Mutagenetix > Incidental Mutation

Incidental Mutation 'R1659:Sars1'

186574

Institutional Source

Beutler Lab

Gene Symbol

Sars1

Ensembl Gene

ENSMUSG00000068739

Gene Name

seryl-tRNA synthetase 1

Synonyms

Sars, Strs

MMRRC Submission

039695-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1659 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

108332181-108352525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108336732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 217 (E217G)

Ref Sequence

ENSEMBL: ENSMUSP00000120879 (fasta)

Gene Model

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

AlphaFold

P26638

Predicted Effect

probably damaging
Transcript: ENSMUST00000090553
AA Change: E265G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088041
Gene: ENSMUSG00000068739
AA Change: E265G

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: E265G

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099685
Gene: ENSMUSG00000068739
AA Change: E265G

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: E217G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120879
Gene: ENSMUSG00000068739
AA Change: E217G

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: E165G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000118676
Gene: ENSMUSG00000068739
AA Change: E165G

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: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.4%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,114,633 (GRCm39)	L87Q	probably damaging	Het
Atp13a5	T	G	16: 29,112,251 (GRCm39)	D630A	probably benign	Het
Brd7	G	T	8: 89,060,420 (GRCm39)	P568T	probably damaging	Het
Ccdc141	A	G	2: 76,885,027 (GRCm39)	L538P	probably benign	Het
Cd177	G	T	7: 24,445,562 (GRCm39)	T627K	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdhr2	T	A	13: 54,867,574 (GRCm39)	I468N	probably damaging	Het
Cdk14	T	C	5: 4,999,571 (GRCm39)	T338A	probably benign	Het
Celsr2	G	A	3: 108,321,411 (GRCm39)	T467I	probably benign	Het
Chrd	A	G	16: 20,554,581 (GRCm39)	E380G	probably damaging	Het
Cnnm4	C	A	1: 36,511,246 (GRCm39)	T158N	probably benign	Het
Ddx51	T	A	5: 110,802,986 (GRCm39)	I254N	probably damaging	Het
Deptor	G	A	15: 55,081,670 (GRCm39)		probably null	Het
Dnah11	T	A	12: 118,084,459 (GRCm39)	H1215L	possibly damaging	Het
Dock1	A	G	7: 134,390,972 (GRCm39)	Y744C	probably damaging	Het
Dok7	C	T	5: 35,236,483 (GRCm39)	T257I	possibly damaging	Het
Eif4g1	T	C	16: 20,499,811 (GRCm39)	Y591H	probably damaging	Het
Fat3	T	C	9: 15,908,479 (GRCm39)	T2508A	possibly damaging	Het
Gm266	A	G	12: 111,451,723 (GRCm39)	V161A	probably damaging	Het
Golgb1	A	G	16: 36,707,979 (GRCm39)	I107V	probably benign	Het
Gpnmb	T	C	6: 49,024,786 (GRCm39)	F273L	probably damaging	Het
Hcn1	A	T	13: 118,112,610 (GRCm39)	Q858L	probably damaging	Het
Hcrtr1	G	T	4: 130,029,129 (GRCm39)	Y224*	probably null	Het
Hepacam	A	G	9: 37,291,954 (GRCm39)	D94G	probably benign	Het
Herc2	T	A	7: 55,784,853 (GRCm39)	H1432Q	probably benign	Het
Il20	T	A	1: 130,836,086 (GRCm39)		probably null	Het
Itga10	A	G	3: 96,570,293 (GRCm39)	T1150A	probably damaging	Het
Itgax	C	T	7: 127,730,063 (GRCm39)	T73I	probably benign	Het
Kdm6b	T	A	11: 69,298,414 (GRCm39)	Q98L	possibly damaging	Het
Lrrc7	A	G	3: 157,867,045 (GRCm39)	W899R	probably damaging	Het
Meikin	C	A	11: 54,281,392 (GRCm39)	S154*	probably null	Het
Mrgprg	A	T	7: 143,318,288 (GRCm39)	S275T	possibly damaging	Het
Mstn	C	T	1: 53,103,236 (GRCm39)	R191*	probably null	Het
Neu3	A	G	7: 99,462,640 (GRCm39)	I361T	probably damaging	Het
Nrxn3	A	G	12: 90,299,165 (GRCm39)	D425G	probably damaging	Het
Nup205	T	A	6: 35,211,723 (GRCm39)	M1688K	probably benign	Het
Omg	C	T	11: 79,393,726 (GRCm39)	C44Y	possibly damaging	Het
Or1d2	A	T	11: 74,255,759 (GRCm39)	Q88L	probably benign	Het
Or52n3	A	G	7: 104,530,387 (GRCm39)	M158V	probably benign	Het
Pcdh8	T	C	14: 80,005,574 (GRCm39)	D938G	probably damaging	Het
Pp2d1	T	C	17: 53,822,406 (GRCm39)	D220G	possibly damaging	Het
Prune2	C	T	19: 17,098,015 (GRCm39)	T1173I	possibly damaging	Het
Rbfox3	T	C	11: 118,384,981 (GRCm39)	T359A	probably damaging	Het
Rhpn2	A	G	7: 35,076,466 (GRCm39)	Y339C	probably damaging	Het
Rpl7a-ps3	A	G	15: 36,308,309 (GRCm39)		noncoding transcript	Het
Sec61a2	A	G	2: 5,891,345 (GRCm39)	F62S	possibly damaging	Het
Slc12a7	T	A	13: 73,938,790 (GRCm39)	I189N	probably damaging	Het
Slc5a10	G	A	11: 61,567,070 (GRCm39)	A375V	possibly damaging	Het
Srfbp1	C	T	18: 52,621,967 (GRCm39)	H343Y	possibly damaging	Het
Tbck	T	G	3: 132,440,116 (GRCm39)	I486M	probably damaging	Het
Thra	G	A	11: 98,647,805 (GRCm39)	A60T	probably damaging	Het
Thsd7a	T	A	6: 12,504,063 (GRCm39)	T364S	possibly damaging	Het
Ttc16	C	T	2: 32,652,547 (GRCm39)	D761N	probably benign	Het
Vwa7	T	C	17: 35,238,047 (GRCm39)	L216P	probably benign	Het
Ydjc	T	C	16: 16,965,703 (GRCm39)	V156A	possibly 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
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
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
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'- TGATGGACTCGGAAGATACCACGG -3'
(R):5'- TGTTGTACATCTGCCAGCATTGACC -3'

Sequencing Primer
(F):5'- AGATACCACGGGTGTCACG -3'
(R):5'- ctctacatagcccaagctgac -3'

Posted On

2014-05-09