|Institutional Source||Beutler Lab|
|Gene Name||zinc finger protein 365|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7043 (G1)|
|Chromosomal Location||67886103-67912662 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 67909826 bp|
|Amino Acid Change||Serine to Proline at position 41 (S41P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000067197 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000064656]|
|Predicted Effect||probably damaging
AA Change: S41P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S41P
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes several isoforms which have different expression patterns and functions. Mutation in this gene is associated with uric acid nephrolithiasis (UAN). Alternatively spliced variants, encoding distinct proteins, have been identified. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal cortical basket cells in the somatosensory cortices, delayed myelination in the corpus callosum during the early postnatal period, and an increase in immature oligodendrocytes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Zfp365||
(F):5'- CTCAAAGGGTTTCGTGTCCTTG -3'
(R):5'- TGACAGACCTGTAAACTGGGG -3'
(F):5'- GCTGTACAAGTTAACATAGCTCGAC -3'
(R):5'- ACAGACCTGTAAACTGGGGTCTTC -3'