|Institutional Source||Beutler Lab|
|Gene Name||AHNAK nucleoprotein (desmoyokin)|
|Synonyms||1110004P15Rik, 2310047C17Rik, DY6|
|Is this an essential gene?||Possibly non essential (E-score: 0.347)|
|Stock #||R6240 (G1)|
|Chromosomal Location||8989284-9076919 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 9013583 bp|
|Amino Acid Change||Aspartic acid to Valine at position 4077 (D4077V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000090633 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000092955] [ENSMUST00000092956]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: D4077V
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: D4077V
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit decreased T cell proliferation and increased susceptibility to parasitic infection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ahnak||
(F):5'- AAGGGCCCTAAGTTTAAAATGC -3'
(R):5'- TGAACTTGGGACCCTTCAGC -3'
(F):5'- GGGCCCTAAGTTTAAAATGCCTGATC -3'
(R):5'- GGTCCTTCAATGTTCACATCAGGAAC -3'