW 1 152,720,123 (GRCm39) missense possibly damaging 0.90
R8751:Smg7 UTSW 1 152,719,129 (GRCm39) missense probably damaging 0.99
R8905:Smg7 UTSW 1 152,715,817 (GRCm39) missense probably damaging 1.00
R9082:Smg7 UTSW 1 152,715,928 (GRCm39) missense probably damaging 0.96
R9229:Smg7 UTSW 1 152,720,971 (GRCm39) missense possibly damaging 0.72
R9260:Smg7 UTSW 1 152,737,549 (GRCm39) missense probably damaging 1.00
R9262:Smg7 UTSW 1 152,721,262 (GRCm39) missense probably damaging 1.00
R9323:Smg7 UTSW 1 152,731,753 (GRCm39) missense probably benign 0.01
R9519:Smg7 UTSW 1 152,735,196 (GRCm39) missense probably damaging 1.00
R9732:Smg7 UTSW 1 152,736,212 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16