Mutagenetix > Incidental Mutation

Incidental Mutation 'R1859:Sars2'

204210

Institutional Source

Beutler Lab

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 #

R1859 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

28441417-28453296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28443737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 113 (V113A)

Ref Sequence

ENSEMBL: ENSMUSP00000146884 (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

probably damaging
Transcript: ENSMUST00000094632
AA Change: V113A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092216
Gene: ENSMUSG00000070699
AA Change: V113A

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

probably damaging
Transcript: ENSMUST00000207877
AA Change: V113A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207897

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,637,268 (GRCm39)		probably benign	Het
Adcy10	A	G	1: 165,349,530 (GRCm39)	E467G	probably damaging	Het
Alkbh8	A	G	9: 3,385,499 (GRCm39)	D597G	probably benign	Het
Alpk1	T	A	3: 127,474,749 (GRCm39)	H418L	possibly damaging	Het
Ano5	G	T	7: 51,196,581 (GRCm39)	V138L	probably damaging	Het
Aspg	T	A	12: 112,087,606 (GRCm39)	I319K	possibly damaging	Het
Atp9b	T	C	18: 80,793,135 (GRCm39)	T970A	possibly damaging	Het
Brd10	A	C	19: 29,732,323 (GRCm39)	C230G	possibly damaging	Het
C4b	T	A	17: 34,954,527 (GRCm39)	M881L	probably benign	Het
Cd209c	A	T	8: 3,994,953 (GRCm39)	N70K	probably benign	Het
Cdca5	T	C	19: 6,140,124 (GRCm39)	V95A	possibly damaging	Het
Cds2	A	G	2: 132,144,115 (GRCm39)	Y297C	probably damaging	Het
Celsr2	C	T	3: 108,303,946 (GRCm39)	G2371S	probably damaging	Het
Cemip2	T	C	19: 21,825,341 (GRCm39)	V1213A	possibly damaging	Het
Chd5	T	A	4: 152,464,980 (GRCm39)	I1557N	probably benign	Het
Cntn5	C	T	9: 9,972,839 (GRCm39)	E266K	probably damaging	Het
Crtam	G	A	9: 40,884,900 (GRCm39)	T363M	possibly damaging	Het
Dnah2	A	G	11: 69,328,712 (GRCm39)	S3298P	probably damaging	Het
Dok1	A	T	6: 83,009,226 (GRCm39)	Y209N	probably damaging	Het
Dpp10	T	C	1: 123,281,333 (GRCm39)	D561G	possibly damaging	Het
Drosha	A	G	15: 12,878,804 (GRCm39)	K710R	probably benign	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Ercc6	T	C	14: 32,248,735 (GRCm39)	S429P	probably damaging	Het
Fam135a	A	T	1: 24,069,306 (GRCm39)	V521E	probably damaging	Het
Fbxl7	A	T	15: 26,543,279 (GRCm39)	L456Q	probably damaging	Het
Fbxo38	A	G	18: 62,648,489 (GRCm39)	I683T	probably damaging	Het
Foxc2	G	T	8: 121,843,364 (GRCm39)	R4L	probably damaging	Het
Glyctk	C	T	9: 106,034,731 (GRCm39)	V112I	probably benign	Het
Guf1	G	T	5: 69,725,803 (GRCm39)	G481*	probably null	Het
Heatr1	T	C	13: 12,418,040 (GRCm39)	L324S	probably damaging	Het
Hectd1	A	G	12: 51,853,350 (GRCm39)	L57P	probably damaging	Het
Hmcn1	A	T	1: 150,532,944 (GRCm39)	C3080S	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifit1	T	A	19: 34,624,944 (GRCm39)	F27I	probably benign	Het
Ift20	G	T	11: 78,430,860 (GRCm39)	E68*	probably null	Het
