Incidental Mutation 'IGL01613:Elovl1'
ID 92246
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 # IGL01613
Quality Score
Status
Chromosome 4
Chromosomal Location 118285290-118290150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118288467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 108 (V108A)
Ref Sequence ENSEMBL: ENSMUSP00000126685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006557] [ENSMUST00000006565] [ENSMUST00000067896] [ENSMUST00000102673] [ENSMUST00000167636]
AlphaFold Q9JLJ5
Predicted Effect probably benign
Transcript: ENSMUST00000006557
AA Change: V108A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000006557
Gene: ENSMUSG00000006390
AA Change: V108A

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
AA Change: V108A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000064816
Gene: ENSMUSG00000006390
AA Change: V108A

DomainStartEndE-ValueType
Pfam:ELO 23 262 8.5e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102673
AA Change: V31A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099734
Gene: ENSMUSG00000006390
AA Change: V31A

DomainStartEndE-ValueType
Pfam:ELO 2 186 5.8e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135162
Predicted Effect probably benign
Transcript: ENSMUST00000167636
AA Change: V108A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126685
Gene: ENSMUSG00000006390
AA Change: V108A

DomainStartEndE-ValueType
Pfam:ELO 23 263 3.1e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143140
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,589,716 (GRCm39) M446R possibly damaging Het
Abca16 A G 7: 120,140,500 (GRCm39) N1599S probably benign Het
Ankib1 G A 5: 3,763,146 (GRCm39) Q528* probably null Het
Ano10 A T 9: 122,088,606 (GRCm39) L347M possibly damaging Het
Bag6 T C 17: 35,361,992 (GRCm39) probably benign Het
Bpnt1 T C 1: 185,086,191 (GRCm39) V182A possibly damaging Het
Capn13 G T 17: 73,638,053 (GRCm39) T450N probably benign Het
Cbr3 A T 16: 93,480,331 (GRCm39) E40V probably benign Het
Cdk10 T C 8: 123,955,126 (GRCm39) I159T probably damaging Het
Cela3b T C 4: 137,152,382 (GRCm39) D65G possibly damaging Het
Csf2rb T G 15: 78,219,502 (GRCm39) probably benign Het
Cyp2b19 C T 7: 26,462,886 (GRCm39) T256I possibly damaging Het
Dpp9 T C 17: 56,497,713 (GRCm39) H687R probably benign Het
Emb T A 13: 117,408,614 (GRCm39) N318K probably damaging Het
Ermp1 A G 19: 29,617,339 (GRCm39) L36P probably damaging Het
Esco2 T G 14: 66,064,044 (GRCm39) H380P possibly damaging Het
Gm9747 G A 1: 82,211,809 (GRCm39) probably benign Het
Golga1 A G 2: 38,910,138 (GRCm39) M603T probably benign Het
Hsph1 A G 5: 149,550,743 (GRCm39) V411A probably benign Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Ints11 T C 4: 155,969,655 (GRCm39) probably null Het
Jakmip1 G T 5: 37,258,112 (GRCm39) A253S probably damaging Het
Met A G 6: 17,540,576 (GRCm39) Y834C probably damaging Het
Mgl2 A G 11: 70,024,984 (GRCm39) T2A probably benign Het
Myh2 G T 11: 67,088,170 (GRCm39) V1929L probably benign Het
Myh8 T C 11: 67,192,536 (GRCm39) S1472P probably benign Het
Myo1e T C 9: 70,248,555 (GRCm39) probably benign Het
Ndufaf7 A G 17: 79,244,931 (GRCm39) I17V probably benign Het
Or4a47 T C 2: 89,666,152 (GRCm39) T46A probably damaging Het
Or5ak22 C T 2: 85,230,515 (GRCm39) D121N probably damaging Het
Or5h25 A T 16: 58,930,284 (GRCm39) S230T probably damaging Het
Or6c6c A G 10: 129,541,492 (GRCm39) I248M probably benign Het
Or7g18 T A 9: 18,786,617 (GRCm39) probably benign Het
Or8b50 A G 9: 38,517,850 (GRCm39) I30V probably null Het
Or8k1 T G 2: 86,047,505 (GRCm39) D183A probably damaging Het
Ppef2 T C 5: 92,383,679 (GRCm39) E477G probably benign Het
Scmh1 T A 4: 120,387,097 (GRCm39) probably benign Het
Scn1a C A 2: 66,116,281 (GRCm39) D1473Y probably damaging Het
Sdr42e1 C T 8: 118,389,676 (GRCm39) V322I probably benign Het
Slco1a7 G T 6: 141,658,940 (GRCm39) T552K possibly damaging Het
Spta1 G A 1: 174,035,960 (GRCm39) A1089T probably damaging Het
Sufu T C 19: 46,464,059 (GRCm39) Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 (GRCm39) F108L possibly damaging Het
Ttn T C 2: 76,805,308 (GRCm39) N177S probably benign Het
Tyk2 T C 9: 21,031,872 (GRCm39) D401G probably damaging Het
Vav1 T C 17: 57,614,067 (GRCm39) F650L possibly damaging Het
Wdr12 T C 1: 60,119,718 (GRCm39) H385R probably damaging Het
Xab2 T C 8: 3,660,880 (GRCm39) M745V probably benign Het
Other mutations in Elovl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01544:Elovl1 APN 4 118,288,107 (GRCm39) splice site probably null
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
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 2013-12-09