Incidental Mutation 'IGL01751:Smg7'
ID 153130
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 # IGL01751
Quality Score
Status
Chromosome 1
Chromosomal Location 152712746-152778397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152719812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 903 (D903G)
Ref Sequence ENSEMBL: ENSMUSP00000073144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043560] [ENSMUST00000073441] [ENSMUST00000111836]
AlphaFold Q5RJH6
Predicted Effect possibly damaging
Transcript: ENSMUST00000043560
AA Change: D865G

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000041241
Gene: ENSMUSG00000042772
AA Change: D865G

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 possibly damaging
Transcript: ENSMUST00000073441
AA Change: D903G

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073144
Gene: ENSMUSG00000042772
AA Change: D903G

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: D857G

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107467
Gene: ENSMUSG00000042772
AA Change: D857G

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,979,981 (GRCm39) probably null Het
Abtb3 C A 10: 85,490,366 (GRCm39) Q1011K probably damaging Het
Aoc1l2 A T 6: 48,907,522 (GRCm39) H174L possibly damaging Het
Auts2 G T 5: 131,501,198 (GRCm39) Q72K probably damaging Het
Ccdc7b A T 8: 129,863,049 (GRCm39) probably benign Het
Frem3 A G 8: 81,342,372 (GRCm39) E1555G probably benign Het
Gm5263 T G 1: 146,296,302 (GRCm39) noncoding transcript Het
Gm5828 A G 1: 16,840,208 (GRCm39) noncoding transcript Het
Gm6605 T C 7: 38,147,630 (GRCm39) noncoding transcript Het
Gvin3 T A 7: 106,201,516 (GRCm39) N576I possibly damaging Het
Hps3 T C 3: 20,065,130 (GRCm39) D638G probably damaging Het
Igdcc4 A T 9: 65,039,014 (GRCm39) N887I probably damaging Het
Itpkc G A 7: 26,912,491 (GRCm39) probably benign Het
Mfge8 A G 7: 78,786,403 (GRCm39) probably null Het
Mrc2 G T 11: 105,216,560 (GRCm39) L116F probably benign Het
Necab1 T C 4: 14,978,171 (GRCm39) D226G probably damaging Het
Neurod2 T C 11: 98,218,201 (GRCm39) E321G possibly damaging Het
Obp2b G T 2: 25,627,760 (GRCm39) V59L possibly damaging Het
Olr1 T C 6: 129,465,811 (GRCm39) N65S possibly damaging Het
Or14c39 A T 7: 86,343,997 (GRCm39) Q111L probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or5d43 A T 2: 88,104,977 (GRCm39) C139S possibly damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Rock1 A G 18: 10,079,113 (GRCm39) probably null Het
Scn3a T A 2: 65,291,596 (GRCm39) M1717L possibly damaging Het
Tlr1 A T 5: 65,083,290 (GRCm39) L429* probably null Het
Ttll9 A T 2: 152,825,025 (GRCm39) N68I probably damaging Het
Ttn A G 2: 76,567,943 (GRCm39) V25904A possibly damaging Het
Uaca G A 9: 60,777,139 (GRCm39) V507M probably damaging Het
Vmn1r195 G T 13: 22,463,421 (GRCm39) C297F probably benign Het
Zdhhc2 G A 8: 40,926,042 (GRCm39) A346T probably benign Het
Other mutations in Smg7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02320:Smg7 APN 1 152,744,088 (GRCm39) missense possibly damaging 0.49
IGL02336:Smg7 APN 1 152,719,030 (GRCm39) missense probably benign
IGL02680:Smg7 APN 1 152,721,145 (GRCm39) missense probably benign 0.15
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 2014-02-04