Itsn1	A	G	16: 91,686,042 (GRCm39)		probably benign	Het
Ksr2	T	A	5: 117,553,006 (GRCm39)	L38Q	probably damaging	Het
Lama2	A	T	10: 26,907,078 (GRCm39)	M2361K	possibly damaging	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map3k9	A	T	12: 81,771,256 (GRCm39)	S800R	possibly damaging	Het
Mef2a	A	G	7: 66,915,766 (GRCm39)	S179P	probably damaging	Het
Micall1	A	G	15: 79,007,145 (GRCm39)		probably benign	Het
Mpg	A	G	11: 32,181,957 (GRCm39)		probably null	Het
Mpp7	A	T	18: 7,350,967 (GRCm39)	*577K	probably null	Het
Msh4	G	T	3: 153,611,517 (GRCm39)	H35Q	probably benign	Het
Mst1	G	A	9: 107,961,545 (GRCm39)	V601I	probably benign	Het
Myh10	T	A	11: 68,636,239 (GRCm39)	N246K	probably benign	Het
Myom3	C	A	4: 135,506,707 (GRCm39)	N493K	probably benign	Het
Mypn	T	C	10: 62,981,969 (GRCm39)	D537G	probably benign	Het
Ncan	A	T	8: 70,567,998 (GRCm39)	M38K	possibly damaging	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Nos1	A	T	5: 118,043,527 (GRCm39)	N601Y	possibly damaging	Het
Nrxn2	G	A	19: 6,538,825 (GRCm39)	V794I	probably benign	Het
Or10q12	T	A	19: 13,746,088 (GRCm39)	Y127*	probably null	Het
Or13a17	T	A	7: 140,271,571 (GRCm39)	V251E	possibly damaging	Het
Or13c7b	A	T	4: 43,820,779 (GRCm39)	I194N	possibly damaging	Het
Or2y17	T	C	11: 49,232,211 (GRCm39)	L284P	probably damaging	Het
Or8h9	T	C	2: 86,789,425 (GRCm39)	I126V	probably damaging	Het
Parp4	T	C	14: 56,886,372 (GRCm39)	V1817A	unknown	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Ppp1r3c	T	C	19: 36,711,011 (GRCm39)	N253S	probably damaging	Het
Prdm5	A	G	6: 65,808,263 (GRCm39)	I42V	probably benign	Het
Prom2	T	G	2: 127,383,017 (GRCm39)	Q75P	probably damaging	Het
Ptpn23	T	C	9: 110,217,938 (GRCm39)	D669G	possibly damaging	Het
Rag1	T	C	2: 101,474,407 (GRCm39)	D245G	probably benign	Het
Rpl22l1	T	A	3: 28,860,747 (GRCm39)		probably null	Het
Sbno2	T	A	10: 79,894,473 (GRCm39)	K1067*	probably null	Het
Sec61g	A	G	11: 16,456,371 (GRCm39)		probably null	Het
Slc4a11	A	T	2: 130,529,932 (GRCm39)	M282K	probably benign	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Sparc	A	T	11: 55,297,334 (GRCm39)		probably null	Het
Thra	T	A	11: 98,646,977 (GRCm39)	C33S	probably damaging	Het
Trrap	A	T	5: 144,767,761 (GRCm39)	T2293S	probably benign	Het
Ttn	T	A	2: 76,724,989 (GRCm39)		probably benign	Het
Vat1l	T	A	8: 114,998,041 (GRCm39)	V195E	probably damaging	Het
Vmn1r60	T	A	7: 5,547,549 (GRCm39)	I184F	possibly damaging	Het
Wdfy4	A	G	14: 32,825,940 (GRCm39)	I1192T	probably damaging	Het
Zbtb10	T	C	3: 9,345,446 (GRCm39)	S737P	possibly damaging	Het
Zfp553	A	G	7: 126,834,517 (GRCm39)	E24G	probably benign	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	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
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'- AAATGCATTGATTCAGGGCAAC -3'
(R):5'- TCAGCCTAGGAACATCAGGC -3'

Sequencing Primer
(F):5'- AACTGTGTGCCCACCCCAG -3'
(R):5'- CTAGGAACATCAGGCCTGGGTG -3'

Posted On

2014-06-23