Incidental Mutation 'R7080:Tyw3'
| ID |
549453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyw3
|
| Ensembl Gene |
ENSMUSG00000047583 |
| Gene Name |
tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) |
| Synonyms |
5230400J09Rik |
| MMRRC Submission |
045174-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R7080 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
154282157-154302750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 154299426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 94
(S94R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029850]
[ENSMUST00000052774]
[ENSMUST00000122976]
[ENSMUST00000135723]
[ENSMUST00000140644]
[ENSMUST00000144764]
[ENSMUST00000155232]
[ENSMUST00000155385]
[ENSMUST00000170461]
[ENSMUST00000184537]
[ENSMUST00000192462]
[ENSMUST00000194876]
|
| 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 benign
Transcript: ENSMUST00000052774
AA Change: S94R
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000057828
Gene: ENSMUSG00000047583
AA Change: S94R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TYW3
|
9 |
194 |
8.1e-61 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122976
AA Change: S117R
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114437
Gene: ENSMUSG00000047583
AA Change: S117R
| 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 |
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: ENSMUST00000170461
AA Change: S94R
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000131461
Gene: ENSMUSG00000047583
AA Change: S94R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TYW3
|
8 |
144 |
8.1e-45 |
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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
94% (47/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,336,116 (GRCm39) |
E2162G |
probably benign |
Het |
| Ackr4 |
A |
G |
9: 103,976,761 (GRCm39) |
V62A |
probably damaging |
Het |
| Atox1 |
T |
A |
11: 55,341,365 (GRCm39) |
K57* |
probably null |
Het |
| Atp6v1e1 |
G |
A |
6: 120,799,350 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
T |
C |
1: 59,906,842 (GRCm39) |
V645A |
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,810,730 (GRCm39) |
T1602A |
probably benign |
Het |
| Cdc42bpg |
T |
C |
19: 6,365,219 (GRCm39) |
V692A |
probably damaging |
Het |
| Cdca2 |
T |
C |
14: 67,935,551 (GRCm39) |
D388G |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,816,652 (GRCm39) |
R1764C |
possibly damaging |
Het |
| Copz2 |
G |
T |
11: 96,747,538 (GRCm39) |
V174L |
probably benign |
Het |
| Dnaaf1 |
T |
C |
8: 120,309,335 (GRCm39) |
L141P |
probably damaging |
Het |
| Fam170a |
T |
A |
18: 50,413,740 (GRCm39) |
|
probably null |
Het |
| Fshr |
A |
T |
17: 89,404,539 (GRCm39) |
|
probably null |
Het |
| Gbx1 |
C |
T |
5: 24,731,298 (GRCm39) |
A173T |
probably benign |
Het |
| Gm3604 |
G |
A |
13: 62,518,109 (GRCm39) |
A83V |
probably damaging |
Het |
| Gpr19 |
A |
T |
6: 134,847,419 (GRCm39) |
V88D |
probably damaging |
Het |
| Hnrnpd |
C |
T |
5: 100,124,392 (GRCm39) |
|
probably null |
Het |
| Homez |
T |
C |
14: 55,095,112 (GRCm39) |
S199G |
probably benign |
Het |
| Kit |
T |
C |
5: 75,767,941 (GRCm39) |
I108T |
probably damaging |
Het |
| Lrrc34 |
A |
C |
3: 30,688,705 (GRCm39) |
Y199D |
probably damaging |
Het |
| Mapk12 |
T |
C |
15: 89,017,350 (GRCm39) |
D208G |
probably damaging |
Het |
| Mon1a |
A |
G |
9: 107,778,985 (GRCm39) |
D403G |
probably damaging |
Het |
| Myo1d |
C |
T |
11: 80,565,460 (GRCm39) |
E426K |
probably damaging |
Het |
| Nol11 |
G |
A |
11: 107,070,878 (GRCm39) |
T307I |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,444 (GRCm39) |
C208R |
probably damaging |
Het |
| Or52b4 |
A |
T |
7: 102,184,172 (GRCm39) |
I73F |
possibly damaging |
Het |
| Or5aq1b |
A |
G |
2: 86,902,083 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or6d15 |
A |
T |
6: 116,559,314 (GRCm39) |
F198I |
probably damaging |
Het |
| Or8k28 |
A |
T |
2: 86,285,835 (GRCm39) |
L260* |
probably null |
Het |
| Pcdhb16 |
C |
T |
18: 37,611,516 (GRCm39) |
Q159* |
probably null |
Het |
| Phf19 |
G |
A |
2: 34,788,724 (GRCm39) |
|
probably null |
Het |
| Qrfpr |
C |
T |
3: 36,234,198 (GRCm39) |
R381H |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,506,366 (GRCm39) |
D96G |
probably benign |
Het |
| Ranbp1 |
T |
C |
16: 18,063,097 (GRCm39) |
D93G |
possibly damaging |
Het |
| Reep1 |
A |
G |
6: 71,757,749 (GRCm39) |
D116G |
possibly damaging |
Het |
| Rinl |
T |
C |
7: 28,496,101 (GRCm39) |
C361R |
probably damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,397,666 (GRCm39) |
D393G |
probably damaging |
Het |
| Slc2a12 |
T |
C |
10: 22,541,216 (GRCm39) |
V357A |
probably benign |
Het |
| Spryd3 |
T |
C |
15: 102,026,627 (GRCm39) |
D348G |
probably benign |
Het |
| Syne2 |
G |
A |
12: 76,099,501 (GRCm39) |
A569T |
probably benign |
Het |
| Tcstv5 |
T |
C |
13: 120,411,270 (GRCm39) |
D112G |
probably benign |
Het |
| Thoc6 |
C |
T |
17: 23,892,503 (GRCm39) |
R6Q |
probably null |
Het |
| Unc13b |
C |
T |
4: 43,171,926 (GRCm39) |
T918I |
unknown |
Het |
| Unc80 |
A |
T |
1: 66,685,680 (GRCm39) |
H2268L |
possibly damaging |
Het |
| Urod |
C |
T |
4: 116,849,838 (GRCm39) |
A187T |
probably damaging |
Het |
| Usp46 |
G |
T |
5: 74,177,344 (GRCm39) |
N205K |
probably benign |
Het |
| Wapl |
T |
C |
14: 34,414,313 (GRCm39) |
F392L |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,680,305 (GRCm39) |
T453A |
possibly 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 |
|
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 |
|
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'- TACTTTCCCAGAGATGACCGG -3'
(R):5'- CTTCATAGGCTCCACAGGAAAC -3'
Sequencing Primer
(F):5'- AGAGATGACCGGGAGTCCCTAC -3'
(R):5'- TGTTTGTAATAAAAATGAGGGCAGAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation