Incidental Mutation 'R7166:Farsb'
| ID |
557911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Farsb
|
| Ensembl Gene |
ENSMUSG00000026245 |
| Gene Name |
phenylalanyl-tRNA synthetase, beta subunit |
| Synonyms |
Farslb, Farsl, Frsb, PheRS alpha |
| MMRRC Submission |
045227-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R7166 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
78394612-78465534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78447821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 205
(N205S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068333]
[ENSMUST00000170217]
[ENSMUST00000188247]
[ENSMUST00000189529]
[ENSMUST00000190441]
|
| AlphaFold |
Q9WUA2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068333
AA Change: N205S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000069508
Gene: ENSMUSG00000026245
AA Change: N205S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:B3_4
|
56 |
95 |
6e-14 |
BLAST |
|
B3_4
|
117 |
279 |
3.29e-29 |
SMART |
|
B5
|
304 |
374 |
6.31e-17 |
SMART |
|
SCOP:d1jjcb5
|
377 |
586 |
1e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170217
AA Change: N205S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129828
Gene: ENSMUSG00000026245
AA Change: N205S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:B3_4
|
56 |
95 |
6e-14 |
BLAST |
|
B3_4
|
117 |
279 |
3.29e-29 |
SMART |
|
B5
|
304 |
374 |
6.31e-17 |
SMART |
|
SCOP:d1jjcb5
|
377 |
586 |
1e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188247
AA Change: N106S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139933
Gene: ENSMUSG00000026245
AA Change: N106S
| Domain | Start | End | E-Value | Type |
|---|
|
B3_4
|
18 |
180 |
2.5e-33 |
SMART |
|
SCOP:d1jjcb2
|
204 |
237 |
3e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189529
|
| SMART Domains |
Protein: ENSMUSP00000140001
Gene: ENSMUSG00000026245
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3L4G|P
|
1 |
38 |
3e-20 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190441
|
| SMART Domains |
Protein: ENSMUSP00000140934
Gene: ENSMUSG00000026245
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:B3_4
|
89 |
128 |
3e-15 |
BLAST |
|
Pfam:B3_4
|
150 |
206 |
1e-5 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
All alleles(15) : Targeted(2) Gene trapped(13)
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
T |
C |
5: 88,615,387 (GRCm39) |
L272P |
possibly damaging |
Het |
| Ash2l |
C |
A |
8: 26,317,348 (GRCm39) |
G335V |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,251,966 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
G |
A |
4: 140,734,295 (GRCm39) |
R1139Q |
possibly damaging |
Het |
| Atxn2 |
T |
A |
5: 121,934,460 (GRCm39) |
N886K |
possibly damaging |
Het |
| Celsr3 |
G |
T |
9: 108,720,150 (GRCm39) |
C2512F |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,875,843 (GRCm39) |
V449A |
probably benign |
Het |
| Cfhr2 |
A |
T |
1: 139,758,839 (GRCm39) |
C70* |
probably null |
Het |
| Chfr |
C |
A |
5: 110,306,671 (GRCm39) |
P472Q |
probably benign |
Het |
| Crybg2 |
G |
A |
4: 133,788,193 (GRCm39) |
R22Q |
probably damaging |
Het |
| Eef2k |
T |
C |
7: 120,483,995 (GRCm39) |
F244L |
probably damaging |
Het |
| Efcab11 |
A |
T |
12: 99,849,614 (GRCm39) |
M23K |
|
Het |
| Eif4a3l2 |
A |
G |
6: 116,528,329 (GRCm39) |
I69V |
probably benign |
Het |
| Ercc8 |
T |
A |
13: 108,305,967 (GRCm39) |
M114K |
possibly damaging |
Het |
| Fam217a |
T |
C |
13: 35,094,298 (GRCm39) |
Y487C |
probably benign |
Het |
| Glra1 |
A |
G |
11: 55,405,904 (GRCm39) |
F370S |
probably benign |
Het |
| Gm12258 |
T |
A |
11: 58,749,299 (GRCm39) |
M158K |
|
Het |
| Gm14305 |
T |
A |
2: 176,412,736 (GRCm39) |
H209Q |
probably damaging |
Het |
| Gm4924 |
A |
T |
10: 82,214,035 (GRCm39) |
Q611L |
unknown |
Het |
| H4c11 |
A |
G |
13: 21,919,321 (GRCm39) |
H19R |
unknown |
Het |
| Haus6 |
T |
C |
4: 86,501,924 (GRCm39) |
E649G |
possibly damaging |
Het |
| Hlcs |
C |
T |
16: 94,063,585 (GRCm39) |
D345N |
possibly damaging |
Het |
| Htt |
C |
A |
5: 35,010,238 (GRCm39) |
Q1564K |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,355,151 (GRCm39) |
V481I |
probably benign |
Het |
| Jak3 |
T |
C |
8: 72,134,960 (GRCm39) |
I531T |
probably damaging |
Het |
| Kng1 |
T |
A |
16: 22,898,428 (GRCm39) |
H609Q |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,746,446 (GRCm39) |
S4131T |
probably damaging |
Het |
| Npnt |
A |
G |
3: 132,653,889 (GRCm39) |
