Incidental Mutation 'R1894:Elovl1'
ID 211782
Institutional Source Beutler Lab
Gene Symbol Elovl1
Ensembl Gene ENSMUSG00000006390
Gene Name ELOVL fatty acid elongase 1
Synonyms Ssc1, elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1
MMRRC Submission 039914-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1894 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 118285290-118290150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118287945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 27 (S27F)
Ref Sequence ENSEMBL: ENSMUSP00000126685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006557] [ENSMUST00000006565] [ENSMUST00000067896] [ENSMUST00000102673] [ENSMUST00000167636]
AlphaFold Q9JLJ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000006557
AA Change: S27F

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000006557
Gene: ENSMUSG00000006390
AA Change: S27F

DomainStartEndE-ValueType
Pfam:ELO 23 263 3.1e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000006565
SMART Domains Protein: ENSMUSP00000006565
Gene: ENSMUSG00000006398

DomainStartEndE-ValueType
WD40 169 210 7.36e1 SMART
WD40 215 254 3.64e-2 SMART
WD40 257 294 9.6e-2 SMART
WD40 298 337 1.62e-8 SMART
WD40 344 386 8.29e-6 SMART
WD40 389 429 2.21e1 SMART
WD40 432 471 7.85e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000067896
AA Change: S27F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064816
Gene: ENSMUSG00000006390
AA Change: S27F

DomainStartEndE-ValueType
Pfam:ELO 23 262 8.5e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102673
SMART Domains Protein: ENSMUSP00000099734
Gene: ENSMUSG00000006390

DomainStartEndE-ValueType
Pfam:ELO 2 186 5.8e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143140
Predicted Effect probably damaging
Transcript: ENSMUST00000167636
AA Change: S27F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126685
Gene: ENSMUSG00000006390
AA Change: S27F

