Mutagenetix > Incidental Mutation

Incidental Mutation 'R7218:Yars2'

561620

Institutional Source

Beutler Lab

Gene Symbol

Yars2

Ensembl Gene

ENSMUSG00000022792

Gene Name

tyrosyl-tRNA synthetase 2 (mitochondrial)

Synonyms

2210023C10Rik

MMRRC Submission

045290-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R7218 (G1)

Quality Score

168.009

Status

Validated

Chromosome

Chromosomal Location

16120829-16127504 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16121182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 112 (A112V)

Ref Sequence

ENSEMBL: ENSMUSP00000055277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059955] [ENSMUST00000159683] [ENSMUST00000159962] [ENSMUST00000162734]

AlphaFold

Q8BYL4

Predicted Effect

probably damaging
Transcript: ENSMUST00000059955
AA Change: A112V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055277
Gene: ENSMUSG00000022792
AA Change: A112V

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1b	64	370	5.9e-74	PFAM
Blast:S4	403	466	1e-10	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000159683
AA Change: A112V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124606
Gene: ENSMUSG00000022792
AA Change: A112V

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1b	64	332	1.4e-63	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159962
AA Change: A112V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125252
Gene: ENSMUSG00000022792
AA Change: A112V

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1b	64	332	1.4e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162734

SMART Domains

Protein: ENSMUSP00000125496
Gene: ENSMUSG00000022792

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1b	1	102	7.2e-9	PFAM

Meta Mutation Damage Score

0.8118

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	T	C	17: 46,043,977 (GRCm39)	T94A	unknown	Het
1700025G04Rik	T	C	1: 151,791,259 (GRCm39)	R101G	probably damaging	Het
6430548M08Rik	T	A	8: 120,872,322 (GRCm39)	S83R	probably damaging	Het
Actn2	A	G	13: 12,293,799 (GRCm39)	S574P	probably benign	Het
Ank	A	T	15: 27,544,407 (GRCm39)	Y56F	probably damaging	Het
Ano7	A	G	1: 93,308,191 (GRCm39)	D74G	probably benign	Het
Apaf1	T	A	10: 90,872,864 (GRCm39)	T738S	probably damaging	Het
Apcs	A	T	1: 172,722,231 (GRCm39)	D38E	possibly damaging	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Atp8a1	T	A	5: 67,860,324 (GRCm39)	D717V		Het
Baiap2l1	A	G	5: 144,212,687 (GRCm39)	S443P	probably benign	Het
Bmal1	A	T	7: 112,886,390 (GRCm39)	H149L	probably damaging	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
C1qtnf6	T	C	15: 78,411,574 (GRCm39)	E34G	probably benign	Het
Chil3	A	C	3: 106,067,853 (GRCm39)		probably null	Het
Chmp4c	T	A	3: 10,432,198 (GRCm39)	L36Q	probably damaging	Het
Chrna2	T	A	14: 66,381,320 (GRCm39)		probably null	Het
Clec1a	C	T	6: 129,413,918 (GRCm39)	C57Y	probably damaging	Het
Clec7a	G	T	6: 129,445,885 (GRCm39)	T95K	probably damaging	Het
Csf1r	C	A	18: 61,263,396 (GRCm39)	S926R	probably damaging	Het
Dnajc9	A	G	14: 20,438,507 (GRCm39)	I61T	probably benign	Het
Extl1	T	G	4: 134,087,080 (GRCm39)	S493R	probably benign	Het
Fance	A	G	17: 28,545,148 (GRCm39)	D143G	probably benign	Het
Fcho2	C	T	13: 98,890,121 (GRCm39)		probably null	Het
Filip1	T	C	9: 79,725,356 (GRCm39)	S1088G	probably benign	Het
Gnat1	A	C	9: 107,553,184 (GRCm39)	M319R	possibly damaging	Het
Gpr132	A	T	12: 112,816,049 (GRCm39)	V259E	probably damaging	Het
Gprc5d	T	A	6: 135,093,452 (GRCm39)	M152L	probably benign	Het
Hif3a	C	T	7: 16,784,513 (GRCm39)	R244H	probably damaging	Het
Hivep3	T	C	4: 119,952,649 (GRCm39)	S322P	possibly damaging	Het
Il33	T	A	19: 29,936,325 (GRCm39)	F229I	probably damaging	Het
Il4ra	A	G	7: 125,174,950 (GRCm39)	D386G	probably benign	Het
Ino80	G	T	2: 119,288,608 (GRCm39)	H33N	probably benign	Het
Ip6k1	A	G	9: 107,922,781 (GRCm39)	D228G	unknown	Het
Mamdc2	C	T	19: 23,424,974 (GRCm39)	A40T	probably benign	Het
Meis3	T	C	7: 15,918,626 (GRCm39)	V357A	probably benign	Het
Mycbp2	T	C	14: 103,371,282 (GRCm39)	T4199A	probably benign	Het
Myo7b	A	T	18: 32,114,054 (GRCm39)	M1099K	probably benign	Het
Mzb1	A	T	18: 35,780,975 (GRCm39)	H104Q	probably benign	Het
Nfatc2	A	G	2: 168,413,184 (GRCm39)	L167P	probably benign	Het
Numa1	A	T	7: 101,650,117 (GRCm39)	S1283C	probably benign	Het
Nup98	T	G	7: 101,841,107 (GRCm39)		probably null	Het
Or13p4	T	C	4: 118,547,215 (GRCm39)	I145V	probably benign	Het
Or5p55	T	C	7: 107,566,874 (GRCm39)	L90P	probably benign	Het
Pkhd1l1	A	G	15: 44,386,091 (GRCm39)	T1243A	possibly damaging	Het
Pramel39-ps	C	A	5: 94,451,113 (GRCm39)	V338F	probably benign	Het
Ptpro	C	T	6: 137,431,596 (GRCm39)	R1152W	probably damaging	Het
Ptprt	T	C	2: 161,389,284 (GRCm39)	T1270A	probably damaging	Het
Pwwp2b	A	C	7: 138,836,049 (GRCm39)	T497P	probably damaging	Het
Rab44	T	A	17: 29,358,418 (GRCm39)	V202E		Het
Rbfox1	C	T	16: 7,111,947 (GRCm39)	T191I	probably damaging	Het
Rufy4	A	G	1: 74,172,174 (GRCm39)	K299R	probably damaging	Het
Snip1	T	A	4: 124,966,712 (GRCm39)	S381T	probably damaging	Het
Spen	T	C	4: 141,199,961 (GRCm39)	I2889V	possibly damaging	Het
Spopfm2	A	T	3: 94,082,856 (GRCm39)	H318Q	possibly damaging	Het
St3gal3	T	A	4: 117,814,639 (GRCm39)	D218V		Het
Sun1	A	G	5: 139,212,442 (GRCm39)	T70A	unknown	Het
Tbc1d23	C	T	16: 56,990,745 (GRCm39)	V678M	probably damaging	Het
Tdh	T	A	14: 63,733,206 (GRCm39)	Y195F	probably damaging	Het
Tescl	C	T	7: 24,033,286 (GRCm39)	R13H	possibly damaging	Het
Tfap2c	T	A	2: 172,399,277 (GRCm39)	M508K	probably benign	Het
Trappc4	A	G	9: 44,316,587 (GRCm39)	M136T	probably benign	Het
Tyk2	A	G	9: 21,016,350 (GRCm39)	C1207R	probably damaging	Het
Ugt2b36	T	C	5: 87,229,398 (GRCm39)	Y355C	probably damaging	Het
Vmn1r119	T	A	7: 20,745,572 (GRCm39)	H270L	probably benign	Het
Vmn2r20	G	A	6: 123,363,074 (GRCm39)	P570L	probably damaging	Het
Wnk1	A	C	6: 119,979,234 (GRCm39)	Y284*	probably null	Het
Zer1	T	C	2: 29,995,024 (GRCm39)	N470S	probably damaging	Het
Zfp747l1	A	T	7: 126,983,852 (GRCm39)	S417T	probably benign	Het
Zfp879	A	C	11: 50,723,508 (GRCm39)	V516G	possibly damaging	Het

