Incidental Mutation 'R6220:Elovl3'
ID 503988
Institutional Source Beutler Lab
Gene Symbol Elovl3
Ensembl Gene ENSMUSG00000038754
Gene Name elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3
Synonyms Cig30, CIN-2
MMRRC Submission 044352-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R6220 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 46131897-46135307 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46134500 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 172 (M172L)
Ref Sequence ENSEMBL: ENSMUSP00000036357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026259] [ENSMUST00000043739] [ENSMUST00000172971]
AlphaFold O35949
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 benign
Transcript: ENSMUST00000043739
AA Change: M172L

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036357
Gene: ENSMUSG00000038754
AA Change: M172L

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 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (65/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik T C 19: 45,846,115 (GRCm38) E618G possibly damaging Het
Abhd16b A G 2: 181,493,785 (GRCm38) D160G probably damaging Het
Acap1 A G 11: 69,889,679 (GRCm38) F15S probably damaging Het
Adam30 A T 3: 98,161,309 (GRCm38) S153C probably damaging Het
Afp A T 5: 90,504,410 (GRCm38) D420V possibly damaging Het
Ak9 T A 10: 41,370,099 (GRCm38) H729Q unknown Het
Arsi G A 18: 60,916,651 (GRCm38) G202E probably benign Het
Bcr A G 10: 75,062,292 (GRCm38) T423A probably benign Het
Cc2d1b C T 4: 108,633,225 (GRCm38) R825W probably damaging Het
Ctns T C 11: 73,193,128 (GRCm38) T23A probably benign Het
Ddx54 T A 5: 120,620,689 (GRCm38) N332K probably benign Het
Dysf T A 6: 84,149,745 (GRCm38) I1344N probably damaging Het
Fbxo6 A T 4: 148,149,522 (GRCm38) I39N probably damaging Het
Filip1l T A 16: 57,569,989 (GRCm38) N313K probably benign Het
Foxp2 C A 6: 15,437,948 (GRCm38) T716K probably damaging Het
Gm10549 C A 18: 33,464,305 (GRCm38) probably benign Het
Gm10645 A G 8: 83,165,757 (GRCm38) probably benign Het
Gm10735 T C 13: 113,041,496 (GRCm38) probably benign Het
Gm4847 A T 1: 166,634,972 (GRCm38) D316E probably damaging Het
Gorasp2 T C 2: 70,690,790 (GRCm38) L388P probably damaging Het
Heatr5b A G 17: 78,773,677 (GRCm38) L1382P probably damaging Het
Herc1 A G 9: 66,433,788 (GRCm38) Y1729C probably damaging Het
Ifi207 A T 1: 173,729,546 (GRCm38) L542H probably damaging Het
Ighv3-5 T A 12: 114,262,718 (GRCm38) N96I probably damaging Het
Isl1 T C 13: 116,303,267 (GRCm38) T182A probably benign Het
Jph4 T C 14: 55,110,085 (GRCm38) E421G probably benign Het
Lrrc45 T C 11: 120,719,527 (GRCm38) I488T probably benign Het
Mroh8 A G 2: 157,233,163 (GRCm38) I471T probably benign Het
Ms4a2 A T 19: 11,617,563 (GRCm38) D96E probably damaging Het
Mst1r T A 9: 107,907,348 (GRCm38) N68K probably benign Het
Myo18b A G 5: 112,757,507 (GRCm38) M2075T possibly damaging Het
Neb T C 2: 52,270,972 (GRCm38) K2229R probably null Het
Nkx6-3 T A 8: 23,153,971 (GRCm38) probably null Het
Nlrp1a C A 11: 71,142,338 (GRCm38) S10I probably benign Het
Npas2 A T 1: 39,336,061 (GRCm38) T487S probably benign Het
Nrxn1 G C 17: 91,088,476 (GRCm38) T84R probably benign Het
Olfr730 C A 14: 50,186,678 (GRCm38) D180Y probably damaging Het
Otx1 C A 11: 21,997,037 (GRCm38) A91S probably damaging Het
Pcdh18 A G 3: 49,745,251 (GRCm38) C921R probably damaging Het
Pcdha9 A G 18: 36,998,478 (GRCm38) Y200C probably damaging Het
Pknox1 A T 17: 31,603,203 (GRCm38) R315* probably null Het
Rasgrp1 C T 2: 117,284,929 (GRCm38) W726* probably null Het
Rassf8 G A 6: 145,817,133 (GRCm38) R402H probably damaging Het
Rev3l T A 10: 39,822,779 (GRCm38) Y1091N probably damaging Het
Riok3 T G 18: 12,149,551 (GRCm38) V349G probably damaging Het
Rps18 A T 17: 33,955,136 (GRCm38) V15E probably damaging Het
Rptor A T 11: 119,897,442 (GRCm38) Y1323F possibly damaging Het
Rspry1 T C 8: 94,658,750 (GRCm38) C437R probably damaging Het
Sema5a T A 15: 32,686,729 (GRCm38) Y996N probably damaging Het
Smarcad1 A G 6: 65,114,329 (GRCm38) I1011M probably benign Het
Supv3l1 A T 10: 62,439,021 (GRCm38) M295K possibly damaging Het
Sv2c T C 13: 95,976,626 (GRCm38) D605G probably damaging Het
Teddm1b G A 1: 153,875,201 (GRCm38) W252* probably null Het
Tes T A 6: 17,086,196 (GRCm38) C29* probably null Het
Thsd4 A G 9: 59,982,747 (GRCm38) W856R probably damaging Het
Treml4 A T 17: 48,264,848 (GRCm38) D93V possibly damaging Het
Trim66 T C 7: 109,483,093 (GRCm38) T218A probably damaging Het
Tssk5 T C 15: 76,373,773 (GRCm38) D128G probably damaging Het
Ubr3 T A 2: 70,020,475 (GRCm38) W1746R probably damaging Het
Vmn2r11 T C 5: 109,053,568 (GRCm38) I357V probably benign Het
Vmn2r87 A T 10: 130,479,938 (GRCm38) D86E probably benign Het
Zfp184 T G 13: 21,960,207 (GRCm38) H694Q probably damaging Het
Zranb3 A C 1: 127,999,404 (GRCm38) F341L probably benign Het
Other mutations in Elovl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02578:Elovl3 APN 19 46,134,693 (GRCm38) missense possibly damaging 0.54
R0016:Elovl3 UTSW 19 46,132,158 (GRCm38) missense probably damaging 0.97
R0016:Elovl3 UTSW 19 46,132,158 (GRCm38) missense probably damaging 0.97
R2040:Elovl3 UTSW 19 46,133,128 (GRCm38) missense probably benign 0.11
R2074:Elovl3 UTSW 19 46,132,167 (GRCm38) missense probably damaging 0.99
R2311:Elovl3 UTSW 19 46,133,200 (GRCm38) missense probably benign
R4866:Elovl3 UTSW 19 46,132,164 (GRCm38) missense possibly damaging 0.86
R5092:Elovl3 UTSW 19 46,134,522 (GRCm38) missense probably damaging 1.00
R5265:Elovl3 UTSW 19 46,134,681 (GRCm38) missense probably damaging 0.99
R5278:Elovl3 UTSW 19 46,134,101 (GRCm38) missense probably benign 0.00
R5375:Elovl3 UTSW 19 46,134,696 (GRCm38) missense probably benign 0.07
R7267:Elovl3 UTSW 19 46,134,540 (GRCm38) missense probably damaging 1.00
R7937:Elovl3 UTSW 19 46,134,729 (GRCm38) missense probably damaging 1.00
R9008:Elovl3 UTSW 19 46,134,648 (GRCm38) missense possibly damaging 0.70
R9319:Elovl3 UTSW 19 46,134,068 (GRCm38) missense possibly damaging 0.92
R9723:Elovl3 UTSW 19 46,134,716 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-02-27