Mutagenetix > Incidental Mutation

Incidental Mutation 'R1601:Sars2'

176148

Institutional Source

Beutler Lab

Gene Symbol

Sars2

Ensembl Gene

ENSMUSG00000070699

Gene Name

seryl-aminoacyl-tRNA synthetase 2

Synonyms

D7Ertd353e, 2410015F05Rik

MMRRC Submission

039638-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.880) question?

Stock #

R1601 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

28441417-28453296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28448396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 259 (T259M)

Ref Sequence

ENSEMBL: ENSMUSP00000092216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094632] [ENSMUST00000207877]

AlphaFold

Q9JJL8

Predicted Effect

probably benign
Transcript: ENSMUST00000094632
AA Change: T259M

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092216
Gene: ENSMUSG00000070699
AA Change: T259M

Domain	Start	End	E-Value	Type
Pfam:Seryl_tRNA_N	58	174	3.8e-8	PFAM
Pfam:tRNA-synt_2b	284	468	5.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207897

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,546 (GRCm39)	S169N	probably benign	Het
Adgra2	T	C	8: 27,600,046 (GRCm39)		probably null	Het
Adgrb2	T	C	4: 129,886,630 (GRCm39)	S257P	probably benign	Het
Adgre1	A	G	17: 57,748,353 (GRCm39)	K518E	probably benign	Het
Anxa7	A	T	14: 20,514,683 (GRCm39)	Y64*	probably null	Het
Arhgef7	A	G	8: 11,832,638 (GRCm39)		probably null	Het
Cdc42bpa	T	A	1: 179,892,566 (GRCm39)	Y243*	probably null	Het
Cdk14	C	T	5: 5,185,378 (GRCm39)	V176M	probably damaging	Het
Cnbd2	A	G	2: 156,175,551 (GRCm39)	E54G	probably damaging	Het
Crx	T	C	7: 15,601,736 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,611 (GRCm39)	F511L	possibly damaging	Het
Ddx11	A	G	17: 66,457,380 (GRCm39)	M810V	probably damaging	Het
Dock10	T	C	1: 80,527,519 (GRCm39)	T1077A	probably benign	Het
Dop1a	G	A	9: 86,418,303 (GRCm39)	D2011N	probably damaging	Het
Ehhadh	T	A	16: 21,585,158 (GRCm39)	H241L	probably benign	Het
Elp1	T	A	4: 56,774,756 (GRCm39)	K740*	probably null	Het
Enah	A	T	1: 181,747,185 (GRCm39)	L523*	probably null	Het
Fabp3	T	C	4: 130,202,641 (GRCm39)	L24P	probably benign	Het
Fat2	A	G	11: 55,172,836 (GRCm39)	S2626P	probably benign	Het
Fbxo4	A	G	15: 3,998,447 (GRCm39)	M337T	possibly damaging	Het
Gas6	G	T	8: 13,515,786 (GRCm39)	T662N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Hrh4	G	A	18: 13,148,955 (GRCm39)	V106I	possibly damaging	Het
Ido2	G	T	8: 25,066,205 (GRCm39)	H20Q	possibly damaging	Het
Itga10	G	T	3: 96,560,974 (GRCm39)	R613L	possibly damaging	Het
Itsn2	T	C	12: 4,708,452 (GRCm39)	S836P	probably benign	Het
Kcng3	A	T	17: 83,895,768 (GRCm39)	C233S	probably damaging	Het
Kdm3b	A	G	18: 34,941,784 (GRCm39)	Q625R	probably damaging	Het
Kidins220	A	G	12: 25,055,087 (GRCm39)	S553G	probably benign	Het
Krt82	A	T	15: 101,453,588 (GRCm39)	I266N	probably damaging	Het
Lama5	A	T	2: 179,839,538 (GRCm39)	L736Q	probably damaging	Het
Lnx2	A	G	5: 146,970,329 (GRCm39)	C138R	probably damaging	Het
Mcm5	T	C	8: 75,845,982 (GRCm39)	C397R	possibly damaging	Het
Me1	A	C	9: 86,560,065 (GRCm39)	Y52D	probably damaging	Het
Muc4	C	A	16: 32,575,875 (GRCm39)		probably benign	Het
Myo18b	G	T	5: 113,019,364 (GRCm39)	Q638K	possibly damaging	Het
Ncapd2	A	G	6: 125,162,735 (GRCm39)	L170P	probably damaging	Het
Neb	A	T	2: 52,177,264 (GRCm39)	L1359*	probably null	Het
Nomo1	C	A	7: 45,696,379 (GRCm39)	S299Y	probably damaging	Het
Onecut1	A	T	9: 74,769,973 (GRCm39)	H132L	probably benign	Het
Or2b2	C	A	13: 21,887,396 (GRCm39)	T75K	probably damaging	Het
Or2w3	A	T	11: 58,556,903 (GRCm39)	R173W	probably damaging	Het
Or4e2	A	C	14: 52,687,899 (GRCm39)	T10P	probably benign	Het
Or7a41	A	T	10: 78,871,338 (GRCm39)	Y236F	possibly damaging	Het
Paqr3	A	G	5: 97,259,248 (GRCm39)	Y19H	probably benign	Het
Prdx5	T	C	19: 6,884,926 (GRCm39)	H140R	possibly damaging	Het
Prox1	T	C	1: 189,893,203 (GRCm39)	D414G	probably damaging	Het
Ptprh	T	G	7: 4,555,637 (GRCm39)	E774A	probably damaging	Het
Rnpepl1	A	T	1: 92,844,944 (GRCm39)	D412V	possibly damaging	Het
Sbf2	T	C	7: 109,939,283 (GRCm39)		probably null	Het
Sbno2	C	T	10: 79,896,326 (GRCm39)	R898H	probably damaging	Het
Smox	C	A	2: 131,362,094 (GRCm39)	T172N	probably damaging	Het
Taf7l2	T	C	10: 115,949,521 (GRCm39)	S2G	probably damaging	Het
Tdrd9	C	T	12: 111,989,687 (GRCm39)	R341*	probably null	Het
Thrap3	C	G	4: 126,073,894 (GRCm39)	G284A	probably damaging	Het
Tmtc4	A	G	14: 123,182,238 (GRCm39)	V271A	probably benign	Het
Trank1	A	G	9: 111,202,545 (GRCm39)	T1637A	probably damaging	Het
Tspan5	T	A	3: 138,602,596 (GRCm39)	I166N	probably damaging	Het
Vps13b	T	C	15: 35,642,582 (GRCm39)	V1398A	probably benign	Het
Xbp1	C	T	11: 5,471,975 (GRCm39)	R34W	probably damaging	Het

Other mutations in Sars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Sars2	APN	7	28,452,848 (GRCm39)	unclassified	probably benign
IGL01376:Sars2	APN	7	28,449,308 (GRCm39)	missense	probably damaging	1.00
IGL01633:Sars2	APN	7	28,446,974 (GRCm39)	missense	probably benign	0.02
IGL02121:Sars2	APN	7	28,451,950 (GRCm39)	unclassified	probably benign
IGL02488:Sars2	APN	7	28,441,585 (GRCm39)	nonsense	probably null
IGL03062:Sars2	APN	7	28,446,206 (GRCm39)	missense	possibly damaging	0.89
R1857:Sars2	UTSW	7	28,449,437 (GRCm39)	missense	probably benign	0.00
R1859:Sars2	UTSW	7	28,443,737 (GRCm39)	missense	probably damaging	0.99
R2193:Sars2	UTSW	7	28,448,422 (GRCm39)	missense	probably damaging	0.96
R2204:Sars2	UTSW	7	28,449,099 (GRCm39)	missense	possibly damaging	0.95
R4452:Sars2	UTSW	7	28,449,518 (GRCm39)	missense	probably benign	0.08
R4514:Sars2	UTSW	7	28,441,709 (GRCm39)	critical splice donor site	probably null
R4921:Sars2	UTSW	7	28,451,863 (GRCm39)	missense	possibly damaging	0.81
R5121:Sars2	UTSW	7	28,447,333 (GRCm39)	missense	probably damaging	0.99
R5434:Sars2	UTSW	7	28,449,716 (GRCm39)	missense	probably null	1.00
R5849:Sars2	UTSW	7	28,443,683 (GRCm39)	missense	possibly damaging	0.92
R6668:Sars2	UTSW	7	28,446,429 (GRCm39)	missense	probably benign	0.01
R7123:Sars2	UTSW	7	28,452,866 (GRCm39)	missense	probably benign	0.40
R7205:Sars2	UTSW	7	28,443,733 (GRCm39)	missense	probably benign
R7677:Sars2	UTSW	7	28,446,176 (GRCm39)	missense	probably benign	0.07
R7902:Sars2	UTSW	7	28,441,628 (GRCm39)	missense	probably benign	0.29
R8084:Sars2	UTSW	7	28,449,710 (GRCm39)	missense	probably damaging	1.00
R8320:Sars2	UTSW	7	28,446,293 (GRCm39)	missense	probably damaging	1.00
R9057:Sars2	UTSW	7	28,446,246 (GRCm39)	missense
R9350:Sars2	UTSW	7	28,447,273 (GRCm39)	missense	probably damaging	1.00
R9461:Sars2	UTSW	7	28,449,438 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTGCTCGCAGCAGGAGAAC -3'
(R):5'- CAGGTGATGGGGTAACCTTGGC -3'

Sequencing Primer
(F):5'- GGAGAACCCCAATAACAGGGAC -3'
(R):5'- cccccccaatcccctac -3'

Posted On

2014-04-24