Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03090:Lars2'

418322

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lars2

Ensembl Gene

ENSMUSG00000035202

Gene Name

leucyl-tRNA synthetase, mitochondrial

Synonyms

Kiaa0028

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03090

Quality Score

Status

Chromosome

Chromosomal Location

123366927-123462666 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 123455960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 786 (M786R)

Ref Sequence

ENSEMBL: ENSMUSP00000036710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038863] [ENSMUST00000217116]

AlphaFold

Q8VDC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038863
AA Change: M786R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036710
Gene: ENSMUSG00000035202
AA Change: M786R

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1	57	223	7.6e-24	PFAM
Pfam:tRNA-synt_1g	83	239	9.3e-20	PFAM
Pfam:tRNA-synt_1_2	269	430	1.1e-8	PFAM
Pfam:tRNA-synt_1	434	609	5.6e-8	PFAM
Pfam:tRNA-synt_1g	589	682	1.2e-6	PFAM
Pfam:tRNA-synt_1	633	678	1.6e-7	PFAM
Pfam:Anticodon_1	724	867	9.2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213711

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215087

Predicted Effect

probably benign
Transcript: ENSMUST00000217116

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	G	8: 40,794,928	Y25C	probably benign	Het
Agap3	A	C	5: 24,501,206	T823P	possibly damaging	Het
Arap3	T	C	18: 37,989,112	E641G	probably benign	Het
Armc6	C	T	8: 70,231,354	R16Q	probably benign	Het
Asb15	T	A	6: 24,567,186	I502K	possibly damaging	Het
Atp8b3	T	A	10: 80,530,604	N275I	probably damaging	Het
BC022687	T	C	12: 112,815,720		probably null	Het
Calr	G	A	8: 84,846,744	P19S	possibly damaging	Het
Cdc6	T	A	11: 98,919,296	L477*	probably null	Het
Cnnm4	A	G	1: 36,471,871	D60G	probably benign	Het
Col12a1	G	T	9: 79,678,370	Q1242K	probably damaging	Het
Dusp18	T	A	11: 3,897,466	I152N	probably damaging	Het
Eef1akmt1	T	C	14: 57,558,086	T69A	probably damaging	Het
Efhb	T	C	17: 53,462,930	Q117R	probably benign	Het
Fancd2	T	A	6: 113,537,597		probably null	Het
Fat3	C	T	9: 16,377,239	W329*	probably null	Het
Frem3	A	G	8: 80,618,229	Y1727C	probably benign	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gatb	C	A	3: 85,619,023		probably benign	Het
Gpr33	A	T	12: 52,024,026	S77T	probably damaging	Het
Gramd1c	A	T	16: 43,982,100	D649E	probably benign	Het
Herc2	T	A	7: 56,204,473	L3745H	probably damaging	Het
Klk11	T	A	7: 43,777,553	M87K	probably benign	Het
Krt39	T	G	11: 99,519,007		probably benign	Het
Lamc3	T	A	2: 31,908,698		probably benign	Het
Lmcd1	T	A	6: 112,310,499	S49T	probably benign	Het
Lrba	T	C	3: 86,773,141	Y2689H	probably benign	Het
Map3k6	T	C	4: 133,243,366	V188A	probably benign	Het
Mbd6	A	C	10: 127,287,144	L49W	probably damaging	Het
Myo5a	A	T	9: 75,120,833	Y100F	probably damaging	Het
Myo9a	T	A	9: 59,894,135		probably benign	Het
Ncoa7	T	C	10: 30,662,400	D663G	probably damaging	Het
Nup214	A	T	2: 32,018,242	M1075L	probably benign	Het
Pkd1l3	C	A	8: 109,655,533	Y240*	probably null	Het
Pomk	T	A	8: 25,983,310	N205I	probably damaging	Het
Sdr16c5	A	G	4: 4,006,575		probably benign	Het
Setd1a	A	G	7: 127,786,500	E250G	possibly damaging	Het
Slc26a6	A	G	9: 108,860,691	E541G	probably benign	Het
Slc4a3	A	G	1: 75,555,017	E876G	probably benign	Het
Srrm4	A	G	5: 116,449,584		probably benign	Het
Stx12	A	G	4: 132,863,229	V119A	probably benign	Het
Tmem8b	T	A	4: 43,689,721	S333T	probably damaging	Het
Usp31	T	C	7: 121,679,530		probably benign	Het
Utp18	T	C	11: 93,868,419	R410G	probably damaging	Het
Vmn1r172	T	C	7: 23,660,038	I116T	probably damaging	Het
Vwa8	T	A	14: 78,934,601	L274Q	possibly damaging	Het
Wdfy3	A	T	5: 101,866,276	F2655I	probably damaging	Het
Zfp423	A	T	8: 87,781,443	Y737N	probably damaging	Het
Zyx	C	A	6: 42,357,342	S500*	probably null	Het

