Incidental Mutation 'IGL00561:Elovl5'
ID6153
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elovl5
Ensembl Gene ENSMUSG00000032349
Gene NameELOVL family member 5, elongation of long chain fatty acids (yeast)
Synonyms1110059L23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00561
Quality Score
Status
Chromosome9
Chromosomal Location77917364-77984519 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 77960974 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 56 (R56Q)
Ref Sequence ENSEMBL: ENSMUSP00000120171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034904] [ENSMUST00000133757] [ENSMUST00000134072]
Predicted Effect probably benign
Transcript: ENSMUST00000034904
AA Change: R56Q

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000034904
Gene: ENSMUSG00000032349
AA Change: R56Q

DomainStartEndE-ValueType
Pfam:ELO 27 262 2.3e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133757
AA Change: R56Q

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000123121
Gene: ENSMUSG00000032349
AA Change: R56Q

DomainStartEndE-ValueType
Pfam:ELO 27 180 4.6e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134072
AA Change: R56Q

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120171
Gene: ENSMUSG00000032349
AA Change: R56Q

DomainStartEndE-ValueType
Pfam:ELO 27 70 3.5e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148398
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele have defects in fatty acid synthesis in the liver that result in hepatic steatosis. Also, majority of female mice have defects in female fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T A 4: 73,942,719 T215S possibly damaging Het
9130019O22Rik T A 7: 127,386,544 probably benign Het
Bcl6b T C 11: 70,228,484 probably benign Het
C8a G A 4: 104,865,445 probably benign Het
Cep152 G A 2: 125,563,723 Q1630* probably null Het
Dnah6 T C 6: 73,195,620 N285S possibly damaging Het
Fcf1 T C 12: 84,973,061 V36A probably benign Het
Gdf3 A G 6: 122,607,126 L94P probably damaging Het
Kcnt2 A T 1: 140,523,098 H705L probably damaging Het
Ly75 A T 2: 60,376,077 C83S probably damaging Het
Med12l T A 3: 59,227,824 S798T probably benign Het
Morc3 G T 16: 93,873,395 probably null Het
Neb A T 2: 52,206,105 N1049K probably benign Het
Nlrp6 A G 7: 140,923,124 D381G probably damaging Het
Pcnx A T 12: 81,996,053 D2303V probably damaging Het
Prss45 A T 9: 110,840,510 N227I probably damaging Het
Rbbp6 G A 7: 122,971,063 M34I probably damaging Het
Slc30a7 T C 3: 115,946,720 probably null Het
Smpdl3a T C 10: 57,807,946 Y267H probably benign Het
Snw1 A G 12: 87,450,804 probably null Het
Sp140 G A 1: 85,621,672 R208K probably benign Het
Tbx19 A G 1: 165,160,399 V55A probably benign Het
Tmem131 A G 1: 36,811,427 S1059P probably damaging Het
Tpo G A 12: 30,084,620 P780S probably damaging Het
Ttn G A 2: 76,739,711 T26946M probably damaging Het
Vps33b A G 7: 80,285,843 E372G probably damaging Het
Vwf T C 6: 125,642,721 V1454A possibly damaging Het
Zbbx C T 3: 75,061,532 probably null Het
Other mutations in Elovl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Elovl5 APN 9 77981571 missense possibly damaging 0.67
IGL02331:Elovl5 APN 9 77979899 missense possibly damaging 0.81
IGL02851:Elovl5 APN 9 77981502 missense probably damaging 1.00
IGL03011:Elovl5 APN 9 77982784 missense probably benign 0.32
laid-up UTSW 9 77981502 missense probably damaging 0.99
R0452:Elovl5 UTSW 9 77960911 missense probably damaging 1.00
R0494:Elovl5 UTSW 9 77960917 missense probably benign 0.05
R3706:Elovl5 UTSW 9 77979837 missense probably null 1.00
R4353:Elovl5 UTSW 9 77960917 missense probably benign 0.05
R6211:Elovl5 UTSW 9 77981502 missense probably damaging 0.99
R6640:Elovl5 UTSW 9 77979913 nonsense probably null
R7804:Elovl5 UTSW 9 77979823 critical splice acceptor site probably null
RF031:Elovl5 UTSW 9 77981473 critical splice acceptor site probably null
Z1176:Elovl5 UTSW 9 77976755 missense possibly damaging 0.48
Posted On2012-04-20