|Institutional Source||Beutler Lab|
|Gene Name||lysine acetyltransferase 14|
|Synonyms||D2Wsu131e, 2510008M08Rik, ATAC2, Csrp2bp, D2Ertd473e|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R9457 (G1)|
|Chromosomal Location||144368983-144407676 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 144373782 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 62 (D62E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028911 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028911] [ENSMUST00000147747] [ENSMUST00000183618]|
AA Change: D62E
PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
AA Change: D62E
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, decreased size, increased apoptosis, and disrupted cell cycling. Mice heterozygous for one targeted allele exhibit corneal opacity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kat14||
(F):5'- TGGATAGTAGCATCCACCTGAG -3'
(R):5'- ACTGCTAACAATGGGATAGTGG -3'
(F):5'- TGAGTGGGCTCCTCAGTC -3'
(R):5'- AAGAGCAGTCAGTTTCCTCG -3'