Incidental Mutation 'R4458:Lias'
ID |
329999 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lias
|
Ensembl Gene |
ENSMUSG00000029199 |
Gene Name |
lipoic acid synthetase |
Synonyms |
7a5ex, 2900022L22Rik, 4933425M12Rik, mLip1, MGC7254 |
MMRRC Submission |
041718-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4458 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
65548840-65567766 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 65551383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143152
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031101]
[ENSMUST00000057885]
[ENSMUST00000118543]
[ENSMUST00000120094]
[ENSMUST00000122026]
[ENSMUST00000200374]
[ENSMUST00000200374]
[ENSMUST00000127874]
|
AlphaFold |
Q99M04 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031101
|
SMART Domains |
Protein: ENSMUSP00000031101 Gene: ENSMUSG00000029199
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: ENSMUST00000057885
|
SMART Domains |
Protein: ENSMUSP00000109399 Gene: ENSMUSG00000047215
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L6
|
12 |
87 |
8.1e-18 |
PFAM |
Pfam:Ribosomal_L6
|
99 |
178 |
7.4e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118543
|
SMART Domains |
Protein: ENSMUSP00000113391 Gene: ENSMUSG00000047215
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L6
|
12 |
87 |
1.1e-19 |
PFAM |
Pfam:Ribosomal_L6
|
99 |
165 |
1.5e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120094
|
SMART Domains |
Protein: ENSMUSP00000113704 Gene: ENSMUSG00000047215
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L6
|
12 |
87 |
3e-17 |
PFAM |
Pfam:Ribosomal_L6
|
99 |
178 |
2.9e-16 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122026
|
SMART Domains |
Protein: ENSMUSP00000113228 Gene: ENSMUSG00000029199
Domain | Start | End | E-Value | Type |
Elp3
|
42 |
248 |
1.42e-17 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126036
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139847
|
Predicted Effect |
probably null
Transcript: ENSMUST00000200374
|
SMART Domains |
Protein: ENSMUSP00000143152 Gene: ENSMUSG00000029199
Domain | Start | End | E-Value | Type |
Blast:Elp3
|
2 |
54 |
5e-18 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000200374
|
SMART Domains |
Protein: ENSMUSP00000143152 Gene: ENSMUSG00000029199
Domain | Start | End | E-Value | Type |
Blast:Elp3
|
2 |
54 |
5e-18 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147966
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127519
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140879
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128074
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127874
|
SMART Domains |
Protein: ENSMUSP00000115577 Gene: ENSMUSG00000047215
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L6
|
12 |
80 |
3.2e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150815
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196667
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630076J17Rik |
G |
A |
3: 107,139,997 (GRCm39) |
|
probably null |
Het |
Akap13 |
A |
G |
7: 75,389,213 (GRCm39) |
D2377G |
probably damaging |
Het |
Ankrd44 |
A |
T |
1: 54,801,550 (GRCm39) |
I56N |
possibly damaging |
Het |
Apob |
T |
A |
12: 8,065,445 (GRCm39) |
I4105N |
probably damaging |
Het |
Arhgap5 |
T |
A |
12: 52,564,740 (GRCm39) |
N570K |
probably benign |
Het |
Arid1b |
A |
T |
17: 5,293,191 (GRCm39) |
Q703L |
probably damaging |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Cad |
T |
A |
5: 31,218,570 (GRCm39) |
V499D |
