Incidental Mutation 'IGL02473:Lias'
| ID |
294832 |
| 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 # |
IGL02473
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
65548840-65567766 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65562745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 258
(T258A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031101]
[ENSMUST00000122026]
|
| AlphaFold |
Q99M04 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031101
AA Change: T258A
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031101
Gene: ENSMUSG00000029199
AA Change: T258A
| 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 benign
Transcript: ENSMUST00000122026
AA Change: T342A
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113228
Gene: ENSMUSG00000029199
AA Change: T342A
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730480H06Rik |
G |
A |
5: 48,545,440 (GRCm39) |
|
probably benign |
Het |
| 9030624G23Rik |
A |
G |
12: 24,094,853 (GRCm39) |
F106S |
probably benign |
Het |
| A930011G23Rik |
T |
C |
5: 99,370,854 (GRCm39) |
Y468C |
probably damaging |
Het |
| Abcd3 |
T |
C |
3: 121,562,893 (GRCm39) |
T515A |
possibly damaging |
Het |
| Acrbp |
A |
G |
6: 125,031,661 (GRCm39) |
T321A |
probably benign |
Het |
| Aldh2 |
T |
C |
5: 121,710,141 (GRCm39) |
Y398C |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,790,407 (GRCm39) |
D602V |
probably benign |
Het |
| Ccdc191 |
T |
C |
16: 43,777,257 (GRCm39) |
V714A |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cntn2 |
A |
G |
1: 132,446,069 (GRCm39) |
L839P |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,377,304 (GRCm39) |
I428V |
possibly damaging |
Het |
| Dnah7b |
A |
T |
1: 46,273,353 (GRCm39) |
T2494S |
probably damaging |
Het |
| Dnaja3 |
T |
A |
16: 4,519,104 (GRCm39) |
Y348* |
probably null |
Het |
| Dnajb3 |
C |
A |
1: 88,133,104 (GRCm39) |
E99D |
probably benign |
Het |
| Igf2bp3 |
A |
G |
6: 49,071,163 (GRCm39) |
F411L |
probably benign |
Het |
| L3mbtl4 |
A |
T |
17: 68,866,772 (GRCm39) |
Y337F |
possibly damaging |
Het |
| Lipk |
T |
A |
19: 34,016,548 (GRCm39) |
C254S |
probably damaging |
Het |
| Map4k1 |
T |
C |
7: 28,699,297 (GRCm39) |
L596S |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,597,385 (GRCm39) |
E703G |
possibly damaging |
Het |
| Mreg |
A |
G |
1: 72,201,495 (GRCm39) |
Y166H |
probably damaging |
Het |
| Or2f1b |
A |
G |
6: 42,739,640 (GRCm39) |
Y218C |
probably damaging |
Het |
| Or4b1b |
T |
C |
2: 90,112,040 (GRCm39) |
K293R |
probably null |
Het |
| Pcgf2 |
A |
G |
11: 97,582,747 (GRCm39) |
|
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,638,805 (GRCm39) |
|
probably null |
Het |
| Rnf111 |
A |
G |
9: 70,348,140 (GRCm39) |
V810A |
probably damaging |
Het |
| Rpl23a-ps1 |
A |
T |
1: 46,020,951 (GRCm39) |
|
noncoding transcript |
Het |
| Smc3 |
C |
A |
19: 53,624,879 (GRCm39) |
A779E |
probably benign |
Het |
| Smtn |
C |
T |
11: 3,482,463 (GRCm39) |
G140D |
probably damaging |
Het |
| Son |
T |
C |
16: 91,455,683 (GRCm39) |
S1477P |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,991,722 (GRCm39) |
D20G |
possibly damaging |
Het |
| Tektl1 |
A |
T |
10: 78,586,428 (GRCm39) |
S208T |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,936,736 (GRCm39) |
L2798P |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,775,896 (GRCm39) |
N1715K |
probably damaging |
Het |
| Vps33a |
A |
T |
5: 123,707,634 (GRCm39) |
I111N |
probably damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zscan4d |
A |
T |
7: 10,896,336 (GRCm39) |
C345S |
probably benign |
Het |
|
| Other mutations in Lias |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01704:Lias
|
APN |
5 |
65,562,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation