Incidental Mutation 'R0016:Fa2h'
ID 44070
Institutional Source Beutler Lab
Gene Symbol Fa2h
Ensembl Gene ENSMUSG00000033579
Gene Name fatty acid 2-hydroxylase
Synonyms G630055L08Rik, Faxdc1
MMRRC Submission 038311-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.331) question?
Stock # R0016 (G1)
Quality Score 43
Status Validated (trace)
Chromosome 8
Chromosomal Location 112071770-112120453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112120146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 80 (Y80C)
Ref Sequence ENSEMBL: ENSMUSP00000043597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038475]
AlphaFold Q5MPP0
Predicted Effect probably damaging
Transcript: ENSMUST00000038475
AA Change: Y80C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043597
Gene: ENSMUSG00000033579
AA Change: Y80C

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: ENSMUST00000162463
Meta Mutation Damage Score 0.7485 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.2%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,333,959 (GRCm39) V1181G probably benign Het
Adamts12 A T 15: 11,217,915 (GRCm39) I291F probably damaging Het
Aspm G C 1: 139,407,282 (GRCm39) Q2056H probably benign Het
C7 A T 15: 5,076,406 (GRCm39) V122E probably benign Het
Casp12 A T 9: 5,352,844 (GRCm39) Q152L probably null Het
Cdh16 T A 8: 105,344,264 (GRCm39) T92S probably benign Het
Chrd G C 16: 20,553,058 (GRCm39) V162L possibly damaging Het
Cpne8 A G 15: 90,385,608 (GRCm39) probably benign Het
Cspg4b T C 13: 113,502,639 (GRCm39) Y115H probably damaging Het
Cyp2j7 T A 4: 96,090,384 (GRCm39) I347F probably damaging Het
Cyp4a10 A T 4: 115,378,304 (GRCm39) Q130L probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Dgkd T C 1: 87,845,674 (GRCm39) S294P probably benign Het
Dnah8 A G 17: 30,882,290 (GRCm39) I621V probably benign Het
Dync2h1 A G 9: 7,144,346 (GRCm39) probably benign Het
Echdc1 A T 10: 29,198,417 (GRCm39) probably benign Het
Elovl3 T A 19: 46,120,597 (GRCm39) F30Y probably damaging Het
Fgd3 C T 13: 49,450,085 (GRCm39) D55N probably benign Het
Fhod1 T C 8: 106,058,287 (GRCm39) E823G possibly damaging Het
Gapvd1 A G 2: 34,589,925 (GRCm39) probably benign Het
Gm17067 A T 7: 42,358,046 (GRCm39) I152K probably benign Het
Gvin3 G A 7: 106,202,453 (GRCm39) L264F probably benign Het
Kif27 A G 13: 58,502,528 (GRCm39) V50A probably damaging Het
Kpna2 T C 11: 106,881,912 (GRCm39) T305A probably benign Het
Krtap22-2 A G 16: 88,807,407 (GRCm39) probably benign Het
Lrp2bp T A 8: 46,465,068 (GRCm39) F62L probably damaging Het
Marf1 G A 16: 13,970,129 (GRCm39) H197Y probably damaging Het
Mob3b A G 4: 35,083,947 (GRCm39) F81L probably benign Het
Mon2 C T 10: 122,871,451 (GRCm39) V389M probably damaging Het
Myef2l A T 3: 10,154,379 (GRCm39) M383L possibly damaging Het
Myh8 A G 11: 67,189,351 (GRCm39) K1176E probably damaging Het
Naf1 T C 8: 67,341,707 (GRCm39) probably benign Het
Nckap1l A G 15: 103,384,063 (GRCm39) T554A probably benign Het
Oog3 A G 4: 143,884,641 (GRCm39) Y432H probably damaging Het
Paxbp1 A T 16: 90,832,924 (GRCm39) probably benign Het
Phf20 A T 2: 156,109,114 (GRCm39) K154* probably null Het
Pip4p1 C T 14: 51,166,351 (GRCm39) R213Q probably damaging Het
Plekhj1 T C 10: 80,632,250 (GRCm39) D74G possibly damaging Het
Plpp4 T C 7: 128,925,148 (GRCm39) C128R probably damaging Het
Rcan3 A T 4: 135,145,689 (GRCm39) probably null Het
Sh3rf1 T A 8: 61,827,172 (GRCm39) M642K probably benign Het
Slc7a1 A G 5: 148,271,393 (GRCm39) V522A probably benign Het
Sorbs1 A G 19: 40,303,182 (GRCm39) probably benign Het
Spry2 C T 14: 106,130,731 (GRCm39) V152M probably benign Het
Srgap2 A G 1: 131,277,200 (GRCm39) M349T possibly damaging Het
Stag3 A G 5: 138,289,643 (GRCm39) H271R possibly damaging Het
Stat4 T C 1: 52,107,939 (GRCm39) V136A probably benign Het
Stc2 A T 11: 31,310,177 (GRCm39) D286E probably benign Het
Stk31 T C 6: 49,414,311 (GRCm39) Y482H probably damaging Het
Tasor2 A C 13: 3,635,170 (GRCm39) probably null Het
Ticrr C T 7: 79,343,540 (GRCm39) P1135L probably benign Het
Trim27 A T 13: 21,375,399 (GRCm39) E310V probably benign Het
Uvrag T C 7: 98,641,188 (GRCm39) K284R probably benign Het
Vmn1r78 A C 7: 11,887,279 (GRCm39) S297R probably benign Het
Xylt2 A G 11: 94,560,466 (GRCm39) S270P probably damaging Het
Zfhx3 T C 8: 109,676,810 (GRCm39) M2620T probably benign Het
Zkscan2 C A 7: 123,099,219 (GRCm39) probably benign Het
Zwint T C 10: 72,493,030 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- TGGAGGCTGTCACCTTGCGTTC -3'
(R):5'- CCTTCAATGCGCTGGCATCCAC -3'

Sequencing Primer
(F):5'- TCTCCTAGAGGGCAGGTG -3'
(R):5'- GCTCCCGAGATGTTAGAGG -3'
Posted On 2013-06-03