Incidental Mutation 'R5775:Elovl1'
ID 448718
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 043374-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5775 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 118285290-118290150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118288094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 77 (V77I)
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: V77I

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000006557
Gene: ENSMUSG00000006390
AA Change: V77I

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: V77I

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000064816
Gene: ENSMUSG00000006390
AA Change: V77I

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 benign
Transcript: ENSMUST00000167636
AA Change: V77I

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126685
Gene: ENSMUSG00000006390
AA Change: V77I

DomainStartEndE-ValueType
Pfam:ELO 23 263 3.1e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151302
Predicted Effect probably benign
Transcript: ENSMUST00000183942
Meta Mutation Damage Score 0.1337 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A G 12: 113,509,886 (GRCm39) D753G possibly damaging Het
Arpc2 T A 1: 74,295,108 (GRCm39) probably null Het
Atxn2 C T 5: 121,951,512 (GRCm39) T619M probably damaging Het
Cacna1s T C 1: 136,035,860 (GRCm39) Y1120H probably damaging Het
Calm5 T C 13: 3,904,435 (GRCm39) L20S probably damaging Het
Carmil1 T C 13: 24,460,520 (GRCm39) I20V probably benign Het
Cd177 T C 7: 24,451,693 (GRCm39) E441G probably damaging Het
Cd63 T A 10: 128,746,299 (GRCm39) C9S probably damaging Het
Cep250 A C 2: 155,811,294 (GRCm39) D380A possibly damaging Het
Col5a3 G T 9: 20,712,368 (GRCm39) P509Q unknown Het
Cyp11b2 A G 15: 74,725,327 (GRCm39) V264A probably benign Het
Dennd6a T A 14: 26,340,528 (GRCm39) L214* probably null Het
Dna2 A G 10: 62,785,021 (GRCm39) N46S possibly damaging Het
Eml1 A T 12: 108,472,813 (GRCm39) Y207F probably damaging Het
Epha6 C T 16: 59,639,357 (GRCm39) R839Q possibly damaging Het
Erlec1 A T 11: 30,893,848 (GRCm39) S105T probably benign Het
Esp3 T A 17: 40,944,468 (GRCm39) S37T possibly damaging Het
Foxh1 G A 15: 76,554,049 (GRCm39) A8V probably benign Het
Fut1 A C 7: 45,268,886 (GRCm39) D280A probably damaging Het
Gm13998 G T 2: 119,708,892 (GRCm39) noncoding transcript Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
H2az1 T C 3: 137,571,380 (GRCm39) Y61H probably damaging Het
Kcns1 T C 2: 164,006,686 (GRCm39) I426V probably damaging Het
Kdm4c T G 4: 74,277,668 (GRCm39) V774G probably damaging Het
Mrc2 G A 11: 105,228,639 (GRCm39) V673I probably benign Het
Mtnr1b G A 9: 15,774,168 (GRCm39) A297V possibly damaging Het
Or5d43 A T 2: 88,105,045 (GRCm39) M116K probably damaging Het
Or8b40 A T 9: 38,027,423 (GRCm39) E110D probably damaging Het
Osbpl5 A T 7: 143,258,266 (GRCm39) V346D probably benign Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Pgpep1 G A 8: 71,105,101 (GRCm39) T53M probably damaging Het
Pigo T C 4: 43,023,475 (GRCm39) D233G probably damaging Het
Pmm1 A T 15: 81,836,156 (GRCm39) I152N probably benign Het
Pot1a A T 6: 25,757,297 (GRCm39) probably null Het
Ppp1r12b G T 1: 134,803,780 (GRCm39) L460I probably benign Het
Prrc2a T C 17: 35,377,463 (GRCm39) D565G unknown Het
Psd C A 19: 46,303,211 (GRCm39) E724* probably null Het
Rasa2 C T 9: 96,459,521 (GRCm39) probably null Het
Rsbn1 A T 3: 103,869,888 (GRCm39) Q783L possibly damaging Het
Ryr2 T C 13: 11,784,848 (GRCm39) Y1035C probably damaging Het
Sec24d C T 3: 123,084,109 (GRCm39) A96V probably benign Het
Sec61a2 A T 2: 5,887,585 (GRCm39) probably null Het
Sec62 A G 3: 30,847,436 (GRCm39) probably benign Het
Tcstv2a T A 13: 120,725,475 (GRCm39) C46* probably null Het
Tmem132b T A 5: 125,715,394 (GRCm39) probably null Het
Tnip3 A G 6: 65,591,741 (GRCm39) S247G probably benign Het
Traf3 A G 12: 111,219,162 (GRCm39) K263R possibly damaging Het
Tubgcp3 A T 8: 12,675,056 (GRCm39) I713N probably damaging Het
Unc5c A G 3: 141,534,281 (GRCm39) E860G probably damaging Het
Usp44 A G 10: 93,681,840 (GRCm39) S97G possibly damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vps37a A G 8: 40,982,160 (GRCm39) H109R probably damaging Het
Wfikkn2 G T 11: 94,129,114 (GRCm39) D342E probably benign Het
Zfp354b A T 11: 50,813,647 (GRCm39) F426Y probably benign Het
Zfp462 C A 4: 55,010,590 (GRCm39) T852N probably damaging Het
Zfp987 T G 4: 146,061,505 (GRCm39) S312R 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
R5262:Elovl1 UTSW 4 118,288,124 (GRCm39) unclassified probably benign
R5665:Elovl1 UTSW 4 118,288,832 (GRCm39) missense probably damaging 0.99
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'- TCCAAAGCTACCCTCTGATGG -3'
(R):5'- GCTTCAGGGCTATTGGAAAAG -3'

Sequencing Primer
(F):5'- GGGTCCCCCTTGCTAATAAC -3'
(R):5'- CAGGTGTAGGTACTCAGCCAAC -3'
Posted On 2016-12-15