Incidental Mutation 'IGL02348:Fars2'
ID |
289359 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fars2
|
Ensembl Gene |
ENSMUSG00000021420 |
Gene Name |
phenylalanine-tRNA synthetase 2, mitochondrial |
Synonyms |
Fars1, 2810431B21Rik, 6720478K01Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02348
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
36301373-36721569 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 36721354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 433
(V433I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153658
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021857]
[ENSMUST00000099582]
[ENSMUST00000224241]
[ENSMUST00000224611]
[ENSMUST00000224916]
|
AlphaFold |
Q99M01 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021857
AA Change: V433I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000021857 Gene: ENSMUSG00000021420 AA Change: V433I
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_2d
|
69 |
208 |
3.3e-18 |
PFAM |
Pfam:tRNA-synt_2d
|
223 |
343 |
9.5e-31 |
PFAM |
FDX-ACB
|
358 |
450 |
1.5e-32 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099582
AA Change: V201I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000097177 Gene: ENSMUSG00000021420 AA Change: V201I
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_2d
|
4 |
111 |
2.6e-33 |
PFAM |
FDX-ACB
|
126 |
218 |
1.5e-32 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223905
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224241
AA Change: V433I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224357
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224611
AA Change: V433I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224916
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225948
|
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 protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap12 |
G |
A |
10: 4,304,722 (GRCm39) |
D511N |
probably damaging |
Het |
Akt3 |
T |
A |
1: 176,886,952 (GRCm39) |
D299V |
probably damaging |
Het |
Arfgef3 |
G |
A |
10: 18,467,095 (GRCm39) |
P2035L |
probably benign |
Het |
Atp13a3 |
C |
T |
16: 30,170,046 (GRCm39) |
|
probably null |
Het |
Capn9 |
C |
A |
8: 125,321,416 (GRCm39) |
P151T |
probably damaging |
Het |
Csrnp1 |
T |
A |
9: 119,801,709 (GRCm39) |
D450V |
probably damaging |
Het |
Ctrb1 |
C |
T |
8: 112,413,762 (GRCm39) |
A201T |
possibly damaging |
Het |
Erp27 |
T |
C |
6: 136,888,544 (GRCm39) |
T145A |
probably damaging |
Het |
Fads2b |
T |
C |
2: 85,323,640 (GRCm39) |
I298V |
possibly damaging |
Het |
Fanca |
A |
T |
8: 124,032,002 (GRCm39) |
L256Q |
probably damaging |
Het |
Fbxo9 |
T |
A |
9: 78,016,289 (GRCm39) |
M1L |
probably benign |
Het |
Fcnb |
C |
A |
2: 27,974,842 (GRCm39) |
V10F |
possibly damaging |
Het |
Gad2 |
C |
T |
2: 22,519,405 (GRCm39) |
H175Y |
probably damaging |
Het |
Get4 |
G |
A |
5: 139,238,254 (GRCm39) |
G12D |
probably benign |
Het |
Gmpr2 |
T |
A |
14: 55,915,758 (GRCm39) |
I312N |
probably damaging |
Het |
Golm1 |
T |
A |
13: 59,786,191 (GRCm39) |
M334L |
probably benign |
Het |
Itgam |
T |
A |
7: 127,715,472 (GRCm39) |
F1054L |
possibly damaging |
Het |
Kcnk7 |
C |
A |
19: 5,756,501 (GRCm39) |
|
probably benign |
Het |
Kif3b |
G |
A |
2: 153,158,813 (GRCm39) |
A205T |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,406,659 (GRCm39) |
V276M |
probably damaging |
Het |
Mdga2 |
T |
A |
12: 66,597,349 (GRCm39) |
N715I |
probably damaging |
Het |
Mfap5 |
T |
A |
6: 122,503,746 (GRCm39) |
S103R |
possibly damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,326 (GRCm39) |
V876M |
probably damaging |
Het |
Ncor1 |
A |
T |
11: 62,224,485 (GRCm39) |
|
probably benign |
Het |
Nfya |
G |
A |
17: 48,700,304 (GRCm39) |
Q122* |
probably null |
Het |
Nup210l |
G |
A |
3: 90,011,471 (GRCm39) |
|
probably benign |
Het |
Or5h22 |
T |
G |
16: 58,895,312 (GRCm39) |
I44L |
probably damaging |
Het |
Pcdhb19 |
T |
A |
18: 37,631,861 (GRCm39) |
L552Q |
probably damaging |
Het |
Psmd2 |
T |