Other mutations in Lars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Lars2	APN	9	123453248	missense	probably damaging	0.98
IGL01993:Lars2	APN	9	123394943	splice site	probably benign
IGL02155:Lars2	APN	9	123454982	missense	probably damaging	0.99
IGL02941:Lars2	APN	9	123459585	missense	probably damaging	0.97
IGL03271:Lars2	APN	9	123459484	splice site	probably null
IGL03386:Lars2	APN	9	123453390	nonsense	probably null
IGL03410:Lars2	APN	9	123418776	missense	possibly damaging	0.87
ulrich	UTSW	9	123418693	missense	probably damaging	0.99
K3955:Lars2	UTSW	9	123377777	missense	probably damaging	1.00
P0038:Lars2	UTSW	9	123377777	missense	probably damaging	1.00
R0276:Lars2	UTSW	9	123438121	splice site	probably benign
R1671:Lars2	UTSW	9	123418279	missense	probably benign	0.02
R1829:Lars2	UTSW	9	123431917	missense	probably benign	0.00
R2219:Lars2	UTSW	9	123418780	missense	probably damaging	0.98
R2220:Lars2	UTSW	9	123418780	missense	probably damaging	0.98
R4610:Lars2	UTSW	9	123418693	missense	probably damaging	0.99
R5027:Lars2	UTSW	9	123441495	missense	probably benign	0.38
R5195:Lars2	UTSW	9	123453310	missense	probably damaging	0.97
R5597:Lars2	UTSW	9	123454982	missense	probably damaging	0.99
R5756:Lars2	UTSW	9	123438199	missense	probably damaging	1.00
R5783:Lars2	UTSW	9	123461596	missense	probably benign
R6045:Lars2	UTSW	9	123371988	missense	probably damaging	1.00
R6235:Lars2	UTSW	9	123411880	missense	probably damaging	1.00
R6323:Lars2	UTSW	9	123441594	nonsense	probably null
R6377:Lars2	UTSW	9	123454760	missense	probably benign	0.00
R6395:Lars2	UTSW	9	123371925	missense	probably benign	0.06
R7094:Lars2	UTSW	9	123459585	missense	probably damaging	0.99
R7144:Lars2	UTSW	9	123431993	missense	probably damaging	1.00
R7233:Lars2	UTSW	9	123411954	nonsense	probably null
R7254:Lars2	UTSW	9	123454963	missense	possibly damaging	0.93
R7350:Lars2	UTSW	9	123427480	missense	probably damaging	1.00
R7413:Lars2	UTSW	9	123459503	missense	probably benign	0.30
R7614:Lars2	UTSW	9	123395111	missense
R7683:Lars2	UTSW	9	123377830	critical splice donor site	probably null
R8000:Lars2	UTSW	9	123436244	missense	probably damaging	1.00
R8061:Lars2	UTSW	9	123459497	missense	probably benign
R8355:Lars2	UTSW	9	123454715	missense	probably damaging	1.00
R8364:Lars2	UTSW	9	123411954	nonsense	probably null
R8818:Lars2	UTSW	9	123392827	missense	possibly damaging	0.94
R9007:Lars2	UTSW	9	123431915	nonsense	probably null
R9351:Lars2	UTSW	9	123436301	missense	probably benign	0.38
Z1177:Lars2	UTSW	9	123454782	missense	probably damaging	1.00

Posted On

2016-08-02