Incidental Mutation 'R5262:Elovl1'
ID 401489
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 042857-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5262 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 118285290-118290150 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 118288124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000006557] [ENSMUST00000006565] [ENSMUST00000067896] [ENSMUST00000102673] [ENSMUST00000167636]
AlphaFold Q9JLJ5
Predicted Effect probably benign
Transcript: ENSMUST00000006557
SMART Domains Protein: ENSMUSP00000006557
Gene: ENSMUSG00000006390

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 benign
Transcript: ENSMUST00000067896
SMART Domains Protein: ENSMUSP00000064816
Gene: ENSMUSG00000006390

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 noncoding transcript
Transcript: ENSMUST00000151302
Predicted Effect probably benign
Transcript: ENSMUST00000183942
Predicted Effect probably benign
Transcript: ENSMUST00000167636
SMART Domains Protein: ENSMUSP00000126685
Gene: ENSMUSG00000006390

DomainStartEndE-ValueType
Pfam:ELO 23 263 3.1e-66 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 98% (61/62)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 T A 4: 126,390,557 (GRCm39) D821V possibly damaging Het
Ankdd1b C A 13: 96,557,281 (GRCm39) R384L probably damaging Het
Ces1e A G 8: 93,950,586 (GRCm39) F65S probably damaging Het
Cfap53 A C 18: 74,462,530 (GRCm39) S425R probably benign Het
Corin A G 5: 72,462,298 (GRCm39) V837A probably damaging Het
Cyp2d34 A T 15: 82,502,572 (GRCm39) V188E probably damaging Het
Defb26 A T 2: 152,349,878 (GRCm39) M134K unknown Het
Dnah10 A C 5: 124,862,220 (GRCm39) K2158N probably damaging Het
Dnah9 C T 11: 66,003,159 (GRCm39) V882M probably benign Het
Dpyd C A 3: 118,591,071 (GRCm39) Y186* probably null Het
Fars2 T A 13: 36,526,001 (GRCm39) I329N probably damaging Het
Gstm1 T A 3: 107,923,679 (GRCm39) M109L probably benign Het
Gtf2e1 T C 16: 37,356,293 (GRCm39) T80A probably damaging Het
Gtf2h2 A G 13: 100,618,356 (GRCm39) probably benign Het
Hrh4 G T 18: 13,148,870 (GRCm39) L77F probably damaging Het
Ifi47 A G 11: 48,986,559 (GRCm39) T109A probably benign Het
Igsf5 G T 16: 96,192,237 (GRCm39) E179* probably null Het
Ints8 A G 4: 11,211,916 (GRCm39) I885T probably damaging Het
Iqgap1 T G 7: 80,376,490 (GRCm39) I1341L probably benign Het
Kmt2b A G 7: 30,269,219 (GRCm39) L2567P probably damaging Het
Lilrb4a T C 10: 51,369,303 (GRCm39) probably null Het
Maip1 G A 1: 57,446,131 (GRCm39) R67H probably damaging Het
Muc6 T A 7: 141,237,375 (GRCm39) I254F possibly damaging Het
Nfkb1 A T 3: 135,318,173 (GRCm39) probably null Het
Nlrp4a T C 7: 26,159,236 (GRCm39) probably null Het
Nrap A T 19: 56,308,655 (GRCm39) I1477N possibly damaging Het
Pdgfa A G 5: 138,979,049 (GRCm39) S52P probably benign Het
Pou1f1 G T 16: 65,328,868 (GRCm39) E196* probably null Het
Ppp2r5e G A 12: 75,640,045 (GRCm39) R19W probably damaging Het
Ptn T A 6: 36,721,419 (GRCm39) Q7L probably benign Het
Rbp3 G T 14: 33,676,807 (GRCm39) A252S probably damaging Het
Rcor2 G T 19: 7,251,426 (GRCm39) V313L probably damaging Het
Rtp3 A T 9: 110,815,195 (GRCm39) probably benign Het
Ryr2 T C 13: 11,787,323 (GRCm39) T1017A probably damaging Het
Scgb2b11 T C 7: 31,908,776 (GRCm39) N108S probably benign Het
Sgo2b C A 8: 64,396,171 (GRCm39) L28F probably damaging Het
Shroom3 A G 5: 93,112,432 (GRCm39) E1850G probably damaging Het
Slc16a14 A G 1: 84,890,612 (GRCm39) L231P probably benign Het
Slfn5 A G 11: 82,847,496 (GRCm39) E127G possibly damaging Het
Snx16 C T 3: 10,502,892 (GRCm39) M118I probably damaging Het
Snx21 T C 2: 164,633,741 (GRCm39) F176L probably damaging Het
Tap2 A G 17: 34,432,990 (GRCm39) N424S probably benign Het
Tcf7l1 T C 6: 72,613,449 (GRCm39) probably benign Het
Trappc8 C T 18: 20,951,247 (GRCm39) V1400I probably benign Het
Trim58 T C 11: 58,542,494 (GRCm39) Y485H possibly damaging Het
U2af1l4 C T 7: 30,263,638 (GRCm39) T65I probably benign Het
Ufl1 G T 4: 25,251,294 (GRCm39) probably benign Het
Usp8 A G 2: 126,593,031 (GRCm39) N762S probably damaging Het
Virma A T 4: 11,539,926 (GRCm39) D1465V probably benign Het
Vmn1r48 A T 6: 90,013,016 (GRCm39) S270T probably benign Het
Vrk2 T A 11: 26,541,697 (GRCm39) Y9F possibly damaging Het
Wwp1 A G 4: 19,631,057 (GRCm39) F659L probably damaging Het
Zbtb24 C T 10: 41,340,556 (GRCm39) Q529* probably null Het
Zranb1 CTGATGATGATG CTGATGATGATGATG 7: 132,584,556 (GRCm39) probably benign 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
R1894:Elovl1 UTSW 4 118,287,945 (GRCm39) missense probably damaging 0.99
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
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'- GGATCCAAAGCTACCCTCTGATG -3'
(R):5'- AAAAGTCTATGGGGTCACAGC -3'

Sequencing Primer
(F):5'- GGGTCCCCCTTGCTAATAAC -3'
(R):5'- CGCCAGGTGTAGGTACTCAG -3'
Posted On 2016-07-06