S31P |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,121 (GRCm39) |
F104L |
possibly damaging |
Het |
| Or4c100 |
A |
T |
2: 88,355,990 (GRCm39) |
Q21L |
possibly damaging |
Het |
| Or8h8 |
T |
A |
2: 86,753,092 (GRCm39) |
K261N |
probably damaging |
Het |
| Paxx |
A |
T |
2: 25,350,238 (GRCm39) |
L123Q |
probably damaging |
Het |
| Prdm13 |
C |
T |
4: 21,683,528 (GRCm39) |
R144Q |
unknown |
Het |
| Rab2b |
C |
A |
14: 52,516,802 (GRCm39) |
|
probably benign |
Het |
| Rnf207 |
A |
G |
4: 152,396,237 (GRCm39) |
I509T |
probably damaging |
Het |
| Ropn1l |
T |
C |
15: 31,453,655 (GRCm39) |
Q12R |
|
Het |
| Ryr3 |
T |
G |
2: 112,705,373 (GRCm39) |
Y847S |
probably damaging |
Het |
| Slc1a6 |
A |
T |
10: 78,648,646 (GRCm39) |
T456S |
possibly damaging |
Het |
| Slc26a2 |
A |
T |
18: 61,331,901 (GRCm39) |
M510K |
possibly damaging |
Het |
| Slc5a9 |
T |
C |
4: 111,741,036 (GRCm39) |
T537A |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,031,939 (GRCm39) |
Y132H |
unknown |
Het |
| Sltm |
T |
C |
9: 70,492,132 (GRCm39) |
L725S |
probably damaging |
Het |
| Spz1 |
A |
G |
13: 92,712,435 (GRCm39) |
C14R |
probably benign |
Het |
| Srrm4 |
T |
A |
5: 116,609,301 (GRCm39) |
Q172L |
unknown |
Het |
| Synj2bp |
T |
C |
12: 81,551,289 (GRCm39) |
D92G |
probably benign |
Het |
| Tmem169 |
A |
C |
1: 72,340,229 (GRCm39) |
T220P |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,718,372 (GRCm39) |
I7270F |
unknown |
Het |
| Txndc16 |
T |
G |
14: 45,420,611 (GRCm39) |
N137H |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,976,389 (GRCm39) |
Y2499H |
|
Het |
| Ugt2b38 |
T |
C |
5: 87,558,305 (GRCm39) |
D452G |
probably damaging |
Het |
| Zfp12 |
T |
A |
5: 143,231,257 (GRCm39) |
I560N |
possibly damaging |
Het |
| Zfp60 |
A |
G |
7: 27,448,937 (GRCm39) |
K535R |
possibly damaging |
Het |
| Zfp960 |
T |
A |
17: 17,308,761 (GRCm39) |
C492S |
probably damaging |
Het |
|
| Other mutations in Farsb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Farsb
|
APN |
1 |
78,439,630 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01328:Farsb
|
APN |
1 |
78,447,729 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01801:Farsb
|
APN |
1 |
78,435,216 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0054:Farsb
|
UTSW |
1 |
78,439,011 (GRCm39) |
nonsense |
probably null |
|
|
R0054:Farsb
|
UTSW |
1 |
78,439,011 (GRCm39) |
nonsense |
probably null |
|
|
R1051:Farsb
|
UTSW |
1 |
78,420,287 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1769:Farsb
|
UTSW |
1 |
78,443,620 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4332:Farsb
|
UTSW |
1 |
78,445,903 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4664:Farsb
|
UTSW |
1 |
78,420,402 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4796:Farsb
|
UTSW |
1 |
78,401,833 (GRCm39) |
makesense |
probably null |
|
|
R4859:Farsb
|
UTSW |
1 |
78,444,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5484:Farsb
|
UTSW |
1 |
78,452,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5500:Farsb
|
UTSW |
1 |
78,447,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5557:Farsb
|
UTSW |
1 |
78,445,888 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6109:Farsb
|
UTSW |
1 |
78,439,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6368:Farsb
|
UTSW |
1 |
78,443,602 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6720:Farsb
|
UTSW |
1 |
78,449,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7184:Farsb
|
UTSW |
1 |
78,458,994 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7233:Farsb
|
UTSW |
1 |
78,447,718 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7536:Farsb
|
UTSW |
1 |
78,420,391 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7753:Farsb
|
UTSW |
1 |
78,456,740 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7824:Farsb
|
UTSW |
1 |
78,445,936 (GRCm39) |
missense |
probably benign |
|
|
R7916:Farsb
|
UTSW |
1 |
78,435,200 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8120:Farsb
|
UTSW |
1 |
78,439,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8517:Farsb
|
UTSW |
1 |
78,439,933 (GRCm39) |
nonsense |
probably null |
|
|
R8794:Farsb
|
UTSW |
1 |
78,401,678 (GRCm39) |
unclassified |
probably benign |
|
|
R9131:Farsb
|
UTSW |
1 |
78,459,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAATGACTAACTCACCCTACTG -3'
(R):5'- TCCTCACTCTGGTAGGAGAGAC -3'
Sequencing Primer
(F):5'- TGACTAACTCACCCTACTGAGAGTTC -3'
(R):5'- TCAGCTGGCTATAGCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation