Incidental Mutation 'R5127:Farsa'
| ID |
394818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Farsa
|
| Ensembl Gene |
ENSMUSG00000003808 |
| Gene Name |
phenylalanyl-tRNA synthetase, alpha subunit |
| Synonyms |
0610012A19Rik, Farsla |
| MMRRC Submission |
042715-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5127 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85583618-85595886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85595593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 495
(D495G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003906]
[ENSMUST00000003922]
[ENSMUST00000109754]
[ENSMUST00000136026]
[ENSMUST00000170296]
[ENSMUST00000156970]
|
| AlphaFold |
Q8C0C7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003906
AA Change: D496G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000003906
Gene: ENSMUSG00000003808
AA Change: D496G
| 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 benign
Transcript: ENSMUST00000109754
AA Change: D495G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000105376
Gene: ENSMUSG00000003808
AA Change: D495G
| 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: ENSMUST00000144466
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184765
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.3002 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
93% (42/45) |
| 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 |
|---|
| 2610008E11Rik |
T |
C |
10: 78,902,826 (GRCm39) |
K497E |
probably damaging |
Het |
| 4933413J09Rik |
A |
G |
14: 26,097,462 (GRCm39) |
|
noncoding transcript |
Het |
| Aox1 |
A |
T |
1: 58,069,185 (GRCm39) |
I4F |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,250,148 (GRCm39) |
N300Y |
probably damaging |
Het |
| B530045E10Rik |
A |
G |
10: 99,257,983 (GRCm39) |
|
noncoding transcript |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 104,875,073 (GRCm39) |
E285G |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,722,249 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,696,067 (GRCm39) |
C2667R |
unknown |
Het |
| Cts8 |
C |
T |
13: 61,401,149 (GRCm39) |
V126M |
probably damaging |
Het |
| Dag1 |
A |
T |
9: 108,084,771 (GRCm39) |
I790N |
possibly damaging |
Het |
| Ddit4 |
A |
G |
10: 59,786,491 (GRCm39) |
I186T |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 152,054,271 (GRCm39) |
|
probably benign |
Het |
| Gm1527 |
T |
A |
3: 28,957,567 (GRCm39) |
I157N |
probably damaging |
Het |
| Gm5773 |
T |
A |
3: 93,680,735 (GRCm39) |
W136R |
probably benign |
Het |
| Hpse |
C |
A |
5: 100,867,403 (GRCm39) |
A20S |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,887,634 (GRCm39) |
Y2477H |
probably damaging |
Het |
| Kcnh5 |
A |
G |
12: 74,944,858 (GRCm39) |
V797A |
probably benign |
Het |
| Kptn |
T |
A |
7: 15,859,710 (GRCm39) |
C311* |
probably null |
Het |
| Lpcat2 |
A |
T |
8: 93,635,819 (GRCm39) |
N407I |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,375,503 (GRCm39) |
|
probably benign |
Het |
| Ovol2 |
C |
T |
2: 144,159,780 (GRCm39) |
C120Y |
probably damaging |
Het |
| Pcdhac2 |
G |
T |
18: 37,277,352 (GRCm39) |
E111* |
probably null |
Het |
| Pknox1 |
C |
T |
17: 31,809,713 (GRCm39) |
P106S |
probably benign |
Het |
| Plet1 |
C |
T |
9: 50,415,595 (GRCm39) |
T155I |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,671,621 (GRCm39) |
K444R |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,525,415 (GRCm39) |
I397N |
unknown |
Het |
| Ranbp1 |
A |
G |
16: 18,065,151 (GRCm39) |
|
probably null |
Het |
| Raver2 |
T |
C |
4: 100,960,182 (GRCm39) |
C221R |
probably damaging |
Het |
| Reps1 |
A |
G |
10: 17,969,628 (GRCm39) |
T244A |
probably benign |
Het |
| Slc22a16 |
G |
A |
10: 40,449,953 (GRCm39) |
V130I |
probably benign |
Het |
| Stmnd1 |
G |
A |
13: 46,453,071 (GRCm39) |
S249N |
probably benign |
Het |
| Styx |
A |
G |
14: 45,610,961 (GRCm39) |
|
probably null |
Het |
| Sult1b1 |
T |
G |
5: 87,669,407 (GRCm39) |
N147T |
probably damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,633,639 (GRCm39) |
|
probably benign |
Het |
| Tm4sf1 |
T |
G |
3: 57,200,289 (GRCm39) |
I109L |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,256,010 (GRCm39) |
E423G |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,840,654 (GRCm39) |
I66V |
probably benign |
Het |
| Wfdc10 |
C |
T |
2: 164,499,060 (GRCm39) |
Q57* |
probably null |
Het |
| Zeb1os1 |
T |
C |
18: 5,567,390 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp369 |
A |
T |
13: 65,426,847 (GRCm39) |
|
probably benign |
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 |
|
IGL02273:Farsa
|
APN |
8 |
85,594,455 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACAGCATGTTCACCGTGGG -3'
(R):5'- TTAAAACAGCTGGCCTGCAG -3'
Sequencing Primer
(F):5'- GGGAACACTTTGGCATTCATTC -3'
(R):5'- AGCATAAGAACTCCCCATACTTAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation