Incidental Mutation 'R0054:Farsb'
| ID |
17346 |
| 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 |
038348-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R0054 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
78394612-78465534 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 78439011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 395
(K395*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068333]
[ENSMUST00000170217]
[ENSMUST00000188247]
[ENSMUST00000189529]
|
| AlphaFold |
Q9WUA2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068333
AA Change: K395*
|
| SMART Domains |
Protein: ENSMUSP00000069508
Gene: ENSMUSG00000026245
AA Change: K395*
| 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
AA Change: K395*
|
| SMART Domains |
Protein: ENSMUSP00000129828
Gene: ENSMUSG00000026245
AA Change: K395*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 88.8%
- 3x: 85.6%
- 10x: 76.3%
- 20x: 59.9%
|
| Validation Efficiency |
96% (91/95) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,547,500 (GRCm39) |
|
probably null |
Het |
| Apoa4 |
A |
G |
9: 46,153,822 (GRCm39) |
D141G |
probably benign |
Het |
| Atg9a |
T |
C |
1: 75,161,143 (GRCm39) |
Y701C |
probably damaging |
Het |
| Baz2b |
C |
T |
2: 59,762,510 (GRCm39) |
R922Q |
probably damaging |
Het |
| Bmal2 |
T |
G |
6: 146,731,216 (GRCm39) |
V507G |
probably benign |
Het |
| Brms1 |
T |
A |
19: 5,096,727 (GRCm39) |
C136* |
probably null |
Het |
| Ccdc180 |
T |
A |
4: 45,890,900 (GRCm39) |
V24E |
probably benign |
Het |
| Clec4f |
C |
T |
6: 83,629,911 (GRCm39) |
V216M |
probably benign |
Het |
| Cpd |
C |
G |
11: 76,681,664 (GRCm39) |
G1160R |
probably damaging |
Het |
| Creb5 |
A |
G |
6: 53,424,642 (GRCm39) |
M128V |
probably benign |
Het |
| Ddb2 |
G |
T |
2: 91,065,165 (GRCm39) |
Q87K |
probably benign |
Het |
| Defb41 |
A |
G |
1: 18,321,471 (GRCm39) |
Y48H |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,303,267 (GRCm39) |
N1546D |
probably benign |
Het |
| Dmac1 |
A |
G |
4: 75,196,337 (GRCm39) |
V51A |
possibly damaging |
Het |
| Dnajb11 |
C |
T |
16: 22,681,369 (GRCm39) |
A49V |
probably damaging |
Het |
| Dnajc14 |
G |
A |
10: 128,643,448 (GRCm39) |
D457N |
probably damaging |
Het |
| Eif3a |
C |
A |
19: 60,755,264 (GRCm39) |
D973Y |
unknown |
Het |
| Fem1b |
A |
G |
9: 62,704,082 (GRCm39) |
S393P |
probably damaging |
Het |
| Fsip2 |
A |
C |
2: 82,817,299 (GRCm39) |
N4344T |
possibly damaging |
Het |
| Gphn |
A |
G |
12: 78,684,277 (GRCm39) |
S558G |
probably damaging |
Het |
| Gpr142 |
C |
A |
11: 114,689,755 (GRCm39) |
H2Q |
probably benign |
Het |
| Grhpr |
T |
C |
4: 44,988,915 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
C |
A |
4: 125,517,368 (GRCm39) |
N70K |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,455,933 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
T |
A |
13: 49,846,611 (GRCm39) |
C237S |
probably damaging |
Het |
| Ighv1-9 |
A |
T |
12: 114,547,602 (GRCm39) |
F7L |
probably benign |
Het |
| Ints8 |
A |
G |
4: 11,204,595 (GRCm39) |
|
probably benign |
Het |
| Kcnj16 |
G |
T |
11: 110,915,549 (GRCm39) |
W70C |
probably damaging |
Het |
| Kpna6 |
T |
C |
4: 129,551,251 (GRCm39) |
M85V |
probably benign |
Het |
| Kri1 |
G |
A |
9: 21,186,661 (GRCm39) |
S447L |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,632,829 (GRCm39) |
V3528A |
probably benign |
Het |
| Lrrc46 |
A |
T |
11: 96,929,605 (GRCm39) |
L77Q |
probably damaging |
Het |
| Mrpl44 |
T |
C |
1: 79,757,212 (GRCm39) |
L219S |
probably damaging |
Het |
| Ms4a14 |
T |
C |
19: 11,281,303 (GRCm39) |
I418M |
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,714,905 (GRCm39) |
D112G |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,897,098 (GRCm39) |
T630A |
possibly damaging |
Het |
| Nsl1 |
T |
C |
1: 190,814,381 (GRCm39) |
L194P |
probably damaging |
Het |
| Or5ac23 |
T |
C |
16: 59,149,428 (GRCm39) |
Y148C |
possibly damaging |
Het |
| Or8u10 |
T |
C |
2: 85,915,705 (GRCm39) |
K139E |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,876,955 (GRCm39) |
S159G |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,142,978 (GRCm39) |
R845G |
probably null |
Het |
| Pld1 |
A |
G |
3: 28,150,033 (GRCm39) |
|
probably benign |
Het |
| Psd |
T |
A |
19: 46,311,781 (GRCm39) |
I300F |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 22,986,195 (GRCm39) |
W332R |
probably damaging |
Het |
| Rnf212 |
T |
A |
5: 108,893,530 (GRCm39) |
M70L |
possibly damaging |
Het |
| Sema4f |
A |
G |
6: 82,896,674 (GRCm39) |
|
probably benign |
Het |
| Sez6 |
C |
A |
11: 77,844,699 (GRCm39) |
T7K |
possibly damaging |
Het |
| Skint2 |
T |
C |
4: 112,502,660 (GRCm39) |
I290T |
probably benign |
Het |
| Slc5a3 |
T |
A |
16: 91,874,522 (GRCm39) |
I193N |
probably damaging |
Het |
| Snip1 |
T |
A |
4: 124,966,633 (GRCm39) |
Y354* |
probably null |
Het |
| Tmco5 |
A |
G |
2: 116,717,768 (GRCm39) |
Y200C |
probably damaging |
Het |
| Tmem87b |
T |
A |
2: 128,673,361 (GRCm39) |
|
probably benign |
Het |
| Trim60 |
T |
C |
8: 65,453,973 (GRCm39) |
E92G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,626,804 (GRCm39) |
D13067E |
possibly damaging |
Het |
| Ufl1 |
A |
T |
4: 25,269,087 (GRCm39) |
I168N |
probably damaging |
Het |
| Zfp385c |
G |
A |
11: 100,520,782 (GRCm39) |
P293S |
probably benign |
Het |
| Zfp473 |
T |
A |
7: 44,383,899 (GRCm39) |
S144C |
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 |
|
|
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 |
|
R5557:Farsb
|
UTSW |
1 |
78,445,888 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
| Protein Function and Prediction |
Farsb encodes FARSB, the regulatory beta subunit of the cytoplasmic phenylalanine-tRNA synthetase (1).
|
| Expression/Localization |
Northern blot analysis detected a 2.4-kb FARSB transcript in heart, brain, placenta, skeletal muscle, kidney, and pancreas (1). FARSB expression was stronger in malignant cell lines compared to normal tissue lines (1).
|
| References |
|
| Posted On |
2013-01-20 |
| Science Writer |
Anne Murray |
Incidental Mutation