Mutagenetix > Incidental Mutation

Incidental Mutation 'R1249:Sars1'

151697

Institutional Source

Beutler Lab

Gene Symbol

Sars1

Ensembl Gene

ENSMUSG00000068739

Gene Name

seryl-tRNA synthetase 1

Synonyms

Sars, Strs

MMRRC Submission

039316-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1249 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108332181-108352525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108343251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 80 (V80A)

Ref Sequence

ENSEMBL: ENSMUSP00000118676 (fasta)

Gene Model

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

AlphaFold

P26638

Predicted Effect

probably benign
Transcript: ENSMUST00000090553
AA Change: V80A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000088041
Gene: ENSMUSG00000068739
AA Change: V80A

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 benign
Transcript: ENSMUST00000102625
AA Change: V80A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099685
Gene: ENSMUSG00000068739
AA Change: V80A

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 benign
Transcript: ENSMUST00000132467
AA Change: V80A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000120879
Gene: ENSMUSG00000068739
AA Change: V80A

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
AA Change: V80A

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118676
Gene: ENSMUSG00000068739
AA Change: V80A

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

Validation Efficiency

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b2	A	C	3: 89,855,111 (GRCm39)	N586K	possibly damaging	Het
Clca3a2	T	C	3: 144,508,765 (GRCm39)	R685G	possibly damaging	Het
Cpxm2	A	G	7: 131,730,079 (GRCm39)		probably null	Het
Dsg4	A	T	18: 20,579,929 (GRCm39)	R45*	probably null	Het
Lama4	A	G	10: 38,951,474 (GRCm39)	E1073G	probably damaging	Het
Mug1	A	G	6: 121,826,420 (GRCm39)	I167V	probably benign	Het
Or4e2	G	A	14: 52,687,979 (GRCm39)	M36I	probably benign	Het
Prox1	C	T	1: 189,879,258 (GRCm39)	R640H	possibly damaging	Het
Rad50	T	A	11: 53,582,964 (GRCm39)	E476D	probably damaging	Het
Setd2	T	A	9: 110,402,948 (GRCm39)	M1863K	probably damaging	Het
Slc13a1	G	T	6: 24,133,649 (GRCm39)	P201Q	probably benign	Het
Taok1	A	C	11: 77,462,463 (GRCm39)	W209G	probably damaging	Het
Vmn1r217	T	A	13: 23,298,818 (GRCm39)	H28L	probably benign	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
R0660:Sars1	UTSW	3	108,338,789 (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
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'- TGGAGCTAACACAGGCCAACTAGG -3'
(R):5'- GCTCTCACCCGACAGGTTTATTGAC -3'

Sequencing Primer
(F):5'- CTCCTGTGACTAAGGAGTCTCAG -3'
(R):5'- ACTTGAAACTTGGATTTCTGGC -3'

Posted On

2014-01-29