Incidental Mutation 'IGL03350:Fa2h'
ID 419671
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fa2h
Ensembl Gene ENSMUSG00000033579
Gene Name fatty acid 2-hydroxylase
Synonyms G630055L08Rik, Faxdc1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.331) question?
Stock # IGL03350
Quality Score
Status
Chromosome 8
Chromosomal Location 112071770-112120453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 112075928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 232 (V232I)
Ref Sequence ENSEMBL: ENSMUSP00000043597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038475]
AlphaFold Q5MPP0
Predicted Effect probably benign
Transcript: ENSMUST00000038475
AA Change: V232I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000043597
Gene: ENSMUSG00000033579
AA Change: V232I

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
Cyt-b5 11 86 2.85e-15 SMART
low complexity region 115 126 N/A INTRINSIC
transmembrane domain 169 191 N/A INTRINSIC
Pfam:FA_hydroxylase 219 361 4.4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162463
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,022,589 (GRCm39) Y300* probably null Het
Adgre1 T A 17: 57,708,908 (GRCm39) V33E probably benign Het
AI987944 A G 7: 41,042,661 (GRCm39) probably benign Het
Atp4a T C 7: 30,420,292 (GRCm39) L813P probably damaging Het
Blmh A G 11: 76,862,774 (GRCm39) N396D probably damaging Het
Brat1 T C 5: 140,691,750 (GRCm39) L9P probably damaging Het
Ccdc171 T C 4: 83,599,615 (GRCm39) I810T possibly damaging Het
Clec2m C A 6: 129,307,986 (GRCm39) V28L probably benign Het
Cyp2a22 T C 7: 26,634,279 (GRCm39) T292A possibly damaging Het
Ecm2 C T 13: 49,674,420 (GRCm39) T280I probably benign Het
Fbxw24 T C 9: 109,436,081 (GRCm39) D317G probably damaging Het
Flt4 C A 11: 49,525,620 (GRCm39) S722* probably null Het
Fryl T C 5: 73,290,649 (GRCm39) Q85R probably damaging Het
Gm3239 A G 14: 15,882,083 (GRCm39) R188G possibly damaging Het
Hspa13 A T 16: 75,554,717 (GRCm39) S456R probably damaging Het
Htr1b T C 9: 81,514,175 (GRCm39) Y144C probably damaging Het
Hydin A G 8: 111,038,856 (GRCm39) H198R possibly damaging Het
Krt78 A T 15: 101,854,952 (GRCm39) M953K probably benign Het
Lgr5 G T 10: 115,307,893 (GRCm39) T255K probably damaging Het
Lrp2 T A 2: 69,268,797 (GRCm39) D4162V probably damaging Het
Map3k2 A G 18: 32,345,201 (GRCm39) D342G probably damaging Het
Miip A G 4: 147,946,979 (GRCm39) V258A probably benign Het
Muc6 T C 7: 141,238,324 (GRCm39) H52R probably damaging Het
Nfs1 T C 2: 155,969,660 (GRCm39) E329G probably benign Het
Npsr1 T C 9: 24,009,605 (GRCm39) V37A probably benign Het
Or1ak2 T C 2: 36,827,595 (GRCm39) Y155H probably damaging Het
Or1e17 A T 11: 73,831,664 (GRCm39) L197F probably damaging Het
Or5aq1b A C 2: 86,901,904 (GRCm39) D191E probably damaging Het
Pex16 T A 2: 92,207,842 (GRCm39) M98K probably damaging Het
Pla2r1 C T 2: 60,285,517 (GRCm39) C699Y probably damaging Het
Plcd4 A T 1: 74,588,460 (GRCm39) D103V probably damaging Het
Pnpla1 A G 17: 29,095,966 (GRCm39) D129G probably damaging Het
Rad23a T C 8: 85,564,108 (GRCm39) E265G possibly damaging Het
Rbm11 C T 16: 75,397,696 (GRCm39) P209S probably benign Het
Ribc2 T A 15: 85,019,703 (GRCm39) W162R probably damaging Het
Rnf4 A G 5: 34,504,204 (GRCm39) E32G possibly damaging Het
Rpe65 A T 3: 159,320,154 (GRCm39) S269C possibly damaging Het
Slc7a14 T A 3: 31,291,558 (GRCm39) Y240F probably benign Het
Sorbs2 C T 8: 46,258,844 (GRCm39) P1047L probably damaging Het
Ttn T C 2: 76,580,166 (GRCm39) I23576V probably damaging Het
Usp24 T G 4: 106,228,276 (GRCm39) Y780* probably null Het
Wee2 T C 6: 40,426,665 (GRCm39) S145P probably damaging Het
Zcchc7 A G 4: 44,931,188 (GRCm39) T126A probably benign Het
Zpld1 A G 16: 55,061,692 (GRCm39) probably benign Het
Zup1 G A 10: 33,804,107 (GRCm39) R456C probably benign Het
Other mutations in Fa2h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01930:Fa2h APN 8 112,075,936 (GRCm39) missense possibly damaging 0.55
IGL02983:Fa2h APN 8 112,073,154 (GRCm39) critical splice acceptor site probably null
sparse UTSW 8 112,082,030 (GRCm39) critical splice donor site probably null
R0016:Fa2h UTSW 8 112,120,146 (GRCm39) missense probably damaging 1.00
R0363:Fa2h UTSW 8 112,075,921 (GRCm39) missense probably damaging 1.00
R0576:Fa2h UTSW 8 112,082,779 (GRCm39) missense probably damaging 1.00
R2914:Fa2h UTSW 8 112,120,281 (GRCm39) missense probably damaging 1.00
R3803:Fa2h UTSW 8 112,082,030 (GRCm39) critical splice donor site probably null
R3924:Fa2h UTSW 8 112,120,147 (GRCm39) missense probably damaging 1.00
R5203:Fa2h UTSW 8 112,075,996 (GRCm39) missense probably benign 0.00
R5253:Fa2h UTSW 8 112,075,869 (GRCm39) missense probably benign 0.00
R6547:Fa2h UTSW 8 112,074,652 (GRCm39) missense probably damaging 1.00
R7595:Fa2h UTSW 8 112,082,122 (GRCm39) missense probably benign 0.01
R8050:Fa2h UTSW 8 112,074,817 (GRCm39) critical splice acceptor site probably null
R8530:Fa2h UTSW 8 112,082,788 (GRCm39) missense probably benign 0.12
R9329:Fa2h UTSW 8 112,082,115 (GRCm39) missense possibly damaging 0.49
R9366:Fa2h UTSW 8 112,076,006 (GRCm39) missense probably benign 0.01
R9697:Fa2h UTSW 8 112,074,659 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02