Incidental Mutation 'R0016:Elovl3'
Institutional Source Beutler Lab
Gene Symbol Elovl3
Ensembl Gene ENSMUSG00000038754
Gene Nameelongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3
SynonymsCig30, CIN-2
MMRRC Submission 038311-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #R0016 (G1)
Quality Score
Status Validated
Chromosomal Location46131897-46135307 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 46132158 bp
Amino Acid Change Phenylalanine to Tyrosine at position 30 (F30Y)
Ref Sequence ENSEMBL: ENSMUSP00000036357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026259] [ENSMUST00000043739] [ENSMUST00000172971]
Predicted Effect probably benign
Transcript: ENSMUST00000026259
SMART Domains Protein: ENSMUSP00000026259
Gene: ENSMUSG00000025229

HOX 62 124 3.48e-26 SMART
low complexity region 157 174 N/A INTRINSIC
low complexity region 189 236 N/A INTRINSIC
low complexity region 240 252 N/A INTRINSIC
Pfam:OAR 258 276 3e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000043739
AA Change: F30Y

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036357
Gene: ENSMUSG00000038754
AA Change: F30Y

Pfam:ELO 30 267 2.9e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172971
SMART Domains Protein: ENSMUSP00000134563
Gene: ENSMUSG00000025229

Pfam:Homeobox 63 91 1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172980
Meta Mutation Damage Score 0.4092 question?
Coding Region Coverage
  • 1x: 81.7%
  • 3x: 74.6%
  • 10x: 53.6%
  • 20x: 32.4%
Validation Efficiency 93% (85/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutants have a sparse coat, hyperplastic pilosebaceous system, and abnormal hair lipid content with high levels of eicosenoic acid. Liver and brown adipose tissue functions are normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,294,800 V1181G probably benign Het
Adamts12 A T 15: 11,217,829 I291F probably damaging Het
Aspm G C 1: 139,479,544 Q2056H probably benign Het
BC067074 T C 13: 113,366,105 Y115H probably damaging Het
C7 A T 15: 5,046,924 V122E probably benign Het
Casp12 A T 9: 5,352,844 Q152L probably null Het
Cpne8 A G 15: 90,501,405 probably benign Het
Cyp2j7 T A 4: 96,202,147 I347F probably damaging Het
Dync2h1 A G 9: 7,144,346 probably benign Het
Echdc1 A T 10: 29,322,421 probably benign Het
Fam208b A C 13: 3,585,170 probably null Het
Fgd3 C T 13: 49,296,609 D55N probably benign Het
Fhod1 T C 8: 105,331,655 E823G possibly damaging Het
Gapvd1 A G 2: 34,699,913 probably benign Het
Helz2 C A 2: 181,232,759 G1981C probably damaging Het
Kif27 A G 13: 58,354,714 V50A probably damaging Het
Lrp2bp T A 8: 46,012,031 F62L probably damaging Het
Marf1 G A 16: 14,152,265 H197Y probably damaging Het
Mon2 C T 10: 123,035,546 V389M probably damaging Het
Myh8 A G 11: 67,298,525 K1176E probably damaging Het
Nckap1l A G 15: 103,475,636 T554A probably benign Het
Oog3 A G 4: 144,158,071 Y432H probably damaging Het
Sorbs1 A G 19: 40,314,738 probably benign Het
Srgap2 A G 1: 131,349,462 M349T possibly damaging Het
Stc2 A T 11: 31,360,177 D286E probably benign Het
Stk31 T C 6: 49,437,377 Y482H probably damaging Het
Sycp2l A G 13: 41,157,500 probably benign Het
Tcrg-V5 G A 13: 19,192,719 W112* probably null Het
Trim27 A T 13: 21,191,229 E310V probably benign Het
Uvrag T C 7: 98,991,981 K284R probably benign Het
Xylt2 A G 11: 94,669,640 S270P probably damaging Het
Zwint T C 10: 72,657,198 probably benign Het
Other mutations in Elovl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02578:Elovl3 APN 19 46134693 missense possibly damaging 0.54
R0016:Elovl3 UTSW 19 46132158 missense probably damaging 0.97
R2040:Elovl3 UTSW 19 46133128 missense probably benign 0.11
R2074:Elovl3 UTSW 19 46132167 missense probably damaging 0.99
R2311:Elovl3 UTSW 19 46133200 missense probably benign
R4866:Elovl3 UTSW 19 46132164 missense possibly damaging 0.86
R5092:Elovl3 UTSW 19 46134522 missense probably damaging 1.00
R5265:Elovl3 UTSW 19 46134681 missense probably damaging 0.99
R5278:Elovl3 UTSW 19 46134101 missense probably benign 0.00
R5375:Elovl3 UTSW 19 46134696 missense probably benign 0.07
R6220:Elovl3 UTSW 19 46134500 missense probably benign 0.32
R7267:Elovl3 UTSW 19 46134540 missense probably damaging 1.00
R7937:Elovl3 UTSW 19 46134729 missense probably damaging 1.00
Posted On2012-11-21