Incidental Mutation 'R4289:Tyw3'
| ID |
322319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyw3
|
| Ensembl Gene |
ENSMUSG00000047583 |
| Gene Name |
tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) |
| Synonyms |
5230400J09Rik |
| MMRRC Submission |
041654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4289 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
154282157-154302750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 154302645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 30
(F30I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029850]
[ENSMUST00000052774]
[ENSMUST00000122976]
[ENSMUST00000135723]
[ENSMUST00000140644]
[ENSMUST00000144764]
[ENSMUST00000170461]
[ENSMUST00000192462]
[ENSMUST00000194876]
[ENSMUST00000155232]
[ENSMUST00000155385]
[ENSMUST00000184537]
|
| AlphaFold |
Q8BSA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029850
|
| SMART Domains |
Protein: ENSMUSP00000029850
Gene: ENSMUSG00000028199
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
131 |
3.3e-14 |
PFAM |
|
Pfam:ADH_zinc_N
|
160 |
290 |
1.3e-30 |
PFAM |
|
Pfam:ADH_zinc_N_2
|
192 |
329 |
1.7e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052774
AA Change: F7I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057828
Gene: ENSMUSG00000047583
AA Change: F7I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TYW3
|
9 |
194 |
8.1e-61 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122976
AA Change: F30I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114437
Gene: ENSMUSG00000047583
AA Change: F30I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TYW3
|
31 |
149 |
4.4e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135723
|
| SMART Domains |
Protein: ENSMUSP00000143311
Gene: ENSMUSG00000028199
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1YB5|B
|
1 |
38 |
5e-17 |
PDB |
|
SCOP:d1qora1
|
9 |
38 |
9e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140644
|
| SMART Domains |
Protein: ENSMUSP00000115146
Gene: ENSMUSG00000028199
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
98 |
1.5e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144764
|
| SMART Domains |
Protein: ENSMUSP00000121269
Gene: ENSMUSG00000028199
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
132 |
2.6e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148680
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170461
AA Change: F7I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131461
Gene: ENSMUSG00000047583
AA Change: F7I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TYW3
|
8 |
144 |
8.1e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192462
|
| SMART Domains |
Protein: ENSMUSP00000142105
Gene: ENSMUSG00000028199
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
131 |
2.8e-16 |
PFAM |
|
Pfam:ADH_zinc_N
|
160 |
290 |
1.8e-29 |
PFAM |
|
Pfam:ADH_zinc_N_2
|
192 |
329 |
4.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194876
|
| SMART Domains |
Protein: ENSMUSP00000142101
Gene: ENSMUSG00000028199
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
139 |
2.2e-14 |
PFAM |
|
Pfam:ADH_zinc_N
|
160 |
290 |
1.4e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155232
|
| SMART Domains |
Protein: ENSMUSP00000118449
Gene: ENSMUSG00000028199
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
135 |
3.5e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155385
|
| SMART Domains |
Protein: ENSMUSP00000122619
Gene: ENSMUSG00000028199
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
130 |
2.1e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184537
|
| SMART Domains |
Protein: ENSMUSP00000139387
Gene: ENSMUSG00000028199
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
35 |
180 |
4.7e-17 |
PFAM |
|
Pfam:ADH_zinc_N
|
160 |
218 |
5.4e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.5609 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (56/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
C |
T |
3: 32,766,263 (GRCm39) |
T39M |
possibly damaging |
Het |
| Arhgdib |
T |
C |
