Incidental Mutation 'R9319:Elovl3'
ID 706060
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R9319 (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 G at 46122507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 102 (T102A)
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 possibly damaging
Transcript: ENSMUST00000043739
AA Change: T102A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036357
Gene: ENSMUSG00000038754
AA Change: T102A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (48/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,922,446 (GRCm39) D811G probably damaging Het
Akap13 A G 7: 75,258,836 (GRCm39) T487A probably benign Het
Ankrd6 C T 4: 32,806,324 (GRCm39) S643N probably benign Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Camk2b G T 11: 5,927,814 (GRCm39) P489Q probably benign Het
Cd22 T A 7: 30,569,329 (GRCm39) N596Y probably damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cobl A T 11: 12,203,648 (GRCm39) V1018E probably benign Het
Cttn T C 7: 144,017,100 (GRCm39) E34G probably damaging Het
Dhx15 G A 5: 52,342,193 (GRCm39) R42* probably null Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Dlst G T 12: 85,170,585 (GRCm39) R238L probably damaging Het
Dnah7c A G 1: 46,521,168 (GRCm39) E232G possibly damaging Het
Dsg1b C T 18: 20,531,004 (GRCm39) Q452* probably null Het
Epas1 A G 17: 87,104,545 (GRCm39) S10G possibly damaging Het
Fads2b G A 2: 85,320,757 (GRCm39) R349C probably damaging Het
Fanca T C 8: 124,018,190 (GRCm39) I613V probably benign Het
Fat1 T A 8: 45,406,060 (GRCm39) V937D probably damaging Het
Glipr1l1 G T 10: 111,898,122 (GRCm39) A76S probably damaging Het
Ino80 T C 2: 119,205,005 (GRCm39) D1507G probably benign Het
Ipo13 T C 4: 117,769,585 (GRCm39) D69G probably benign Het
Kif2c T C 4: 117,035,445 (GRCm39) probably null Het
Lrrc61 C A 6: 48,545,228 (GRCm39) T17K probably damaging Het
Ltk C A 2: 119,590,096 (GRCm39) E43D probably benign Het
Mcm3ap A G 10: 76,318,638 (GRCm39) T720A probably damaging Het
Mcoln2 T A 3: 145,875,691 (GRCm39) V81D probably damaging Het
Mturn T A 6: 54,658,780 (GRCm39) V9D probably benign Het
Nrg1 T C 8: 32,323,204 (GRCm39) D249G probably benign Het
Ntng2 T C 2: 29,091,121 (GRCm39) probably benign Het
Odad3 T C 9: 21,906,203 (GRCm39) D245G probably damaging Het
Pax3 T A 1: 78,080,079 (GRCm39) M436L probably benign Het
Pias4 G A 10: 80,991,750 (GRCm39) P53S unknown Het
Pkhd1l1 C T 15: 44,392,974 (GRCm39) R1770C possibly damaging Het
Plk1 C A 7: 121,768,122 (GRCm39) D447E probably damaging Het
Rsph10b A C 5: 143,903,337 (GRCm39) M611L probably benign Het
Scart1 C T 7: 139,807,940 (GRCm39) P704S possibly damaging Het
Snrnp40 T C 4: 130,256,545 (GRCm39) L90P possibly damaging Het
Snu13 T C 15: 81,928,218 (GRCm39) T2A probably benign Het
Sptlc3 C T 2: 139,478,730 (GRCm39) A563V possibly damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tmx3 A G 18: 90,558,068 (GRCm39) I373M probably benign Het
Tpbg C T 9: 85,725,991 (GRCm39) probably benign Het
Troap T C 15: 98,975,444 (GRCm39) I176T probably benign Het
Trpm2 G A 10: 77,778,776 (GRCm39) Q397* probably null Het
Trpm2 A T 10: 77,785,032 (GRCm39) V196E probably damaging Het
Vac14 T A 8: 111,361,018 (GRCm39) I196N probably damaging Het
Vmn2r71 C T 7: 85,273,694 (GRCm39) P836L probably damaging 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
R6220:Elovl3 UTSW 19 46,122,939 (GRCm39) missense probably benign 0.32
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
R9723:Elovl3 UTSW 19 46,123,155 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGATCTACCAGATTGGCCCCG -3'
(R):5'- TCACTAAGACCCAGGAGTAGGG -3'

Sequencing Primer
(F):5'- ACACTCCCCTCGGAAGG -3'
(R):5'- GCCGGGACTCTCCATGTGATG -3'
Posted On 2022-03-25