Incidental Mutation 'R8734:Lias'
ID 662911
Institutional Source Beutler Lab
Gene Symbol Lias
Ensembl Gene ENSMUSG00000029199
Gene Name lipoic acid synthetase
Synonyms 7a5ex, 2900022L22Rik, 4933425M12Rik, mLip1, MGC7254
MMRRC Submission 068582-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8734 (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 C at 65561552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 308 (Y308H)
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: Y224H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031101
Gene: ENSMUSG00000029199
AA Change: Y224H

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: Y308H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113228
Gene: ENSMUSG00000029199
AA Change: Y308H

DomainStartEndE-ValueType
Elp3 42 248 1.42e-17 SMART
Meta Mutation Damage Score 0.9718 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (61/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T A 19: 43,770,855 (GRCm39) C5S probably damaging Het
Actl6a G A 3: 32,774,104 (GRCm39) D275N probably benign Het
Ahctf1 C A 1: 179,608,430 (GRCm39) E681* probably null Het
Ankub1 G A 3: 57,599,706 (GRCm39) S21L probably benign Het
Apmap T A 2: 150,430,824 (GRCm39) K178N probably benign Het
Arhgap15 T A 2: 44,133,130 (GRCm39) N345K probably damaging Het
Armc8 A G 9: 99,402,538 (GRCm39) V379A probably benign Het
Atmin G A 8: 117,681,525 (GRCm39) D175N possibly damaging Het
Atp5pd T C 11: 115,307,689 (GRCm39) E94G possibly damaging Het
B3gnt3 G A 8: 72,146,145 (GRCm39) T128M probably damaging Het
Ccdc88c T A 12: 100,906,394 (GRCm39) T1040S probably damaging Het
Crot C T 5: 9,028,208 (GRCm39) R247Q probably benign Het
Cyp2b9 A G 7: 25,898,035 (GRCm39) probably benign Het
Dcaf8 T C 1: 172,021,427 (GRCm39) W540R probably benign Het
Galnt11 T C 5: 25,455,222 (GRCm39) I186T possibly damaging Het
Gne T A 4: 44,072,911 (GRCm39) probably benign Het
Gpr37 A T 6: 25,688,201 (GRCm39) F299I probably benign Het
Gpr37l1 C T 1: 135,095,167 (GRCm39) A26T probably benign Het
Grm4 A G 17: 27,657,765 (GRCm39) Y414H probably damaging Het
Kcnh1 T C 1: 192,188,320 (GRCm39) I954T possibly damaging Het
Lrrc27 T A 7: 138,796,515 (GRCm39) probably benign Het
Lrrc8a C T 2: 30,146,619 (GRCm39) H478Y probably benign Het
Mdh2 T A 5: 135,812,983 (GRCm39) probably benign Het
Mug1 T A 6: 121,848,340 (GRCm39) I688K probably benign Het
Nrp1 A G 8: 129,207,420 (GRCm39) D605G probably benign Het
Nt5dc3 A G 10: 86,669,863 (GRCm39) Y486C possibly damaging Het
Or5m13 T A 2: 85,748,993 (GRCm39) C241* probably null Het
Or8s16 A T 15: 98,210,954 (GRCm39) L159H probably damaging Het
Or9s23 T A 1: 92,501,121 (GRCm39) V76D possibly damaging Het
Pam A T 1: 97,762,127 (GRCm39) probably benign Het
Pcolce A G 5: 137,609,550 (GRCm39) L14P probably damaging Het
Pcsk6 T C 7: 65,581,481 (GRCm39) I254T probably benign Het
Pdzrn3 A T 6: 101,128,567 (GRCm39) C700S probably damaging Het
Pglyrp2 A G 17: 32,634,976 (GRCm39) F462S probably damaging Het
Plaat3 T A 19: 7,552,347 (GRCm39) Y21N possibly damaging Het
Plekhm1 A T 11: 103,285,778 (GRCm39) L219Q probably damaging Het
Prkch T A 12: 73,632,018 (GRCm39) S28T possibly damaging Het
Prrc2c A T 1: 162,507,081 (GRCm39) S2529R possibly damaging Het
Prss3 G T 6: 41,350,827 (GRCm39) A221D probably damaging Het
Rbm33 T A 5: 28,557,874 (GRCm39) probably benign Het
Retreg1 T C 15: 25,968,493 (GRCm39) L83S probably damaging Het
Robo2 C T 16: 73,764,651 (GRCm39) probably benign Het
Slc25a47 T A 12: 108,820,247 (GRCm39) F84I probably benign Het
Sntb2 A G 8: 107,728,320 (GRCm39) I423V probably benign Het
Spart A T 3: 55,032,300 (GRCm39) D378V possibly damaging Het
Spint2 A T 7: 28,958,835 (GRCm39) F127Y probably damaging Het
Stag3 A G 5: 138,310,050 (GRCm39) T1233A probably benign Het
Tenm3 A G 8: 48,802,391 (GRCm39) I390T probably benign Het
Tigd2 A G 6: 59,187,184 (GRCm39) D17G probably damaging Het
Tln2 C A 9: 67,179,936 (GRCm39) A812S probably benign Het
Tmem234 A G 4: 129,501,317 (GRCm39) T133A probably benign Het
Trnp1 A G 4: 133,225,380 (GRCm39) F130S possibly damaging Het
Tsr1 A G 11: 74,794,652 (GRCm39) S436G probably benign Het
Ttn T C 2: 76,541,032 (GRCm39) I33985V probably benign Het
Usp34 A C 11: 23,394,184 (GRCm39) D2278A Het
Vav3 T A 3: 109,565,285 (GRCm39) F727Y probably benign Het
Vcl T C 14: 21,060,236 (GRCm39) probably null Het
Vps13c T A 9: 67,880,685 (GRCm39) D3507E probably damaging Het
Vtn A G 11: 78,391,090 (GRCm39) probably benign Het
Zfp319 A G 8: 96,054,938 (GRCm39) S422P 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
R6812:Lias UTSW 5 65,566,132 (GRCm39) missense possibly damaging 0.76
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'- TCTCATTGGAATCCATGGCTC -3'
(R):5'- TAACAGTAAGTACCAGCGTTGC -3'

Sequencing Primer
(F):5'- AATCCATGGCTCGATGTTTTTGAATG -3'
(R):5'- AGCGTTGCTGCTCTATGC -3'
Posted On 2021-03-08