Other mutations in Yars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Yars2	APN	16	16,121,185 (GRCm39)	missense	probably damaging	0.99
IGL01061:Yars2	APN	16	16,124,406 (GRCm39)	nonsense	probably null
IGL01062:Yars2	APN	16	16,124,406 (GRCm39)	nonsense	probably null
IGL01063:Yars2	APN	16	16,124,406 (GRCm39)	nonsense	probably null
IGL01066:Yars2	APN	16	16,124,406 (GRCm39)	nonsense	probably null
IGL01069:Yars2	APN	16	16,124,406 (GRCm39)	nonsense	probably null
IGL01070:Yars2	APN	16	16,124,406 (GRCm39)	nonsense	probably null
IGL02928:Yars2	APN	16	16,121,410 (GRCm39)	missense	probably damaging	1.00
R4718:Yars2	UTSW	16	16,127,204 (GRCm39)	missense	probably benign	0.00
R5012:Yars2	UTSW	16	16,121,448 (GRCm39)	missense	probably damaging	0.98
R5498:Yars2	UTSW	16	16,124,387 (GRCm39)	missense	possibly damaging	0.62
R5585:Yars2	UTSW	16	16,122,484 (GRCm39)	missense	probably damaging	1.00
R5935:Yars2	UTSW	16	16,127,335 (GRCm39)	missense	probably benign	0.02
R6302:Yars2	UTSW	16	16,122,438 (GRCm39)	missense	probably damaging	1.00
R6344:Yars2	UTSW	16	16,120,899 (GRCm39)	missense	probably benign
R7235:Yars2	UTSW	16	16,122,556 (GRCm39)	missense	probably benign
R7838:Yars2	UTSW	16	16,122,385 (GRCm39)	splice site	probably null
R8311:Yars2	UTSW	16	16,125,147 (GRCm39)	missense	probably benign	0.00
R9561:Yars2	UTSW	16	16,127,242 (GRCm39)	missense	possibly damaging	0.53
X0062:Yars2	UTSW	16	16,120,882 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- CGGCTTGTTCAAGGAGTTCTTC -3'
(R):5'- AAATCCACCAGGTGCTGCTC -3'

Sequencing Primer
(F):5'- AGTTCTTCCCCGAGAGCG -3'
(R):5'- TGCTGCTCCTGGAACCAG -3'

Posted On

2019-06-26