|Institutional Source||Beutler Lab|
|Gene Name||Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6619 (G1)|
|Chromosomal Location||74925823-75164448 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 74932453 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000043555 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045281]|
|Predicted Effect||probably null
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.59|
|Coding Region Coverage||
|Validation Efficiency||100% (37/37)|
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|
|Other mutations in this stock||
|Other mutations in Smg6||
(F):5'- AAGGGTTGTTTGGCCAAGG -3'
(R):5'- TGTCCTGCTTATGACTATTAGTTGT -3'
(F):5'- AAGGGTTGTTTGGCCAAGGATTTG -3'
(R):5'- AGAGGCCCTGAGTTCAATTC -3'