Mutagenetix > Incidental Mutation

Incidental Mutation 'R5557:Farsb'

435424

Institutional Source

Beutler Lab

Gene Symbol

Farsb

Ensembl Gene

ENSMUSG00000026245

Gene Name

phenylalanyl-tRNA synthetase, beta subunit

Synonyms

Farslb, Farsl, Frsb, PheRS alpha

MMRRC Submission

043114-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R5557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78394612-78465534 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 78445888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068333] [ENSMUST00000170217] [ENSMUST00000188247] [ENSMUST00000188247] [ENSMUST00000189529] [ENSMUST00000190441]

AlphaFold

Q9WUA2

Predicted Effect

probably null
Transcript: ENSMUST00000068333

SMART Domains

Protein: ENSMUSP00000069508
Gene: ENSMUSG00000026245

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 null
Transcript: ENSMUST00000170217

SMART Domains

Protein: ENSMUSP00000129828
Gene: ENSMUSG00000026245

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 null
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 null
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: ENSMUST00000189931

Predicted Effect

probably benign
Transcript: ENSMUST00000190441

SMART Domains

Protein: ENSMUSP00000140934
Gene: ENSMUSG00000026245

Domain	Start	End	E-Value	Type
Blast:B3_4	89	128	3e-15	BLAST
Pfam:B3_4	150	206	1e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195509

Meta Mutation Damage Score

0.9585

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (72/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	A	19: 3,767,501 (GRCm39)	F363I	possibly damaging	Het
Abcb1a	T	A	5: 8,764,949 (GRCm39)	N646K	probably benign	Het
Abi2	C	A	1: 60,478,071 (GRCm39)		probably benign	Het
Adamts13	T	C	2: 26,863,651 (GRCm39)	S35P	probably benign	Het
B4galt3	A	G	1: 171,100,089 (GRCm39)		probably null	Het
Bag5	T	C	12: 111,676,524 (GRCm39)	N433S	probably benign	Het
Birc7	T	A	2: 180,574,772 (GRCm39)	V218D	probably benign	Het
Catsperg1	T	G	7: 28,895,296 (GRCm39)	N332T	possibly damaging	Het
Ccdc191	A	C	16: 43,728,976 (GRCm39)	T179P	probably damaging	Het
Col4a3	C	T	1: 82,692,968 (GRCm39)		probably benign	Het
Crlf1	A	G	8: 70,951,317 (GRCm39)	I65M	probably benign	Het
Dennd4a	T	G	9: 64,811,509 (GRCm39)	D1376E	probably benign	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dlg4	C	T	11: 69,933,106 (GRCm39)	P504L	probably damaging	Het
Dop1b	A	G	16: 93,560,819 (GRCm39)	T886A	probably damaging	Het
Dst	T	A	1: 34,321,667 (GRCm39)	V4394E	probably damaging	Het
Endov	T	C	11: 119,393,186 (GRCm39)	M112T	possibly damaging	Het
Eps8	T	C	6: 137,456,094 (GRCm39)	M796V	possibly damaging	Het
Fam107b	T	A	2: 3,771,791 (GRCm39)	Y7*	probably null	Het
Fasn	A	G	11: 120,703,252 (GRCm39)	M1591T	probably benign	Het
Fbn2	C	T	18: 58,248,731 (GRCm39)	A384T	probably benign	Het
Fnta	T	C	8: 26,489,564 (GRCm39)	D349G	probably damaging	Het
Glis3	G	T	19: 28,241,409 (GRCm39)	H842N	probably benign	Het
Gm17067	G	A	7: 42,357,945 (GRCm39)	P186S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hk3	A	T	13: 55,159,888 (GRCm39)	L362*	probably null	Het
Ing3	A	G	6: 21,968,908 (GRCm39)	H130R	possibly damaging	Het
Inpp4b	A	T	8: 82,678,888 (GRCm39)	Q306L	probably damaging	Het
Kcnq2	T	C	2: 180,776,690 (GRCm39)	K66E	probably benign	Het
Kif21b	C	A	1: 136,097,797 (GRCm39)	N1352K	probably damaging	Het
Lrig3	A	T	10: 125,808,003 (GRCm39)	N84Y	probably damaging	Het
Mill2	T	A	7: 18,589,884 (GRCm39)	Y55*	probably null	Het
Mmachc	T	C	4: 116,563,097 (GRCm39)	H86R	probably damaging	Het
Ncbp1	T	C	4: 46,165,259 (GRCm39)	V524A	probably benign	Het
Or10ag54	A	T	2: 87,099,736 (GRCm39)	T204S	possibly damaging	Het
Or1q1	T	A	2: 36,887,358 (GRCm39)	C179S	probably damaging	Het
Or4c102	G	A	2: 88,422,897 (GRCm39)	V250M	probably damaging	Het
Or5af1	G	A	11: 58,722,813 (GRCm39)	V278I	probably benign	Het
Or5b101	C	A	19: 13,005,004 (GRCm39)	A230S	probably benign	Het
Or7g19	T	C	9: 18,856,466 (GRCm39)	I174T	possibly damaging	Het
Pigu	G	T	2: 155,120,549 (GRCm39)	Y404*	probably null	Het
Plaa	A	T	4: 94,472,244 (GRCm39)		probably null	Het
Plcg2	A	T	8: 118,313,296 (GRCm39)	I487F	probably damaging	Het
Plekhh2	T	C	17: 84,867,580 (GRCm39)	I162T	probably benign	Het
Ptprz1	T	A	6: 23,001,000 (GRCm39)	V1030D	probably benign	Het
Raver2	C	A	4: 100,993,336 (GRCm39)	S505R	probably benign	Het
Samd7	A	T	3: 30,810,769 (GRCm39)	Q262L	probably benign	Het
Scn9a	T	A	2: 66,377,447 (GRCm39)	N412Y	probably damaging	Het
Sytl1	C	A	4: 132,986,667 (GRCm39)	R91M	probably damaging	Het
Tead3	A	T	17: 28,555,244 (GRCm39)		probably benign	Het
Tgm1	A	G	14: 55,943,100 (GRCm39)	M580T	probably benign	Het
Themis	A	T	10: 28,657,882 (GRCm39)	Q150L	possibly damaging	Het
Tmem213	T	C	6: 38,086,466 (GRCm39)	S41P	possibly damaging	Het
Tnks1bp1	T	C	2: 84,894,144 (GRCm39)	V695A	probably damaging	Het
Trim23	A	T	13: 104,324,017 (GRCm39)	T159S	probably damaging	Het
Trim66	T	C	7: 109,082,944 (GRCm39)	Y166C	probably benign	Het
Troap	A	T	15: 98,973,675 (GRCm39)	T111S	possibly damaging	Het
Ttn	T	C	2: 76,720,734 (GRCm39)		probably null	Het
Tub	T	G	7: 108,624,925 (GRCm39)	S180A	probably damaging	Het
Vcan	A	G	13: 89,851,231 (GRCm39)	V1243A	possibly damaging	Het
Zfp608	T	C	18: 55,120,942 (GRCm39)	D215G	possibly damaging	Het
Zfp638	T	A	6: 83,944,345 (GRCm39)	V1021E	probably damaging	Het
Zim1	T	A	7: 6,680,710 (GRCm39)	I318F	probably damaging	Het

Other mutations in Farsb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Farsb	APN	1	78,439,630 (GRCm39)	missense	probably benign	0.08
IGL01328:Farsb	APN	1	78,447,729 (GRCm39)	missense	probably benign	0.02
IGL01801:Farsb	APN	1	78,435,216 (GRCm39)	missense	probably benign	0.38
R0054:Farsb	UTSW	1	78,439,011 (GRCm39)	nonsense	probably null
R0054:Farsb	UTSW	1	78,439,011 (GRCm39)	nonsense	probably null
R1051:Farsb	UTSW	1	78,420,287 (GRCm39)	missense	possibly damaging	0.49
R1769:Farsb	UTSW	1	78,443,620 (GRCm39)	missense	probably benign	0.06
R4332:Farsb	UTSW	1	78,445,903 (GRCm39)	missense	possibly damaging	0.61
R4664:Farsb	UTSW	1	78,420,402 (GRCm39)	missense	possibly damaging	0.90
R4796:Farsb	UTSW	1	78,401,833 (GRCm39)	makesense	probably null
R4859:Farsb	UTSW	1	78,444,609 (GRCm39)	missense	probably benign	0.01
R5484:Farsb	UTSW	1	78,452,833 (GRCm39)	missense	probably damaging	1.00
R5500:Farsb	UTSW	1	78,447,761 (GRCm39)	missense	probably damaging	1.00
R6109:Farsb	UTSW	1	78,439,907 (GRCm39)	critical splice donor site	probably null
R6368:Farsb	UTSW	1	78,443,602 (GRCm39)	critical splice donor site	probably null
R6720:Farsb	UTSW	1	78,449,134 (GRCm39)	missense	probably damaging	1.00
R7166:Farsb	UTSW	1	78,447,821 (GRCm39)	missense	probably benign
R7184:Farsb	UTSW	1	78,458,994 (GRCm39)	missense	possibly damaging	0.86
R7233:Farsb	UTSW	1	78,447,718 (GRCm39)	critical splice donor site	probably null
R7536:Farsb	UTSW	1	78,420,391 (GRCm39)	missense	possibly damaging	0.89
R7753:Farsb	UTSW	1	78,456,740 (GRCm39)	missense	probably benign	0.25
R7824:Farsb	UTSW	1	78,445,936 (GRCm39)	missense	probably benign
R7916:Farsb	UTSW	1	78,435,200 (GRCm39)	critical splice donor site	probably null
R8120:Farsb	UTSW	1	78,439,475 (GRCm39)	missense	probably benign	0.00
R8517:Farsb	UTSW	1	78,439,933 (GRCm39)	nonsense	probably null
R8794:Farsb	UTSW	1	78,401,678 (GRCm39)	unclassified	probably benign
R9131:Farsb	UTSW	1	78,459,951 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTACATTTGTAGTAGCTGAAAGCAG -3'
(R):5'- GGGAAATGATACATGCCCTATATCG -3'

Sequencing Primer
(F):5'- CCTGTATGAAGATCAATCAAGCTGC -3'
(R):5'- CATGCCCTATATCGAGGCATAGTTG -3'

Posted On

2016-10-24