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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |