Incidental Mutation 'R8557:Smg6'
ID 660171
Institutional Source Beutler Lab
Gene Symbol Smg6
Ensembl Gene ENSMUSG00000038290
Gene Name SMG6 nonsense mediated mRNA decay factor
Synonyms Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
MMRRC Submission 068520-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8557 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 74816665-75055274 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75047064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1252 (N1252K)
Ref Sequence ENSEMBL: ENSMUSP00000043555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045281]
AlphaFold P61406
Predicted Effect probably damaging
Transcript: ENSMUST00000045281
AA Change: N1252K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043555
Gene: ENSMUSG00000038290
AA Change: N1252K

DomainStartEndE-ValueType
internal_repeat_1 42 99 7.68e-6 PROSPERO
internal_repeat_1 135 188 7.68e-6 PROSPERO
low complexity region 212 227 N/A INTRINSIC
low complexity region 257 271 N/A INTRINSIC
low complexity region 376 390 N/A INTRINSIC
low complexity region 417 426 N/A INTRINSIC
low complexity region 436 453 N/A INTRINSIC
low complexity region 538 549 N/A INTRINSIC
coiled coil region 574 600 N/A INTRINSIC
Pfam:EST1 637 742 1.8e-18 PFAM
Pfam:EST1_DNA_bind 750 1106 1.6e-78 PFAM
coiled coil region 1197 1234 N/A INTRINSIC
PINc 1245 1396 2.85e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130145
SMART Domains Protein: ENSMUSP00000120229
Gene: ENSMUSG00000038290

DomainStartEndE-ValueType
coiled coil region 35 61 N/A INTRINSIC
Pfam:EST1 99 204 1.3e-19 PFAM
Pfam:EST1_DNA_bind 212 339 7.3e-37 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygosity for insertion of a transgene into intron 6 of the gene results in embryonic lethality. Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for a conditional allele activated in embryonic stem cells exhibit defective telomere maintenance and NMD. [provided by MGI curators]
Allele List at MGI

All alleles(52) : Gene trapped(52)

Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,055,954 (GRCm39) V230A probably benign Het
Ablim2 A T 5: 35,985,483 (GRCm39) H260L probably damaging Het
Acp4 C T 7: 43,905,272 (GRCm39) probably null Het
Acvr2b G T 9: 119,261,654 (GRCm39) V416L probably damaging Het
Adipoq A T 16: 22,965,430 (GRCm39) probably benign Het
Amhr2 A G 15: 102,362,847 (GRCm39) Q538R probably benign Het
Apoh C T 11: 108,300,062 (GRCm39) T237I probably damaging Het
Aspm C T 1: 139,384,494 (GRCm39) T97I probably benign Het
Atg16l2 A T 7: 100,939,863 (GRCm39) H499Q probably benign Het
Bicdl2 G A 17: 23,886,536 (GRCm39) R375H probably benign Het
C3 T C 17: 57,531,383 (GRCm39) T304A probably benign Het
Cast A T 13: 74,852,301 (GRCm39) D647E probably damaging Het
Chrm2 T C 6: 36,501,010 (GRCm39) V289A probably benign Het
Clock T C 5: 76,377,217 (GRCm39) D694G probably damaging Het
Cyp4a31 C T 4: 115,427,438 (GRCm39) R215C possibly damaging Het
Dctn2 T C 10: 127,114,062 (GRCm39) L334P probably damaging Het
Dnah11 A G 12: 117,842,247 (GRCm39) I4444T probably benign Het
Egf C A 3: 129,548,600 (GRCm39) R5L unknown Het
Ercc1 A G 7: 19,082,480 (GRCm39) N11S probably benign Het
Eri3 T C 4: 117,472,520 (GRCm39) S113P possibly damaging Het
Fasn A G 11: 120,706,610 (GRCm39) V958A probably benign Het
Fgf10 A G 13: 118,918,132 (GRCm39) K140R probably benign Het
Gfra2 G A 14: 71,214,737 (GRCm39) M163I probably benign Het
Gm14403 T C 2: 177,201,354 (GRCm39) I191T probably damaging Het
Hdlbp T A 1: 93,341,219 (GRCm39) E977D probably damaging Het
Hectd4 A G 5: 121,448,714 (GRCm39) N354S possibly damaging Het
Hpgds A T 6: 65,096,999 (GRCm39) I170N probably benign Het
Limk2 A G 11: 3,296,379 (GRCm39) V356A possibly damaging Het
Map4 A G 9: 109,893,370 (GRCm39) probably null Het
Mettl13 C T 1: 162,371,921 (GRCm39) G316D possibly damaging Het
Mia2 T A 12: 59,148,274 (GRCm39) L45I probably damaging Het
Mier1 T A 4: 102,996,543 (GRCm39) probably null Het
Mob3a G T 10: 80,527,008 (GRCm39) R106S probably benign Het
Mug2 T A 6: 122,040,660 (GRCm39) F737I probably damaging Het
Myo7a C T 7: 97,703,081 (GRCm39) A2053T probably benign Het
Myrip A G 9: 120,246,252 (GRCm39) S127G probably benign Het
Naaladl2 T A 3: 24,262,528 (GRCm39) K395I probably benign Het
Nedd4l A T 18: 65,336,986 (GRCm39) M678L probably benign Het
Nefh A T 11: 4,891,233 (GRCm39) I462N probably damaging Het
Nfe2 A G 15: 103,157,025 (GRCm39) M322T probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or2z2 T A 11: 58,346,562 (GRCm39) D71V probably damaging Het
Or56b1 T A 7: 104,285,103 (GRCm39) V74E possibly damaging Het
Pkdcc A G 17: 83,528,495 (GRCm39) N288S probably benign Het
Sacs G A 14: 61,444,725 (GRCm39) C2257Y probably damaging Het
Sec23a G T 12: 59,052,056 (GRCm39) Q90K probably damaging Het
Shisal2a T A 4: 108,225,085 (GRCm39) N159I probably benign Het
Slc30a6 A G 17: 74,712,685 (GRCm39) T61A possibly damaging Het
Slc39a11 C A 11: 113,141,385 (GRCm39) A234S probably damaging Het
Spata2 A T 2: 167,326,227 (GRCm39) D197E probably damaging Het
Spen C T 4: 141,197,681 (GRCm39) A3396T probably benign Het
Spocd1 T C 4: 129,842,761 (GRCm39) F59L probably damaging Het
Tectb T A 19: 55,181,105 (GRCm39) probably benign Het
Tnnc1 G A 14: 30,932,562 (GRCm39) V82I probably damaging Het
Traf7 A T 17: 24,729,015 (GRCm39) V513D probably damaging Het
Tut4 T A 4: 108,399,908 (GRCm39) probably null Het
Vmn2r111 A T 17: 22,790,910 (GRCm39) Y129* probably null Het
Vrtn T A 12: 84,696,690 (GRCm39) F480Y probably benign Het
Vwa8 A T 14: 79,246,649 (GRCm39) I664F probably damaging Het
Vwde A T 6: 13,193,136 (GRCm39) V401E probably damaging Het
Zfp655 A T 5: 145,180,835 (GRCm39) N231I probably benign Het
Other mutations in Smg6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Smg6 APN 11 74,819,974 (GRCm39) missense probably benign
IGL01146:Smg6 APN 11 74,821,254 (GRCm39) nonsense probably null
IGL01505:Smg6 APN 11 75,047,117 (GRCm39) missense probably damaging 1.00
IGL01541:Smg6 APN 11 74,816,770 (GRCm39) missense probably benign 0.43
IGL01636:Smg6 APN 11 74,825,929 (GRCm39) critical splice donor site probably null
IGL02379:Smg6 APN 11 74,944,751 (GRCm39) missense probably damaging 1.00
IGL02794:Smg6 APN 11 74,944,760 (GRCm39) missense probably damaging 0.99