A |
16: 20,473,397 (GRCm39) |
S153T |
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,610,452 (GRCm39) |
Y685C |
probably damaging |
Het |
Rad54l2 |
T |
C |
9: 106,597,575 (GRCm39) |
R144G |
probably damaging |
Het |
S1pr4 |
A |
C |
10: 81,334,855 (GRCm39) |
Y206* |
probably null |
Het |
Slc39a14 |
A |
G |
14: 70,553,885 (GRCm39) |
|
probably null |
Het |
Stx2 |
G |
A |
5: 129,065,894 (GRCm39) |
A254V |
probably damaging |
Het |
Sumf2 |
G |
T |
5: 129,888,711 (GRCm39) |
G216C |
probably damaging |
Het |
Tbc1d32 |
A |
G |
10: 56,100,715 (GRCm39) |
S88P |
probably benign |
Het |
Trem1 |
T |
A |
17: 48,539,824 (GRCm39) |
M1K |
probably null |
Het |
Trmt1l |
T |
C |
1: 151,325,757 (GRCm39) |
Y401H |
probably damaging |
Het |
Ttc22 |
A |
T |
4: 106,480,135 (GRCm39) |
M130L |
probably damaging |
Het |
Wnk1 |
T |
C |
6: 119,940,289 (GRCm39) |
E816G |
probably damaging |
Het |
Wnt9b |
C |
T |
11: 103,622,908 (GRCm39) |
G165D |
probably damaging |
Het |
Zscan21 |
A |
G |
5: 138,131,645 (GRCm39) |
T390A |
probably damaging |
Het |
Zswim7 |
G |
T |
11: 62,159,581 (GRCm39) |
C85* |
probably null |
Het |
|
Other mutations in Fars2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01876:Fars2
|
APN |
13 |
36,721,285 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02406:Fars2
|
APN |
13 |
36,594,145 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02523:Fars2
|
APN |
13 |
36,388,676 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02896:Fars2
|
APN |
13 |
36,388,825 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03299:Fars2
|
APN |
13 |
36,721,384 (GRCm39) |
nonsense |
probably null |
|
IGL03308:Fars2
|
APN |
13 |
36,388,670 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0419:Fars2
|
UTSW |
13 |
36,721,285 (GRCm39) |
missense |
probably benign |
0.07 |
R0546:Fars2
|
UTSW |
13 |
36,388,569 (GRCm39) |
missense |
probably benign |
0.01 |
R1918:Fars2
|
UTSW |
13 |
36,388,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R3120:Fars2
|
UTSW |
13 |
36,430,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R3844:Fars2
|
UTSW |
13 |
36,389,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R4716:Fars2
|
UTSW |
13 |
36,389,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R4795:Fars2
|
UTSW |
13 |
36,721,400 (GRCm39) |
missense |
probably damaging |
0.97 |
R4796:Fars2
|
UTSW |
13 |
36,721,400 (GRCm39) |
missense |
probably damaging |
0.97 |
R4979:Fars2
|
UTSW |
13 |
36,388,564 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5262:Fars2
|
UTSW |
13 |
36,526,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R5413:Fars2
|
UTSW |
13 |
36,388,545 (GRCm39) |
nonsense |
probably null |
|
R5475:Fars2
|
UTSW |
13 |
36,388,553 (GRCm39) |
missense |
probably benign |
|
R5635:Fars2
|
UTSW |
13 |
36,594,129 (GRCm39) |
missense |
probably damaging |
0.99 |
R6437:Fars2
|
UTSW |
13 |
36,388,846 (GRCm39) |
missense |
probably benign |
0.41 |
R7637:Fars2
|
UTSW |
13 |
36,388,758 (GRCm39) |
missense |
probably benign |
0.40 |
R7676:Fars2
|
UTSW |
13 |
36,389,026 (GRCm39) |
missense |
probably benign |
0.07 |
R8013:Fars2
|
UTSW |
13 |
36,389,068 (GRCm39) |
nonsense |
probably null |
|
R8014:Fars2
|
UTSW |
13 |
36,389,068 (GRCm39) |
nonsense |
probably null |
|
R8063:Fars2
|
UTSW |
13 |
36,388,880 (GRCm39) |
nonsense |
probably null |
|
R8273:Fars2
|
UTSW |
13 |
36,594,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R8837:Fars2
|
UTSW |
13 |
36,430,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R8994:Fars2
|
UTSW |
13 |
36,388,849 (GRCm39) |
missense |
probably damaging |
0.98 |
R9067:Fars2
|
UTSW |
13 |
36,388,846 (GRCm39) |
missense |
probably benign |
0.41 |
R9110:Fars2
|
UTSW |
13 |
36,430,402 (GRCm39) |
missense |
probably benign |
0.00 |
R9169:Fars2
|
UTSW |
13 |
36,416,109 (GRCm39) |
missense |
probably damaging |
1.00 |
X0020:Fars2
|
UTSW |
13 |
36,388,778 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Fars2
|
UTSW |
13 |
36,388,714 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |