|Institutional Source||Beutler Lab|
|Gene Name||ankyrin repeat domain 1 (cardiac muscle)|
|Synonyms||MARP1, CARP, Alrp, Crap|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0143 (G1)|
|Chromosomal Location||36111965-36119844 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 36119313 bp|
|Amino Acid Change||Alanine to Valine at position 38 (A38V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025718 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025718]|
|Predicted Effect||probably benign
AA Change: A38V
PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: A38V
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||97% (76/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile, and show no apparent cardiac phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ankrd1||
(F):5'- CATGCGCTTCATATCTGGTGAAAAGAC -3'
(R):5'- ACTTCCTAAGAGAAGGTGGTTGAGTGG -3'
(F):5'- AGAGCAGTTTTTATTTGTTTTCCTCC -3'
(R):5'- ACCTGGGATACCTGGAGCTATG -3'