|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 #||PIT4802001 (G1)|
|Chromosomal Location||74925823-75164448 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 75156165 bp|
|Amino Acid Change||Valine to Aspartic acid at position 1228 (V1228D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043555 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045281]|
|Predicted Effect||probably damaging
AA Change: V1228D
PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: V1228D
|Predicted Effect||probably benign
|Coding Region Coverage||
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'- TTAGTGAGACTTCAGGCCTGG -3'
(R):5'- CATGTCTAGGGTTGCTCTGTCC -3'
(F):5'- GCCTGGGCCATTTGGTC -3'
(R):5'- GGGTTGCTCTGTCCTCCCG -3'