Incidental Mutation 'R0419:Fars2'
| ID |
36944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fars2
|
| Ensembl Gene |
ENSMUSG00000021420 |
| Gene Name |
phenylalanine-tRNA synthetase 2, mitochondrial |
| Synonyms |
Fars1, 2810431B21Rik, 6720478K01Rik |
| MMRRC Submission |
038621-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0419 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
36301373-36721569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36721285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 410
(T410A)
|
| 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: T410A
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000021857
Gene: ENSMUSG00000021420
AA Change: T410A
| 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: T178A
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000097177
Gene: ENSMUSG00000021420
AA Change: T178A
| 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: T410A
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224611
AA Change: T410A
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224916
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225948
|
| Meta Mutation Damage Score |
0.1242 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
C |
8: 13,601,842 (GRCm39) |
|
probably benign |
Het |
| 5730507C01Rik |
A |
T |
12: 18,583,424 (GRCm39) |
R161S |
possibly damaging |
Het |
| Adamts5 |
T |
C |
16: 85,663,530 (GRCm39) |
I735V |
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,408,435 (GRCm39) |
P2024Q |
unknown |
Het |
| Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
| B3galt4 |
T |
C |
17: 34,169,764 (GRCm39) |
Y158C |
probably damaging |
Het |
| BC049715 |
A |
G |
6: 136,817,143 (GRCm39) |
T128A |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,922,629 (GRCm39) |
I11N |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,077,485 (GRCm39) |
I496V |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,441,517 (GRCm39) |
H858Q |
probably benign |
Het |
| Chrne |
T |
C |
11: 70,506,549 (GRCm39) |
I324V |
probably benign |
Het |
| Clec14a |
T |
C |
12: 58,314,451 (GRCm39) |
I390M |
probably damaging |
Het |
| Cpsf3 |
A |
G |
12: 21,347,800 (GRCm39) |
Y207C |
probably damaging |
Het |
| Cubn |
A |
C |
2: 13,474,574 (GRCm39) |
I410S |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,474,575 (GRCm39) |
I410F |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,050,740 (GRCm39) |
E997G |
possibly damaging |
Het |
| Emilin1 |
G |
T |
5: 31,072,366 (GRCm39) |
V71F |
probably damaging |
Het |
| Esrp2 |
T |
C |
8: 106,861,307 (GRCm39) |
E164G |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,903,552 (GRCm39) |
V2981A |
probably damaging |
Het |
| Fkbp15 |
G |
A |
4: 62,244,373 (GRCm39) |
T472I |
probably benign |
Het |
| Gm6871 |
A |
G |
7: 41,222,869 (GRCm39) |
V73A |
probably benign |
Het |
| Gnl2 |
T |
G |
4: 124,947,320 (GRCm39) |
S647R |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,884,207 (GRCm39) |
I500V |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,353,356 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
A |
C |
13: 95,826,207 (GRCm39) |
|
probably null |
Het |
| Kcnu1 |
A |
T |
8: 26,427,646 (GRCm39) |
N321I |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,833,687 (GRCm39) |
R519* |
probably null |
Het |
| Klhl1 |
C |
T |
14: 96,619,225 (GRCm39) |
R224Q |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,098,605 (GRCm39) |
|
probably null |
Het |
| Lamp3 |
T |
C |
16: 19,492,302 (GRCm39) |
Y314C |
probably damaging |
Het |
| Lamtor5 |
C |
A |
3: 107,189,227 (GRCm39) |
R88S |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,726,715 (GRCm39) |
A2088E |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,897,463 (GRCm39) |
|
probably benign |
Het |
| Ntn4 |
A |
T |
10: 93,518,291 (GRCm39) |
R199S |
probably benign |
Het |
| Or5ap2 |
A |
T |
2: 85,680,311 (GRCm39) |
R172* |
probably null |
Het |
| Plekho2 |
A |
G |
9: 65,464,334 (GRCm39) |
S172P |
possibly damaging |
Het |
| Pmp2 |
T |
C |
3: 10,245,823 (GRCm39) |
Y129C |
probably damaging |
Het |
| Prss3b |
T |
C |
6: 41,011,281 (GRCm39) |
N34D |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,270,592 (GRCm39) |
M578K |
possibly damaging |
Het |
| Ranbp3 |
C |
T |
17: 57,015,219 (GRCm39) |
T307M |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,304,590 (GRCm39) |
W185* |
probably null |
Het |
| Setdb2 |
A |
T |
14: 59,644,193 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
A |
T |
3: 15,613,656 (GRCm39) |
V75E |
probably damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,100,292 (GRCm39) |
L397Q |
probably damaging |
Het |
| Slc19a1 |
T |
A |
10: 76,878,742 (GRCm39) |
I355N |
probably damaging |
Het |
| Slc51a |
T |
A |
16: 32,295,254 (GRCm39) |
I275F |
possibly damaging |
Het |
| Spink14 |
T |
C |
18: 44,164,934 (GRCm39) |
S84P |
probably damaging |
Het |
| Stx2 |
A |
G |
5: 129,070,641 (GRCm39) |
|
probably benign |
Het |
| Tgfbi |
G |
T |
13: 56,780,006 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
A |
12: 91,504,643 (GRCm39) |
M527K |
probably damaging |
Het |
| Upb1 |
T |
C |
10: 75,248,717 (GRCm39) |
V79A |
probably damaging |
Het |
| Zdhhc5 |
A |
T |
2: 84,521,587 (GRCm39) |
|
probably null |
Het |
| Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,219,519 (GRCm39) |
V32A |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACCAGCTTCTCCAGTATTCAAGCTAC -3'
(R):5'- CCAGTTCACAAACAATGTGTTTCCCC -3'
Sequencing Primer
(F):5'- GCCATACATGACTGATGCTTG -3'
(R):5'- AAACAATGTGTTTCCCCCTTCC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation