Incidental Mutation 'IGL01704:Lias'
ID 104539
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lias
Ensembl Gene ENSMUSG00000029199
Gene Name lipoic acid synthetase
Synonyms 7a5ex, 2900022L22Rik, 4933425M12Rik, mLip1, MGC7254
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01704
Quality Score
Status
Chromosome 5
Chromosomal Location 65548840-65567766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 65562673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 318 (V318F)
Ref Sequence ENSEMBL: ENSMUSP00000113228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031101] [ENSMUST00000122026]
AlphaFold Q99M04
Predicted Effect probably damaging
Transcript: ENSMUST00000031101
AA Change: V234F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031101
Gene: ENSMUSG00000029199
AA Change: V234F

DomainStartEndE-ValueType
Pfam:LIAS_N 4 110 5.8e-49 PFAM
Elp3 126 332 1.42e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122026
AA Change: V318F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113228
Gene: ENSMUSG00000029199
AA Change: V318F

DomainStartEndE-ValueType
Elp3 42 248 1.42e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199441
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele die before weaning. Embryos homozygous for a null allele become growth arrested and die at E7.5-E9.5. Embryos homozygous for an ENU allele survive to E12.5 showing a growth delay, an open neural tube, microcephaly, dilated hearts and lack of dorsal forebrain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brsk1 A G 7: 4,707,260 (GRCm39) E271G probably benign Het
Card9 A G 2: 26,246,874 (GRCm39) F325L probably benign Het
Cct8l1 T A 5: 25,722,097 (GRCm39) S271T probably benign Het
Clca3a2 A G 3: 144,800,979 (GRCm39) Y125H probably benign Het
Csn1s2b T G 5: 87,960,970 (GRCm39) S25R probably damaging Het
Dnmt1 C T 9: 20,821,476 (GRCm39) V1227I probably damaging Het
Fpr1 G A 17: 18,097,234 (GRCm39) R252W possibly damaging Het
Gm15155 T A X: 155,086,252 (GRCm39) D69E unknown Het
Hltf T C 3: 20,137,910 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,056,692 (GRCm39) I130V possibly damaging Het
Klra9 G T 6: 130,166,744 (GRCm39) S40* probably null Het
Ldoc1 C A X: 60,753,537 (GRCm39) Y74* probably null Het
Mtss1 A G 15: 58,926,932 (GRCm39) V48A possibly damaging Het
Myo9b C T 8: 71,812,286 (GRCm39) P2019L probably damaging Het
Ogdhl T C 14: 32,059,588 (GRCm39) probably benign Het
Or5b97 T C 19: 12,879,103 (GRCm39) I14V probably benign Het
Parp4 A G 14: 56,839,783 (GRCm39) D497G probably damaging Het
Pcnx3 T C 19: 5,717,504 (GRCm39) D1535G probably damaging Het
Pcx G T 19: 4,671,088 (GRCm39) K1103N probably damaging Het
Pdgfd G A 9: 6,337,327 (GRCm39) V220M probably damaging Het
Pola2 A G 19: 5,992,047 (GRCm39) S542P probably damaging Het
Ppip5k1 G A 2: 121,142,555 (GRCm39) T1278M possibly damaging Het
Pramel11 C T 4: 143,622,201 (GRCm39) D385N probably benign Het
Ralgapb T C 2: 158,262,795 (GRCm39) V11A possibly damaging Het
Rhox2f T A X: 36,753,634 (GRCm39) V124E probably benign Het
Rnf213 T C 11: 119,340,702 (GRCm39) probably null Het
Slc38a10 T C 11: 120,041,913 (GRCm39) probably benign Het
Smco1 T C 16: 32,092,704 (GRCm39) V125A probably benign Het
Tg A T 15: 66,543,200 (GRCm39) Q38L probably damaging Het
Trpv5 A T 6: 41,630,192 (GRCm39) S633T possibly damaging Het
Vmn2r97 T C 17: 19,168,073 (GRCm39) F776L probably damaging Het
Zranb3 A C 1: 127,895,676 (GRCm39) V724G possibly damaging Het
Other mutations in Lias
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02473:Lias APN 5 65,562,745 (GRCm39) missense possibly damaging 0.95
R6812_Lias_838 UTSW 5 65,566,132 (GRCm39) missense possibly damaging 0.76
R1480:Lias UTSW 5 65,549,634 (GRCm39) missense probably benign
R1677:Lias UTSW 5 65,548,981 (GRCm39) missense probably damaging 1.00
R1836:Lias UTSW 5 65,549,686 (GRCm39) missense probably benign
R4077:Lias UTSW 5 65,552,768 (GRCm39) missense probably benign 0.16
R4438:Lias UTSW 5 65,552,787 (GRCm39) missense probably damaging 1.00
R4458:Lias UTSW 5 65,551,383 (GRCm39) splice site probably null
R4710:Lias UTSW 5 65,555,070 (GRCm39) missense probably benign 0.09
R6050:Lias UTSW 5 65,551,315 (GRCm39) missense possibly damaging 0.47
R6812:Lias UTSW 5 65,566,132 (GRCm39) missense possibly damaging 0.76
R8734:Lias UTSW 5 65,561,552 (GRCm39) missense probably damaging 1.00
R8751:Lias UTSW 5 65,557,193 (GRCm39) missense probably benign 0.05
R9233:Lias UTSW 5 65,551,331 (GRCm39) missense probably benign 0.02
X0061:Lias UTSW 5 65,549,703 (GRCm39) missense probably benign 0.00
Posted On 2014-01-21