Incidental Mutation 'IGL01819:Elovl7'
ID154471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elovl7
Ensembl Gene ENSMUSG00000021696
Gene NameELOVL family member 7, elongation of long chain fatty acids (yeast)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.177) question?
Stock #IGL01819
Quality Score
Status
Chromosome13
Chromosomal Location108214404-108285683 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 108274320 bp
ZygosityHeterozygous
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]
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
0610010F05Rik A G 11: 23,584,561 S105P probably benign Het
Adora2b A G 11: 62,265,184 N153S possibly damaging Het
Afm C T 5: 90,524,906 T200I probably benign Het
Cyp2c67 T C 19: 39,615,721 D397G probably damaging Het
Dnah9 A G 11: 66,108,126 V1032A probably benign Het
Fhl4 T C 10: 85,098,870 K16E probably damaging Het
Golga1 C T 2: 39,034,149 C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 R628* probably null Het
Hectd4 A G 5: 121,328,418 D2432G possibly damaging Het
Iqcf5 T A 9: 106,515,990 *149R probably null Het
Kcnab1 T A 3: 65,319,454 Y185N probably damaging Het
Lars G T 18: 42,202,550 T1167K probably benign Het
Mib2 A T 4: 155,655,258 probably null Het
Mrps2 T C 2: 28,468,336 V46A probably benign Het
Myo18b T C 5: 112,878,050 T45A unknown Het
Myo1e C T 9: 70,343,040 probably benign Het
Olfr1129 A G 2: 87,575,479 I132V probably damaging Het
Olfr1285 T A 2: 111,408,733 V106E probably damaging Het
Osbp2 A T 11: 3,717,127 I8N probably damaging Het
Pcdhb22 A T 18: 37,519,921 N481Y probably damaging Het
Pde3a T C 6: 141,487,537 W765R probably damaging Het
Phf11c T C 14: 59,393,137 T40A probably benign Het
Pih1d2 T A 9: 50,621,877 S268R probably benign Het
Pkd1l2 T C 8: 116,998,174 N2333D probably damaging Het
Prex1 A G 2: 166,621,245 I62T probably damaging Het
Ptcd2 T C 13: 99,326,711 N245S possibly damaging Het
Ripor3 C A 2: 167,980,843 V933F probably damaging Het
Sphk2 A G 7: 45,711,056 probably null Het
Tfcp2 T G 15: 100,504,439 E492D probably benign Het
Ttn C T 2: 76,798,762 V14411I possibly damaging Het
Utp20 T C 10: 88,792,687 Q915R probably damaging Het
Vmn2r45 C A 7: 8,485,557 S158I probably benign Het
Other mutations in Elovl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01901:Elovl7 APN 13 108274393 critical splice donor site probably null
R1346:Elovl7 UTSW 13 108274349 missense probably benign 0.02
R1426:Elovl7 UTSW 13 108282494 missense possibly damaging 0.66
R1677:Elovl7 UTSW 13 108282626 missense probably damaging 1.00
R4163:Elovl7 UTSW 13 108267370 missense possibly damaging 0.61
R4207:Elovl7 UTSW 13 108282506 missense possibly damaging 0.76
R5000:Elovl7 UTSW 13 108274381 missense probably benign 0.38
R5467:Elovl7 UTSW 13 108279622 missense probably benign 0.12
R7186:Elovl7 UTSW 13 108271848 missense probably damaging 1.00
Posted On2014-02-04