probably damaging |
Het |
Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
Celsr2 |
A |
C |
3: 108,302,313 (GRCm39) |
I2605S |
probably damaging |
Het |
Chd6 |
T |
A |
2: 160,871,796 (GRCm39) |
Y213F |
possibly damaging |
Het |
Clec18a |
T |
A |
8: 111,802,102 (GRCm39) |
T296S |
probably damaging |
Het |
Crybg2 |
C |
T |
4: 133,802,205 (GRCm39) |
P1122S |
probably benign |
Het |
Cyld |
G |
T |
8: 89,445,929 (GRCm39) |
S309I |
probably benign |
Het |
Dctn5 |
G |
T |
7: 121,734,303 (GRCm39) |
R49L |
probably damaging |
Het |
Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
Erbin |
C |
A |
13: 103,970,065 (GRCm39) |
V1184F |
probably damaging |
Het |
Ercc2 |
G |
T |
7: 19,127,771 (GRCm39) |
R406L |
probably damaging |
Het |
Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
Flad1 |
T |
C |
3: 89,316,241 (GRCm39) |
H107R |
probably benign |
Het |
Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
Gabbr1 |
G |
T |
17: 37,378,667 (GRCm39) |
|
probably null |
Het |
Haghl |
A |
T |
17: 26,003,994 (GRCm39) |
V30E |
probably damaging |
Het |
Itga5 |
C |
T |
15: 103,258,630 (GRCm39) |
E822K |
probably damaging |
Het |
Klhl26 |
T |
A |
8: 70,905,342 (GRCm39) |
E108D |
possibly damaging |
Het |
Kpnb1 |
A |
T |
11: 97,059,996 (GRCm39) |
L558Q |
probably damaging |
Het |
Ltbp1 |
A |
T |
17: 75,583,502 (GRCm39) |
K434M |
possibly damaging |
Het |
Marchf1 |
C |
A |
8: 66,908,823 (GRCm39) |
A177E |
probably damaging |
Het |
Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
Nol4 |
T |
C |
18: 22,885,052 (GRCm39) |
I419V |
probably damaging |
Het |
Nol6 |
A |
G |
4: 41,115,888 (GRCm39) |
L1068P |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,606,513 (GRCm39) |
S420P |
probably damaging |
Het |
Or10c1 |
A |
T |
17: 37,522,204 (GRCm39) |
I180N |
possibly damaging |
Het |
Pitpnm2 |
T |
C |
5: 124,259,439 (GRCm39) |
T1299A |
probably benign |
Het |
Prdm16 |
A |
G |
4: 154,406,765 (GRCm39) |
V1220A |
probably benign |
Het |
Saraf |
T |
C |
8: 34,621,870 (GRCm39) |
S25P |
unknown |
Het |
Serpine3 |
C |
A |
14: 62,911,922 (GRCm39) |
L295I |
probably damaging |
Het |
Sntb2 |
G |
A |
8: 107,718,239 (GRCm39) |
|
probably null |
Het |
Surf6 |
T |
C |
2: 26,782,721 (GRCm39) |
E202G |
probably benign |
Het |
Tent5a |
T |
C |
9: 85,208,527 (GRCm39) |
I99V |
possibly damaging |
Het |
Th |
A |
T |
7: 142,450,690 (GRCm39) |
D135E |
probably benign |
Het |
Traf1 |
A |
G |
2: 34,835,445 (GRCm39) |
Y326H |
probably damaging |
Het |
Tshz2 |
G |
A |
2: 169,727,008 (GRCm39) |
A66T |
probably benign |
Het |
Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
Ubqlnl |
A |
G |
7: 103,798,396 (GRCm39) |
V367A |
probably benign |
Het |
Uspl1 |
T |
A |
5: 149,150,962 (GRCm39) |
S707T |
possibly damaging |
Het |
Utp18 |
A |
G |
11: 93,761,359 (GRCm39) |
S350P |
possibly damaging |
Het |
Vmn1r177 |
A |
G |
7: 23,565,645 (GRCm39) |
V77A |
possibly damaging |
Het |
Vmn1r229 |
A |
G |
17: 21,034,894 (GRCm39) |
I46M |
probably damaging |
Het |
Vnn3 |
T |
C |
10: 23,741,567 (GRCm39) |
Y291H |
probably benign |
Het |
Vps9d1 |
A |
G |
8: 123,974,487 (GRCm39) |
S267P |
probably benign |
Het |
Wrn |
T |
A |
8: 33,785,026 (GRCm39) |
T692S |
probably damaging |
Het |
Yeats2 |
T |
C |
16: 20,032,071 (GRCm39) |
I19T |
probably damaging |
Het |
Zfp13 |
G |
A |
17: 23,800,150 (GRCm39) |
A36V |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGTTGAGTTAGTTCAGAAACAC -3'
(R):5'- TTGGTCTCATCTGGCACCAC -3'
Sequencing Primer
(F):5'- AAGGCTATGCTGGGAAACTGC -3'
(R):5'- ATCCAAGCACCCAGGAAGTTAGG -3'
|
Posted On |
2015-07-21 |