Incidental Mutation 'IGL02523:Fars2'
ID |
296959 |
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 # |
IGL02523
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
36301373-36721569 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 36388676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 55
(G55V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153019
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021857]
[ENSMUST00000099582]
[ENSMUST00000223796]
[ENSMUST00000224241]
[ENSMUST00000224611]
[ENSMUST00000224916]
|
AlphaFold |
Q99M01 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021857
AA Change: G55V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021857 Gene: ENSMUSG00000021420 AA Change: G55V
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
|
SMART Domains |
Protein: ENSMUSP00000097177 Gene: ENSMUSG00000021420
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 |
probably damaging
Transcript: ENSMUST00000223796
AA Change: G55V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224241
AA Change: G55V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224611
AA Change: G55V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224916
AA Change: G55V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225525
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asah1 |
T |
C |
8: 41,804,984 (GRCm39) |
D109G |
probably benign |
Het |
Ces2c |
C |
A |
8: 105,574,746 (GRCm39) |
P68T |
probably damaging |
Het |
Csl |
G |
A |
10: 99,594,675 (GRCm39) |
T130I |
probably benign |
Het |
Cyp2g1 |
C |
T |
7: 26,518,612 (GRCm39) |
R376W |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,604,996 (GRCm39) |
L1029P |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,692,490 (GRCm39) |
|
probably benign |
Het |
Eya2 |
C |
T |
2: 165,596,356 (GRCm39) |
|
probably benign |
Het |
Fcgbp |
C |
A |
7: 27,804,157 (GRCm39) |
A1755E |
possibly damaging |
Het |
Ggt7 |
T |
A |
2: 155,356,623 (GRCm39) |
E32V |
probably damaging |
Het |
Heg1 |
C |
A |
16: 33,558,992 (GRCm39) |
T1071K |
probably damaging |
Het |
Hpca |
A |
G |
4: 129,012,368 (GRCm39) |
F56S |
probably damaging |
Het |
Hyal4 |
T |
A |
6: 24,765,968 (GRCm39) |
Y441N |
probably damaging |
Het |
Igsf8 |
T |
A |
1: 172,146,980 (GRCm39) |
|
probably benign |
Het |
Ints13 |
A |
G |
6: 146,459,109 (GRCm39) |
S301P |
probably benign |
Het |
Krt33a |
G |
A |
11: 99,902,518 (GRCm39) |
T374I |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,605,157 (GRCm39) |
D972G |
probably damaging |
Het |
Npc1 |
T |
C |
18: 12,334,629 (GRCm39) |
T708A |
probably benign |
Het |
Or10ag52 |
A |
T |
2: 87,043,664 (GRCm39) |
N143Y |
probably benign |
Het |
Or13p10 |
A |
T |
4: 118,523,238 (GRCm39) |
N175Y |
probably benign |
Het |
Or1l8 |
T |
C |
2: 36,817,967 (GRCm39) |
D53G |
probably damaging |
Het |
Or6d14 |
A |
T |
6: 116,534,054 (GRCm39) |
I223L |
probably benign |
Het |
P2rx2 |
A |
G |
5: 110,489,908 (GRCm39) |
S87P |
probably damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,699,799 (GRCm39) |
L62H |
probably damaging |
Het |
Plekhj1 |
A |
T |
10: 80,633,683 (GRCm39) |
|
probably null |
Het |
Ptbp2 |
A |
T |
3: 119,534,136 (GRCm39) |
Y244* |
probably null |
Het |
Ralbp1 |
T |
C |
17: 66,166,086 (GRCm39) |
E366G |
probably damaging |
Het |
Rergl |
T |
A |
6: 139,473,458 (GRCm39) |
|
probably benign |
Het |
Slc25a45 |
T |
A |
19: 5,934,637 (GRCm39) |
|
probably null |
Het |
Spop |
G |
A |
11: 95,376,747 (GRCm39) |
D267N |
possibly damaging |
Het |
Tars2 |
T |
C |
3: 95,648,705 (GRCm39) |
D625G |
probably damaging |
Het |
Tlk2 |
A |
G |
11: 105,166,773 (GRCm39) |
K593R |
probably damaging |
Het |
Tlr3 |
T |
A |
8: 45,851,428 (GRCm39) |
|
probably null |
Het |
Tmem205 |
C |
T |
9: 21,832,584 (GRCm39) |
R109H |
probably benign |
Het |
Tmem41b |
A |
G |
7: 109,581,935 (GRCm39) |
I56T |
probably damaging |
Het |
Ube2q2 |
T |
C |
9: 55,099,163 (GRCm39) |
V168A |
probably damaging |
Het |
Ufsp2 |
T |
A |
8: 46,436,585 (GRCm39) |
M112K |
probably damaging |
Het |
Wipi2 |
T |
A |
5: 142,646,787 (GRCm39) |
V208E |
probably damaging |
Het |
Xkr9 |
A |
G |
1: 13,754,474 (GRCm39) |
E156G |
probably benign |
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 |
IGL02348:Fars2
|
APN |
13 |
36,721,354 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02406:Fars2
|
APN |
13 |
36,594,145 (GRCm39) |
missense |
probably benign |
0.39 |
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 |