Incidental Mutation 'R5607:Smg7'
ID 439317
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 043271-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R5607 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 152712746-152778397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152718985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 914 (L914P)
Ref Sequence ENSEMBL: ENSMUSP00000107467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043560] [ENSMUST00000073441] [ENSMUST00000111836]
AlphaFold Q5RJH6
Predicted Effect possibly damaging
Transcript: ENSMUST00000043560
AA Change: L922P

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041241
Gene: ENSMUSG00000042772
AA Change: L922P

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
SMART Domains Protein: ENSMUSP00000073144
Gene: ENSMUSG00000042772

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 damaging
Transcript: ENSMUST00000111836
AA Change: L914P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107467
Gene: ENSMUSG00000042772
AA Change: L914P

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
Meta Mutation Damage Score 0.2385 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.8%
Validation Efficiency 96% (54/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 G T 8: 84,663,886 (GRCm39) G1118W probably damaging Het
Ajap1 T A 4: 153,516,661 (GRCm39) T227S possibly damaging Het
Ankmy1 A G 1: 92,804,740 (GRCm39) F851S probably damaging Het
Blvrb C T 7: 27,158,894 (GRCm39) P98L probably benign Het
Bmpr1b C A 3: 141,563,283 (GRCm39) M220I possibly damaging Het
Cacna1e T A 1: 154,347,086 (GRCm39) N1027I probably benign Het
Cacng4 A T 11: 107,625,610 (GRCm39) V327E probably damaging Het
Casp1 T C 9: 5,303,143 (GRCm39) V199A probably damaging Het
Cdh13 A T 8: 119,484,213 (GRCm39) D158V probably benign Het
Cenpe C A 3: 134,940,837 (GRCm39) S662* probably null Het
Ctnna1 A G 18: 35,382,795 (GRCm39) D647G probably benign Het
Dennd5a C A 7: 109,518,630 (GRCm39) E480* probably null Het
Exoc6 T A 19: 37,566,977 (GRCm39) V258D probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fmn2 G A 1: 174,437,377 (GRCm39) C1116Y probably damaging Het
H2-Aa T C 17: 34,502,816 (GRCm39) T117A possibly damaging Het
Ktn1 TTGTTGTCTTTGTGTT TTGTT 14: 47,971,554 (GRCm39) probably benign Het
Lig1 C A 7: 13,039,933 (GRCm39) T715N probably damaging Het
Lrrc31 C A 3: 30,743,994 (GRCm39) probably null Het
Mcm6 T C 1: 128,283,326 (GRCm39) T60A probably damaging Het
Mex3c T A 18: 73,723,014 (GRCm39) M369K possibly damaging Het
Mmp14 T C 14: 54,676,869 (GRCm39) Y428H probably damaging Het
Msh6 A G 17: 88,294,329 (GRCm39) D1028G probably damaging Het
Myo9a T C 9: 59,771,227 (GRCm39) V933A probably damaging Het
Nepn A T 10: 52,277,233 (GRCm39) D323V probably benign Het
Nrf1 C T 6: 30,126,245 (GRCm39) A150V probably damaging Het
Nxpe5 A G 5: 138,238,033 (GRCm39) T199A probably benign Het
Obscn T G 11: 59,013,674 (GRCm39) K1150Q probably benign Het
Or12j5 A C 7: 140,084,318 (GRCm39) V18G probably benign Het
Or52s1b T C 7: 102,822,056 (GRCm39) T263A probably damaging Het
Or52z12 G A 7: 103,233,506 (GRCm39) W92* probably null Het
Or7a38 A G 10: 78,752,933 (GRCm39) I86M possibly damaging Het
Or7e170 T A 9: 19,795,272 (GRCm39) M110L probably benign Het
Otop1 G A 5: 38,451,848 (GRCm39) G184S possibly damaging Het
Pkp2 G T 16: 16,078,239 (GRCm39) D494Y probably damaging Het
Pop5 G A 5: 115,378,260 (GRCm39) R68Q probably damaging Het
Ppp1r13b T C 12: 111,800,223 (GRCm39) D518G probably benign Het
Preb G T 5: 31,117,307 (GRCm39) probably benign Het
Qrfpr A G 3: 36,235,114 (GRCm39) V292A possibly damaging Het
Rag1 G A 2: 101,474,137 (GRCm39) T335I probably damaging Het
Rbbp6 T A 7: 122,596,309 (GRCm39) V617E probably damaging Het
Sf3a3 A T 4: 124,608,746 (GRCm39) D20V probably damaging Het
Slco1b2 A G 6: 141,631,312 (GRCm39) N649D probably benign Het
Smarcal1 A G 1: 72,625,372 (GRCm39) D173G probably benign Het
Tbc1d32 A T 10: 56,005,246 (GRCm39) S796T possibly damaging Het
Tex14 A G 11: 87,413,404 (GRCm39) T1052A probably benign Het
Tspan1 A G 4: 116,021,277 (GRCm39) V109A possibly damaging Het
Ttbk2 A G 2: 120,637,305 (GRCm39) V51A possibly damaging Het
Tubgcp6 A G 15: 88,995,353 (GRCm39) V419A probably benign Het
Ubr2 G T 17: 47,245,126 (GRCm39) C1633* probably null Het
Uggt2 C T 14: 119,326,611 (GRCm39) G200D possibly damaging Het
Vmn2r25 T C 6: 123,805,318 (GRCm39) E513G possibly damaging Het
Zscan22 G A 7: 12,640,919 (GRCm39) G388S 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
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
Predicted Primers PCR Primer
(F):5'- GTGTACCCAGGCTATGACTCTC -3'
(R):5'- AATTGCATCTCACAGTGATCCTTTC -3'

Sequencing Primer
(F):5'- CCAGGCTATGACTCTCTAATTTGAGG -3'
(R):5'- TTTCTGTCACTAGGACCCCAAGAG -3'
Posted On 2016-10-26