Incidental Mutation 'R4332:Farsb'
| ID |
323602 |
| 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 |
041099-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R4332 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
78394612-78465534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78445903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 159
(T159A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068333]
[ENSMUST00000170217]
[ENSMUST00000188247]
[ENSMUST00000189529]
[ENSMUST00000190441]
|
| AlphaFold |
Q9WUA2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068333
AA Change: T258A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000069508
Gene: ENSMUSG00000026245
AA Change: T258A
| 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 |
possibly damaging
Transcript: ENSMUST00000170217
AA Change: T258A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129828
Gene: ENSMUSG00000026245
AA Change: T258A
| 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 |
possibly damaging
Transcript: ENSMUST00000188247
AA Change: T159A
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139933
Gene: ENSMUSG00000026245
AA Change: T159A
| 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 |
0.2715 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (56/57) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
T |
C |
8: 106,436,356 (GRCm39) |
I175T |
possibly damaging |
Het |
| A2m |
A |
G |
6: 121,634,406 (GRCm39) |
D646G |
probably benign |
Het |
| Acat2 |
T |
C |
17: 13,181,782 (GRCm39) |
|
probably benign |
Het |
| Armc10 |
T |
A |
5: 21,866,579 (GRCm39) |
V281E |
probably damaging |
Het |
| Best3 |
T |
A |
10: 116,838,429 (GRCm39) |
F162L |
probably benign |
Het |
| Ces1g |
T |
C |
8: 94,046,446 (GRCm39) |
M360V |
probably benign |
Het |
| Chd7 |
G |
T |
4: 8,854,143 (GRCm39) |
R1905L |
probably damaging |
Het |
| Dhx36 |
C |
T |
3: 62,392,412 (GRCm39) |
R538Q |
probably damaging |
Het |
| Efna2 |
G |
A |
10: 80,024,315 (GRCm39) |
R161Q |
probably damaging |
Het |
| Fry |
C |
T |
5: 150,305,128 (GRCm39) |
A611V |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,808,201 (GRCm39) |
T1507A |
probably benign |
Het |
| Gm5592 |
G |
T |
7: 40,865,542 (GRCm39) |
|
probably benign |
Het |
| Gm7367 |
T |
C |
7: 59,805,364 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9312 |
A |
T |
12: 24,302,095 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfg |
A |
T |
7: 28,136,997 (GRCm39) |
M1L |
probably benign |
Het |
| Gpr149 |
C |
A |
3: 62,511,794 (GRCm39) |
L68F |
possibly damaging |
Het |
| Hmga2 |
T |
C |
10: 120,200,117 (GRCm39) |
|
probably benign |
Het |
| Il12a |
C |
A |
3: 68,602,594 (GRCm39) |
|
probably benign |
Het |
| Itprid1 |
G |
A |
6: 55,945,220 (GRCm39) |
G647D |
possibly damaging |
Het |
| Itsn2 |
T |
A |
12: 4,762,611 (GRCm39) |
M1597K |
possibly damaging |
Het |
| Kyat3 |
A |
G |
3: 142,431,187 (GRCm39) |
I154M |
probably damaging |
Het |
| Npas3 |
A |
C |
12: 54,108,852 (GRCm39) |
I419L |
probably damaging |
Het |
| Ogfrl1 |
T |
A |
1: 23,414,910 (GRCm39) |
Y199F |
probably damaging |
Het |
| Or14a259 |
A |
C |
7: 86,013,080 (GRCm39) |
V155G |
probably benign |
Het |
| Or5aq7 |
A |
G |
2: 86,938,089 (GRCm39) |
V214A |
possibly damaging |
Het |
| Or6b6 |
T |
C |
7: 106,571,354 (GRCm39) |
M66V |
probably benign |
Het |
| P2rx3 |
G |
A |
2: 84,855,205 (GRCm39) |
P84S |
probably benign |
Het |
| P3h3 |
A |
G |
6: 124,819,099 (GRCm39) |
V657A |
probably damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,908,393 (GRCm39) |
M553V |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,583 (GRCm39) |
F178S |
probably damaging |
Het |
| Plppr4 |
A |
T |
3: 117,116,474 (GRCm39) |
M403K |
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,102,288 (GRCm39) |
T1956M |
probably benign |
Het |
| Rbm12b1 |
G |
T |
4: 12,145,655 (GRCm39) |
K542N |
probably benign |
Het |
| Rdh8 |
C |
T |
9: 20,733,925 (GRCm39) |
A37V |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,327,502 (GRCm39) |
T1830A |
probably damaging |
Het |
| Sardh |
G |
T |
2: 27,105,126 (GRCm39) |
Q666K |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
T |
G |
11: 87,458,730 (GRCm39) |
L368R |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,297,294 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
G |
A |
6: 91,700,452 (GRCm39) |
G60D |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,569,996 (GRCm39) |
D134G |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,831,222 (GRCm39) |
T378A |
probably benign |
Het |
| Tmprss7 |
T |
G |
16: 45,506,690 (GRCm39) |
K124T |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,571,425 (GRCm39) |
L1128P |
probably damaging |
Het |
| Usp32 |
C |
T |
11: 84,994,804 (GRCm39) |
C36Y |
possibly damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,786,922 (GRCm39) |
T62S |
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,578,498 (GRCm39) |
Y136* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTACATTTGTAGTAGCTGAAAGC -3'
(R):5'- GGGAAATGATACATGCCCTATATCG -3'
Sequencing Primer
(F):5'- CCTGTATGAAGATCAATCAAGCTGC -3'
(R):5'- CATGCCCTATATCGAGGCATAGTTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation