Mutagenetix > Incidental Mutation

Incidental Mutation 'R4438:Lias'

329617

Institutional Source

Beutler Lab

Gene Symbol

Lias

Ensembl Gene

ENSMUSG00000029199

Gene Name

lipoic acid synthetase

Synonyms

7a5ex, 2900022L22Rik, 4933425M12Rik, mLip1, MGC7254

MMRRC Submission

041703-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4438 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65548840-65567766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65552787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 130 (M130T)

Ref Sequence

ENSEMBL: ENSMUSP00000113228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031101] [ENSMUST00000057885] [ENSMUST00000118543] [ENSMUST00000120094] [ENSMUST00000122026] [ENSMUST00000200374] [ENSMUST00000127874]

AlphaFold

Q99M04

Predicted Effect

probably damaging
Transcript: ENSMUST00000031101
AA Change: M46T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031101
Gene: ENSMUSG00000029199
AA Change: M46T

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 damaging
Transcript: ENSMUST00000122026
AA Change: M130T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113228
Gene: ENSMUSG00000029199
AA Change: M130T

Domain	Start	End	E-Value	Type
Elp3	42	248	1.42e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139847

Predicted Effect

probably damaging
Transcript: ENSMUST00000200374
AA Change: M46T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143152
Gene: ENSMUSG00000029199
AA Change: M46T

Domain	Start	End	E-Value	Type
Blast:Elp3	2	54	5e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128074

Predicted Effect

probably benign
Transcript: ENSMUST00000196667

Predicted Effect

probably benign
Transcript: ENSMUST00000150815

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

Meta Mutation Damage Score

0.9426

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (52/52)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	T	A	2: 58,367,739 (GRCm39)	I141F	probably benign	Het
Adam6b	A	C	12: 113,454,281 (GRCm39)	Q366P	probably damaging	Het
Adck1	C	T	12: 88,397,920 (GRCm39)	Q185*	probably null	Het
Adgrb3	T	C	1: 25,870,108 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,714,466 (GRCm39)	S105P	probably damaging	Het
Asns	C	A	6: 7,675,320 (GRCm39)	A561S	probably benign	Het
Bcl2a1d	A	T	9: 88,613,753 (GRCm39)	M7K	probably benign	Het
Bst1	A	T	5: 43,982,682 (GRCm39)		probably null	Het
Cdc37l1	T	C	19: 28,985,021 (GRCm39)	F224L	probably damaging	Het
Csmd3	G	A	15: 47,763,191 (GRCm39)	T1215I	possibly damaging	Het
Csnk1e	A	T	15: 79,305,129 (GRCm39)	S323T	probably benign	Het
Cyp2j7	G	T	4: 96,105,646 (GRCm39)	T288K	probably benign	Het
Dnaaf5	T	A	5: 139,149,147 (GRCm39)	I482N	probably damaging	Het
Dpy19l3	A	G	7: 35,392,284 (GRCm39)	I636T	probably damaging	Het
Enpep	T	G	3: 129,077,740 (GRCm39)	T626P	possibly damaging	Het
Fgfr2	G	A	7: 129,774,660 (GRCm39)	R509*	probably null	Het
Gm5849	T	A	3: 90,685,182 (GRCm39)	K1M	probably null	Het
Gpr83	T	C	9: 14,776,134 (GRCm39)	Y152H	probably damaging	Het
Hdac7	T	C	15: 97,705,596 (GRCm39)	E400G	probably damaging	Het
Hypk	A	T	2: 121,288,475 (GRCm39)	E82V	probably damaging	Het
Iqub	C	A	6: 24,505,867 (GRCm39)	A14S	probably benign	Het
Lingo4	T	C	3: 94,310,204 (GRCm39)	S381P	possibly damaging	Het
Mdn1	A	G	4: 32,704,635 (GRCm39)	T1536A	probably damaging	Het
Moxd2	T	A	6: 40,860,996 (GRCm39)	D265V	probably damaging	Het
Mtbp	C	A	15: 55,466,611 (GRCm39)	S541R	probably benign	Het
Or10j27	C	A	1: 172,957,869 (GRCm39)	C305F	probably benign	Het
Or2a54	T	C	6: 43,093,221 (GRCm39)	S182P	probably benign	Het
Or4k15b	T	C	14: 50,272,287 (GRCm39)	D191G	probably damaging	Het
Pcsk9	G	T	4: 106,316,156 (GRCm39)	Q96K	probably benign	Het
Pramel14	T	C	4: 143,718,192 (GRCm39)	Y417C	probably damaging	Het
Rln1	A	T	19: 29,311,962 (GRCm39)	F12Y	possibly damaging	Het
Setd1a	A	G	7: 127,384,903 (GRCm39)	N585D	possibly damaging	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Smarcal1	T	C	1: 72,650,637 (GRCm39)		probably benign	Het
Snx19	G	T	9: 30,339,895 (GRCm39)	L344F	probably benign	Het
Srfbp1	T	C	18: 52,621,403 (GRCm39)	C155R	probably benign	Het
Sspo	C	T	6: 48,464,287 (GRCm39)	R3914C	probably damaging	Het
Tacc2	G	A	7: 130,225,271 (GRCm39)	S652N	probably damaging	Het
Tmub1	A	C	5: 24,651,068 (GRCm39)	L197R	probably damaging	Het
Tnc	T	C	4: 63,926,066 (GRCm39)	T905A	possibly damaging	Het
Tnfrsf21	G	T	17: 43,398,733 (GRCm39)	R613L	possibly damaging	Het
Ugt3a1	A	T	15: 9,351,283 (GRCm39)	E97D	probably benign	Het
Vmn2r25	A	G	6: 123,816,756 (GRCm39)	I275T	probably benign	Het
Zfp1010	T	G	2: 176,956,889 (GRCm39)	Q203P	possibly damaging	Het
Zfp568	G	T	7: 29,721,721 (GRCm39)	C221F	probably benign	Het
Zfp91	C	A	19: 12,755,385 (GRCm39)	E217*	probably null	Het
Zswim3	T	A	2: 164,662,563 (GRCm39)	C348S	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
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

Predicted Primers

PCR Primer
(F):5'- CTTAACCACTGAGCCATCTATCCAG -3'
(R):5'- CGCCAAAGAGTTCGACATCAG -3'

Sequencing Primer
(F):5'- GCCATCTATCCAGCCCTAATAAAAG -3'
(R):5'- GTTCGACATCAGATACTAATATGTGG -3'

Posted On

2015-07-21