Incidental Mutation 'IGL01769:Elovl2'
ID153800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elovl2
Ensembl Gene ENSMUSG00000021364
Gene Nameelongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2
SynonymsSsc2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL01769
Quality Score
Status
Chromosome13
Chromosomal Location41182381-41220405 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 41186944 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 225 (V225G)
Ref Sequence ENSEMBL: ENSMUSP00000021793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021793] [ENSMUST00000117096]
Predicted Effect probably damaging
Transcript: ENSMUST00000021793
AA Change: V225G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021793
Gene: ENSMUSG00000021364
AA Change: V225G

DomainStartEndE-ValueType
Pfam:ELO 30 265 1.4e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117096
AA Change: V208G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114112
Gene: ENSMUSG00000021364
AA Change: V208G

DomainStartEndE-ValueType
Pfam:ELO 13 248 5.8e-67 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice heterozygous for a knock-out allele exhibit reduced male fertility. Mice homozygous for a knock-out allele exhibit male infertility associated with arrested spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 131,357,486 M162L probably benign Het
Aldh1a1 A T 19: 20,642,919 T487S probably benign Het
Bahcc1 T C 11: 120,280,204 probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cldn10 G A 14: 118,873,717 probably benign Het
Cntn3 G A 6: 102,208,184 T657I probably damaging Het
Crb1 A T 1: 139,337,068 I204K probably damaging Het
Crim1 C A 17: 78,313,235 T368K probably benign Het
Csad C A 15: 102,180,081 V237L probably benign Het
Cyp39a1 T G 17: 43,749,915 H451Q possibly damaging Het
Dclk2 T C 3: 86,816,360 E376G possibly damaging Het
Dnah10 A T 5: 124,764,944 Y1331F possibly damaging Het
Dnajc11 A T 4: 151,979,302 I452L probably damaging Het
Dpf2 T C 19: 5,912,782 probably benign Het
Fancd2 T A 6: 113,545,111 H222Q possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Flt4 C T 11: 49,635,171 probably benign Het
Foxp2 T C 6: 15,409,835 V478A possibly damaging Het
H2-Q1 G A 17: 35,323,529 V317M probably benign Het
Igkv3-5 G A 6: 70,663,352 probably benign Het
Isg20 G A 7: 78,914,381 C12Y probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Nat8f5 G A 6: 85,817,877 R34C probably benign Het
Olfr924 T C 9: 38,848,333 V73A probably benign Het
Pramel7 A G 2: 87,489,588 S454P probably benign Het
Rarb T A 14: 16,443,760 E176V probably damaging Het
Sema4a T A 3: 88,449,756 I303F possibly damaging Het
Slc25a24 G A 3: 109,149,500 E110K probably damaging Het
Slc7a13 A T 4: 19,839,527 I377L probably benign Het
Smim19 T C 8: 22,463,377 probably null Het
Tiam2 A G 17: 3,427,290 Y596C probably damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ubxn8 G A 8: 33,629,378 probably benign Het
Vmn2r108 C A 17: 20,471,018 M414I probably benign Het
Vmn2r99 A G 17: 19,380,115 N467S probably damaging Het
Zfp456 T A 13: 67,367,153 T145S probably benign Het
Other mutations in Elovl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00542:Elovl2 APN 13 41185314 missense probably benign 0.01
IGL02514:Elovl2 APN 13 41194771 missense probably benign 0.00
R0542:Elovl2 UTSW 13 41191976 splice site probably benign
R0765:Elovl2 UTSW 13 41187466 missense probably benign 0.17
R1076:Elovl2 UTSW 13 41190107 missense possibly damaging 0.83
R5562:Elovl2 UTSW 13 41185296 makesense probably null
Posted On2014-02-04