Incidental Mutation 'R6812:Lias'
ID 533838
Institutional Source Beutler Lab
Gene Symbol Lias
Ensembl Gene ENSMUSG00000029199
Gene Name lipoic acid synthetase
Synonyms 7a5ex, 2900022L22Rik, 4933425M12Rik, mLip1, MGC7254
MMRRC Submission 044924-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6812 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 65548840-65567766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65566132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 373 (V373E)
Ref Sequence ENSEMBL: ENSMUSP00000113228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031101] [ENSMUST00000031103] [ENSMUST00000122026]
AlphaFold Q99M04
Predicted Effect possibly damaging
Transcript: ENSMUST00000031101
AA Change: V289E

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031101
Gene: ENSMUSG00000029199
AA Change: V289E

DomainStartEndE-ValueType
Pfam:LIAS_N 4 110 5.8e-49 PFAM
Elp3 126 332 1.42e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000031103
SMART Domains Protein: ENSMUSP00000031103
Gene: ENSMUSG00000029201

DomainStartEndE-ValueType
Pfam:UDPG_MGDP_dh_N 5 195 1.5e-63 PFAM
Pfam:UDPG_MGDP_dh 214 309 1.8e-34 PFAM
UDPG_MGDP_dh_C 332 447 1.89e-38 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000122026
AA Change: V373E

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113228
Gene: ENSMUSG00000029199
AA Change: V373E

DomainStartEndE-ValueType
Elp3 42 248 1.42e-17 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 97.4%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 C T 16: 56,616,161 (GRCm39) probably benign Het
Ak9 A T 10: 41,243,163 (GRCm39) M686L unknown Het
Ap3b1 A T 13: 94,616,369 (GRCm39) T757S unknown Het
Apob A T 12: 8,033,062 (GRCm39) K139N probably damaging Het
Arid4a A G 12: 71,094,037 (GRCm39) E270G possibly damaging Het
Atp1a2 A T 1: 172,112,444 (GRCm39) C515S probably benign Het
Bicd1 T C 6: 149,311,035 (GRCm39) Y37H probably damaging Het
Birc2 T G 9: 7,854,418 (GRCm39) D424A probably damaging Het
Ccdc97 A T 7: 25,412,469 (GRCm39) F324L probably damaging Het
Crim1 T A 17: 78,623,029 (GRCm39) I409N probably damaging Het
Cul7 T A 17: 46,972,335 (GRCm39) I1233N probably benign Het
Dcaf1 T C 9: 106,735,268 (GRCm39) S739P probably damaging Het
Ddb1 T C 19: 10,599,863 (GRCm39) probably null Het
Dennd5b T C 6: 148,982,630 (GRCm39) probably benign Het
Dna2 A G 10: 62,795,120 (GRCm39) S464G probably benign Het
Dnah9 C T 11: 65,872,155 (GRCm39) V2692M probably damaging Het
Dvl2 T C 11: 69,891,821 (GRCm39) Y55H probably damaging Het
Eif4g3 G T 4: 137,830,687 (GRCm39) Q140H probably damaging Het
Enpp5 G A 17: 44,396,467 (GRCm39) V460M probably benign Het
Etv2 G T 7: 30,333,426 (GRCm39) C265* probably null Het
F12 T C 13: 55,569,658 (GRCm39) E146G probably damaging Het
Fdps C A 3: 89,001,783 (GRCm39) E301D possibly damaging Het
Fsd2 G T 7: 81,184,837 (GRCm39) H686Q probably benign Het
Gk5 T C 9: 96,032,802 (GRCm39) S262P probably damaging Het
Gm20730 A G 6: 43,058,722 (GRCm39) V30A probably benign Het
Gpr68 C A 12: 100,844,670 (GRCm39) E291D probably damaging Het
Gucy2c A G 6: 136,674,993 (GRCm39) V1006A probably benign Het
Itgb1 T A 8: 129,431,891 (GRCm39) probably null Het
Kif2a A T 13: 107,106,259 (GRCm39) D570E probably benign Het
Krt8 G T 15: 101,906,414 (GRCm39) A365D probably damaging Het
Mpl A G 4: 118,312,461 (GRCm39) V169A probably benign Het
Myh3 T A 11: 66,977,228 (GRCm39) I319N probably damaging Het
Myrfl T A 10: 116,668,818 (GRCm39) K315I probably damaging Het
Nrap T C 19: 56,340,108 (GRCm39) D803G probably damaging Het
Obi1 A G 14: 104,747,868 (GRCm39) V40A unknown Het
Or5b119 T C 19: 13,456,975 (GRCm39) T196A probably benign Het
Pald1 A G 10: 61,178,701 (GRCm39) S536P possibly damaging Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Prkaa2 T A 4: 104,904,349 (GRCm39) T243S probably benign Het
Prrc2b T A 2: 32,103,153 (GRCm39) V877D probably benign Het
Rbm27 T A 18: 42,466,468 (GRCm39) probably null Het
Rbm48 A G 5: 3,646,105 (GRCm39) V33A probably benign Het
Rev3l G T 10: 39,699,544 (GRCm39) R1347L probably benign Het
Rtp3 A G 9: 110,816,180 (GRCm39) F124L probably benign Het
Ryr3 C T 2: 112,777,251 (GRCm39) G302D probably damaging Het
Scnn1a A G 6: 125,314,819 (GRCm39) N314S probably benign Het
Sik3 C T 9: 46,122,067 (GRCm39) R907W probably damaging Het
Sox5 C T 6: 144,062,169 (GRCm39) probably null Het
Tmc1 A C 19: 20,878,225 (GRCm39) L90R probably damaging Het
Tmtc2 A G 10: 105,249,130 (GRCm39) V201A probably benign Het
Uvrag T A 7: 98,537,689 (GRCm39) H502L probably benign Het
Vwa8 T A 14: 79,434,859 (GRCm39) I1760N probably damaging Het
Zfp318 G GAAGAAT 17: 46,723,468 (GRCm39) probably benign Het
Zfp772 T C 7: 7,209,307 (GRCm39) D61G possibly damaging Het
Other mutations in Lias
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01704:Lias APN 5 65,562,673 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCCTTTGAAATCTGAGATGAGGG -3'
(R):5'- CACTAAATGTGTGTCGTTTACAGG -3'

Sequencing Primer
(F):5'- TCTGAGATGAGGGAAGTGCCTG -3'
(R):5'- TCGTTTACAGGGTTATAGGCTTC -3'
Posted On 2018-09-12