Mutagenetix > Incidental Mutation

Incidental Mutation 'R5849:Sars2'

453772

Institutional Source

Beutler Lab

Gene Symbol

Sars2

Ensembl Gene

ENSMUSG00000070699

Gene Name

seryl-aminoacyl-tRNA synthetase 2

Synonyms

D7Ertd353e, 2410015F05Rik

MMRRC Submission

044066-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.880) question?

Stock #

R5849 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

28441417-28453296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28443683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 95 (E95G)

Ref Sequence

ENSEMBL: ENSMUSP00000092216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056078] [ENSMUST00000094632] [ENSMUST00000165004] [ENSMUST00000171183] [ENSMUST00000207877]

AlphaFold

Q9JJL8

Predicted Effect

probably benign
Transcript: ENSMUST00000056078

SMART Domains

Protein: ENSMUSP00000062066
Gene: ENSMUSG00000045948

Domain	Start	End	E-Value	Type
Pfam:Ribosom_S12_S23	31	139	2.4e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094632
AA Change: E95G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092216
Gene: ENSMUSG00000070699
AA Change: E95G

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: ENSMUST00000165004

SMART Domains

Protein: ENSMUSP00000129492
Gene: ENSMUSG00000045948

Domain	Start	End	E-Value	Type
Pfam:Ribosom_S12_S23	23	125	3e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165246

Predicted Effect

probably benign
Transcript: ENSMUST00000171183

SMART Domains

Protein: ENSMUSP00000132443
Gene: ENSMUSG00000045948

Domain	Start	End	E-Value	Type
Pfam:Ribosom_S12_S23	31	139	2.4e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207877
AA Change: E95G

