Incidental Mutation 'R8530:Fa2h'
ID 658999
Institutional Source Beutler Lab
Gene Symbol Fa2h
Ensembl Gene ENSMUSG00000033579
Gene Name fatty acid 2-hydroxylase
Synonyms G630055L08Rik, Faxdc1
MMRRC Submission 068500-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.331) question?
Stock # R8530 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 112071770-112120453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112082788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 143 (E143G)
Ref Sequence ENSEMBL: ENSMUSP00000043597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038475]
AlphaFold Q5MPP0
Predicted Effect probably benign
Transcript: ENSMUST00000038475
AA Change: E143G

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000043597
Gene: ENSMUSG00000033579
AA Change: E143G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G C 3: 137,774,586 (GRCm39) E1258D probably damaging Het
4930407I10Rik T A 15: 81,949,587 (GRCm39) H1161Q probably damaging Het
Adam20 A G 8: 41,249,071 (GRCm39) S394G probably damaging Het
Akr1c12 A T 13: 4,320,160 (GRCm39) F310Y probably benign Het
Ank G A 15: 27,544,490 (GRCm39) A84T probably benign Het
Bcas1 A T 2: 170,229,868 (GRCm39) I244K probably damaging Het
Cacna1a T C 8: 85,339,043 (GRCm39) probably null Het
Car14 T C 3: 95,807,670 (GRCm39) H79R probably benign Het
Cd163 T C 6: 124,295,860 (GRCm39) Y735H probably damaging Het
Cdh11 G A 8: 103,391,387 (GRCm39) P283L probably benign Het
Cfi C T 3: 129,644,382 (GRCm39) T126I possibly damaging Het
Col6a4 T A 9: 105,957,704 (GRCm39) H40L probably benign Het
Dbh A G 2: 27,058,318 (GRCm39) D162G probably damaging Het
Dnah14 A G 1: 181,492,511 (GRCm39) K1657R probably damaging Het
E2f7 T A 10: 110,614,859 (GRCm39) V521D probably benign Het
Eif3g A C 9: 20,809,026 (GRCm39) S93A possibly damaging Het
Foxc1 C A 13: 31,991,771 (GRCm39) P194Q probably benign Het
Fyco1 A G 9: 123,669,605 (GRCm39) probably null Het
Gabrb3 T C 7: 57,461,819 (GRCm39) S256P probably damaging Het
Gcc1 C A 6: 28,420,730 (GRCm39) D196Y probably damaging Het
Herc1 T A 9: 66,325,910 (GRCm39) D1461E probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hps6 A T 19: 45,991,959 (GRCm39) probably benign Het
Macc1 A T 12: 119,409,474 (GRCm39) I81F probably damaging Het
Man2c1 G T 9: 57,038,922 (GRCm39) D111Y probably damaging Het
Mast3 A T 8: 71,240,877 (GRCm39) I240N possibly damaging Het
Matn1 A T 4: 130,677,447 (GRCm39) K219* probably null Het
Nup210 C G 6: 91,053,627 (GRCm39) A297P possibly damaging Het
Or5d43 A T 2: 88,105,154 (GRCm39) L80I probably damaging Het
Or6d12 T A 6: 116,493,530 (GRCm39) I264K probably damaging Het
Pcare T C 17: 72,059,101 (GRCm39) Y192C probably damaging Het
Pcnt G A 10: 76,256,039 (GRCm39) R734W probably damaging Het
Phactr3 A G 2: 177,925,819 (GRCm39) N360D probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Potefam3a T C 8: 20,356,984 (GRCm38) N242S probably benign Het
Qtrt2 C A 16: 43,689,407 (GRCm39) G197V probably damaging Het
Rabep1 A T 11: 70,810,068 (GRCm39) L500F probably damaging Het
Rhof T A 5: 123,257,581 (GRCm39) D183V probably damaging Het
Shprh T C 10: 11,027,678 (GRCm39) V95A probably benign Het
Spata31d1b A T 13: 59,864,964 (GRCm39) N704I unknown Het
Tas1r2 A T 4: 139,389,460 (GRCm39) Y452F probably benign Het
Tc2n A T 12: 101,617,444 (GRCm39) F325Y possibly damaging Het
Tiam2 G T 17: 3,501,087 (GRCm39) V909L probably benign Het
Tlx1 A T 19: 45,139,524 (GRCm39) Y57F probably benign Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Vmn2r58 A T 7: 41,513,576 (GRCm39) W356R probably damaging Het
Wars1 G A 12: 108,848,818 (GRCm39) A43V probably damaging Het
Wrn A T 8: 33,770,852 (GRCm39) I694N possibly damaging Het
Zfp120 A G 2: 149,959,168 (GRCm39) Y385H 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
IGL03350:Fa2h APN 8 112,075,928 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- TATGGATCTAGCCTGTCACACC -3'
(R):5'- GTTTCCTCTCCGAAAGCCAC -3'

Sequencing Primer
(F):5'- TCCCCAGTAATTTACAGAGTATCC -3'
(R):5'- TCCGAAAGCCACCACTGGG -3'
Posted On 2021-01-18