Incidental Mutation 'R6720:Farsb'
| ID |
529519 |
| 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 |
044838-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R6720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
78394612-78465534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78449134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 99
(M99T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068333]
[ENSMUST00000170217]
[ENSMUST00000188247]
[ENSMUST00000189529]
[ENSMUST00000190441]
|
| AlphaFold |
Q9WUA2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068333
AA Change: M198T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069508
Gene: ENSMUSG00000026245
AA Change: M198T
| 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 damaging
Transcript: ENSMUST00000170217
AA Change: M198T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129828
Gene: ENSMUSG00000026245
AA Change: M198T
| 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 damaging
Transcript: ENSMUST00000188247
AA Change: M99T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139933
Gene: ENSMUSG00000026245
AA Change: M99T
| 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 |
noncoding transcript
Transcript: ENSMUST00000189931
|
| 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 |
|
| Meta Mutation Damage Score |
0.6025 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.6%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
G |
A |
4: 137,181,997 (GRCm39) |
E51K |
possibly damaging |
Het |
| Abca1 |
A |
C |
4: 53,083,733 (GRCm39) |
L700R |
probably damaging |
Het |
| Arpc1a |
C |
A |
5: 145,038,032 (GRCm39) |
|
probably null |
Het |
| Baz2b |
G |
T |
2: 59,755,234 (GRCm39) |
P241Q |
probably damaging |
Het |
| Cd6 |
T |
A |
19: 10,771,973 (GRCm39) |
T414S |
probably benign |
Het |
| Ces2b |
A |
T |
8: 105,563,501 (GRCm39) |
E409D |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,656,981 (GRCm39) |
Y3024H |
probably benign |
Het |
| Chrm1 |
A |
G |
19: 8,655,912 (GRCm39) |
T206A |
probably benign |
Het |
| Clptm1l |
T |
C |
13: 73,766,635 (GRCm39) |
W512R |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,247,552 (GRCm39) |
|
probably null |
Het |
| Cox15 |
A |
G |
19: 43,725,228 (GRCm39) |
S392P |
probably damaging |
Het |
| Cplx3 |
A |
G |
9: 57,521,355 (GRCm39) |
|
probably null |
Het |
| Cr2 |
T |
C |
1: 194,837,508 (GRCm39) |
M1197V |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,453,723 (GRCm39) |
K1281E |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,009,381 (GRCm39) |
F2094L |
probably damaging |
Het |
| Ear2 |
T |
A |
14: 44,340,416 (GRCm39) |
C25S |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,016,012 (GRCm39) |
D802G |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,729,449 (GRCm39) |
Q84* |
probably null |
Het |
| Eif4g3 |
T |
A |
4: 137,903,143 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,384,813 (GRCm39) |
D866G |
probably damaging |
Het |
| Foxs1 |
T |
A |
2: 152,774,640 (GRCm39) |
S138C |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 82,932,069 (GRCm39) |
S211R |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 36,274,730 (GRCm39) |
R1517Q |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,709,611 (GRCm39) |
I27M |
probably benign |
Het |
| H2-Q7 |
A |
G |
17: 35,661,654 (GRCm39) |
E299G |
probably benign |
Het |
| Hao2 |
T |
G |
3: 98,784,451 (GRCm39) |
I305L |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,445,444 (GRCm39) |
Q122* |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,317,760 (GRCm39) |
C2079S |
probably damaging |
Het |
| Hoxb1 |
C |
A |
11: 96,257,813 (GRCm39) |
Q248K |
probably damaging |
Het |
| Hspb6 |
A |
G |
7: 30,253,772 (GRCm39) |
D95G |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,542,126 (GRCm39) |
R117S |
probably damaging |
Het |
| Ino80d |
A |
C |
1: 63,097,769 (GRCm39) |
S708R |
probably damaging |
Het |
| Mmp15 |
A |
G |
8: 96,091,942 (GRCm39) |
N51D |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,559,585 (GRCm39) |
M1140V |
probably benign |
Het |
| Niban2 |
T |
A |
2: 32,795,838 (GRCm39) |
V22D |
probably damaging |
Het |
| Or1e1f |
A |
G |
11: 73,856,291 (GRCm39) |
N286D |
probably damaging |
Het |
| Or2y8 |
A |
G |
11: 52,035,520 (GRCm39) |
V279A |
probably benign |
Het |
| Or8b41 |
T |
A |
9: 38,054,449 (GRCm39) |
M1K |
probably null |
Het |
| Or8k21 |
A |
G |
2: 86,145,409 (GRCm39) |
S74P |
probably damaging |
Het |
| Pard3b |
A |
T |
1: 62,198,629 (GRCm39) |
N239I |
probably damaging |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 37,131,122 (GRCm39) |
S64P |
probably damaging |
Het |
| Pdcd1 |
T |
C |
1: 93,969,114 (GRCm39) |
N68S |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,143,916 (GRCm39) |
|
probably null |
Het |
| Plekha4 |
A |
T |
7: 45,190,310 (GRCm39) |
D359V |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,921,792 (GRCm39) |
I78V |
probably benign |
Het |
| Slc39a7 |
T |
A |
17: 34,249,082 (GRCm39) |
T269S |
probably benign |
Het |
| Sltm |
T |
G |
9: 70,480,992 (GRCm39) |
D281E |
probably damaging |
Het |
| Zfp708 |
T |
C |
13: 67,219,496 (GRCm39) |
Y76C |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,263,497 (GRCm39) |
V165D |
possibly 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 |
|
|
R7166:Farsb
|
UTSW |
1 |
78,447,821 (GRCm39) |
missense |
probably benign |
|
|
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'- GACTCCCTCAAAACCACTGTTG -3'
(R):5'- TTCAGAAAATTAGGCTCTCTGGC -3'
Sequencing Primer
(F):5'- GGTAAGGGTACTTTCCTCCTACAAG -3'
(R):5'- GGCTCTCTGGCTCTCATTTC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation