|Institutional Source||Beutler Lab|
|Gene Name||armadillo repeat containing 4|
|Synonyms||b2b643Clo, 4930463I21Rik, b2b227.1Clo|
|Is this an essential gene?||Possibly essential (E-score: 0.589)|
|Stock #||R4923 (G1)|
|Chromosomal Location||7088233-7297901 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 7181787 bp|
|Amino Acid Change||Aspartic acid to Histidine at position 846 (D846H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080028 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081275]|
|Predicted Effect||probably damaging
AA Change: D846H
PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: D846H
|Meta Mutation Damage Score||0.038|
|Coding Region Coverage||
|Validation Efficiency||98% (107/109)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit situs inversus totalis or heterotaxia with congenital heart disease including double outlet right ventricle and ventricular septal defects. Dyskinetic, slow, or immotile airway cilia are also observed. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Armc4||
(F):5'- CAAGACTACTTTGCCGTTACTTTTG -3'
(R):5'- ACCCCAGCAGAATGTCTAGG -3'
(F):5'- GCCGTTACTTTTGTCTAGTTTCATG -3'
(R):5'- GTCTAGGCCCAAACTAGAATTGTGTG -3'