Incidental Mutation 'R8167:Smg7'
ID 633813
Institutional Source Beutler Lab
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)
MMRRC Submission 067593-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R8167 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 152712746-152778397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 152720123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 761 (N761K)
Ref Sequence ENSEMBL: ENSMUSP00000041241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043560] [ENSMUST00000073441] [ENSMUST00000111836]
AlphaFold Q5RJH6
Predicted Effect possibly damaging
Transcript: ENSMUST00000043560
AA Change: N761K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041241
Gene: ENSMUSG00000042772
AA Change: N761K

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: N799K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073144
Gene: ENSMUSG00000042772
AA Change: N799K

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 possibly damaging
Transcript: ENSMUST00000111836
AA Change: N753K

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107467
Gene: ENSMUSG00000042772
AA Change: N753K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T A 7: 43,147,288 (GRCm39) I315F possibly damaging Het
Aadacl2fm3 T A 3: 59,784,632 (GRCm39) D368E probably benign Het
Acin1 G A 14: 54,902,337 (GRCm39) T485I probably benign Het
Adamts2 A T 11: 50,670,541 (GRCm39) I552F probably damaging Het
Anapc11 T A 11: 120,490,112 (GRCm39) N9K probably benign Het
Arhgef18 A T 8: 3,403,636 (GRCm39) probably benign Het
Atp9b T C 18: 80,890,398 (GRCm39) T314A Het
Birc6 T A 17: 74,950,389 (GRCm39) I3214N probably damaging Het
Catsperb A G 12: 101,557,714 (GRCm39) I762V probably benign Het
Cblb T A 16: 51,986,365 (GRCm39) M536K probably benign Het
Ccdc85c C A 12: 108,240,759 (GRCm39) A212S unknown Het
Cdh23 T A 10: 60,150,162 (GRCm39) D2561V probably benign Het
Cdh23 T A 10: 60,173,472 (GRCm39) Y1672F probably damaging Het
Cep83 T C 10: 94,564,579 (GRCm39) S173P possibly damaging Het
Ctc1 C T 11: 68,918,584 (GRCm39) P530S probably damaging Het
D630045J12Rik A G 6: 38,167,484 (GRCm39) probably null Het
Dnah7b A T 1: 46,292,671 (GRCm39) I3019F possibly damaging Het
Dsc1 T C 18: 20,230,258 (GRCm39) D349G probably damaging Het
Ehd2 C G 7: 15,697,917 (GRCm39) G107R probably damaging Het
Epha3 A T 16: 63,388,804 (GRCm39) W816R probably damaging Het
Fam135b T A 15: 71,404,840 (GRCm39) S69C probably null Het
Fbxo43 A G 15: 36,151,917 (GRCm39) F600S probably damaging Het
Flnc A T 6: 29,455,921 (GRCm39) D2117V probably damaging Het
Gas2l3 T A 10: 89,262,342 (GRCm39) T127S probably damaging Het
Gli3 T G 13: 15,900,228 (GRCm39) L1205R probably benign Het
Gm17093 A T 14: 44,758,139 (GRCm39) I107F Het
Gm7298 T A 6: 121,761,414 (GRCm39) C1323* probably null Het
H2-D1 A G 17: 35,485,741 (GRCm39) T89A Het
Hira T G 16: 18,715,259 (GRCm39) D52E probably benign Het
Ighv6-6 G C 12: 114,398,525 (GRCm39) Y80* probably null Het
Kat6b C T 14: 21,719,953 (GRCm39) T1435I probably damaging Het
Kcna1 C A 6: 126,620,443 (GRCm39) probably benign Het
Kif24 C A 4: 41,392,957 (GRCm39) R1284L possibly damaging Het
Kremen2 A C 17: 23,962,314 (GRCm39) C173G probably damaging Het
Krtap24-1 G C 16: 88,408,707 (GRCm39) Q140E probably benign Het
Lrrc66 C A 5: 73,786,952 (GRCm39) G133* probably null Het
Mast1 C A 8: 85,647,987 (GRCm39) R498L probably damaging Het
Myom3 T C 4: 135,534,504 (GRCm39) I1231T possibly damaging Het
Nid2 G A 14: 19,860,131 (GRCm39) V1350I possibly damaging Het
Or4f59 A T 2: 111,872,789 (GRCm39) V196D possibly damaging Het
Or8j3c A G 2: 86,253,484 (GRCm39) C179R probably damaging Het
Or9r3 T C 10: 129,948,350 (GRCm39) Q103R probably damaging Het
Pde4a A G 9: 21,117,469 (GRCm39) D577G possibly damaging Het
Pde4d T A 13: 109,578,855 (GRCm39) N36K probably benign Het
Plekhg1 A T 10: 3,907,452 (GRCm39) S845C Het
Plekhg1 G A 10: 3,907,453 (GRCm39) S845N Het
Plod1 C T 4: 148,004,658 (GRCm39) D481N probably damaging Het
Plxna4 T A 6: 32,493,981 (GRCm39) M212L probably damaging Het
Ppip5k1 C A 2: 121,173,282 (GRCm39) E464* probably null Het
Raph1 T A 1: 60,529,270 (GRCm39) M664L unknown Het
Rbm11 A C 16: 75,395,673 (GRCm39) M115L probably benign Het
Rerg T C 6: 137,034,869 (GRCm39) H45R possibly damaging Het
Rnf43 A G 11: 87,618,232 (GRCm39) E47G probably benign Het
Rsph1 A G 17: 31,496,260 (GRCm39) probably benign Het
Safb A G 17: 56,892,286 (GRCm39) E42G unknown Het
Scn1a A T 2: 66,155,182 (GRCm39) D592E probably damaging Het
Sdf4 T G 4: 156,093,379 (GRCm39) V237G possibly damaging Het
Slc44a2 C A 9: 21,258,068 (GRCm39) H439Q possibly damaging Het
Snrpb2 A G 2: 142,910,284 (GRCm39) E114G probably benign Het
Spmip11 A G 15: 98,486,548 (GRCm39) H106R probably benign Het
Ssh1 T C 5: 114,090,051 (GRCm39) D346G possibly damaging Het
Svopl T A 6: 37,993,979 (GRCm39) I351F probably damaging Het
Tgfb2 A G 1: 186,422,942 (GRCm39) S136P possibly damaging Het
Thsd7a A T 6: 12,317,400 (GRCm39) L1636* probably null Het
Tmc2 A G 2: 130,083,488 (GRCm39) T482A probably benign Het
Tnk2 C A 16: 32,499,080 (GRCm39) P798T probably damaging Het
Trim5 T C 7: 103,927,630 (GRCm39) Y170C probably damaging Het
Ttll10 T C 4: 156,129,213 (GRCm39) M310V probably null Het
Unc13c T A 9: 73,643,985 (GRCm39) T1160S probably damaging Het
Usp25 A T 16: 76,904,819 (GRCm39) D795V probably damaging Het
Usp28 T A 9: 48,949,148 (GRCm39) V914E probably damaging Het
Utrn A T 10: 12,547,558 (GRCm39) C1627* probably null Het
Vmn1r28 C A 6: 58,243,052 (GRCm39) F298L noncoding transcript Het
Vps29 T C 5: 122,500,877 (GRCm39) S69P possibly damaging Het
Zfp703 T A 8: 27,469,782 (GRCm39) L482H probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GCCATGCTGTAGGAAGAATCC -3'
(R):5'- AAAAGATGGGAGTTCAAAGTCCTTG -3'

Sequencing Primer
(F):5'- AGTAGAACTCTGGGACCTTGACTTC -3'
(R):5'- ATGGGAGTTCAAAGTCCTTGTCTTC -3'
Posted On 2020-07-13