Incidental Mutation 'R5413:Fars2'
| ID |
427606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fars2
|
| Ensembl Gene |
ENSMUSG00000021420 |
| Gene Name |
phenylalanine-tRNA synthetase 2, mitochondrial |
| Synonyms |
Fars1, 2810431B21Rik, 6720478K01Rik |
| MMRRC Submission |
042982-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5413 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
36301373-36721569 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 36388545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 11
(Y11*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021857]
[ENSMUST00000099582]
[ENSMUST00000223796]
[ENSMUST00000224241]
[ENSMUST00000224611]
[ENSMUST00000224916]
|
| AlphaFold |
Q99M01 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021857
AA Change: Y11*
|
| SMART Domains |
Protein: ENSMUSP00000021857
Gene: ENSMUSG00000021420
AA Change: Y11*
| 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 null
Transcript: ENSMUST00000223796
AA Change: Y11*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224241
AA Change: Y11*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224611
AA Change: Y11*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224916
AA Change: Y11*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225525
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
A |
11: 48,911,204 (GRCm39) |
T410S |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 89,856,626 (GRCm39) |
S316P |
probably damaging |
Het |
| Angptl3 |
A |
T |
4: 98,919,259 (GRCm39) |
L6F |
probably benign |
Het |
| Clint1 |
T |
C |
11: 45,777,307 (GRCm39) |
V98A |
probably damaging |
Het |
| Clk2 |
A |
G |
3: 89,080,785 (GRCm39) |
N258S |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,905,310 (GRCm39) |
D723G |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,701,831 (GRCm39) |
W1751R |
probably damaging |
Het |
| Daam1 |
C |
A |
12: 71,993,066 (GRCm39) |
L352M |
unknown |
Het |
| Dennd2a |
A |
T |
6: 39,441,227 (GRCm39) |
F964I |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,002,104 (GRCm39) |
L1622P |
probably damaging |
Het |
| Dpy19l4 |
A |
G |
4: 11,289,700 (GRCm39) |
L195P |
probably damaging |
Het |
| Esp24 |
A |
C |
17: 39,350,893 (GRCm39) |
E31A |
possibly damaging |
Het |
| Fbxl16 |
C |
A |
17: 26,035,817 (GRCm39) |
T138K |
possibly damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,249,196 (GRCm39) |
I129V |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,108,620 (GRCm39) |
N241S |
probably benign |
Het |
| Homer1 |
A |
G |
13: 93,528,287 (GRCm39) |
E274G |
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,084,797 (GRCm39) |
V189A |
possibly damaging |
Het |
| Igkv12-98 |
A |
G |
6: 68,548,078 (GRCm39) |
Y68C |
possibly damaging |
Het |
| Igkv3-3 |
G |
C |
6: 70,664,414 (GRCm39) |
R85S |
probably damaging |
Het |
| Ldha |
A |
G |
7: 46,500,320 (GRCm39) |
T144A |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,423,936 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
| Or14c44 |
A |
G |
7: 86,061,675 (GRCm39) |
Y35C |
probably benign |
Het |
| Or2n1d |
G |
T |
17: 38,646,515 (GRCm39) |
A156S |
probably benign |
Het |
| Or2y1b |
A |
T |
11: 49,209,240 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or6b13 |
A |
T |
7: 139,782,635 (GRCm39) |
V16E |
possibly damaging |
Het |
| Osbp |
T |
C |
19: 11,961,855 (GRCm39) |
Y551H |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,096,040 (GRCm39) |
M249T |
possibly damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,538,620 (GRCm39) |
|
probably null |
Het |
| Piwil1 |
G |
A |
5: 128,820,944 (GRCm39) |
V290I |
possibly damaging |
Het |
| Prmt9 |
A |
T |
8: 78,298,638 (GRCm39) |
D444V |
possibly damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,995,173 (GRCm39) |
D677G |
probably damaging |
Het |
| Tmem59 |
A |
G |
4: 107,057,659 (GRCm39) |
E237G |
probably benign |
Het |
| Trpm5 |
A |
T |
7: 142,634,705 (GRCm39) |
I664N |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,257,936 (GRCm39) |
|
probably null |
Het |
| Usp17lc |
C |
A |
7: 103,067,763 (GRCm39) |
Q353K |
probably benign |
Het |
| Uvssa |
G |
A |
5: 33,568,252 (GRCm39) |
V547M |
probably damaging |
Het |
| Vdac1 |
G |
T |
11: 52,265,794 (GRCm39) |
L52F |
probably null |
Het |
| Vmn2r14 |
T |
A |
5: 109,369,154 (GRCm39) |
I140L |
probably benign |
Het |
| Wnt3a |
A |
G |
11: 59,166,182 (GRCm39) |
S33P |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,281,710 (GRCm39) |
Y300N |
probably damaging |
Het |
| Zwilch |
T |
A |
9: 64,075,892 (GRCm39) |
|
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 |
|
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 |
|
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'- AGCAGAGCCCTGTTGCTTTG -3'
(R):5'- TTCCTGCCCACCTTGGAAAG -3'
Sequencing Primer
(F):5'- CACCTTTAGTACCATACATGACAGTG -3'
(R):5'- CTTGGAAAGGACCTTCTGGG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation