Incidental Mutation 'R6220:Elovl3'
ID 503988
Institutional Source Beutler Lab
Gene Symbol Elovl3
Ensembl Gene ENSMUSG00000038754
Gene Name ELOVL fatty acid elongase 3
Synonyms CIN-2, Cig30, elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3
MMRRC Submission 044352-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R6220 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 46120336-46124133 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46122939 bp (GRCm39)
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

DomainStartEndE-ValueType
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

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

DomainStartEndE-ValueType
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
Abhd16b A G 2: 181,135,578 (GRCm39) D160G probably damaging Het
Acap1 A G 11: 69,780,505 (GRCm39) F15S probably damaging Het
Adam30 A T 3: 98,068,625 (GRCm39) S153C probably damaging Het
Afp A T 5: 90,652,269 (GRCm39) D420V possibly damaging Het
Ak9 T A 10: 41,246,095 (GRCm39) H729Q unknown Het
Armh3 T C 19: 45,834,554 (GRCm39) E618G possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bcr A G 10: 74,898,124 (GRCm39) T423A probably benign Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ctns T C 11: 73,083,954 (GRCm39) T23A probably benign Het
Ddx54 T A 5: 120,758,754 (GRCm39) N332K probably benign Het
Dysf T A 6: 84,126,727 (GRCm39) I1344N probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Filip1l T A 16: 57,390,352 (GRCm39) N313K probably benign Het
Foxp2 C A 6: 15,437,947 (GRCm39) T716K probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm10645 A G 8: 83,892,386 (GRCm39) probably benign Het
Gm10735 T C 13: 113,178,030 (GRCm39) probably benign Het
Gm4847 A T 1: 166,462,541 (GRCm39) D316E probably damaging Het
Gorasp2 T C 2: 70,521,134 (GRCm39) L388P probably damaging Het
Heatr5b A G 17: 79,081,106 (GRCm39) L1382P probably damaging Het
Herc1 A G 9: 66,341,070 (GRCm39) Y1729C probably damaging Het
Ifi207 A T 1: 173,557,112 (GRCm39) L542H probably damaging Het
Ighv3-5 T A 12: 114,226,338 (GRCm39) N96I probably damaging Het
Isl1 T C 13: 116,439,803 (GRCm39) T182A probably benign Het
Jph4 T C 14: 55,347,542 (GRCm39) E421G probably benign Het
Lrrc45 T C 11: 120,610,353 (GRCm39) I488T probably benign Het
Mroh8 A G 2: 157,075,083 (GRCm39) I471T probably benign Het
Ms4a2 A T 19: 11,594,927 (GRCm39) D96E probably damaging Het
Mst1r T A 9: 107,784,547 (GRCm39) N68K probably benign Het
Myo18b A G 5: 112,905,373 (GRCm39) M2075T possibly damaging Het
Neb T C 2: 52,160,984 (GRCm39) K2229R probably null Het
Nkx6-3 T A 8: 23,643,987 (GRCm39) probably null Het
Nlrp1a C A 11: 71,033,164 (GRCm39) S10I probably benign Het
Npas2 A T 1: 39,375,142 (GRCm39) T487S probably benign Het
Nrxn1 G C 17: 91,395,904 (GRCm39) T84R probably benign Het
Or4k2 C A 14: 50,424,135 (GRCm39) D180Y probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh18 A G 3: 49,699,700 (GRCm39) C921R probably damaging Het
Pcdha9 A G 18: 37,131,531 (GRCm39) Y200C probably damaging Het
Pknox1 A T 17: 31,822,177 (GRCm39) R315* probably null Het
Rasgrp1 C T 2: 117,115,410 (GRCm39) W726* probably null Het
Rassf8 G A 6: 145,762,859 (GRCm39) R402H probably damaging Het
Rev3l T A 10: 39,698,775 (GRCm39) Y1091N probably damaging Het
Riok3 T G 18: 12,282,608 (GRCm39) V349G probably damaging Het
Rps18 A T 17: 34,174,110 (GRCm39) V15E probably damaging Het
Rptor A T 11: 119,788,268 (GRCm39) Y1323F possibly damaging Het
Rspry1 T C 8: 95,385,378 (GRCm39) C437R probably damaging Het
Sema5a T A 15: 32,686,875 (GRCm39) Y996N probably damaging Het
Smarcad1 A G 6: 65,091,313 (GRCm39) I1011M probably benign Het
Supv3l1 A T 10: 62,274,800 (GRCm39) M295K possibly damaging Het
Sv2c T C 13: 96,113,134 (GRCm39) D605G probably damaging Het
Teddm1b G A 1: 153,750,947 (GRCm39) W252* probably null Het
Tes T A 6: 17,086,195 (GRCm39) C29* probably null Het
Thsd4 A G 9: 59,890,030 (GRCm39) W856R probably damaging Het
Treml4 A T 17: 48,571,876 (GRCm39) D93V possibly damaging Het
Trim66 T C 7: 109,082,300 (GRCm39) T218A probably damaging Het
Tssk5 T C 15: 76,257,973 (GRCm39) D128G probably damaging Het
Ubr3 T A 2: 69,850,819 (GRCm39) W1746R probably damaging Het
Vmn2r11 T C 5: 109,201,434 (GRCm39) I357V probably benign Het
Vmn2r87 A T 10: 130,315,807 (GRCm39) D86E probably benign Het
Zfp184 T G 13: 22,144,377 (GRCm39) H694Q probably damaging Het
Zranb3 A C 1: 127,927,141 (GRCm39) F341L probably benign Het
Other mutations in Elovl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02578:Elovl3 APN 19 46,123,132 (GRCm39) missense possibly damaging 0.54
R0016:Elovl3 UTSW 19 46,120,597 (GRCm39) missense probably damaging 0.97
R0016:Elovl3 UTSW 19 46,120,597 (GRCm39) missense probably damaging 0.97
R2040:Elovl3 UTSW 19 46,121,567 (GRCm39) missense probably benign 0.11
R2074:Elovl3 UTSW 19 46,120,606 (GRCm39) missense probably damaging 0.99
R2311:Elovl3 UTSW 19 46,121,639 (GRCm39) missense probably benign
R4866:Elovl3 UTSW 19 46,120,603 (GRCm39) missense possibly damaging 0.86
R5092:Elovl3 UTSW 19 46,122,961 (GRCm39) missense probably damaging 1.00
R5265:Elovl3 UTSW 19 46,123,120 (GRCm39) missense probably damaging 0.99
R5278:Elovl3 UTSW 19 46,122,540 (GRCm39) missense probably benign 0.00
R5375:Elovl3 UTSW 19 46,123,135 (GRCm39) missense probably benign 0.07
R7267:Elovl3 UTSW 19 46,122,979 (GRCm39) missense probably damaging 1.00
R7937:Elovl3 UTSW 19 46,123,168 (GRCm39) missense probably damaging 1.00
R9008:Elovl3 UTSW 19 46,123,087 (GRCm39) missense possibly damaging 0.70
R9319:Elovl3 UTSW 19 46,122,507 (GRCm39) missense possibly damaging 0.92
R9723:Elovl3 UTSW 19 46,123,155 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCGTGAGATTTCCAGATGTG -3'
(R):5'- ACCAGAAGAAGTGTTCCGTTG -3'

Sequencing Primer
(F):5'- CGTGAGATTTCCAGATGTGTTCACAC -3'
(R):5'- CCAGAAGAAGTGTTCCGTTGTTGTG -3'
Posted On 2018-02-27