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207897

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

96% (72/75)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Agbl1	T	C	7: 75,974,846 (GRCm39)	S113P	probably benign	Het
Ak9	A	G	10: 41,224,045 (GRCm39)	D486G	probably benign	Het
Aopep	A	G	13: 63,163,312 (GRCm39)	D111G	probably benign	Het
Arhgap11a	T	C	2: 113,665,192 (GRCm39)	S469G	probably null	Het
Comtd1	C	T	14: 21,898,188 (GRCm39)	G48D	probably damaging	Het
Cyp27a1	T	C	1: 74,775,843 (GRCm39)	S343P	probably damaging	Het
Dcun1d1	T	A	3: 35,970,333 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,744,223 (GRCm39)	I1404T	possibly damaging	Het
Dlgap5	A	G	14: 47,626,892 (GRCm39)	S766P	possibly damaging	Het
Ebf1	T	A	11: 44,881,331 (GRCm39)		probably null	Het
Flcn	T	A	11: 59,695,586 (GRCm39)	I4L	probably damaging	Het
Gm57858	A	T	3: 36,087,026 (GRCm39)	D189E	possibly damaging	Het
Grin2c	T	C	11: 115,151,817 (GRCm39)	T48A	probably benign	Het
Hyal5	T	A	6: 24,891,555 (GRCm39)	S456R	probably benign	Het
Igf1r	A	G	7: 67,839,781 (GRCm39)	D696G	probably benign	Het
Iqgap1	A	T	7: 80,452,906 (GRCm39)	V13D	probably benign	Het
Itgal	A	G	7: 126,916,492 (GRCm39)	N728S	probably benign	Het
Kcnb1	T	A	2: 166,947,946 (GRCm39)	I301F	probably damaging	Het
Kcnd3	A	G	3: 105,366,111 (GRCm39)		probably benign	Het
Kdm4a	C	T	4: 118,019,037 (GRCm39)	R393Q	probably benign	Het
Lcn9	G	A	2: 25,713,268 (GRCm39)		probably null	Het
Madcam1	T	A	10: 79,500,824 (GRCm39)	M47K	probably benign	Het
Matn3	A	G	12: 9,008,829 (GRCm39)	Q314R	probably benign	Het
Msh3	A	T	13: 92,386,386 (GRCm39)	D826E	possibly damaging	Het
Muc4	A	T	16: 32,595,213 (GRCm39)	T3088S	possibly damaging	Het
Mup3	T	G	4: 62,005,172 (GRCm39)		probably null	Het
Myo15b	A	G	11: 115,772,759 (GRCm39)	K1807E	probably damaging	Het
Myrip	A	G	9: 120,282,759 (GRCm39)	D688G	probably damaging	Het
Nup153	A	G	13: 46,840,452 (GRCm39)	F1052S	probably damaging	Het
Oplah	T	A	15: 76,181,547 (GRCm39)		probably benign	Het
Or4f14d	A	T	2: 111,960,223 (GRCm39)	I311K	probably benign	Het
Or52r1c	T	A	7: 102,734,728 (GRCm39)	M1K	probably null	Het
Or6z3	A	T	7: 6,463,993 (GRCm39)	I162F	possibly damaging	Het
Or9g19	A	T	2: 85,600,768 (GRCm39)	I208F	probably benign	Het
Pacsin2	A	G	15: 83,274,719 (GRCm39)	F120L	possibly damaging	Het
Ppp1r36	C	A	12: 76,485,931 (GRCm39)	P363Q	probably damaging	Het
Rai1	C	A	11: 60,081,347 (GRCm39)	H1804N	possibly damaging	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rnf214	G	A	9: 45,779,386 (GRCm39)	P455S	probably damaging	Het
Rnf220	T	C	4: 117,134,809 (GRCm39)	T188A	possibly damaging	Het
S1pr4	C	T	10: 81,335,157 (GRCm39)	V106M	possibly damaging	Het
Sall2	C	A	14: 52,551,704 (GRCm39)	S495I	probably benign	Het
Sema3f	G	A	9: 107,559,815 (GRCm39)	T693M	probably damaging	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Snrpe	T	A	1: 133,536,652 (GRCm39)	I43L	probably benign	Het
Srsf1	T	C	11: 87,938,684 (GRCm39)	I7T	possibly damaging	Het
Ssbp1	T	A	6: 40,453,837 (GRCm39)		probably benign	Het
Stbd1	T	G	5: 92,752,854 (GRCm39)	F115V	probably benign	Het
Stk11ip	T	A	1: 75,503,999 (GRCm39)		probably null	Het
Taf1b	T	A	12: 24,550,524 (GRCm39)	N36K	probably damaging	Het
Tanc1	A	T	2: 59,630,248 (GRCm39)	M743L	probably benign	Het
Tnfsf12	C	A	11: 69,577,793 (GRCm39)	R208L	probably damaging	Het
Trafd1	T	C	5: 121,511,534 (GRCm39)	D428G	probably damaging	Het
Trim24	A	G	6: 37,934,664 (GRCm39)	E793G	probably damaging	Het
Tspan32	T	C	7: 142,569,324 (GRCm39)	C100R	probably damaging	Het
Ttn	T	C	2: 76,576,586 (GRCm39)	D16442G	probably damaging	Het
Ube3c	T	A	5: 29,863,407 (GRCm39)	L894Q	probably damaging	Het
Wfs1	C	G	5: 37,130,608 (GRCm39)	G213R	probably damaging	Het
Zfp384	G	A	6: 125,001,062 (GRCm39)	A45T	possibly damaging	Het
Zfp865	G	T	7: 5,034,086 (GRCm39)	K690N	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
R1601:Sars2	UTSW	7	28,448,396 (GRCm39)	missense	probably benign	0.26
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
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'- TTGGTCGTGATCATACCAACAG -3'
(R):5'- TGATTCAAGCCCTTTTCATTGGG -3'

Sequencing Primer
(F):5'- GTGATCATACCAACAGAAGTGGCTTC -3'
(R):5'- GTTTCCTGTTATTCCCAGACAGAGAG -3'

Posted On

2017-02-10