Incidental Mutation 'R7079:Tyw3'
ID |
549408 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tyw3
|
Ensembl Gene |
ENSMUSG00000047583 |
Gene Name |
tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) |
Synonyms |
5230400J09Rik |
MMRRC Submission |
045173-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R7079 (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: 99.2%
|
Validation Efficiency |
98% (50/51) |
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 |
2210408I21Rik |
T |
C |
13: 77,402,323 (GRCm39) |
L405S |
possibly damaging |
Het |
2310009B15Rik |
T |
A |
1: 138,779,865 (GRCm39) |
Q129L |
possibly damaging |
Het |
4921509C19Rik |
T |
G |
2: 151,315,198 (GRCm39) |
D160A |
probably damaging |
Het |
Aspn |
A |
G |
13: 49,720,031 (GRCm39) |
Y349C |
probably damaging |
Het |
Atp2b1 |
A |
G |
10: 98,854,595 (GRCm39) |
T1063A |
probably benign |
Het |
BC035947 |
T |
C |
1: 78,474,552 (GRCm39) |
E660G |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,323,408 (GRCm39) |
L970P |
probably damaging |
Het |
Caskin1 |
T |
C |
17: 24,717,858 (GRCm39) |
I215T |
probably benign |
Het |
Cort |
C |
G |
4: 149,211,848 (GRCm39) |
G85R |
probably benign |
Het |
Cyp1a2 |
T |
C |
9: 57,589,161 (GRCm39) |
I218V |
probably benign |
Het |
Egfem1 |
T |
A |
3: 29,207,731 (GRCm39) |
H140Q |
probably benign |
Het |
Elapor2 |
A |
G |
5: 9,449,253 (GRCm39) |
Y127C |
probably damaging |
Het |
Fbln5 |
G |
A |
12: 101,723,667 (GRCm39) |
P345S |
probably damaging |
Het |
Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
Gfpt2 |
G |
A |
11: 49,728,578 (GRCm39) |
V679I |
possibly damaging |
Het |
Gm10837 |
C |
G |
14: 122,728,142 (GRCm39) |
A6G |
unknown |
Het |
Grm1 |
T |
C |
10: 10,955,702 (GRCm39) |
D194G |
probably damaging |
Het |
Hectd1 |
G |
A |
12: 51,834,638 (GRCm39) |
T875M |
possibly damaging |
Het |
Hey2 |
T |
A |
10: 30,710,382 (GRCm39) |
I124F |
probably benign |
Het |
Hhat |
T |
C |
1: 192,235,354 (GRCm39) |
H434R |
possibly damaging |
Het |
Itpripl2 |
A |
G |
7: 118,090,092 (GRCm39) |
F156L |
possibly damaging |
Het |
Kctd11 |
A |
G |
11: 69,770,847 (GRCm39) |
Y64H |
probably damaging |
Het |
Lmln |
T |
C |
16: 32,887,661 (GRCm39) |
L97P |
probably benign |
Het |
Lrrc30 |
T |
C |
17: 67,939,016 (GRCm39) |
D188G |
possibly damaging |
Het |
Mmd |
T |
A |
11: 90,158,325 (GRCm39) |
|
probably null |
Het |
Nav3 |
G |
A |
10: 109,603,153 (GRCm39) |
S1132L |
probably benign |
Het |
Or1l4 |
C |
A |
2: 37,092,185 (GRCm39) |
H311N |
probably benign |
Het |
Or4c101 |
C |
A |
2: 88,389,853 (GRCm39) |
N2K |
probably damaging |
Het |
Or52ab7 |
C |
T |
7: 102,978,391 (GRCm39) |
R233C |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,152,957 (GRCm39) |
T421A |
probably benign |
Het |
Pfkm |
G |
A |
15: 97,992,963 (GRCm39) |
R7H |
probably benign |
Het |
Psme2b |
A |
G |
11: 48,836,443 (GRCm39) |
F168S |
probably damaging |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Ptpn13 |
T |
C |
5: 103,649,752 (GRCm39) |
V385A |
probably benign |
Het |
Reep5 |
G |
A |
18: 34,480,176 (GRCm39) |
T189I |
probably damaging |
Het |
Sacm1l |
T |
A |
9: 123,399,062 (GRCm39) |
Y272N |
probably damaging |
Het |
Slc26a6 |
T |
A |
9: 108,735,147 (GRCm39) |
H348Q |
probably damaging |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
16: 91,453,729 (GRCm39) |
|
probably benign |
Het |
Spata31f1a |
T |
C |
4: 42,851,718 (GRCm39) |
E146G |
probably benign |
Het |
Stkld1 |
A |
G |
2: 26,839,359 (GRCm39) |
I342V |
probably benign |
Het |
Trim23 |
A |
T |
13: 104,323,801 (GRCm39) |
|
probably null |
Het |
Trmt13 |
T |
C |
3: 116,376,480 (GRCm39) |
T304A |
probably benign |
Het |
Ubqln3 |
A |
T |
7: 103,790,578 (GRCm39) |
I504K |
probably benign |
Het |
Uhrf2 |
T |
G |
19: 30,060,190 (GRCm39) |
N519K |
probably null |
Het |
Wdr93 |
T |
C |
7: 79,399,040 (GRCm39) |
M58T |
probably damaging |
Het |
Wwc2 |
G |
A |
8: 48,300,580 (GRCm39) |
T961M |
unknown |
Het |
Zfp35 |
C |
T |
18: 24,136,357 (GRCm39) |
H234Y |
possibly damaging |
Het |
Zscan21 |
C |
T |
5: 138,124,728 (GRCm39) |
P215S |
probably benign |
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 |
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'- ACTTTCCCAGAGATGACCGG -3'
(R):5'- ATAGGCTCCACAGGAAACTAAG -3'
Sequencing Primer
(F):5'- AGAGATGACCGGGAGTCCCTAC -3'
(R):5'- TGTTTGTAATAAAAATGAGGGCAGAG -3'
|
Posted On |
2019-05-15 |