Mutagenetix > Incidental Mutation

Incidental Mutation 'R7683:Lars2'

592882

Institutional Source

Beutler Lab

Gene Symbol

Lars2

Ensembl Gene

ENSMUSG00000035202

Gene Name

leucyl-tRNA synthetase, mitochondrial

Synonyms

Kiaa0028

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123366927-123462666 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 123377830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038863] [ENSMUST00000216843] [ENSMUST00000217116]

AlphaFold

Q8VDC0

Predicted Effect

probably null
Transcript: ENSMUST00000038863

SMART Domains

Protein: ENSMUSP00000036710
Gene: ENSMUSG00000035202

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

probably null
Transcript: ENSMUST00000215464

Predicted Effect

probably benign
Transcript: ENSMUST00000216843

Predicted Effect

probably benign
Transcript: ENSMUST00000217116

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	A	G	13: 59,512,498	C305R	probably damaging	Het
Anpep	C	A	7: 79,839,198	V381L	probably damaging	Het
Ap5s1	T	C	2: 131,212,707	L146P	probably damaging	Het
Arhgef11	A	G	3: 87,722,383	I599V	probably damaging	Het
Arpc2	T	C	1: 74,263,814	Y250H	probably damaging	Het
Baz1b	T	A	5: 135,217,728	M677K	probably damaging	Het
Begain	C	T	12: 109,033,487	A453T	unknown	Het
C1ql4	T	C	15: 99,087,211	D173G	probably benign	Het
Card11	T	G	5: 140,896,026	N461T	probably benign	Het
Ccdc9	T	C	7: 16,284,362	D7G	probably damaging	Het
Ces2a	T	C	8: 104,737,112	V152A	probably benign	Het
Chl1	G	A	6: 103,691,652	A449T	possibly damaging	Het
Col11a1	G	T	3: 114,113,736	G638W	unknown	Het
Cse1l	A	T	2: 166,922,788	T171S	probably benign	Het
D2hgdh	T	A	1: 93,838,965		probably null	Het
Dlg4	T	C	11: 70,039,854	Y432H	possibly damaging	Het
Dmwd	C	T	7: 19,080,735	L437F	probably damaging	Het
F11	T	A	8: 45,249,508	Q251L	probably damaging	Het
Gm13078	A	T	4: 143,726,714	K131*	probably null	Het
Gtf2f1	T	A	17: 57,005,458	E195V	possibly damaging	Het
Hap1	A	T	11: 100,351,548	L376Q	probably damaging	Het
Hars2	T	A	18: 36,788,236	I234N	probably damaging	Het
Hcfc2	T	C	10: 82,699,229	V29A	probably benign	Het
Hp	C	T	8: 109,579,099		probably benign	Het
Hrh1	T	C	6: 114,479,787	S10P	probably benign	Het
Kcnmb2	A	G	3: 32,198,316	Y222C	probably damaging	Het
Kdm3a	A	G	6: 71,599,454	V792A	probably benign	Het
Kif13b	G	A	14: 64,757,507	V903I	probably benign	Het
Med7	A	G	11: 46,440,860	D94G	possibly damaging	Het
Mier3	A	G	13: 111,705,312	T136A	probably benign	Het
Nin	T	C	12: 70,078,182	E122G		Het
Olfr186	G	T	16: 59,027,106	T267K	probably benign	Het
Olfr427	A	G	1: 174,099,476	Q6R	probably benign	Het
Oxsr1	T	C	9: 119,241,755	I489V	probably benign	Het
Pdcd6ip	A	T	9: 113,687,695	L216Q	probably damaging	Het
Ppp4r4	T	A	12: 103,587,105	C379*	probably null	Het
Ptpn13	T	A	5: 103,565,152	C1714S	probably benign	Het
Pum2	G	A	12: 8,728,922	R498Q	possibly damaging	Het
Sema3d	T	A	5: 12,573,856	Y577*	probably null	Het
Slc29a3	G	A	10: 60,716,366	P300S	not run	Het
Slc5a4b	A	G	10: 76,064,072	V444A	probably damaging	Het
Smad9	A	G	3: 54,789,264	E250G	probably damaging	Het
Srsf7	A	G	17: 80,207,274		probably benign	Het
Thsd7b	A	G	1: 129,595,946	Y239C	probably damaging	Het
Triml2	C	A	8: 43,185,288	Q98K	probably damaging	Het
Txndc11	A	T	16: 11,084,235	L705Q	probably damaging	Het
Vmn1r22	A	G	6: 57,900,419	M191T	probably damaging	Het
Vmn2r89	A	T	14: 51,455,194	K151N	probably benign	Het
Vwa5a	A	G	9: 38,734,829	I498V	probably damaging	Het
Zfp459	T	C	13: 67,408,496	H156R	probably damaging	Het
Zscan18	T	A	7: 12,769,605	K676*	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCATACAGAGATCCCAGAAAATATG -3'
(R):5'- GAAAGGAGCAGTGTTACCCG -3'

Sequencing Primer
(F):5'- CCATACCCTTCTGGCAAG -3'
(R):5'- AGCGTAACATCTACCTCTTGCAG -3'

Posted On

2019-11-12