IGL02964:Smg6 APN 11 74,821,576 (GRCm39) critical splice donor site probably null
IGL03057:Smg6 APN 11 74,826,260 (GRCm39) nonsense probably null
1mM(1):Smg6 UTSW 11 74,825,815 (GRCm39) splice site probably benign
IGL03097:Smg6 UTSW 11 74,823,252 (GRCm39) missense probably damaging 1.00
PIT4802001:Smg6 UTSW 11 75,046,991 (GRCm39) missense probably damaging 0.96
R0269:Smg6 UTSW 11 75,053,757 (GRCm39) missense probably benign
R0344:Smg6 UTSW 11 74,820,647 (GRCm39) missense probably damaging 1.00
R0437:Smg6 UTSW 11 74,820,527 (GRCm39) missense probably damaging 1.00
R0452:Smg6 UTSW 11 74,821,039 (GRCm39) missense probably benign
R0511:Smg6 UTSW 11 74,819,884 (GRCm39) missense probably damaging 1.00
R0617:Smg6 UTSW 11 75,053,757 (GRCm39) missense probably benign
R0737:Smg6 UTSW 11 75,050,662 (GRCm39) missense probably damaging 1.00
R1715:Smg6 UTSW 11 74,820,256 (GRCm39) missense probably benign
R1780:Smg6 UTSW 11 74,836,942 (GRCm39) missense probably damaging 1.00
R1927:Smg6 UTSW 11 75,033,674 (GRCm39) missense probably damaging 1.00
R2073:Smg6 UTSW 11 74,821,120 (GRCm39) missense probably damaging 1.00
R2171:Smg6 UTSW 11 74,929,472 (GRCm39) missense probably damaging 1.00
R2513:Smg6 UTSW 11 74,820,502 (GRCm39) missense probably damaging 1.00
R3943:Smg6 UTSW 11 74,820,367 (GRCm39) missense probably damaging 1.00
R3944:Smg6 UTSW 11 74,820,367 (GRCm39) missense probably damaging 1.00
R4275:Smg6 UTSW 11 74,884,700 (GRCm39) intron probably benign
R4369:Smg6 UTSW 11 74,823,269 (GRCm39) nonsense probably null
R4452:Smg6 UTSW 11 74,880,967 (GRCm39) missense probably benign 0.14
R4864:Smg6 UTSW 11 74,820,988 (GRCm39) missense possibly damaging 0.89
R4885:Smg6 UTSW 11 74,932,744 (GRCm39) missense probably damaging 1.00
R5043:Smg6 UTSW 11 74,820,721 (GRCm39) missense possibly damaging 0.86
R5189:Smg6 UTSW 11 74,932,822 (GRCm39) missense probably damaging 1.00
R5378:Smg6 UTSW 11 74,932,820 (GRCm39) missense possibly damaging 0.61
R5518:Smg6 UTSW 11 74,944,724 (GRCm39) missense probably damaging 0.99
R5725:Smg6 UTSW 11 74,821,439 (GRCm39) missense probably benign 0.45
R5746:Smg6 UTSW 11 75,030,113 (GRCm39) missense probably damaging 1.00
R6151:Smg6 UTSW 11 75,047,033 (GRCm39) missense probably damaging 0.96
R6319:Smg6 UTSW 11 75,047,048 (GRCm39) missense probably damaging 1.00
R6349:Smg6 UTSW 11 74,944,600 (GRCm39) missense possibly damaging 0.94
R6500:Smg6 UTSW 11 74,821,331 (GRCm39) missense possibly damaging 0.74
R6619:Smg6 UTSW 11 74,823,279 (GRCm39) critical splice donor site probably null
R6820:Smg6 UTSW 11 74,932,790 (GRCm39) missense probably damaging 0.99
R6923:Smg6 UTSW 11 74,820,169 (GRCm39) missense possibly damaging 0.50
R7361:Smg6 UTSW 11 74,820,979 (GRCm39) missense probably benign 0.00
R7494:Smg6 UTSW 11 74,820,449 (GRCm39) missense probably benign
R7498:Smg6 UTSW 11 74,819,932 (GRCm39) missense probably benign 0.01
R7681:Smg6 UTSW 11 74,822,531 (GRCm39) missense probably damaging 1.00
R7710:Smg6 UTSW 11 74,821,445 (GRCm39) missense probably benign 0.26
R7770:Smg6 UTSW 11 74,884,687 (GRCm39) missense unknown
R8159:Smg6 UTSW 11 74,929,465 (GRCm39) missense probably damaging 1.00
R8381:Smg6 UTSW 11 74,822,566 (GRCm39) missense probably damaging 1.00
R8463:Smg6 UTSW 11 74,820,886 (GRCm39) missense probably benign 0.14
R8509:Smg6 UTSW 11 74,932,702 (GRCm39) missense probably benign 0.04
R8743:Smg6 UTSW 11 74,820,859 (GRCm39) missense probably benign
R9240:Smg6 UTSW 11 74,825,884 (GRCm39) missense probably damaging 1.00
R9312:Smg6 UTSW 11 74,820,877 (GRCm39) missense probably benign 0.27
X0018:Smg6 UTSW 11 74,820,812 (GRCm39) missense possibly damaging 0.76
Z1186:Smg6 UTSW 11 75,047,092 (GRCm39) missense probably benign 0.06
Z1187:Smg6 UTSW 11 75,047,092 (GRCm39) missense probably benign 0.06
Z1188:Smg6 UTSW 11 75,047,092 (GRCm39) missense probably benign 0.06
Z1189:Smg6 UTSW 11 75,047,092 (GRCm39) missense probably benign 0.06
Z1190:Smg6 UTSW 11 75,047,092 (GRCm39) missense probably benign 0.06
Z1191:Smg6 UTSW 11 75,047,092 (GRCm39) missense probably benign 0.06
Z1192:Smg6 UTSW 11 75,047,092 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TAGCTCAGCCTGAAGGTCTG -3'
(R):5'- TACACATGCACAGCCAGGTC -3'

Sequencing Primer
(F):5'- TGAAGGTCTGTCCCTCAGG -3'
(R):5'- CATGTCTAGGGTTGCTCT -3'
Posted On 2021-01-18