Incidental Mutation 'IGL02273:Farsa'
| ID |
287242 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Farsa
|
| Ensembl Gene |
ENSMUSG00000003808 |
| Gene Name |
phenylalanyl-tRNA synthetase, alpha subunit |
| Synonyms |
0610012A19Rik, Farsla |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02273
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85583618-85595886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85594455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 368
(A368V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003906]
[ENSMUST00000003922]
[ENSMUST00000109754]
[ENSMUST00000136026]
[ENSMUST00000156970]
[ENSMUST00000170296]
|
| AlphaFold |
Q8C0C7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003906
AA Change: A368V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003906
Gene: ENSMUSG00000003808
AA Change: A368V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_2d
|
209 |
488 |
5.2e-92 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003922
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109754
AA Change: A367V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105376
Gene: ENSMUSG00000003808
AA Change: A367V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_2b
|
126 |
413 |
2.1e-8 |
PFAM |
|
Pfam:tRNA-synt_2d
|
209 |
487 |
8.5e-95 |
PFAM |
|
Pfam:tRNA-synt_2
|
336 |
437 |
1e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129595
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136026
|
| SMART Domains |
Protein: ENSMUSP00000122159
Gene: ENSMUSG00000003824
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
52 |
83 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144466
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156970
|
| SMART Domains |
Protein: ENSMUSP00000120609
Gene: ENSMUSG00000003808
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HTH_11
|
6 |
57 |
3.1e-7 |
PFAM |
|
low complexity region
|
70 |
82 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170296
|
| SMART Domains |
Protein: ENSMUSP00000131438
Gene: ENSMUSG00000003824
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
58 |
89 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
T |
C |
7: 126,429,931 (GRCm39) |
T89A |
probably benign |
Het |
| Amhr2 |
T |
C |
15: 102,360,924 (GRCm39) |
V353A |
probably benign |
Het |
| Bbox1 |
A |
T |
2: 110,105,961 (GRCm39) |
Y194* |
probably null |
Het |
| Bltp1 |
T |
A |
3: 36,975,586 (GRCm39) |
|
probably benign |
Het |
| Bnipl |
C |
A |
3: 95,153,086 (GRCm39) |
R131L |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,643,974 (GRCm39) |
S1016P |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,867,657 (GRCm39) |
I88M |
possibly damaging |
Het |
| Cyp24a1 |
A |
T |
2: 170,338,278 (GRCm39) |
Y89N |
probably damaging |
Het |
| Ddx25 |
G |
T |
9: 35,458,122 (GRCm39) |
N332K |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,163,671 (GRCm39) |
Q348* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,550,494 (GRCm39) |
I3264N |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,763,808 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,403,368 (GRCm39) |
Y40H |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,734,208 (GRCm39) |
|
probably benign |
Het |
| Gm5422 |
A |
G |
10: 31,126,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr135 |
A |
G |
12: 72,116,732 (GRCm39) |
I345T |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,314,389 (GRCm39) |
V3616I |
probably benign |
Het |
| Kif9 |
A |
T |
9: 110,339,538 (GRCm39) |
K460M |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,353,922 (GRCm39) |
E426G |
probably benign |
Het |
| Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
| Nfkb1 |
A |
T |
3: 135,310,968 (GRCm39) |
C444S |
probably benign |
Het |
| Pfkfb2 |
G |
A |
1: 130,635,319 (GRCm39) |
R81C |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,327 (GRCm39) |
V526A |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,511,874 (GRCm39) |
V951E |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,226,809 (GRCm39) |
L1026Q |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,247,156 (GRCm39) |
N263S |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,226,990 (GRCm39) |
F659I |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,075,108 (GRCm39) |
I69M |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,808,690 (GRCm39) |
H161R |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,035,273 (GRCm39) |
|
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,321 (GRCm39) |
V536A |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,476,772 (GRCm39) |
S84P |
possibly damaging |
Het |
| Tacc1 |
A |
C |
8: 25,649,797 (GRCm39) |
L768V |
probably damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,986,531 (GRCm39) |
I5N |
probably benign |
Het |
| Tmc2 |
A |
G |
2: 130,071,126 (GRCm39) |
D285G |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trmt44 |
T |
C |
5: 35,731,457 (GRCm39) |
Y190C |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,199,889 (GRCm39) |
R4591H |
possibly damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,263,004 (GRCm39) |
D1739E |
probably benign |
Het |
| Zfp26 |
A |
G |
9: 20,352,744 (GRCm39) |
V107A |
probably damaging |
Het |
|
| Other mutations in Farsa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Farsa
|
APN |
8 |
85,590,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0006:Farsa
|
UTSW |
8 |
85,587,934 (GRCm39) |
splice site |
probably benign |
|
|
R0599:Farsa
|
UTSW |
8 |
85,594,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0727:Farsa
|
UTSW |
8 |
85,587,933 (GRCm39) |
splice site |
probably null |
|
|
R1933:Farsa
|
UTSW |
8 |
85,587,780 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4021:Farsa
|
UTSW |
8 |
85,595,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5127:Farsa
|
UTSW |
8 |
85,595,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5975:Farsa
|
UTSW |
8 |
85,591,061 (GRCm39) |
splice site |
probably null |
|
|
R6307:Farsa
|
UTSW |
8 |
85,587,674 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6476:Farsa
|
UTSW |
8 |
85,583,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7226:Farsa
|
UTSW |
8 |
85,590,689 (GRCm39) |
missense |
probably benign |
|
|
R7252:Farsa
|
UTSW |
8 |
85,587,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Farsa
|
UTSW |
8 |
85,594,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7773:Farsa
|
UTSW |
8 |
85,590,781 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8033:Farsa
|
UTSW |
8 |
85,594,198 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8235:Farsa
|
UTSW |
8 |
85,595,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8280:Farsa
|
UTSW |
8 |
85,587,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8984:Farsa
|
UTSW |
8 |
85,594,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation