|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 #||R5929 (G1)|
|Chromosomal Location||36111965-36119844 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 36117877 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 137 (E137G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025718 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025718]|
|Predicted Effect||possibly damaging
AA Change: E137G
PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: E137G
|Meta Mutation Damage Score||0.1905|
|Coding Region Coverage||
|Validation Efficiency||99% (84/85)|
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'- GCCTCATGCAATCCATCATGC -3'
(R):5'- GACGGCAGCAAAACTCATGG -3'
(F):5'- GAGGGGAACAATAATCTCTCTCTCTC -3'
(R):5'- GCAAAACTCATGGCCACTTTCG -3'