Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00092:Farsb'

1979

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Farsb

Ensembl Gene

ENSMUSG00000026245

Gene Name

phenylalanyl-tRNA synthetase, beta subunit

Synonyms

Farsl, Frsb, PheRS alpha, Farslb

Accession Numbers

Ncbi RefSeq: NM_011811.3; MGI: 1346035

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

IGL00092

Quality Score

Status

Chromosome

Chromosomal Location

78417975-78488897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78462993 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 338 (S338T)

Ref Sequence

ENSEMBL: ENSMUSP00000129828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068333] [ENSMUST00000170217] [ENSMUST00000188247] [ENSMUST00000189529]

Predicted Effect

probably benign
Transcript: ENSMUST00000068333
AA Change: S338T

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000069508
Gene: ENSMUSG00000026245
AA Change: S338T

Domain	Start	End	E-Value	Type
Blast:B3_4	56	95	6e-14	BLAST
B3_4	117	279	3.29e-29	SMART
B5	304	374	6.31e-17	SMART
SCOP:d1jjcb5	377	586	1e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170217
AA Change: S338T

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000129828
Gene: ENSMUSG00000026245
AA Change: S338T

Domain	Start	End	E-Value	Type
Blast:B3_4	56	95	6e-14	BLAST
B3_4	117	279	3.29e-29	SMART
B5	304	374	6.31e-17	SMART
SCOP:d1jjcb5	377	586	1e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188247

SMART Domains

Protein: ENSMUSP00000139933
Gene: ENSMUSG00000026245

Domain	Start	End	E-Value	Type
B3_4	18	180	2.5e-33	SMART
SCOP:d1jjcb2	204	237	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189529

SMART Domains

Protein: ENSMUSP00000140001
Gene: ENSMUSG00000026245

Domain	Start	End	E-Value	Type
PDB:3L4G\|P	1	38	3e-20	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195509

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 a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Allele List at MGI

All alleles(15) : Targeted(2) Gene trapped(13)

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,928,695	D443G	probably benign	Het
Atg16l1	T	C	1: 87,765,397	I28T	possibly damaging	Het
Bpi	T	A	2: 158,274,796	V371E	probably damaging	Het
Cd109	T	G	9: 78,616,969	V55G	probably damaging	Het
Cd300c2	T	C	11: 115,001,549		probably benign	Het
Cic	C	T	7: 25,292,124	R1280C	probably damaging	Het
Cngb1	G	A	8: 95,242,184		probably benign	Het
Cntn4	G	T	6: 106,506,225	C247F	probably damaging	Het
Disp3	C	T	4: 148,241,534	V1256I	probably benign	Het
Fcnb	T	C	2: 28,076,801	N240S	probably benign	Het
Flg2	A	G	3: 93,219,855	S5G	possibly damaging	Het
Git1	T	C	11: 77,505,957	L635P	probably benign	Het
Gm21985	T	G	2: 112,351,334	W685G	probably damaging	Het
Gpt2	T	C	8: 85,512,324	V262A	probably benign	Het
Hecw2	A	G	1: 53,830,737	V1444A	probably damaging	Het
Herc1	T	C	9: 66,483,966	V4017A	probably benign	Het
Klhl17	T	C	4: 156,233,690	T129A	possibly damaging	Het
Krt84	T	G	15: 101,528,735	D331A	probably damaging	Het
Lrrc9	C	T	12: 72,486,243	T963M	possibly damaging	Het
Mtcl1	C	T	17: 66,344,319	V935I	probably benign	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Myocd	T	C	11: 65,180,944		probably null	Het
Nid1	A	G	13: 13,476,392	N505D	probably damaging	Het
Ninj1	A	T	13: 49,193,734		probably null	Het
Olfr1375	C	A	11: 51,048,400	Q98K	probably benign	Het
Olfr1426	A	T	19: 12,087,993	D266E	probably benign	Het
Olfr307	C	T	7: 86,336,061	V112I	probably benign	Het
Plscr2	T	A	9: 92,290,632		probably benign	Het
Ppfia2	A	G	10: 106,819,492	T307A	probably benign	Het
Sart3	T	C	5: 113,746,669	R625G	probably benign	Het
Sohlh2	T	A	3: 55,207,815	L407H	probably damaging	Het
Sorcs1	A	G	19: 50,190,054	S877P	probably damaging	Het
Stat1	T	C	1: 52,122,595	M1T	probably null	Het
Szt2	C	T	4: 118,384,250		probably benign	Het
Tarsl2	G	T	7: 65,652,259		probably null	Het
Terb2	T	A	2: 122,198,386	S141R	probably benign	Het
Tgfbrap1	T	C	1: 43,060,123	Y177C	probably damaging	Het
Trappc9	A	T	15: 73,026,026	I169N	possibly damaging	Het
Trim47	A	G	11: 116,106,194	L578P	probably damaging	Het
Usp34	G	A	11: 23,436,020	R2149H	probably damaging	Het
Vmn2r90	T	C	17: 17,733,496	S641P	probably benign	Het
Vwa5a	T	A	9: 38,737,814		probably null	Het
Zzef1	T	A	11: 72,875,126	I1493N	probably benign	Het

Other mutations in Farsb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Farsb	APN	1	78471092	missense	probably benign	0.02
IGL01801:Farsb	APN	1	78458579	missense	probably benign	0.38
R0054:Farsb	UTSW	1	78462374	nonsense	probably null
R0054:Farsb	UTSW	1	78462374	nonsense	probably null
R1051:Farsb	UTSW	1	78443650	missense	possibly damaging	0.49
R1769:Farsb	UTSW	1	78466983	missense	probably benign	0.06
R4332:Farsb	UTSW	1	78469266	missense	possibly damaging	0.61
R4664:Farsb	UTSW	1	78443765	missense	possibly damaging	0.90
R4796:Farsb	UTSW	1	78425196	makesense	probably null
R4859:Farsb	UTSW	1	78467972	missense	probably benign	0.01
R5484:Farsb	UTSW	1	78476196	missense	probably damaging	1.00
R5500:Farsb	UTSW	1	78471124	missense	probably damaging	1.00
R5557:Farsb	UTSW	1	78469251	critical splice donor site	probably null
R6109:Farsb	UTSW	1	78463270	critical splice donor site	probably null
R6368:Farsb	UTSW	1	78466965	critical splice donor site	probably null
R6720:Farsb	UTSW	1	78472497	missense	probably damaging	1.00
R7166:Farsb	UTSW	1	78471184	missense	probably benign
R7184:Farsb	UTSW	1	78482357	missense	possibly damaging	0.86
R7233:Farsb	UTSW	1	78471081	critical splice donor site	probably null
R7536:Farsb	UTSW	1	78443754	missense	possibly damaging	0.89
R7753:Farsb	UTSW	1	78480103	missense	probably benign	0.25
R7824:Farsb	UTSW	1	78469299	missense	probably benign
R7916:Farsb	UTSW	1	78458563	critical splice donor site	probably null
R8120:Farsb	UTSW	1	78462838	missense	probably benign	0.00
R8517:Farsb	UTSW	1	78463296	nonsense	probably null

Posted On

2011-07-12