Incidental Mutation 'R4275:Smg6'
ID 324765
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 041646-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4275 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 74816665-75055274 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to C at 74884700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000045281] [ENSMUST00000140197]
AlphaFold P61406
Predicted Effect probably benign
Transcript: ENSMUST00000045281
SMART Domains Protein: ENSMUSP00000043555
Gene: ENSMUSG00000038290

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135522
Predicted Effect unknown
Transcript: ENSMUST00000140197
AA Change: I8L
SMART Domains Protein: ENSMUSP00000120060
Gene: ENSMUSG00000038290
AA Change: I8L

DomainStartEndE-ValueType
Pfam:EST1_DNA_bind 2 167 4.9e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189608
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (43/44)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1e T C 1: 154,369,071 (GRCm39) Y322C probably damaging Het
Camsap2 A G 1: 136,198,614 (GRCm39) V1462A probably benign Het
D3Ertd751e C A 3: 41,710,589 (GRCm39) probably benign Het
Dhcr7 C T 7: 143,396,964 (GRCm39) A152V probably damaging Het
Enpep A T 3: 129,125,927 (GRCm39) N68K probably benign Het
Fam131b G A 6: 42,298,241 (GRCm39) L43F probably damaging Het
Fbxl5 T A 5: 43,920,114 (GRCm39) probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Hycc2 T C 1: 58,569,092 (GRCm39) T440A probably benign Het
Igf2 T C 7: 142,209,523 (GRCm39) M46V probably benign Het
Kntc1 T A 5: 123,905,842 (GRCm39) Y367N probably damaging Het
Mapk8ip2 T C 15: 89,343,198 (GRCm39) W647R probably damaging Het
Mettl21c C T 1: 44,049,716 (GRCm39) V110I probably damaging Het
Mrgprh T C 17: 13,096,114 (GRCm39) L118P probably damaging Het
Myadm A G 7: 3,345,618 (GRCm39) T127A probably benign Het
Myh10 A T 11: 68,642,766 (GRCm39) probably null Het
Nadk T A 4: 155,668,712 (GRCm39) Y128N probably benign Het
Or5g27 T C 2: 85,410,207 (GRCm39) V208A probably benign Het
Or8k39 T C 2: 86,563,936 (GRCm39) T7A probably damaging Het
Papolg A G 11: 23,818,378 (GRCm39) I500T probably benign Het
Pkhd1 A T 1: 20,128,608 (GRCm39) C4032S probably benign Het
Rnase1 A T 14: 51,383,327 (GRCm39) L9Q probably damaging Het
Rspry1 G T 8: 95,376,389 (GRCm39) V304L probably benign Het
Sall2 C A 14: 52,551,260 (GRCm39) R643L probably damaging Het
Scpep1 T C 11: 88,837,968 (GRCm39) probably null Het
Serpina3m T A 12: 104,355,375 (GRCm39) I14N probably damaging Het
Suz12 T C 11: 79,920,879 (GRCm39) M593T probably damaging Het
Tmem139 A G 6: 42,241,039 (GRCm39) E208G probably damaging Het
Tnxb A G 17: 34,917,205 (GRCm39) Y2200C probably damaging Het
Usp19 T G 9: 108,375,893 (GRCm39) V911G probably damaging Het
Vipr1 T C 9: 121,493,684 (GRCm39) L245P probably damaging Het
Vmn2r105 T A 17: 20,448,902 (GRCm39) I92F probably damaging Het
Zbtb47 T A 9: 121,595,605 (GRCm39) V576D probably damaging Het
Zfp518b A G 5: 38,829,071 (GRCm39) V978A probably damaging 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
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
R8557:Smg6 UTSW 11 75,047,064 (GRCm39) missense probably damaging 0.98
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'- AGGCTGGTATTCATTAGACACAG -3'
(R):5'- GGGGATGCAAAGAGGTTTCC -3'

Sequencing Primer
(F):5'- GCATGTATGTTGAATGCAAGAAGTTG -3'
(R):5'- CTTGTCCTCGAGAAACTAGT -3'
Posted On 2015-06-24