DomainStartEndE-ValueType
Pfam:ELO 23 263 3.1e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151302
Predicted Effect probably benign
Transcript: ENSMUST00000183942
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice hoozygous for a targeted allele exhibit complete neonatal lethality, abnormal skin morphology, impaired skin barrier function, decreased weight and impaired formation of very long chain fatty acids. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 T C 4: 129,907,419 (GRCm39) F977S probably damaging Het
Ago4 A G 4: 126,406,393 (GRCm39) Y306H probably benign Het
Cblc T C 7: 19,526,502 (GRCm39) T196A probably damaging Het
Cfap52 T A 11: 67,844,445 (GRCm39) probably null Het
Cops3 T C 11: 59,710,844 (GRCm39) N375S probably benign Het
Crb1 T C 1: 139,170,931 (GRCm39) T759A probably benign Het
Dnah3 T C 7: 119,685,557 (GRCm39) K153E probably benign Het
Erc2 A G 14: 27,863,185 (GRCm39) E804G probably damaging Het
Fam110b G T 4: 5,798,840 (GRCm39) C86F probably damaging Het
Fbn1 T A 2: 125,236,541 (GRCm39) R380W probably damaging Het
Gatad2a C T 8: 70,369,301 (GRCm39) R221Q probably damaging Het
Gcn1 C T 5: 115,727,174 (GRCm39) P677L probably damaging Het
Gm6020 C T 19: 61,172,391 (GRCm39) H22Y possibly damaging Het
Gm9817 T C 13: 45,232,605 (GRCm39) V136A unknown Het
Gmip T A 8: 70,273,622 (GRCm39) L971H probably damaging Het
Gnptab G A 10: 88,254,989 (GRCm39) E192K possibly damaging Het
Grm7 G A 6: 111,335,568 (GRCm39) V660I probably benign Het
Helz2 G A 2: 180,876,082 (GRCm39) P1471S probably damaging Het
Herc1 G A 9: 66,386,743 (GRCm39) G3786S probably damaging Het
Isg20 T C 7: 78,569,647 (GRCm39) V206A probably benign Het
Jund T A 8: 71,152,470 (GRCm39) I255N probably damaging Het
Kcnt2 A T 1: 140,353,079 (GRCm39) I263F probably damaging Het
Kif2c A T 4: 117,019,420 (GRCm39) L561Q probably benign Het
Klhl3 T C 13: 58,157,189 (GRCm39) D546G probably damaging Het
Klk1b4 A T 7: 43,859,054 (GRCm39) Q24L probably benign Het
Ltbp2 A T 12: 84,834,735 (GRCm39) C225S probably damaging Het
Mcub T C 3: 129,728,312 (GRCm39) H55R probably benign Het
Mecp2 C T X: 73,080,781 (GRCm39) A79T probably damaging Het
Med18 G A 4: 132,187,242 (GRCm39) R86* probably null Het
Mfsd2b T C 12: 4,919,155 (GRCm39) E63G probably damaging Het
Mtus1 C T 8: 41,537,362 (GRCm39) S118N probably damaging Het
Mybbp1a C T 11: 72,336,863 (GRCm39) T565I probably benign Het
Myo15b G A 11: 115,777,899 (GRCm39) G1049S probably damaging Het
Nfrkb T A 9: 31,326,064 (GRCm39) V1169E probably benign Het
Nr2f2 T A 7: 70,004,419 (GRCm39) M411L probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Nup214 A T 2: 31,886,392 (GRCm39) T585S possibly damaging Het
Or5m13 C T 2: 85,748,599 (GRCm39) T110I probably benign Het
Or6c214 A T 10: 129,590,943 (GRCm39) C125* probably null Het
Or7e177 T C 9: 20,211,633 (GRCm39) S47P probably benign Het
Or8b12b T A 9: 37,684,163 (GRCm39) D69E possibly damaging Het
Pih1d1 T A 7: 44,807,165 (GRCm39) I166N probably damaging Het
Prl2c5 T C 13: 13,366,263 (GRCm39) F181L probably benign Het
Prx C T 7: 27,218,535 (GRCm39) T1012I possibly damaging Het
Rassf8 T A 6: 145,754,199 (GRCm39) V5E probably damaging Het
Rassf9 C A 10: 102,380,755 (GRCm39) R44S possibly damaging Het
Relch A T 1: 105,592,301 (GRCm39) I157F probably benign Het
Sde2 G A 1: 180,687,573 (GRCm39) S153N probably benign Het
Sec16b T A 1: 157,380,545 (GRCm39) M372K possibly damaging Het
Sgcd A T 11: 47,085,937 (GRCm39) I71N probably damaging Het
Slco5a1 C T 1: 12,942,483 (GRCm39) C721Y probably damaging Het
Slx4ip A T 2: 136,910,038 (GRCm39) K344N probably benign Het
Sorcs3 A T 19: 48,782,713 (GRCm39) Q1076L probably benign Het
Spata21 A T 4: 140,838,692 (GRCm39) N581I possibly damaging Het
Spata31d1d G T 13: 59,875,936 (GRCm39) P533H probably benign Het
Spice1 T G 16: 44,185,989 (GRCm39) S111A probably damaging Het
Tex14 T G 11: 87,365,274 (GRCm39) F61V probably damaging Het
Timp3 C T 10: 86,181,716 (GRCm39) R196* probably null Het
Tll2 A G 19: 41,077,110 (GRCm39) probably null Het
Tppp A G 13: 74,169,326 (GRCm39) D22G possibly damaging Het
Trim24 G T 6: 37,934,013 (GRCm39) R652L probably damaging Het
Uaca T C 9: 60,777,718 (GRCm39) S702P possibly damaging Het
Uggt2 T C 14: 119,287,130 (GRCm39) E146G probably damaging Het
Vmn1r233 T C 17: 21,213,994 (GRCm39) S319G probably benign Het
Wdr47 A T 3: 108,530,692 (GRCm39) Q395L possibly damaging Het
Wrnip1 A G 13: 32,989,319 (GRCm39) probably null Het
Zfp420 A T 7: 29,573,933 (GRCm39) H51L probably damaging Het
Other mutations in Elovl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01544:Elovl1 APN 4 118,288,107 (GRCm39) splice site probably null
IGL01613:Elovl1 APN 4 118,288,467 (GRCm39) missense probably benign 0.06
IGL02598:Elovl1 APN 4 118,288,616 (GRCm39) splice site probably null
IGL03082:Elovl1 APN 4 118,288,077 (GRCm39) missense probably benign 0.00
R1323:Elovl1 UTSW 4 118,288,851 (GRCm39) missense possibly damaging 0.79
R1323:Elovl1 UTSW 4 118,288,851 (GRCm39) missense possibly damaging 0.79
R1521:Elovl1 UTSW 4 118,289,197 (GRCm39) missense probably benign 0.14
R1765:Elovl1 UTSW 4 118,287,707 (GRCm39) start codon destroyed probably null 0.13
R2139:Elovl1 UTSW 4 118,288,303 (GRCm39) missense probably damaging 0.99
R4667:Elovl1 UTSW 4 118,287,984 (GRCm39) missense probably damaging 1.00
R4957:Elovl1 UTSW 4 118,289,120 (GRCm39) missense probably damaging 1.00
R5262:Elovl1 UTSW 4 118,288,124 (GRCm39) unclassified probably benign
R5665:Elovl1 UTSW 4 118,288,832 (GRCm39) missense probably damaging 0.99
R5775:Elovl1 UTSW 4 118,288,094 (GRCm39) missense probably benign 0.27
R6676:Elovl1 UTSW 4 118,287,700 (GRCm39) unclassified probably benign
R7221:Elovl1 UTSW 4 118,288,811 (GRCm39) missense probably damaging 1.00
R8701:Elovl1 UTSW 4 118,287,707 (GRCm39) start codon destroyed probably benign 0.00
R8971:Elovl1 UTSW 4 118,288,709 (GRCm39) missense probably damaging 1.00
R9129:Elovl1 UTSW 4 118,289,156 (GRCm39) missense possibly damaging 0.91
R9506:Elovl1 UTSW 4 118,287,912 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGTACCACGAGCTGATGAAG -3'
(R):5'- TACAGCCTAGGCATTCCAGC -3'

Sequencing Primer
(F):5'- AAGCTGCTGTCTATGGCAC -3'
(R):5'- GCCTACCTCATAGACAATGTAGAGG -3'
Posted On 2014-06-30