Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01397:Lars1'

79512

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lars1

Ensembl Gene

ENSMUSG00000024493

Gene Name

leucyl-tRNA synthetase 1

Synonyms

3110009L02Rik, 2310045K21Rik, Lars

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01397

Quality Score

Status

Chromosome

Chromosomal Location

42335363-42395259 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42361094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 691 (H691Q)

Ref Sequence

ENSEMBL: ENSMUSP00000095197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097590]

AlphaFold

Q8BMJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000097590
AA Change: H691Q

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

SMART Domains

Protein: ENSMUSP00000095197
Gene: ENSMUSG00000024493
AA Change: H691Q

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1	19	112	5.8e-12	PFAM
Pfam:tRNA-synt_1g	48	114	3.5e-7	PFAM
low complexity region	141	157	N/A	INTRINSIC
Pfam:tRNA-synt_1	173	758	3.6e-26	PFAM
Pfam:tRNA-synt_1g	632	764	1e-9	PFAM
Pfam:tRNA-synt_1e	660	761	2.8e-7	PFAM
Pfam:Anticodon_1	796	930	3e-18	PFAM
Blast:IL1	950	1086	4e-37	BLAST

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 cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in affected individuals with infantile liver failure syndrome 1. Alternatively spliced transcript variants of this gene have been observed. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	C	2: 127,876,811 (GRCm39)	T436P	possibly damaging	Het
Afap1	T	A	5: 36,126,052 (GRCm39)	V349E	probably damaging	Het
Arfgef1	C	T	1: 10,229,796 (GRCm39)	V1302I	probably benign	Het
Atp11a	T	A	8: 12,862,321 (GRCm39)	W58R	probably damaging	Het
Brpf3	A	T	17: 29,036,606 (GRCm39)	K670N	probably benign	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cenpp	T	C	13: 49,794,759 (GRCm39)	D136G	probably damaging	Het
Cep85	T	C	4: 133,883,517 (GRCm39)	E124G	probably damaging	Het
Crybb3	T	C	5: 113,227,701 (GRCm39)	E40G	probably damaging	Het
Dennd2d	G	T	3: 106,394,365 (GRCm39)		probably null	Het
Dhx34	A	G	7: 15,944,468 (GRCm39)	L582P	probably damaging	Het
Dst	A	G	1: 34,296,825 (GRCm39)	K5738R	probably damaging	Het
Eif4g1	T	A	16: 20,498,425 (GRCm39)	L328Q	probably damaging	Het
Eya4	T	C	10: 23,015,897 (GRCm39)	K357E	probably benign	Het
F8	A	G	X: 74,423,145 (GRCm39)	S25P	probably benign	Het
Fgd2	A	G	17: 29,586,949 (GRCm39)	E293G	probably damaging	Het
Foxi1	T	A	11: 34,157,599 (GRCm39)	Q142L	probably damaging	Het
Gfm1	A	G	3: 67,350,991 (GRCm39)	E316G	probably benign	Het
Glb1l3	C	T	9: 26,736,491 (GRCm39)	D524N	probably benign	Het
Heatr5a	A	T	12: 51,941,152 (GRCm39)	V1366D	possibly damaging	Het
Idh1	T	C	1: 65,207,754 (GRCm39)	T142A	possibly damaging	Het
Lamc1	C	A	1: 153,126,880 (GRCm39)	G422V	probably damaging	Het
Ltbp2	T	C	12: 84,837,042 (GRCm39)	Y1259C	probably damaging	Het
Muc19	T	A	15: 91,778,498 (GRCm39)		noncoding transcript	Het
Nphs1	A	G	7: 30,186,089 (GRCm39)	D1240G	probably benign	Het
Or3a1b	T	A	11: 74,012,590 (GRCm39)	N158K	probably damaging	Het
Or5w1	A	T	2: 87,487,249 (GRCm39)	N5K	probably damaging	Het
Pabir2	G	A	X: 52,349,088 (GRCm39)	T121I	probably damaging	Het
Parp14	T	C	16: 35,679,098 (GRCm39)	N290S	probably benign	Het
Pex5l	G	A	3: 33,006,746 (GRCm39)	T541I	probably damaging	Het
Plch1	A	C	3: 63,639,150 (GRCm39)		probably null	Het
Ppp4r3b	C	T	11: 29,163,594 (GRCm39)	A722V	probably benign	Het
Ptges3	T	C	10: 127,906,069 (GRCm39)	S85P	probably benign	Het
R3hdm2	C	T	10: 127,294,719 (GRCm39)	R201W	probably damaging	Het
Rcan2	C	A	17: 44,147,359 (GRCm39)	Q66K	possibly damaging	Het
Skint4	A	G	4: 111,977,207 (GRCm39)	N199S	possibly damaging	Het
Smc4	A	G	3: 68,938,877 (GRCm39)	T951A	probably benign	Het
Smg1	A	T	7: 117,762,444 (GRCm39)		probably benign	Het
Snx30	T	C	4: 59,894,526 (GRCm39)	V368A	probably benign	Het
Spata31d1a	C	T	13: 59,849,552 (GRCm39)	A859T	probably damaging	Het
Tg	G	A	15: 66,567,941 (GRCm39)		probably benign	Het
Tmem132b	T	C	5: 125,775,792 (GRCm39)	V422A	probably benign	Het
Tnxb	T	C	17: 34,933,647 (GRCm39)	S2356P	probably damaging	Het
Vmn1r122	A	G	7: 20,867,707 (GRCm39)	V116A	possibly damaging	Het
Washc2	A	G	6: 116,224,959 (GRCm39)	D683G	probably benign	Het
Wdr35	C	A	12: 9,058,550 (GRCm39)	T580K	probably benign	Het
Wwc2	T	A	8: 48,321,311 (GRCm39)	N601I	unknown	Het