6: 136,901,156 (GRCm39) |
N191S |
probably benign |
Het |
| Arhgef39 |
A |
G |
4: 43,497,353 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
G |
A |
12: 54,947,233 (GRCm39) |
R1139C |
probably damaging |
Het |
| Cdhr5 |
A |
T |
7: 140,852,752 (GRCm39) |
I78N |
probably damaging |
Het |
| Cfap97 |
T |
A |
8: 46,645,698 (GRCm39) |
N525K |
probably benign |
Het |
| Cntn2 |
T |
A |
1: 132,455,481 (GRCm39) |
Y252F |
probably benign |
Het |
| Cyp3a57 |
G |
A |
5: 145,286,207 (GRCm39) |
G48S |
probably damaging |
Het |
| Cyp4v3 |
A |
C |
8: 45,781,260 (GRCm39) |
F73V |
possibly damaging |
Het |
| Ear10 |
T |
C |
14: 44,160,404 (GRCm39) |
D141G |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,168,411 (GRCm39) |
I2309V |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,349,531 (GRCm39) |
D102G |
probably benign |
Het |
| Fdxacb1 |
A |
T |
9: 50,683,879 (GRCm39) |
Q614L |
probably damaging |
Het |
| Gm10267 |
T |
C |
18: 44,290,331 (GRCm39) |
T59A |
probably damaging |
Het |
| Gm5581 |
C |
T |
6: 131,144,519 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
G |
T |
7: 40,808,336 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1l |
A |
G |
17: 89,001,884 (GRCm39) |
T200A |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ift122 |
T |
C |
6: 115,900,852 (GRCm39) |
C1057R |
probably damaging |
Het |
| Kirrel3 |
A |
T |
9: 34,934,769 (GRCm39) |
N73I |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,490,798 (GRCm39) |
I433M |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,747,530 (GRCm39) |
|
probably benign |
Het |
| Mmp14 |
A |
T |
14: 54,673,665 (GRCm39) |
K110* |
probably null |
Het |
| Mms19 |
A |
G |
19: 41,933,992 (GRCm39) |
L938P |
probably damaging |
Het |
| Mrpl36 |
A |
T |
13: 73,479,777 (GRCm39) |
|
probably null |
Het |
| Mypn |
T |
C |
10: 62,966,961 (GRCm39) |
E905G |
probably damaging |
Het |
| Ncam1 |
G |
T |
9: 49,468,472 (GRCm39) |
T329N |
probably damaging |
Het |
| Nfkbie |
T |
C |
17: 45,869,516 (GRCm39) |
L157P |
probably damaging |
Het |
| Or14c45 |
T |
A |
7: 86,176,262 (GRCm39) |
I99N |
probably damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,319 (GRCm39) |
S10T |
probably benign |
Het |
| Pappa |
C |
T |
4: 65,074,100 (GRCm39) |
A218V |
probably benign |
Het |
| Plekhg5 |
T |
C |
4: 152,196,884 (GRCm39) |
Y737H |
probably benign |
Het |
| Plod2 |
G |
A |
9: 92,485,041 (GRCm39) |
R514Q |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,943,420 (GRCm39) |
R1888W |
probably damaging |
Het |
| Prss45 |
A |
G |
9: 110,669,997 (GRCm39) |
T269A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,681,151 (GRCm39) |
T784A |
probably damaging |
Het |
| Pycr3 |
T |
C |
15: 75,790,655 (GRCm39) |
N68S |
probably benign |
Het |
| Rbis |
T |
C |
3: 14,674,714 (GRCm39) |
M1V |
probably null |
Het |
| Rdh14 |
A |
T |
12: 10,444,949 (GRCm39) |
N267Y |
probably benign |
Het |
| Rph3a |
G |
A |
5: 121,111,368 (GRCm39) |
R71C |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,928,523 (GRCm39) |
V27E |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,417,771 (GRCm39) |
S312T |
probably damaging |
Het |
| Tcp11l2 |
T |
C |
10: 84,440,937 (GRCm39) |
|
probably null |
Het |
| Trdn |
C |
T |
10: 33,340,578 (GRCm39) |
S604L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,742 (GRCm39) |
T13669A |
probably benign |
Het |
| Vmn1r227 |
G |
T |
17: 20,956,092 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r74 |
C |
T |
7: 85,606,562 (GRCm39) |
M261I |
probably benign |
Het |
| Zfp217 |
C |
T |
2: 169,956,707 (GRCm39) |
G764S |
probably benign |
Het |
| Zfp267 |
A |
G |
3: 36,213,747 (GRCm39) |
N27S |
possibly damaging |
Het |
| Zfp748 |
T |
A |
13: 67,689,202 (GRCm39) |
H686L |
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 |
|
IGL03226:Tyw3
|
APN |
3 |
154,293,187 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACGCATTAGCATTGCACAG -3'
(R):5'- GGCTTTCCCTAACTTCGCTAGG -3'
Sequencing Primer
(F):5'- GCATTAGCATTGCACAGCCTCC -3'
(R):5'- CTCGGTTTACGCCTGTACGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation