Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02121:Sars2'

280642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sars2

Ensembl Gene

ENSMUSG00000070699

Gene Name

seryl-aminoacyl-tRNA synthetase 2

Synonyms

D7Ertd353e, 2410015F05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

IGL02121

Quality Score

Status

Chromosome

Chromosomal Location

28441417-28453296 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 28451950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137487 (fasta)

Gene Model

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

AlphaFold

Q9JJL8

Predicted Effect

probably benign
Transcript: ENSMUST00000094632

SMART Domains

Protein: ENSMUSP00000092216
Gene: ENSMUSG00000070699

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

Coding Region Coverage

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	A	T	13: 97,159,038 (GRCm39)	V122D	unknown	Het
4930579F01Rik	T	G	3: 137,870,134 (GRCm39)	Y199S	possibly damaging	Het
Abca6	T	A	11: 110,073,750 (GRCm39)	I1434F	probably benign	Het
Acsm1	T	C	7: 119,257,635 (GRCm39)	V467A	possibly damaging	Het
Alg3	T	C	16: 20,425,285 (GRCm39)	T260A	possibly damaging	Het
Aoc1	A	G	6: 48,883,254 (GRCm39)		probably null	Het
Ap5b1	C	T	19: 5,620,815 (GRCm39)	T745I	possibly damaging	Het
Atp6v1c2	T	G	12: 17,341,441 (GRCm39)	K272Q	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cert1	T	G	13: 96,735,982 (GRCm39)	Y181D	probably benign	Het
Clcn7	C	T	17: 25,372,058 (GRCm39)	A426V	possibly damaging	Het
Clec14a	T	C	12: 58,315,223 (GRCm39)	E133G	probably damaging	Het
Dst	T	A	1: 34,267,738 (GRCm39)	V2720E	probably damaging	Het
Efr3a	C	T	15: 65,742,999 (GRCm39)		probably benign	Het
Fam83g	T	C	11: 61,575,609 (GRCm39)	S84P	probably benign	Het
Gm7251	T	C	13: 49,959,382 (GRCm39)		noncoding transcript	Het
Gnptab	T	G	10: 88,265,323 (GRCm39)	S312A	possibly damaging	Het
Grap2	C	A	15: 80,532,076 (GRCm39)	S230R	possibly damaging	Het
Grm6	T	A	11: 50,750,483 (GRCm39)	C549S	probably damaging	Het
Gtf3c1	A	T	7: 125,245,903 (GRCm39)	L1504*	probably null	Het
Iars1	A	G	13: 49,878,172 (GRCm39)	M899V	probably benign	Het
Il1rl1	T	A	1: 40,481,463 (GRCm39)		probably benign	Het
Kcna4	T	C	2: 107,126,963 (GRCm39)	Y566H	possibly damaging	Het
Kcnn2	T	C	18: 45,694,340 (GRCm39)	I175T	probably damaging	Het
Kcnt1	C	T	2: 25,791,877 (GRCm39)	T609I	probably damaging	Het
Kif3b	A	G	2: 153,159,194 (GRCm39)	R332G	probably damaging	Het
Mansc1	T	C	6: 134,598,800 (GRCm39)	D39G	probably damaging	Het
Med12	T	C	X: 100,331,948 (GRCm39)		probably benign	Het
Mmp1b	G	T	9: 7,384,935 (GRCm39)	T238K	probably benign	Het
Nav3	A	G	10: 109,594,897 (GRCm39)	S1435P	probably damaging	Het
Npc1l1	A	G	11: 6,178,157 (GRCm39)	S418P	probably benign	Het
Or14j1	T	C	17: 38,146,832 (GRCm39)	V314A	probably benign	Het
Or2ab1	T	C	11: 58,488,408 (GRCm39)	V62A	possibly damaging	Het
Or3a1b	A	G	11: 74,012,113 (GRCm39)		probably benign	Het
Or52a24	A	G	7: 103,381,676 (GRCm39)	Y181C	probably damaging	Het
Or52h1	A	C	7: 103,829,432 (GRCm39)	M61R	probably damaging	Het
Or6ae1	G	T	7: 139,742,607 (GRCm39)	D85E	probably benign	Het
Or8b3b	T	C	9: 38,584,711 (GRCm39)	T23A	probably damaging	Het
Otoa	A	G	7: 120,721,247 (GRCm39)	T421A	probably benign	Het
Otulin	G	A	15: 27,608,823 (GRCm39)	A42V	probably damaging	Het
Pcdhb1	T	A	18: 37,398,838 (GRCm39)	V263E	probably benign	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Phip	A	T	9: 82,775,423 (GRCm39)	V1053D	probably damaging	Het
Pkd1	G	A	17: 24,794,901 (GRCm39)	R2196H	probably benign	Het
Plin4	T	A	17: 56,409,131 (GRCm39)	Q1363L	probably damaging	Het
Pp2d1	C	A	17: 53,814,949 (GRCm39)	V592L	probably damaging	Het
Pramel51	T	C	12: 88,145,242 (GRCm39)	D28G	possibly damaging	Het
Prkdc	T	G	16: 15,535,048 (GRCm39)	M1649R	probably benign	Het
Ptk2b	T	C	14: 66,450,931 (GRCm39)	K12E	probably benign	Het
Rars2	G	A	4: 34,657,219 (GRCm39)	V522I	probably damaging	Het
Rpgrip1	T	A	14: 52,384,831 (GRCm39)	N646K	possibly damaging	Het
Sgo2b	T	C	8: 64,384,316 (GRCm39)	T227A	possibly damaging	Het
Smc1b	T	C	15: 84,982,186 (GRCm39)	T703A	probably benign	Het
Stk32a	G	T	18: 43,446,572 (GRCm39)	D341Y	probably benign	Het
Thap11	T	C	8: 106,582,546 (GRCm39)	V185A	possibly damaging	Het
Ttll10	C	A	4: 156,132,890 (GRCm39)	V65F	probably benign	Het
Ube2q1	T	A	3: 89,687,769 (GRCm39)	N111K	possibly damaging	Het
Upf2	C	A	2: 6,031,134 (GRCm39)		probably benign	Het
Utp25	A	T	1: 192,800,586 (GRCm39)	D411E	probably benign	Het
Vasp	T	A	7: 18,991,637 (GRCm39)		probably benign	Het
Vmn2r104	C	T	17: 20,262,056 (GRCm39)	W358*	probably null	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Wdfy3	C	T	5: 102,046,376 (GRCm39)	G1826R	possibly damaging	Het
Wdr7	T	A	18: 63,910,616 (GRCm39)	Y669*	probably null	Het
Wdr72	T	A	9: 74,189,011 (GRCm39)		probably benign	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
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
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

Posted On

2015-04-16