Incidental Mutation 'R8063:Fars2'
| ID |
619867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fars2
|
| Ensembl Gene |
ENSMUSG00000021420 |
| Gene Name |
phenylalanine-tRNA synthetase 2, mitochondrial |
| Synonyms |
Fars1, 2810431B21Rik, 6720478K01Rik |
| MMRRC Submission |
067499-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8063 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
36301373-36721569 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 36388880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 123
(W123*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021857
(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: W123*
|
| SMART Domains |
Protein: ENSMUSP00000021857
Gene: ENSMUSG00000021420
AA Change: W123*
| 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: W123*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224241
AA Change: W123*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224611
AA Change: W123*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224916
AA Change: W123*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (53/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
A |
11: 105,862,190 (GRCm39) |
I248N |
possibly damaging |
Het |
| Agk |
T |
A |
6: 40,306,490 (GRCm39) |
C20S |
possibly damaging |
Het |
| Alpk2 |
G |
A |
18: 65,483,417 (GRCm39) |
S197L |
probably benign |
Het |
| Armc10 |
T |
C |
5: 21,853,768 (GRCm39) |
|
probably null |
Het |
| Asxl2 |
A |
G |
12: 3,550,768 (GRCm39) |
T837A |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,603,545 (GRCm39) |
E50G |
probably damaging |
Het |
| Bend5 |
G |
T |
4: 111,317,031 (GRCm39) |
C398F |
probably damaging |
Het |
| Bicra |
A |
G |
7: 15,712,969 (GRCm39) |
V1026A |
probably benign |
Het |
| Canx |
A |
T |
11: 50,199,173 (GRCm39) |
Y165* |
probably null |
Het |
| Casp14 |
A |
G |
10: 78,549,865 (GRCm39) |
F210L |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,178,175 (GRCm39) |
D458E |
probably benign |
Het |
| Cisd3 |
T |
C |
11: 97,576,710 (GRCm39) |
V12A |
probably benign |
Het |
| Cnot4 |
A |
T |
6: 35,045,578 (GRCm39) |
M211K |
probably damaging |
Het |
| Cyp4f18 |
A |
G |
8: 72,752,075 (GRCm39) |
L197P |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,230,729 (GRCm39) |
I209N |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Edem2 |
A |
T |
2: 155,544,376 (GRCm39) |
M458K |
probably benign |
Het |
| Eif2ak4 |
G |
A |
2: 118,241,382 (GRCm39) |
E178K |
possibly damaging |
Het |
| Ighv1-20 |
T |
C |
12: 114,687,405 (GRCm39) |
Y113C |
probably damaging |
Het |
| Il18r1 |
T |
A |
1: 40,526,198 (GRCm39) |
I248N |
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,081,819 (GRCm39) |
|
probably benign |
Het |
| Kcnh2 |
T |
C |
5: 24,526,670 (GRCm39) |
E1042G |
probably benign |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Lasp1 |
T |
C |
11: 97,724,957 (GRCm39) |
Y188H |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,433,087 (GRCm39) |
T3361A |
unknown |
Het |
| Lrrc52 |
A |
G |
1: 167,294,090 (GRCm39) |
I65T |
probably damaging |
Het |
| Megf9 |
A |
G |
4: 70,406,495 (GRCm39) |
C224R |
probably damaging |
Het |
| Ms4a10 |
T |
C |
19: 10,942,136 (GRCm39) |
T162A |
probably benign |
Het |
| Mstn |
T |
A |
1: 53,105,607 (GRCm39) |
F316L |
probably benign |
Het |
| Ndufs8 |
T |
C |
19: 3,961,019 (GRCm39) |
Y86C |
probably damaging |
Het |
| Or10d4b |
A |
T |
9: 39,534,823 (GRCm39) |
I133F |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,764,126 (GRCm39) |
D462N |
possibly damaging |
Het |
| Rad51d |
A |
G |
11: 82,780,597 (GRCm39) |
S62P |
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,285,775 (GRCm39) |
Y388H |
probably damaging |
Het |
| Rdm1 |
C |
A |
11: 101,521,694 (GRCm39) |
Q150K |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Sctr |
T |
C |
1: 119,991,005 (GRCm39) |
V446A |
probably benign |
Het |
| Sin3b |
G |
A |
8: 73,452,169 (GRCm39) |
D71N |
probably damaging |
Het |
| Sirt5 |
A |
T |
13: 43,524,323 (GRCm39) |
T32S |
probably benign |
Het |
| Slc17a1 |
T |
C |
13: 24,059,524 (GRCm39) |
V85A |
probably benign |
Het |
| Snx1 |
C |
T |
9: 66,004,676 (GRCm39) |
|
probably benign |
Het |
| Sorcs1 |
T |
A |
19: 50,132,415 (GRCm39) |
D1181V |
unknown |
Het |
| Tcof1 |
A |
G |
18: 60,971,834 (GRCm39) |
S158P |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,379,723 (GRCm39) |
D815G |
probably damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,516,098 (GRCm39) |
I290N |
probably damaging |
Het |
| Uba6 |
A |
T |
5: 86,300,544 (GRCm39) |
N225K |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,238,524 (GRCm39) |
T11A |
probably benign |
Het |
| Vmn1r5 |
T |
G |
6: 56,962,583 (GRCm39) |
M86R |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,001,914 (GRCm39) |
H66Q |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,841,327 (GRCm39) |
E2647G |
|
Het |
| Wdr5b |
T |
A |
16: 35,862,158 (GRCm39) |
D92E |
possibly damaging |
Het |
| Zfp960 |
C |
A |
17: 17,308,623 (GRCm39) |
R446S |
probably benign |
Het |
| Zscan20 |
C |
T |
4: 128,480,028 (GRCm39) |
S821N |
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 |
|
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 |
|
|
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'- AGGCAGTGTGCTGGAGATAC -3'
(R):5'- ATCAATCTGGTCACGACGATACAC -3'
Sequencing Primer
(F):5'- GCTGGAGATACTTGGTAAATCCTAC -3'
(R):5'- GATACACGTCACCTACCACAAGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation