|Institutional Source||Beutler Lab|
|Gene Name||fatty acid 2-hydroxylase|
|Is this an essential gene?||Possibly non essential (E-score: 0.412)|
|Stock #||R0016 (G1)|
|Chromosomal Location||111345135-111393824 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 111393514 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 80 (Y80C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043597 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038475]|
|Predicted Effect||probably damaging
AA Change: Y80C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y80C
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.7485|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a null allele show demyelination, axonal loss, and cerebellar dysfunction. Homozygotes for a different null allele show late onset axon and myelin sheath degeneration, delayed fur emergence, altered sebum composition, sebocyte hyperproliferation, and cyclic alopecia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fa2h||
(F):5'- TGGAGGCTGTCACCTTGCGTTC -3'
(R):5'- CCTTCAATGCGCTGGCATCCAC -3'
(F):5'- TCTCCTAGAGGGCAGGTG -3'
(R):5'- GCTCCCGAGATGTTAGAGG -3'