Incidental Mutation 'IGL01819:Elovl7'
ID 154471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elovl7
Ensembl Gene ENSMUSG00000021696
Gene Name ELOVL fatty acid elongase 7
Synonyms 9130013K24Rik, ELOVL family member 7, elongation of long chain fatty acids (yeast)
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.261) question?
Stock # IGL01819
Quality Score
Status
Chromosome 13
Chromosomal Location 108350938-108422217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 108410854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 143 (V143G)
Ref Sequence ENSEMBL: ENSMUSP00000022207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022207] [ENSMUST00000225550]
AlphaFold Q9D2Y9
Predicted Effect probably damaging
Transcript: ENSMUST00000022207
AA Change: V143G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022207
Gene: ENSMUSG00000021696
AA Change: V143G

DomainStartEndE-ValueType
Pfam:ELO 29 269 2.1e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225550
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2b A G 11: 62,156,010 (GRCm39) N153S possibly damaging Het
Afm C T 5: 90,672,765 (GRCm39) T200I probably benign Het
Cyp2c67 T C 19: 39,604,165 (GRCm39) D397G probably damaging Het
Dnah9 A G 11: 65,998,952 (GRCm39) V1032A probably benign Het
Fhl4 T C 10: 84,934,734 (GRCm39) K16E probably damaging Het
Golga1 C T 2: 38,924,161 (GRCm39) C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 (GRCm39) R628* probably null Het
Hectd4 A G 5: 121,466,481 (GRCm39) D2432G possibly damaging Het
Iqcf5 T A 9: 106,393,189 (GRCm39) *149R probably null Het
Kcnab1 T A 3: 65,226,875 (GRCm39) Y185N probably damaging Het
Lars1 G T 18: 42,335,615 (GRCm39) T1167K probably benign Het
Mib2 A T 4: 155,739,715 (GRCm39) probably null Het
Mrps2 T C 2: 28,358,348 (GRCm39) V46A probably benign Het
Myo18b T C 5: 113,025,916 (GRCm39) T45A unknown Het
Myo1e C T 9: 70,250,322 (GRCm39) probably benign Het
Or10ag59 A G 2: 87,405,823 (GRCm39) I132V probably damaging Het
Or4k39 T A 2: 111,239,078 (GRCm39) V106E probably damaging Het
Osbp2 A T 11: 3,667,127 (GRCm39) I8N probably damaging Het
Pcdhb22 A T 18: 37,652,974 (GRCm39) N481Y probably damaging Het
Pde3a T C 6: 141,433,263 (GRCm39) W765R probably damaging Het
Phf11c T C 14: 59,630,586 (GRCm39) T40A probably benign Het
Pih1d2 T A 9: 50,533,177 (GRCm39) S268R probably benign Het
Pkd1l2 T C 8: 117,724,913 (GRCm39) N2333D probably damaging Het
Prex1 A G 2: 166,463,165 (GRCm39) I62T probably damaging Het
Ptcd2 T C 13: 99,463,219 (GRCm39) N245S possibly damaging Het
Ripor3 C A 2: 167,822,763 (GRCm39) V933F probably damaging Het
Sanbr A G 11: 23,534,561 (GRCm39) S105P probably benign Het
Sphk2 A G 7: 45,360,480 (GRCm39) probably null Het
Tfcp2 T G 15: 100,402,320 (GRCm39) E492D probably benign Het
Ttn C T 2: 76,629,106 (GRCm39) V14411I possibly damaging Het
Utp20 T C 10: 88,628,549 (GRCm39) Q915R probably damaging Het
Vmn2r45 C A 7: 8,488,556 (GRCm39) S158I probably benign Het
Other mutations in Elovl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01901:Elovl7 APN 13 108,410,927 (GRCm39) critical splice donor site probably null
R1346:Elovl7 UTSW 13 108,410,883 (GRCm39) missense probably benign 0.02
R1426:Elovl7 UTSW 13 108,419,028 (GRCm39) missense possibly damaging 0.66
R1677:Elovl7 UTSW 13 108,419,160 (GRCm39) missense probably damaging 1.00
R4163:Elovl7 UTSW 13 108,403,904 (GRCm39) missense possibly damaging 0.61
R4207:Elovl7 UTSW 13 108,419,040 (GRCm39) missense possibly damaging 0.76
R5000:Elovl7 UTSW 13 108,410,915 (GRCm39) missense probably benign 0.38
R5467:Elovl7 UTSW 13 108,416,156 (GRCm39) missense probably benign 0.12
R7186:Elovl7 UTSW 13 108,408,382 (GRCm39) missense probably damaging 1.00
R8736:Elovl7 UTSW 13 108,393,320 (GRCm39) missense probably benign 0.00
R8956:Elovl7 UTSW 13 108,393,320 (GRCm39) missense probably benign 0.00
R9401:Elovl7 UTSW 13 108,419,188 (GRCm39) missense probably benign 0.00
R9695:Elovl7 UTSW 13 108,416,242 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04