Incidental Mutation 'IGL03299:Fars2'
| ID |
416182 |
| 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 # |
IGL03299
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
36301373-36721569 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 36721384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 443
(Q443*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021857]
[ENSMUST00000099582]
[ENSMUST00000224241]
[ENSMUST00000224611]
[ENSMUST00000224916]
|
| AlphaFold |
Q99M01 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021857
AA Change: Q443*
|
| SMART Domains |
Protein: ENSMUSP00000021857
Gene: ENSMUSG00000021420
AA Change: Q443*
| 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 null
Transcript: ENSMUST00000099582
AA Change: Q211*
|
| SMART Domains |
Protein: ENSMUSP00000097177
Gene: ENSMUSG00000021420
AA Change: Q211*
| 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 null
Transcript: ENSMUST00000224241
AA Change: Q443*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224357
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224611
AA Change: Q443*
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
A |
G |
X: 126,303,476 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
A |
T |
17: 24,484,565 (GRCm39) |
C1566S |
probably damaging |
Het |
| Akr1cl |
A |
T |
1: 65,063,874 (GRCm39) |
L105H |
probably damaging |
Het |
| Ano1 |
A |
G |
7: 144,207,993 (GRCm39) |
F256S |
probably damaging |
Het |
| Arfip2 |
C |
T |
7: 105,287,150 (GRCm39) |
R138H |
probably damaging |
Het |
| Cers6 |
T |
A |
2: 68,692,128 (GRCm39) |
M50K |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 31,037,079 (GRCm39) |
Q256* |
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,585,644 (GRCm39) |
E852K |
possibly damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,770,748 (GRCm39) |
N106S |
probably damaging |
Het |
| Haus7 |
T |
C |
X: 72,496,670 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
C |
T |
12: 51,847,671 (GRCm39) |
|
probably benign |
Het |
| Hyal5 |
G |
T |
6: 24,877,881 (GRCm39) |
G326C |
probably damaging |
Het |
| Ibtk |
A |
T |
9: 85,603,189 (GRCm39) |
D605E |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,649,125 (GRCm39) |
L415P |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
| Muc5b |
A |
G |
7: 141,395,117 (GRCm39) |
D41G |
unknown |
Het |
| Mxra7 |
A |
G |
11: 116,695,360 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,249,207 (GRCm39) |
T1366A |
probably damaging |
Het |
| Nmd3 |
C |
T |
3: 69,637,762 (GRCm39) |
|
probably null |
Het |
| Or6c206 |
T |
C |
10: 129,097,196 (GRCm39) |
V122A |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,727,118 (GRCm39) |
N546S |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,371,247 (GRCm39) |
T139A |
possibly damaging |
Het |
| Rarb |
T |
C |
14: 16,434,168 (GRCm38) |
K337E |
probably damaging |
Het |
| Rps6ka4 |
C |
T |
19: 6,809,615 (GRCm39) |
|
probably benign |
Het |
| Scamp2 |
A |
G |
9: 57,485,023 (GRCm39) |
|
probably null |
Het |
| Scn3a |
T |
A |
2: 65,327,860 (GRCm39) |
M877L |
probably benign |
Het |
| Sh3pxd2b |
T |
C |
11: 32,361,448 (GRCm39) |
|
probably benign |
Het |
| Slc22a29 |
C |
T |
19: 8,140,012 (GRCm39) |
|
probably null |
Het |
| Slc34a1 |
T |
C |
13: 24,005,094 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
A |
T |
17: 86,428,087 (GRCm39) |
I382N |
possibly damaging |
Het |
| Tm7sf2 |
T |
C |
19: 6,112,958 (GRCm39) |
I387M |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,125,731 (GRCm39) |
E311* |
probably null |
Het |
| Zc3h13 |
G |
A |
14: 75,531,381 (GRCm39) |
R93H |
probably damaging |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation