Incidental Mutation 'IGL00542:Elovl2'
ID10468
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: 0.071) question?
Stock #IGL00542
Quality Score
Status
Chromosome13
Chromosomal Location41182381-41220405 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 41185314 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 287 (T287A)
Ref Sequence ENSEMBL: ENSMUSP00000021793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021793] [ENSMUST00000117096]
Predicted Effect probably benign
Transcript: ENSMUST00000021793
AA Change: T287A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000021793
Gene: ENSMUSG00000021364
AA Change: T287A

DomainStartEndE-ValueType
Pfam:ELO 30 265 1.4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117096
AA Change: T270A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114112
Gene: ENSMUSG00000021364
AA Change: T270A

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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Birc6 G A 17: 74,623,771 probably null Het
Cyp11b1 A T 15: 74,835,853 probably null Het
Ephb4 A G 5: 137,365,615 probably benign Het
Gpcpd1 T C 2: 132,556,983 probably null Het
Impg2 C T 16: 56,261,605 R858* probably null Het
Lrrk2 G A 15: 91,699,943 R302Q probably benign Het
Mgat4d T A 8: 83,354,796 H59Q probably benign Het
Plb1 T C 5: 32,269,834 M96T probably benign Het
Scn5a T A 9: 119,492,126 I1457F probably damaging Het
Smc4 T C 3: 69,028,438 probably benign Het
Ugt2a3 T C 5: 87,336,823 D114G possibly damaging Het
Zcchc7 C T 4: 44,931,462 P217L probably benign Het
Zfat T G 15: 68,170,222 D821A possibly damaging Het
Other mutations in Elovl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01769:Elovl2 APN 13 41186944 missense probably damaging 1.00
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
R7860:Elovl2 UTSW 13 41187467 missense probably benign 0.04
R8299:Elovl2 UTSW 13 41191920 missense probably benign 0.00
Z1177:Elovl2 UTSW 13 41189978 missense probably damaging 1.00
Posted On2012-12-06