Incidental Mutation 'IGL02598:Elovl1'
ID 299940
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02598
Quality Score
Status
Chromosome 4
Chromosomal Location 118285290-118290150 bp(+) (GRCm39)
Type of Mutation splice site (1482 bp from exon)
DNA Base Change (assembly) T to C at 118288616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006557] [ENSMUST00000006565] [ENSMUST00000067896] [ENSMUST00000102673] [ENSMUST00000167636]
AlphaFold Q9JLJ5
Predicted Effect probably benign
Transcript: ENSMUST00000006557
AA Change: I129T

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000006557
Gene: ENSMUSG00000006390
AA Change: I129T

DomainStartEndE-ValueType
Pfam:ELO 23 263 3.1e-66 PFAM
Predicted Effect probably null
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 possibly damaging
Transcript: ENSMUST00000067896
AA Change: I129T

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064816
Gene: ENSMUSG00000006390
AA Change: I129T

DomainStartEndE-ValueType
Pfam:ELO 23 262 8.5e-67 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102673
AA Change: I52T

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099734
Gene: ENSMUSG00000006390
AA Change: I52T

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 possibly damaging
Transcript: ENSMUST00000167636
AA Change: I129T

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126685
Gene: ENSMUSG00000006390
AA Change: I129T

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
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,834,448 (GRCm39) M1K probably null Het
Abca13 C T 11: 9,381,898 (GRCm39) T3850I probably damaging Het
Abcc4 A T 14: 118,905,781 (GRCm39) L95* probably null Het
Acacb A G 5: 114,384,098 (GRCm39) Y2209C probably damaging Het
Acadm A G 3: 153,644,181 (GRCm39) probably benign Het
Arid2 G A 15: 96,269,417 (GRCm39) V1177M probably damaging Het
Atp8a1 A T 5: 67,840,099 (GRCm39) probably null Het
Catsperd A G 17: 56,954,815 (GRCm39) probably null Het
Cd28 A G 1: 60,802,498 (GRCm39) probably benign Het
Cep164 A G 9: 45,682,002 (GRCm39) Y1934H probably damaging Het
Cep350 T C 1: 155,738,713 (GRCm39) I2377V probably benign Het
Csmd3 T C 15: 47,533,086 (GRCm39) K1581E probably damaging Het
Dab2 A T 15: 6,458,847 (GRCm39) N232I probably damaging Het
Dyrk4 G A 6: 126,860,982 (GRCm39) probably benign Het
Efcab14 T A 4: 115,597,631 (GRCm39) C75* probably null Het
Eps8l2 T G 7: 140,934,849 (GRCm39) probably benign Het
Grik1 A T 16: 87,744,872 (GRCm39) V460E probably damaging Het
Gtf2f2 A G 14: 76,245,182 (GRCm39) S35P probably benign Het
Ifi203 A G 1: 173,762,568 (GRCm39) probably benign Het
Ifi209 T C 1: 173,472,281 (GRCm39) V374A probably damaging Het
Kics2 G A 10: 121,575,876 (GRCm39) probably benign Het
Lars1 A G 18: 42,360,342 (GRCm39) S705P possibly damaging Het
Lcmt1 A G 7: 123,020,871 (GRCm39) probably benign Het
Limd1 T C 9: 123,345,933 (GRCm39) S571P probably benign Het
Limd1 T A 9: 123,309,236 (GRCm39) Y312N probably benign Het
Lin28b A T 10: 45,296,622 (GRCm39) D125E possibly damaging Het
Lmtk3 T C 7: 45,442,564 (GRCm39) S416P probably damaging Het
Map7d3 T C X: 55,855,146 (GRCm39) T446A probably benign Het
Masp1 T A 16: 23,278,381 (GRCm39) M523L probably benign Het
Mroh4 C A 15: 74,483,092 (GRCm39) probably null Het
Mtmr6 G A 14: 60,537,953 (GRCm39) A651T probably damaging Het
Myocd A G 11: 65,074,296 (GRCm39) S738P probably benign Het
Or10a2 A T 7: 106,673,923 (GRCm39) N296I possibly damaging Het
Or4d5 A T 9: 40,011,861 (GRCm39) F308L probably benign Het
Or52l1 A G 7: 104,830,163 (GRCm39) V134A probably damaging Het
Or5d46 A T 2: 88,170,595 (GRCm39) I229F possibly damaging Het
Or6c3b A T 10: 129,527,142 (GRCm39) I256N possibly damaging Het
Parg G T 14: 31,936,281 (GRCm39) V479L probably damaging Het
Pcdhb10 C A 18: 37,546,834 (GRCm39) H637N possibly damaging Het
Plekhg2 G A 7: 28,059,900 (GRCm39) T1118I possibly damaging Het
Podxl T C 6: 31,501,355 (GRCm39) E400G probably damaging Het
Prss54 C A 8: 96,292,337 (GRCm39) V81F probably damaging Het
Pzp A G 6: 128,464,420 (GRCm39) L1369P probably benign Het
Rfx8 A T 1: 39,735,128 (GRCm39) probably benign Het
Rgs6 C T 12: 83,138,571 (GRCm39) P302S probably benign Het
Rnf148 A C 6: 23,654,456 (GRCm39) I180S probably damaging Het
Sacm1l A G 9: 123,408,061 (GRCm39) D350G probably benign Het
Slc33a1 C T 3: 63,850,753 (GRCm39) G524S probably benign Het
Slc5a7 A G 17: 54,591,221 (GRCm39) V237A probably benign Het
Spink7 T C 18: 62,727,356 (GRCm39) D56G probably damaging Het
Syn3 A G 10: 86,303,063 (GRCm39) S31P probably damaging Het
Tesl1 A T X: 23,773,710 (GRCm39) T404S probably benign Het
Thrb C A 14: 18,008,606 (GRCm38) P110Q possibly damaging Het
Vmn2r76 G T 7: 85,877,879 (GRCm39) T506K probably benign Het
Vps45 A G 3: 95,938,354 (GRCm39) L486P probably benign Het
Zan G A 5: 137,444,473 (GRCm39) T1823M unknown Het
Zdhhc6 T A 19: 55,302,959 (GRCm39) Q14L probably benign Het
Zfp990 A T 4: 145,263,533 (GRCm39) N177I possibly 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
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
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
Posted On 2015-04-16