Incidental Mutation 'R7676:Fars2'
| ID |
592471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fars2
|
| Ensembl Gene |
ENSMUSG00000021420 |
| Gene Name |
phenylalanine-tRNA synthetase 2, mitochondrial |
| Synonyms |
Fars1, 2810431B21Rik, 6720478K01Rik |
| MMRRC Submission |
045647-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7676 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
36301373-36721569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 36389026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 172
(L172I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021857]
[ENSMUST00000099582]
[ENSMUST00000223796]
[ENSMUST00000224241]
[ENSMUST00000224611]
[ENSMUST00000224916]
|
| AlphaFold |
Q99M01 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021857
AA Change: L172I
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000021857
Gene: ENSMUSG00000021420
AA Change: L172I
| 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 benign
Transcript: ENSMUST00000223796
AA Change: L172I
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224241
AA Change: L172I
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224611
AA Change: L172I
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224916
AA Change: L172I
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,185,813 (GRCm39) |
D116G |
possibly damaging |
Het |
| Adam6a |
G |
A |
12: 113,508,196 (GRCm39) |
G190S |
probably benign |
Het |
| Adnp |
G |
A |
2: 168,025,367 (GRCm39) |
R643* |
probably null |
Het |
| Akap6 |
A |
G |
12: 52,933,633 (GRCm39) |
D375G |
possibly damaging |
Het |
| Aldh1l2 |
G |
T |
10: 83,343,975 (GRCm39) |
A480E |
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,148,821 (GRCm39) |
Q779L |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,273,324 (GRCm39) |
L2484* |
probably null |
Het |
| Dnajc21 |
T |
C |
15: 10,462,430 (GRCm39) |
Y65C |
possibly damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,333,294 (GRCm39) |
N255K |
probably benign |
Het |
| Efhc1 |
G |
T |
1: 21,037,593 (GRCm39) |
G257W |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,945,846 (GRCm39) |
Y1580H |
probably damaging |
Het |
| Fli1 |
T |
A |
9: 32,339,326 (GRCm39) |
N253Y |
probably benign |
Het |
| Foxd3 |
G |
T |
4: 99,545,151 (GRCm39) |
C97F |
probably damaging |
Het |
| Gem |
C |
A |
4: 11,711,170 (GRCm39) |
D120E |
possibly damaging |
Het |
| Ighv10-3 |
A |
G |
12: 114,487,299 (GRCm39) |
C41R |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,449,549 (GRCm39) |
D897G |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,217,553 (GRCm39) |
S16G |
probably benign |
Het |
| Keg1 |
T |
G |
19: 12,693,409 (GRCm39) |
V154G |
probably benign |
Het |
| Lrrc45 |
G |
A |
11: 120,611,148 (GRCm39) |
R602H |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,598,292 (GRCm39) |
D591G |
possibly damaging |
Het |
| Mmp10 |
T |
A |
9: 7,503,550 (GRCm39) |
V140D |
probably damaging |
Het |
| Nat8f2 |
A |
T |
6: 85,845,194 (GRCm39) |
M56K |
probably benign |
Het |
| Nckipsd |
T |
C |
9: 108,692,153 (GRCm39) |
F525L |
probably damaging |
Het |
| Or10ak7 |
A |
G |
4: 118,791,347 (GRCm39) |
S233P |
probably damaging |
Het |
| Or10j7 |
T |
A |
1: 173,011,120 (GRCm39) |
K294* |
probably null |
Het |
| Or6c6c |
G |
T |
10: 129,541,155 (GRCm39) |
S136I |
possibly damaging |
Het |
| P2ry12 |
T |
A |
3: 59,125,178 (GRCm39) |
M166L |
possibly damaging |
Het |
| Palm3 |
T |
C |
8: 84,756,074 (GRCm39) |
S529P |
possibly damaging |
Het |
| Pdilt |
A |
T |
7: 119,094,220 (GRCm39) |
Y344N |
probably damaging |
Het |
| Pip4k2b |
A |
T |
11: 97,611,188 (GRCm39) |
N309K |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,912,708 (GRCm39) |
V166I |
|
Het |
| Plxdc2 |
C |
T |
2: 16,716,894 (GRCm39) |
S377L |
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,295,344 (GRCm39) |
V224E |
possibly damaging |
Het |
| Stk32c |
T |
A |
7: 138,685,220 (GRCm39) |
D428V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,644,951 (GRCm39) |
D12968G |
probably damaging |
Het |
| Tulp2 |
G |
T |
7: 45,170,451 (GRCm39) |
V457F |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,839,908 (GRCm39) |
S1879T |
probably damaging |
Het |
| Vmn1r51 |
T |
C |
6: 90,106,437 (GRCm39) |
Y118H |
probably benign |
Het |
| Zfat |
A |
C |
15: 68,096,693 (GRCm39) |
V40G |
possibly 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATATGGTGCGATCCAGGACAC -3'
(R):5'- AGGACAATGCCCCTTGTTTC -3'
Sequencing Primer
(F):5'- GTGCGATCCAGGACACCTCTATTC -3'
(R):5'- GGACAATGCCCCTTGTTTCAAAAAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation