Incidental Mutation 'IGL01328:Farsb'
| ID |
74357 |
| 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 # |
IGL01328
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
78394612-78465534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78447729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 236
(I236V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068333]
[ENSMUST00000170217]
[ENSMUST00000188247]
[ENSMUST00000189529]
[ENSMUST00000190441]
|
| AlphaFold |
Q9WUA2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068333
AA Change: I236V
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000069508
Gene: ENSMUSG00000026245
AA Change: I236V
| 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: I236V
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000129828
Gene: ENSMUSG00000026245
AA Change: I236V
| 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
AA Change: I137V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000139933
Gene: ENSMUSG00000026245
AA Change: I137V
| 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
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
C |
T |
18: 59,181,954 (GRCm39) |
S1131F |
possibly damaging |
Het |
| Alg14 |
G |
A |
3: 121,155,232 (GRCm39) |
V151I |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,206,019 (GRCm39) |
|
probably null |
Het |
| Arhgef28 |
A |
T |
13: 98,106,831 (GRCm39) |
C698S |
probably damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,354,637 (GRCm39) |
H247R |
probably damaging |
Het |
| Clec12b |
A |
T |
6: 129,356,517 (GRCm39) |
W216R |
probably damaging |
Het |
| Clnk |
C |
T |
5: 38,941,871 (GRCm39) |
S35N |
possibly damaging |
Het |
| Cnot4 |
T |
A |
6: 35,055,049 (GRCm39) |
N80I |
probably damaging |
Het |
| Cntn5 |
C |
T |
9: 9,781,773 (GRCm39) |
M635I |
probably damaging |
Het |
| Dlg5 |
A |
G |
14: 24,252,419 (GRCm39) |
V107A |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,181,343 (GRCm39) |
F155I |
probably damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,006,739 (GRCm39) |
I254V |
probably damaging |
Het |
| Dzip3 |
A |
T |
16: 48,792,621 (GRCm39) |
D221E |
probably damaging |
Het |
| F13b |
T |
A |
1: 139,435,820 (GRCm39) |
|
probably benign |
Het |
| Fam131b |
G |
A |
6: 42,295,206 (GRCm39) |
L324F |
probably damaging |
Het |
| Fam83a |
A |
T |
15: 57,849,901 (GRCm39) |
R148S |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,034,807 (GRCm39) |
F2820I |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,944,140 (GRCm39) |
V1011E |
probably damaging |
Het |
| Fgf7 |
A |
G |
2: 125,930,164 (GRCm39) |
E99G |
probably damaging |
Het |
| Fign |
T |
C |
2: 63,809,216 (GRCm39) |
T685A |
probably damaging |
Het |
| Fubp1 |
G |
A |
3: 151,925,855 (GRCm39) |
G289E |
probably damaging |
Het |
| Gata6 |
G |
T |
18: 11,064,530 (GRCm39) |
M477I |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,637,673 (GRCm39) |
Y249C |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,807,904 (GRCm39) |
D1768G |
probably damaging |
Het |
| Htatip2 |
T |
A |
7: 49,420,697 (GRCm39) |
|
probably null |
Het |
| Irs2 |
C |
A |
8: 11,054,792 (GRCm39) |
Q1213H |
probably damaging |
Het |
| Jak3 |
C |
T |
8: 72,132,264 (GRCm39) |
R210C |
probably damaging |
Het |
| Klk1b27 |
T |
C |
7: 43,705,303 (GRCm39) |
S157P |
probably damaging |
Het |
| Klri1 |
T |
C |
6: 129,675,800 (GRCm39) |
S157G |
probably damaging |
Het |
| Mtmr2 |
G |
T |
9: 13,713,223 (GRCm39) |
G395* |
probably null |
Het |
| Mx1 |
T |
A |
16: 97,256,832 (GRCm39) |
I116F |
probably damaging |
Het |
| Oip5 |
A |
C |
2: 119,442,314 (GRCm39) |
M200R |
possibly damaging |
Het |
| Or10ag56 |
T |
A |
2: 87,139,925 (GRCm39) |
L284Q |
possibly damaging |
Het |
| Or10g3 |
T |
C |
14: 52,609,967 (GRCm39) |
D181G |
probably damaging |
Het |
| Or4b1d |
T |
C |
2: 89,969,418 (GRCm39) |
K22E |
probably benign |
Het |
| Or4k39 |
A |
G |
2: 111,239,564 (GRCm39) |
Y268C |
probably damaging |
Het |
| Pamr1 |
T |
A |
2: 102,472,482 (GRCm39) |
S594T |
probably benign |
Het |
| Phf13 |
C |
T |
4: 152,080,285 (GRCm39) |
E13K |
probably benign |
Het |
| Plekha6 |
A |
T |
1: 133,200,074 (GRCm39) |
|
probably null |
Het |
| Rad17 |
A |
C |
13: 100,754,311 (GRCm39) |
N636K |
probably benign |
Het |
| Rad21 |
T |
A |
15: 51,836,520 (GRCm39) |
D217V |
probably damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,885,917 (GRCm39) |
D4G |
possibly damaging |
Het |
| Stc1 |
A |
G |
14: 69,275,726 (GRCm39) |
D173G |
probably benign |
Het |
| Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
| Tex15 |
C |
T |
8: 34,061,424 (GRCm39) |
Q559* |
probably null |
Het |
| Trim44 |
T |
A |
2: 102,230,365 (GRCm39) |
E222V |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,981,767 (GRCm39) |
E2343G |
possibly damaging |
Het |
| Vmn2r86 |
T |
C |
10: 130,288,365 (GRCm39) |
T379A |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,545,819 (GRCm39) |
T564A |
probably benign |
Het |
| Vsir |
C |
A |
10: 60,203,539 (GRCm39) |
|
probably benign |
Het |
| Vwc2l |
T |
A |
1: 70,768,163 (GRCm39) |
|
probably null |
Het |
| Xrn2 |
T |
C |
2: 146,871,850 (GRCm39) |
V396A |
possibly damaging |
Het |
| Zbbx |
T |
A |
3: 75,000,382 (GRCm39) |
K208* |
probably null |
Het |
| Zfhx4 |
C |
A |
3: 5,309,344 (GRCm39) |
L857M |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,800,904 (GRCm39) |
D53G |
probably benign |
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 |
|
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 |
2013-10-07 |
Incidental Mutation