Incidental Mutation 'IGL03226:Tyw3'
| ID |
414834 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tyw3
|
| Ensembl Gene |
ENSMUSG00000047583 |
| Gene Name |
tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) |
| Synonyms |
5230400J09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL03226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
154282157-154302750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 154293187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 163
(T163A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052774]
[ENSMUST00000122976]
[ENSMUST00000170461]
|
| AlphaFold |
Q8BSA9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052774
AA Change: T163A
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057828
Gene: ENSMUSG00000047583
AA Change: T163A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TYW3
|
9 |
194 |
8.1e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122976
|
| SMART Domains |
Protein: ENSMUSP00000114437
Gene: ENSMUSG00000047583
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TYW3
|
31 |
149 |
4.4e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148680
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170461
|
| SMART Domains |
Protein: ENSMUSP00000131461
Gene: ENSMUSG00000047583
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TYW3
|
8 |
144 |
8.1e-45 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW3 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
G |
14: 70,395,058 (GRCm39) |
V32A |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,225,679 (GRCm39) |
T944A |
probably benign |
Het |
| Bcat2 |
T |
A |
7: 45,237,778 (GRCm39) |
V348E |
probably damaging |
Het |
| Bnip2 |
A |
G |
9: 69,903,456 (GRCm39) |
D36G |
probably benign |
Het |
| C2cd5 |
T |
A |
6: 143,018,292 (GRCm39) |
D310V |
possibly damaging |
Het |
| Cltc |
G |
A |
11: 86,611,113 (GRCm39) |
T582M |
probably damaging |
Het |
| Cplx3 |
A |
T |
9: 57,517,290 (GRCm39) |
Y365N |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,125,918 (GRCm39) |
H1896R |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,028,501 (GRCm39) |
R413G |
possibly damaging |
Het |
| Fam131b |
C |
T |
6: 42,295,888 (GRCm39) |
M169I |
possibly damaging |
Het |
| Fam241b |
A |
G |
10: 61,945,671 (GRCm39) |
S52P |
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,194,498 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
T |
A |
3: 82,026,331 (GRCm39) |
Q41L |
probably benign |
Het |
| Ifna16 |
T |
C |
4: 88,594,741 (GRCm39) |
D118G |
probably benign |
Het |
| Kcnn1 |
T |
C |
8: 71,299,135 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Lyst |
A |
T |
13: 13,884,144 (GRCm39) |
H2984L |
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,462,403 (GRCm39) |
Q369* |
probably null |
Het |
| Nalcn |
A |
C |
14: 123,518,527 (GRCm39) |
W1671G |
probably benign |
Het |
| Ndrg2 |
G |
A |
14: 52,144,026 (GRCm39) |
|
probably benign |
Het |
| Nfia |
C |
A |
4: 97,951,286 (GRCm39) |
P371Q |
probably damaging |
Het |
| Or10d5 |
A |
C |
9: 39,861,719 (GRCm39) |
|
probably null |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,009 (GRCm39) |
D159G |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,960,959 (GRCm39) |
D432E |
possibly damaging |
Het |
| Pramel17 |
T |
A |
4: 101,692,594 (GRCm39) |
T469S |
probably benign |
Het |
| Rab2a |
A |
G |
4: 8,606,448 (GRCm39) |
N195S |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,173,308 (GRCm39) |
Y1764H |
possibly damaging |
Het |
| Scap |
A |
G |
9: 110,213,335 (GRCm39) |
T1127A |
possibly damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,328 (GRCm39) |
T193A |
probably benign |
Het |
| Slc45a2 |
A |
G |
15: 11,022,278 (GRCm39) |
D340G |
probably damaging |
Het |
| Tbc1d23 |
A |
T |
16: 57,034,625 (GRCm39) |
L58Q |
probably damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,110,937 (GRCm39) |
T119A |
probably damaging |
Het |
| Tnfsf10 |
C |
A |
3: 27,389,597 (GRCm39) |
Y219* |
probably null |
Het |
| Traip |
G |
A |
9: 107,848,192 (GRCm39) |
R437Q |
probably damaging |
Het |
|
| Other mutations in Tyw3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02444:Tyw3
|
APN |
3 |
154,302,626 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0211:Tyw3
|
UTSW |
3 |
154,293,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Tyw3
|
UTSW |
3 |
154,293,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1348:Tyw3
|
UTSW |
3 |
154,299,451 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1443:Tyw3
|
UTSW |
3 |
154,293,160 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1538:Tyw3
|
UTSW |
3 |
154,302,506 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4289:Tyw3
|
UTSW |
3 |
154,302,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5279:Tyw3
|
UTSW |
3 |
154,300,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6090:Tyw3
|
UTSW |
3 |
154,302,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6982:Tyw3
|
UTSW |
3 |
154,285,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7079:Tyw3
|
UTSW |
3 |
154,299,426 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7080:Tyw3
|
UTSW |
3 |
154,299,426 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7090:Tyw3
|
UTSW |
3 |
154,299,426 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9774:Tyw3
|
UTSW |
3 |
154,302,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation