|Institutional Source||Beutler Lab|
|Gene Name||castor zinc finger 1|
|Synonyms||D4Ertd432e, 2410019P08Rik, Cst, castor|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6139 (G1)|
|Chromosomal Location||148804429-148954889 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 148951697 bp|
|Amino Acid Change||Threonine to Methionine at position 1472 (T1472M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000112978 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000122222]|
|Predicted Effect||probably damaging
AA Change: T1472M
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: T1472M
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete lethality throughout fetal growth and development and abnormal heart development associated with edema, decreased fetal cardiomyocyte proliferation, myocardium hypoplasia, ventricular septal defect, and altered heart shape and Z line formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Casz1||
(F):5'- CTAGGGAACACCATCTCCATGC -3'
(R):5'- TGCTGTCTGTGCAACGGAAG -3'
(F):5'- TGGATCATCGAGGACATGTCTCC -3'
(R):5'- TGCAACGGAAGCGGCAG -3'