Mutagenetix > Incidental Mutation

Incidental Mutation 'R0660:Sars1'

208431

Institutional Source

Beutler Lab

Gene Symbol

Sars1

Ensembl Gene

ENSMUSG00000068739

Gene Name

seryl-tRNA synthetase 1

Synonyms

Sars, Strs

MMRRC Submission

038845-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0660 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

108332181-108352525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108338789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 247 (L247F)

Ref Sequence

ENSEMBL: ENSMUSP00000088041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090553] [ENSMUST00000102625] [ENSMUST00000132467] [ENSMUST00000153499]

AlphaFold

P26638

Predicted Effect

probably damaging
Transcript: ENSMUST00000090553
AA Change: L247F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088041
Gene: ENSMUSG00000068739
AA Change: L247F

Domain	Start	End	E-Value	Type
Pfam:Seryl_tRNA_N	2	113	1.5e-20	PFAM
Pfam:tRNA-synt_2b	203	386	4.1e-39	PFAM
low complexity region	481	497	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102625
AA Change: L247F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099685
Gene: ENSMUSG00000068739
AA Change: L247F

Domain	Start	End	E-Value	Type
Pfam:Seryl_tRNA_N	2	113	1.3e-22	PFAM
Pfam:tRNA-synt_2b	248	427	2.1e-41	PFAM
low complexity region	505	521	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000132467
AA Change: L199F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120879
Gene: ENSMUSG00000068739
AA Change: L199F

Domain	Start	End	E-Value	Type
Pfam:Seryl_tRNA_N	2	113	6.1e-23	PFAM
Pfam:tRNA-synt_2b	155	338	1.4e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153499

SMART Domains

Protein: ENSMUSP00000118676
Gene: ENSMUSG00000068739

Domain	Start	End	E-Value	Type
Pfam:Seryl_tRNA_N	2	113	1.5e-23	PFAM
PDB:3VBB\|F	150	187	3e-18	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197647

Meta Mutation Damage Score

0.3012

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

100% (43/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	T	C	17: 48,473,759 (GRCm39)	I53V	probably benign	Het
Abtb3	G	A	10: 85,224,234 (GRCm39)	A348T	possibly damaging	Het
Actr3	T	A	1: 125,336,304 (GRCm39)	I129L	probably benign	Het
Armcx2	G	A	X: 133,706,385 (GRCm39)	T416I	possibly damaging	Het
Aspm	T	A	1: 139,385,502 (GRCm39)	M382K	probably benign	Het
Cacna1b	A	G	2: 24,544,458 (GRCm39)	S1243P	probably damaging	Het
Cenpp	C	T	13: 49,618,173 (GRCm39)	R244Q	probably benign	Het
Dock2	A	G	11: 34,198,621 (GRCm39)	S1444P	probably damaging	Het
Fmo4	T	C	1: 162,637,417 (GRCm39)	N25S	probably benign	Het
Ipo8	A	T	6: 148,701,711 (GRCm39)	L466I	probably benign	Het
Or5p6	T	C	7: 107,630,822 (GRCm39)	T243A	probably damaging	Het
Pnpla6	T	C	8: 3,572,269 (GRCm39)		probably benign	Het
Prkcb	T	C	7: 122,024,182 (GRCm39)	V69A	possibly damaging	Het
Slco1a4	T	C	6: 141,758,467 (GRCm39)	I515V	probably benign	Het
Tanc1	A	T	2: 59,674,228 (GRCm39)	K1778*	probably null	Het
Zkscan3	A	T	13: 21,572,630 (GRCm39)	I167N	probably damaging	Het

Other mutations in Sars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Sars1	APN	3	108,334,174 (GRCm39)	missense	probably damaging	0.99
IGL02898:Sars1	APN	3	108,336,579 (GRCm39)	missense	probably damaging	1.00
R0749:Sars1	UTSW	3	108,335,582 (GRCm39)	missense	possibly damaging	0.95
R0855:Sars1	UTSW	3	108,334,248 (GRCm39)	missense	probably benign	0.07
R1249:Sars1	UTSW	3	108,343,251 (GRCm39)	missense	probably benign	0.14
R1540:Sars1	UTSW	3	108,340,461 (GRCm39)	missense	probably benign	0.01
R1659:Sars1	UTSW	3	108,336,732 (GRCm39)	missense	probably damaging	1.00
R1836:Sars1	UTSW	3	108,343,260 (GRCm39)	missense	probably benign	0.00
R2120:Sars1	UTSW	3	108,341,472 (GRCm39)	missense	probably benign	0.00
R3104:Sars1	UTSW	3	108,336,621 (GRCm39)	missense	probably damaging	1.00
R3105:Sars1	UTSW	3	108,336,621 (GRCm39)	missense	probably damaging	1.00
R6282:Sars1	UTSW	3	108,335,590 (GRCm39)	nonsense	probably null
R7224:Sars1	UTSW	3	108,335,519 (GRCm39)	missense	probably damaging	1.00
R7706:Sars1	UTSW	3	108,338,780 (GRCm39)	critical splice donor site	probably null
R8219:Sars1	UTSW	3	108,352,378 (GRCm39)	missense	probably benign	0.02
R8353:Sars1	UTSW	3	108,336,029 (GRCm39)	missense	probably benign	0.14
R8398:Sars1	UTSW	3	108,335,489 (GRCm39)	critical splice donor site	probably null
R8453:Sars1	UTSW	3	108,336,029 (GRCm39)	missense	probably benign	0.14
R9687:Sars1	UTSW	3	108,343,221 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CCCAGGATTCAATCCCTGCCTTAAC -3'
(R):5'- TTCTGACTGGGCTGGTGACAAGAC -3'

Sequencing Primer
(F):5'- gccaagaacagaagcatcag -3'
(R):5'- GGTGACAAGACTCAATCCCATTTG -3'

Posted On

2014-06-26