|Institutional Source||Beutler Lab|
|Gene Name||aldehyde dehydrogenase 1 family, member L2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2290 (G1)|
|Chromosomal Location||83487450-83534140 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 83527313 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 62 (D62G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020497 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020497] [ENSMUST00000146640]|
|Predicted Effect||probably damaging
AA Change: D62G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D62G
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.4547|
|Coding Region Coverage||
|Validation Efficiency||100% (73/73)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aldh1l2||
(F):5'- TGAGTATATGCACATGCCCATG -3'
(R):5'- CTGTCCACAGCAATTGTTGTC -3'
(F):5'- TATGAACTAGGTCCTCAAGCTCAGG -3'
(R):5'- GTCCACAGCAATTGTTGTCACTATAC -3'