|Institutional Source||Beutler Lab|
|Gene Name||coiled-coil domain containing 174|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0801 (G1)|
|Chromosomal Location||91878053-91899843 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 91895332 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Glycine at position 314 (E314G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049280 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037783] [ENSMUST00000136090]|
|AlphaFold||no structure available at present|
AA Change: E314G
PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: E314G
|Meta Mutation Damage Score||0.0610|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit embryonic lethality at E7. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ccdc174||
(F):5'- AGGCTTCTACTGTGCTCTGTGAGTT -3'
(R):5'- TGAGAGTGTCATTCTGAAACATTCCAGC -3'
(F):5'- cgccaccattgcctgtc -3'
(R):5'- tcacagagaaagcaaaaagcac -3'