Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01743:Lars2'

152942

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 #

IGL01743

Quality Score

Status

Chromosome

Chromosomal Location

123366927-123462666 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123453248 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 632 (L632F)

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: L632F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036710
Gene: ENSMUSG00000035202
AA Change: L632F

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	G	T	8: 3,364,697	C25F	probably benign	Het
Abcc6	A	T	7: 45,996,814	N750K	probably benign	Het
Ackr2	T	C	9: 121,909,500	C314R	probably benign	Het
Adar	C	T	3: 89,745,440	Q210*	probably null	Het
Aifm1	A	G	X: 48,480,276		probably benign	Het
Aldoa	G	T	7: 126,796,703	D198E	probably damaging	Het
Ampd1	T	A	3: 103,094,885		probably benign	Het
Btnl1	T	C	17: 34,385,685	I480T	probably damaging	Het
Capn9	T	C	8: 124,591,769	S125P	probably benign	Het
Cd40lg	T	A	X: 57,212,232	Y26*	probably null	Het
Cdc42bpg	G	T	19: 6,309,823		probably null	Het
Cdh10	T	C	15: 18,986,769	L362P	probably benign	Het
Dhx16	A	G	17: 35,888,108	D782G	probably damaging	Het
Dnajb14	G	T	3: 137,906,000	V320L	possibly damaging	Het
Dpy19l1	C	T	9: 24,485,069	R117Q	probably damaging	Het
Ercc6	T	C	14: 32,552,604	V568A	probably damaging	Het
Faf2	T	C	13: 54,641,498		probably null	Het
Fbrsl1	C	T	5: 110,381,640	V223M	probably damaging	Het
Fcrl5	T	C	3: 87,444,291	V282A	probably damaging	Het
Fxr2	C	T	11: 69,652,622	L650F	possibly damaging	Het
Gabrq	A	G	X: 72,836,842	M314V	probably benign	Het
Gnas	T	A	2: 174,298,332	Y157*	probably null	Het
Gtf2i	T	C	5: 134,286,893	E175G	probably damaging	Het
Gtf3c1	A	C	7: 125,663,415	Y1091D	probably damaging	Het
Heatr5b	G	A	17: 78,824,640	Q345*	probably null	Het
Hydin	T	C	8: 110,592,776	V4437A	possibly damaging	Het
Idi2	T	A	13: 8,958,542	L112Q	probably damaging	Het
Ift80	C	T	3: 68,962,296	V221M	probably benign	Het
Il16	A	G	7: 83,652,299	F205S	probably benign	Het
Irf1	T	A	11: 53,774,451	M218K	probably benign	Het
Itga8	T	C	2: 12,265,333	N114S	probably benign	Het
Itgae	T	C	11: 73,111,759	V114A	probably benign	Het
Klhdc10	A	G	6: 30,441,934		probably null	Het
Krt78	C	A	15: 101,950,898	R288L	probably benign	Het
Mpdz	T	C	4: 81,317,682	D1220G	probably damaging	Het
Msl1	C	T	11: 98,805,419	T597I	probably damaging	Het
Mtor	T	C	4: 148,530,613		probably benign	Het
Myo1b	T	C	1: 51,782,020	T435A	probably damaging	Het
Neb	A	G	2: 52,225,667	Y4176H	probably damaging	Het
Nxpe3	A	G	16: 55,849,765	F326L	probably benign	Het
Olfr532	T	C	7: 140,419,668	Y35C	probably damaging	Het
Olfr705	A	G	7: 106,714,334	S116P	possibly damaging	Het
Pak7	T	A	2: 136,087,413	R617W	probably damaging	Het
Peak1	C	A	9: 56,259,202	V481L	probably damaging	Het
Pik3ap1	G	A	19: 41,292,828		probably benign	Het
Pmm1	C	T	15: 81,960,786	E6K	probably benign	Het
Ppp2r5c	G	A	12: 110,580,434	V454M	probably benign	Het
Ptprf	C	T	4: 118,248,898		probably null	Het
Pygm	G	A	19: 6,392,994		probably null	Het
Rimbp2	T	A	5: 128,797,848		probably benign	Het
Rps6ka5	A	T	12: 100,575,633		probably null	Het
Scarb2	A	G	5: 92,460,803	V188A	probably benign	Het
Sfrp1	T	A	8: 23,412,338		probably benign	Het
Siglec15	T	A	18: 78,043,605		probably benign	Het
Smgc	A	G	15: 91,854,593	I485V	probably benign	Het
Tas2r124	A	G	6: 132,754,835	I36V	probably benign	Het
Trmt10b	G	T	4: 45,305,879	G185W	probably damaging	Het
Ttll4	A	G	1: 74,688,193	N798S	possibly damaging	Het
Ttn	G	T	2: 76,789,552	T15924N	probably damaging	Het
Utrn	A	T	10: 12,711,557	Y912N	possibly damaging	Het
Vmn2r113	T	C	17: 22,958,311	Y690H	probably benign	Het
Vmn2r51	T	C	7: 10,100,227	R295G	probably damaging	Het
Vpreb3	A	G	10: 75,948,397	T14A	probably benign	Het

Other mutations in Lars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03090:Lars2	APN	9	123455960	missense	probably damaging	1.00
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

2014-02-04