Mutagenetix > Incidental Mutation

Incidental Mutation 'R7123:Sars2'

552141

Institutional Source

Beutler Lab

Gene Symbol

Sars2

Ensembl Gene

ENSMUSG00000070699

Gene Name

seryl-aminoacyl-tRNA synthetase 2

Synonyms

D7Ertd353e, 2410015F05Rik

MMRRC Submission

045211-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

R7123 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28441417-28453296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28452866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 475 (V475A)

Ref Sequence

ENSEMBL: ENSMUSP00000092216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032815] [ENSMUST00000094632] [ENSMUST00000178767]

AlphaFold

Q9JJL8

Predicted Effect

probably benign
Transcript: ENSMUST00000032815

SMART Domains

Protein: ENSMUSP00000032815
Gene: ENSMUSG00000030595

Domain	Start	End	E-Value	Type
low complexity region	19	45	N/A	INTRINSIC
ANK	57	86	4.13e-2	SMART
ANK	93	122	1.6e1	SMART
ANK	126	155	5.98e1	SMART
low complexity region	183	191	N/A	INTRINSIC
ANK	206	235	5.12e-7	SMART
ANK	240	269	1.76e-5	SMART
ANK	273	303	1.37e2	SMART
low complexity region	305	327	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094632
AA Change: V475A

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000092216
Gene: ENSMUSG00000070699
AA Change: V475A

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: ENSMUST00000178767

SMART Domains

Protein: ENSMUSP00000137487
Gene: ENSMUSG00000096257

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	105	117	N/A	INTRINSIC
coiled coil region	129	151	N/A	INTRINSIC
low complexity region	206	215	N/A	INTRINSIC
coiled coil region	228	270	N/A	INTRINSIC

Meta Mutation Damage Score

0.8469

Coding Region Coverage

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

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,484,949 (GRCm39)	I1521T	probably damaging	Het
Adgrv1	A	T	13: 81,740,693 (GRCm39)	I145N	probably damaging	Het
Ago3	C	A	4: 126,248,798 (GRCm39)		probably null	Het
Agrn	A	T	4: 156,257,297 (GRCm39)	W1178R	probably benign	Het
Akap3	A	T	6: 126,843,267 (GRCm39)	I629L	probably benign	Het
Aknad1	T	G	3: 108,682,560 (GRCm39)	Y545*	probably null	Het
Anapc1	C	A	2: 128,454,930 (GRCm39)	V1925F	probably damaging	Het
Barhl1	C	T	2: 28,799,943 (GRCm39)		probably null	Het
Cfap157	T	C	2: 32,669,413 (GRCm39)	E294G	probably damaging	Het
Cfd	G	A	10: 79,728,331 (GRCm39)	G231S	probably damaging	Het
Csf2ra	A	G	19: 61,215,300 (GRCm39)	V105A	probably damaging	Het
Dhtkd1	A	T	2: 5,922,591 (GRCm39)	W523R	probably damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnajc22	A	C	15: 98,999,085 (GRCm39)	Y90S	possibly damaging	Het
Ebna1bp2	A	G	4: 118,482,772 (GRCm39)	K254E	probably damaging	Het
Gfpt1	A	T	6: 87,033,168 (GRCm39)	D131V	probably damaging	Het
Gm5460	A	G	14: 33,763,982 (GRCm39)	I21V	unknown	Het
H2-T9	A	G	17: 36,438,686 (GRCm39)	I235T	possibly damaging	Het
Htr1d	C	T	4: 136,169,664 (GRCm39)		probably benign	Het
Kndc1	G	A	7: 139,516,749 (GRCm39)	E1570K	probably damaging	Het
Kntc1	T	C	5: 123,919,789 (GRCm39)	Y887H	probably damaging	Het
Kti12	T	C	4: 108,705,679 (GRCm39)	S198P	probably benign	Het
Mcmdc2	A	T	1: 10,010,643 (GRCm39)	I604F	unknown	Het
Mmp8	A	T	9: 7,563,196 (GRCm39)	D253V	probably damaging	Het
Muc4	T	C	16: 32,569,509 (GRCm39)	S252P	possibly damaging	Het
Myo5c	A	G	9: 75,196,505 (GRCm39)	K1317R	probably benign	Het
Ncoa7	T	C	10: 30,530,435 (GRCm39)	I749V	probably benign	Het
Nfrkb	A	G	9: 31,325,311 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,904,477 (GRCm39)	T7166A	probably benign	Het
Obsl1	A	G	1: 75,466,313 (GRCm39)	S1472P	probably damaging	Het
Or14j7	T	A	17: 38,234,567 (GRCm39)	L37M	probably benign	Het
Or1e20-ps1	T	A	11: 73,324,536 (GRCm39)	D172V	unknown	Het
Orc1	A	C	4: 108,445,884 (GRCm39)	M1L	probably damaging	Het
Pkd1	T	A	17: 24,813,742 (GRCm39)	S4069T	possibly damaging	Het
Pus1	T	C	5: 110,921,798 (GRCm39)	*442W	probably null	Het
Rgma	A	C	7: 73,059,139 (GRCm39)	D97A	probably damaging	Het
Ryr1	T	C	7: 28,746,279 (GRCm39)	K3834E	probably benign	Het
Scamp2	A	T	9: 57,494,385 (GRCm39)	T253S	probably benign	Het
Skint9	C	T	4: 112,248,174 (GRCm39)	W190*	probably null	Het
Spata31d1e	G	A	13: 59,891,254 (GRCm39)	Q189*	probably null	Het
Sv2b	C	T	7: 74,767,450 (GRCm39)	V649I	possibly damaging	Het
Synpo2	A	G	3: 122,906,835 (GRCm39)	V827A	probably benign	Het
Tiparp	A	T	3: 65,460,948 (GRCm39)	I646F	probably damaging	Het
Topaz1	G	A	9: 122,577,480 (GRCm39)	G130D	probably damaging	Het
Trio	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	15: 27,742,399 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,619,051 (GRCm39)	P319S	possibly damaging	Het
Umodl1	T	A	17: 31,201,318 (GRCm39)	F416I	possibly damaging	Het
Vmn2r104	T	C	17: 20,261,088 (GRCm39)	D445G	probably benign	Het
Wnk2	A	G	13: 49,235,462 (GRCm39)	V651A	possibly damaging	Het
Zbtb21	C	T	16: 97,751,112 (GRCm39)	S1057N	probably damaging	Het
Zfp451	A	T	1: 33,815,950 (GRCm39)	C667S	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
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
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'- CCCCAAGTCTGGAATCTTAGGTTT -3'
(R):5'- GTCTCTAGAACGCCAGCCT -3'

Sequencing Primer
(F):5'- TGTCAGGAATCTCACTCACTGAGG -3'
(R):5'- AGCCTCTGGAGCAGACAG -3'

Posted On

2019-05-15