|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family A (ABC1), member 14|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0574 (G1)|
|Chromosomal Location||120203961-120325352 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 120224497 bp|
|Amino Acid Change||Isoleucine to Valine at position 416 (I416V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081690 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084640]|
|Predicted Effect||probably damaging
AA Change: I416V
PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: I416V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1192|
|Coding Region Coverage||
|Validation Efficiency||100% (34/34)|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abca14||
(F):5'- GAAAGTGTCTCCTTGCACTCTCAGTT -3'
(R):5'- GCATCTGTTGTCTGTTATTCCCCAGAA -3'
(F):5'- gtgatatagtggcaggcaaaag -3'
(R):5'- acgtatataaggtacacacacgg -3'
|Nature of Mutation|
Multiple transcripts of the Abca14 gene are displayed on Ensembl.
|Protein Function and Prediction|
The Abca14 gene encodes a 1683 amino acid protein that belongs to the ATP-binding cassette (ABC) transporter superfamily. These transporters use the hydrolysis of ATP to export or import a wide variety of substrates ranging from small ions to macromolecules. The members of the ABCA subfamily share a high degree of sequence conservation and function in lipid trafficking in several body locations. Abca14 has been cloned rat and mouse; no human orthologue has been described. The ABCA14 has two nucleotide-binding folds and two transmembrane domains. Abca14 is predominantly expressed in testis, indicating that it may function in testicular development or spermatogenesis.