Incidental Mutation 'IGL00092:Farsb'
| ID |
1979 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Farsb
|
| Ensembl Gene |
ENSMUSG00000026245 |
| Gene Name |
phenylalanyl-tRNA synthetase, beta subunit |
| Synonyms |
Farslb, Farsl, Frsb, PheRS alpha |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
IGL00092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
78394612-78465534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78439630 bp (GRCm39)
|
| 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]
|
| AlphaFold |
Q9WUA2 |
| 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: 118,892,430 (GRCm39) |
D443G |
probably benign |
Het |
| Atg16l1 |
T |
C |
1: 87,693,119 (GRCm39) |
I28T |
possibly damaging |
Het |
| Bpi |
T |
A |
2: 158,116,716 (GRCm39) |
V371E |
probably damaging |
Het |
| Cd109 |
T |
G |
9: 78,524,251 (GRCm39) |
V55G |
probably damaging |
Het |
| Cd300c2 |
T |
C |
11: 114,892,375 (GRCm39) |
|
probably benign |
Het |
| Cic |
C |
T |
7: 24,991,549 (GRCm39) |
R1280C |
probably damaging |
Het |
| Cngb1 |
G |
A |
8: 95,968,812 (GRCm39) |
|
probably benign |
Het |
| Cntn4 |
G |
T |
6: 106,483,186 (GRCm39) |
C247F |
probably damaging |
Het |
| Disp3 |
C |
T |
4: 148,325,991 (GRCm39) |
V1256I |
probably benign |
Het |
| Fcnb |
T |
C |
2: 27,966,813 (GRCm39) |
N240S |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,127,162 (GRCm39) |
S5G |
possibly damaging |
Het |
| Git1 |
T |
C |
11: 77,396,783 (GRCm39) |
L635P |
probably benign |
Het |
| Gm21985 |
T |
G |
2: 112,181,679 (GRCm39) |
W685G |
probably damaging |
Het |
| Gpt2 |
T |
C |
8: 86,238,953 (GRCm39) |
V262A |
probably benign |
Het |
| Hecw2 |
A |
G |
1: 53,869,896 (GRCm39) |
V1444A |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,391,248 (GRCm39) |
V4017A |
probably benign |
Het |
| Klhl17 |
T |
C |
4: 156,318,147 (GRCm39) |
T129A |
possibly damaging |
Het |
| Krt84 |
T |
G |
15: 101,437,170 (GRCm39) |
D331A |
probably damaging |
Het |
| Lrrc9 |
C |
T |
12: 72,533,017 (GRCm39) |
T963M |
possibly damaging |
Het |
| Mtcl1 |
C |
T |
17: 66,651,314 (GRCm39) |
V935I |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Myocd |
T |
C |
11: 65,071,770 (GRCm39) |
|
probably null |
Het |
| Nid1 |
A |
G |
13: 13,650,977 (GRCm39) |
N505D |
probably damaging |
Het |
| Ninj1 |
A |
T |
13: 49,347,210 (GRCm39) |
|
probably null |
Het |
| Or14a260 |
C |
T |
7: 85,985,269 (GRCm39) |
V112I |
probably benign |
Het |
| Or1x6 |
C |
A |
11: 50,939,227 (GRCm39) |
Q98K |
probably benign |
Het |
| Or4d10c |
A |
T |
19: 12,065,357 (GRCm39) |
D266E |
probably benign |
Het |
| Plscr2 |
T |
A |
9: 92,172,685 (GRCm39) |
|
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,655,353 (GRCm39) |
T307A |
probably benign |
Het |
| Sart3 |
T |
C |
5: 113,884,730 (GRCm39) |
R625G |
probably benign |
Het |
| Sohlh2 |
T |
A |
3: 55,115,236 (GRCm39) |
L407H |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,178,492 (GRCm39) |
S877P |
probably damaging |
Het |
| Stat1 |
T |
C |
1: 52,161,754 (GRCm39) |
M1T |
probably null |
Het |
| Szt2 |
C |
T |
4: 118,241,447 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
G |
T |
7: 65,302,007 (GRCm39) |
|
probably null |
Het |
| Terb2 |
T |
A |
2: 122,028,867 (GRCm39) |
S141R |
probably benign |
Het |
| Tgfbrap1 |
T |
C |
1: 43,099,283 (GRCm39) |
Y177C |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,897,875 (GRCm39) |
I169N |
possibly damaging |
Het |
| Trim47 |
A |
G |
11: 115,997,020 (GRCm39) |
L578P |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
| Vmn2r90 |
T |
C |
17: 17,953,758 (GRCm39) |
S641P |
probably benign |
Het |
| Vwa5a |
T |
A |
9: 38,649,110 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,765,952 (GRCm39) |
I1493N |
probably benign |
Het |
|
| Other mutations in Farsb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2011-07-12 |
Incidental Mutation