Mutagenetix > Incidental Mutation

Incidental Mutation 'R1480:Lias'

164275

Institutional Source

Beutler Lab

Gene Symbol

Lias

Ensembl Gene

ENSMUSG00000029199

Gene Name

lipoic acid synthetase

Synonyms

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

MMRRC Submission

039533-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1480 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65548840-65567766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65549634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 39 (H39Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113228 (fasta)

Gene Model

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

AlphaFold

Q99M04

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000122026
AA Change: H39Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113228
Gene: ENSMUSG00000029199
AA Change: H39Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126036

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

noncoding transcript
Transcript: ENSMUST00000147660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128074

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140879

Predicted Effect

probably benign
Transcript: ENSMUST00000150815

Predicted Effect

probably benign
Transcript: ENSMUST00000196667

Predicted Effect

probably benign
Transcript: ENSMUST00000200374

SMART Domains

Protein: ENSMUSP00000143152
Gene: ENSMUSG00000029199

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.6%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,323,409 (GRCm39)	R126C	possibly damaging	Het
Abcb9	C	A	5: 124,216,889 (GRCm39)	A443S	probably benign	Het
Adcy3	A	G	12: 4,262,171 (GRCm39)	M1074V	probably damaging	Het
Adnp	A	G	2: 168,025,454 (GRCm39)	Y614H	probably damaging	Het
Agbl4	G	A	4: 111,423,914 (GRCm39)	M313I	possibly damaging	Het
AI987944	T	C	7: 41,024,343 (GRCm39)	D212G	probably benign	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Aplp1	A	G	7: 30,135,448 (GRCm39)	S537P	probably benign	Het
Arap2	T	A	5: 62,826,472 (GRCm39)	R1031*	probably null	Het
Arid1a	A	G	4: 133,407,700 (GRCm39)	M2269T	unknown	Het
Ash1l	C	A	3: 88,892,359 (GRCm39)	P1413T	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
B3gnt5	A	T	16: 19,588,617 (GRCm39)	I279L	probably damaging	Het
Camkk2	T	C	5: 122,872,341 (GRCm39)		probably null	Het
Ccdc158	T	C	5: 92,796,903 (GRCm39)	K478E	probably damaging	Het
Ces1f	T	C	8: 94,000,782 (GRCm39)	I121V	probably benign	Het
Chad	A	T	11: 94,455,963 (GRCm39)		probably benign	Het
Col6a1	T	C	10: 76,545,752 (GRCm39)	I907V	unknown	Het
Cpe	T	A	8: 65,047,969 (GRCm39)	T432S	probably benign	Het
Csmd3	T	C	15: 47,595,325 (GRCm39)	T1941A	possibly damaging	Het
Dennd3	G	A	15: 73,404,695 (GRCm39)	V257I	probably benign	Het
Dnajc21	T	C	15: 10,460,037 (GRCm39)		probably null	Het
Dqx1	A	G	6: 83,036,433 (GRCm39)	R146G	possibly damaging	Het
Etf1	T	C	18: 35,042,276 (GRCm39)	E261G	probably damaging	Het
Fermt2	C	T	14: 45,699,244 (GRCm39)	V617I	possibly damaging	Het
Gabarap	T	C	11: 69,882,551 (GRCm39)	Y5H	probably damaging	Het
Gdap1	A	G	1: 17,215,781 (GRCm39)	Y29C	probably damaging	Het
Gimap5	A	G	6: 48,729,964 (GRCm39)	E178G	probably damaging	Het
Gpatch1	C	T	7: 35,002,763 (GRCm39)	G249E	probably damaging	Het
Gse1	T	G	8: 121,299,133 (GRCm39)		probably benign	Het
Kifc3	T	C	8: 95,836,515 (GRCm39)	D82G	probably damaging	Het
Kit	G	A	5: 75,797,977 (GRCm39)	D422N	probably benign	Het
Klhl28	A	T	12: 65,003,995 (GRCm39)	F173I	probably damaging	Het
Klk1b22	A	G	7: 43,766,278 (GRCm39)	D253G	possibly damaging	Het
Lrp1b	T	A	2: 40,793,401 (GRCm39)	D2504V	probably damaging	Het
Mgat5	A	T	1: 127,387,716 (GRCm39)	R557S	probably damaging	Het
Mrpl54	T	C	10: 81,101,489 (GRCm39)	T91A	probably benign	Het
Myh3	T	A	11: 66,984,371 (GRCm39)	D1069E	possibly damaging	Het
Nek1	T	A	8: 61,577,360 (GRCm39)		probably null	Het
Nfyc	A	C	4: 120,625,921 (GRCm39)		probably null	Het
Nol7	A	T	13: 43,552,104 (GRCm39)	E75V	probably damaging	Het
Nomo1	T	A	7: 45,710,337 (GRCm39)	V606E	probably damaging	Het
Npat	TGGTAAAA	T	9: 53,474,366 (GRCm39)		probably null	Het
Nt5c1b	A	G	12: 10,424,886 (GRCm39)	E142G	probably damaging	Het
Ogdh	A	T	11: 6,297,827 (GRCm39)		probably null	Het
Or1o4	A	G	17: 37,590,636 (GRCm39)	V225A	probably benign	Het
Parg	A	T	14: 31,931,585 (GRCm39)	K402*	probably null	Het
Patj	G	A	4: 98,357,819 (GRCm39)	G695E	probably damaging	Het
Pde3a	G	A	6: 141,433,300 (GRCm39)	S777N	probably benign	Het
Phactr2	G	A	10: 13,129,536 (GRCm39)	P174L	possibly damaging	Het
Phtf1	C	T	3: 103,894,750 (GRCm39)	R113*	probably null	Het
Pik3r4	G	T	9: 105,564,443 (GRCm39)	V1346L	probably benign	Het
Prkcb	T	C	7: 122,193,865 (GRCm39)	W525R	probably damaging	Het
Prl8a1	C	T	13: 27,758,055 (GRCm39)	R218H	possibly damaging	Het
Pum3	T	C	19: 27,376,310 (GRCm39)	E536G	probably benign	Het
Rb1	T	C	14: 73,500,042 (GRCm39)	N535S	probably benign	Het
Rbm7	G	T	9: 48,401,016 (GRCm39)	D237E	probably benign	Het
Ripor1	T	C	8: 106,342,180 (GRCm39)	V122A	probably damaging	Het
Sdhc	C	T	1: 170,973,370 (GRCm39)	R11H	probably benign	Het
Sema3c	A	G	5: 17,887,029 (GRCm39)	N360S	possibly damaging	Het
Serpinb5	T	A	1: 106,809,437 (GRCm39)	M281K	probably benign	Het
Serpinc1	A	G	1: 160,822,889 (GRCm39)	E210G	probably benign	Het
Shoc2	T	C	19: 53,976,202 (GRCm39)	S31P	probably benign	Het
Sult2a3	T	A	7: 13,856,836 (GRCm39)	N28I	possibly damaging	Het
Svil	C	T	18: 5,057,345 (GRCm39)	P598S	probably damaging	Het
Tacc3	G	A	5: 33,821,941 (GRCm39)	V234I	probably benign	Het
Tacr1	A	T	6: 82,469,511 (GRCm39)	M132L	possibly damaging	Het
Tas2r104	C	A	6: 131,662,257 (GRCm39)	V151F	probably benign	Het
Tbc1d10b	C	T	7: 126,802,950 (GRCm39)	S326N	probably benign	Het
Trim12c	C	T	7: 103,997,451 (GRCm39)	C35Y	probably damaging	Het
Trrap	T	C	5: 144,755,123 (GRCm39)	I2067T	probably benign	Het
Upk1a	T	C	7: 30,306,311 (GRCm39)	I152V	probably benign	Het
Vmn2r39	T	G	7: 9,017,955 (GRCm39)	T794P	probably damaging	Het
Wnk2	G	A	13: 49,210,708 (GRCm39)	P1704S	probably damaging	Het
Zfp609	T	C	9: 65,610,593 (GRCm39)	E790G	possibly damaging	Het
Zmym1	G	T	4: 126,942,405 (GRCm39)	T563K	probably damaging	Het
Zranb1	T	A	7: 132,551,745 (GRCm39)	F132Y	probably benign	Het
Zranb3	C	T	1: 128,019,599 (GRCm39)	A48T	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCGTGCATcagggtctctgtaatc -3'
(R):5'- aaaaaGCACAATgccaggcagtg -3'

Sequencing Primer
(F):5'- gaccaaagacgactcctcac -3'
(R):5'- tgggaggcagaggcagg -3'

Posted On

2014-03-28