Other mutations in Lars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Lars1	APN	18	42,362,719 (GRCm39)	missense	probably damaging	0.99
IGL01340:Lars1	APN	18	42,335,642 (GRCm39)	missense	probably benign	0.01
IGL01510:Lars1	APN	18	42,375,174 (GRCm39)	missense	probably benign
IGL01542:Lars1	APN	18	42,347,892 (GRCm39)	missense	probably benign	0.09
IGL01689:Lars1	APN	18	42,350,014 (GRCm39)	missense	probably benign
IGL01819:Lars1	APN	18	42,335,615 (GRCm39)	missense	probably benign	0.00
IGL02142:Lars1	APN	18	42,360,345 (GRCm39)	missense	probably benign	0.01
IGL02598:Lars1	APN	18	42,360,342 (GRCm39)	missense	possibly damaging	0.61
IGL02630:Lars1	APN	18	42,390,234 (GRCm39)	missense	probably damaging	0.97
IGL02973:Lars1	APN	18	42,347,824 (GRCm39)	critical splice donor site	probably null
IGL03064:Lars1	APN	18	42,354,636 (GRCm39)	nonsense	probably null
IGL03081:Lars1	APN	18	42,343,156 (GRCm39)	missense	probably benign	0.00
IGL03330:Lars1	APN	18	42,353,009 (GRCm39)	missense	probably benign
IGL03334:Lars1	APN	18	42,354,571 (GRCm39)	missense	probably benign
IGL03340:Lars1	APN	18	42,361,715 (GRCm39)	splice site	probably benign
R0165:Lars1	UTSW	18	42,335,762 (GRCm39)	missense	possibly damaging	0.91
R0321:Lars1	UTSW	18	42,335,697 (GRCm39)	missense	probably damaging	0.96
R0325:Lars1	UTSW	18	42,383,967 (GRCm39)	missense	possibly damaging	0.88
R0391:Lars1	UTSW	18	42,384,428 (GRCm39)	missense	probably benign	0.00
R0558:Lars1	UTSW	18	42,347,902 (GRCm39)	missense	probably benign
R0624:Lars1	UTSW	18	42,375,849 (GRCm39)	splice site	probably benign
R0881:Lars1	UTSW	18	42,347,851 (GRCm39)	missense	probably benign	0.22
R0968:Lars1	UTSW	18	42,351,648 (GRCm39)	missense	probably benign	0.09
R1457:Lars1	UTSW	18	42,343,115 (GRCm39)	missense	probably damaging	1.00
R1466:Lars1	UTSW	18	42,343,115 (GRCm39)	missense	probably damaging	1.00
R1466:Lars1	UTSW	18	42,343,115 (GRCm39)	missense	probably damaging	1.00
R1583:Lars1	UTSW	18	42,343,115 (GRCm39)	missense	probably damaging	1.00
R1584:Lars1	UTSW	18	42,343,115 (GRCm39)	missense	probably damaging	1.00
R1851:Lars1	UTSW	18	42,345,673 (GRCm39)	missense	probably benign	0.09
R1852:Lars1	UTSW	18	42,345,673 (GRCm39)	missense	probably benign	0.09
R1868:Lars1	UTSW	18	42,347,902 (GRCm39)	missense	probably benign	0.04
R1954:Lars1	UTSW	18	42,343,115 (GRCm39)	missense	probably damaging	1.00
R2277:Lars1	UTSW	18	42,368,567 (GRCm39)	missense	probably benign	0.00
R3732:Lars1	UTSW	18	42,345,667 (GRCm39)	missense	probably benign	0.00
R3732:Lars1	UTSW	18	42,345,667 (GRCm39)	missense	probably benign	0.00
R3733:Lars1	UTSW	18	42,345,667 (GRCm39)	missense	probably benign	0.00
R4208:Lars1	UTSW	18	42,362,768 (GRCm39)	missense	probably benign	0.34
R4571:Lars1	UTSW	18	42,361,295 (GRCm39)	splice site	probably null
R5009:Lars1	UTSW	18	42,354,612 (GRCm39)	missense	probably benign	0.03
R5033:Lars1	UTSW	18	42,347,841 (GRCm39)	missense	possibly damaging	0.92
R5152:Lars1	UTSW	18	42,361,842 (GRCm39)	missense	possibly damaging	0.96
R5208:Lars1	UTSW	18	42,350,622 (GRCm39)	missense	probably benign
R5219:Lars1	UTSW	18	42,367,785 (GRCm39)	missense	probably benign	0.44
R5396:Lars1	UTSW	18	42,350,024 (GRCm39)	missense	probably benign
R5433:Lars1	UTSW	18	42,384,363 (GRCm39)	missense	possibly damaging	0.66
R5580:Lars1	UTSW	18	42,347,916 (GRCm39)	missense	probably damaging	0.98
R5610:Lars1	UTSW	18	42,390,156 (GRCm39)	missense	probably benign
R5784:Lars1	UTSW	18	42,352,964 (GRCm39)	missense	probably benign	0.00
R6249:Lars1	UTSW	18	42,390,271 (GRCm39)	splice site	probably null
R6334:Lars1	UTSW	18	42,350,551 (GRCm39)	missense	probably benign
R6618:Lars1	UTSW	18	42,377,973 (GRCm39)	missense	possibly damaging	0.86
R6900:Lars1	UTSW	18	42,367,675 (GRCm39)	missense	probably benign
R6958:Lars1	UTSW	18	42,369,704 (GRCm39)	missense	probably damaging	1.00
R7390:Lars1	UTSW	18	42,343,083 (GRCm39)	critical splice donor site	probably null
R7451:Lars1	UTSW	18	42,335,615 (GRCm39)	missense	probably benign	0.00
R7618:Lars1	UTSW	18	42,377,956 (GRCm39)	missense	probably benign	0.10
R7831:Lars1	UTSW	18	42,350,627 (GRCm39)	missense	probably benign	0.24
R7971:Lars1	UTSW	18	42,351,631 (GRCm39)	missense	probably benign	0.06
R8003:Lars1	UTSW	18	42,354,684 (GRCm39)	missense	probably damaging	1.00
R8082:Lars1	UTSW	18	42,377,975 (GRCm39)	missense	probably damaging	0.98
R8144:Lars1	UTSW	18	42,351,591 (GRCm39)	missense	probably damaging	0.98
R8181:Lars1	UTSW	18	42,361,835 (GRCm39)	missense	probably damaging	0.98
R8196:Lars1	UTSW	18	42,343,166 (GRCm39)	missense	possibly damaging	0.77
R8309:Lars1	UTSW	18	42,376,093 (GRCm39)	missense	possibly damaging	0.54
R9039:Lars1	UTSW	18	42,390,234 (GRCm39)	missense	probably damaging	0.97
R9101:Lars1	UTSW	18	42,376,942 (GRCm39)	missense	probably damaging	1.00
R9306:Lars1	UTSW	18	42,358,884 (GRCm39)	critical splice acceptor site	probably null
R9500:Lars1	UTSW	18	42,361,726 (GRCm39)	missense	probably damaging	1.00
R9536:Lars1	UTSW	18	42,376,046 (GRCm39)	nonsense	probably null
R9738:Lars1	UTSW	18	42,350,649 (GRCm39)	missense	probably damaging	1.00
X0064:Lars1	UTSW	18	42,361,125 (GRCm39)	missense	probably benign	0.05

Posted On

2013-11-05