Incidental Mutation 'R8006:Tyw1'
| ID |
616622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyw1
|
| Ensembl Gene |
ENSMUSG00000056310 |
| Gene Name |
tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) |
| Synonyms |
Rsafd1 |
| MMRRC Submission |
046046-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
130284460-130370404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 130296913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 177
(R177W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040213]
[ENSMUST00000044204]
[ENSMUST00000100662]
[ENSMUST00000147619]
|
| AlphaFold |
Q8BJM7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040213
AA Change: R177W
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037173
Gene: ENSMUSG00000056310
AA Change: R177W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
Pfam:Flavodoxin_1
|
73 |
224 |
1.6e-27 |
PFAM |
|
low complexity region
|
276 |
288 |
N/A |
INTRINSIC |
|
Pfam:Radical_SAM
|
399 |
581 |
1.1e-29 |
PFAM |
|
Pfam:Wyosine_form
|
583 |
646 |
3.6e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044204
AA Change: R177W
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047318
Gene: ENSMUSG00000056310
AA Change: R177W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
Pfam:Flavodoxin_1
|
73 |
224 |
1.5e-27 |
PFAM |
|
low complexity region
|
276 |
288 |
N/A |
INTRINSIC |
|
transmembrane domain
|
375 |
397 |
N/A |
INTRINSIC |
|
transmembrane domain
|
423 |
445 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100662
AA Change: R177W
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000098226
Gene: ENSMUSG00000056310
AA Change: R177W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
Pfam:Flavodoxin_1
|
73 |
224 |
4.9e-28 |
PFAM |
|
low complexity region
|
276 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147619
AA Change: R154W
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123693
Gene: ENSMUSG00000056310
AA Change: R154W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Flavodoxin_1
|
50 |
201 |
4.3e-28 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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 found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
A |
8: 41,248,944 (GRCm39) |
H351Q |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,989,447 (GRCm39) |
V3577A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,229,444 (GRCm39) |
S126P |
probably damaging |
Het |
| Akip1 |
A |
G |
7: 109,303,199 (GRCm39) |
D14G |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,781,772 (GRCm39) |
R287G |
|
Het |
| Ankrd13a |
A |
C |
5: 114,942,484 (GRCm39) |
*589S |
probably null |
Het |
| Ankrd34c |
T |
C |
9: 89,611,889 (GRCm39) |
I151V |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,243,518 (GRCm39) |
D880E |
probably benign |
Het |
| Arl3 |
A |
C |
19: 46,546,813 (GRCm39) |
L4R |
probably damaging |
Het |
| Ate1 |
T |
A |
7: 130,069,118 (GRCm39) |
Q340L |
probably damaging |
Het |
| Ccdc38 |
A |
T |
10: 93,391,448 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
C |
T |
9: 108,706,306 (GRCm39) |
P930S |
probably damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,664,590 (GRCm39) |
Y490H |
probably damaging |
Het |
| Cox18 |
C |
T |
5: 90,371,672 (GRCm39) |
V43M |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 63,417,790 (GRCm39) |
K176R |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,334,183 (GRCm39) |
T1004A |
probably benign |
Het |
| Fam227a |
A |
G |
15: 79,518,299 (GRCm39) |
I335T |
possibly damaging |
Het |
| Gm14496 |
A |
G |
2: 181,637,669 (GRCm39) |
I248V |
probably benign |
Het |
| Gm6871 |
T |
C |
7: 41,195,106 (GRCm39) |
T544A |
probably benign |
Het |
| Grm6 |
A |
T |
11: 50,755,484 (GRCm39) |
*872L |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,352,842 (GRCm39) |
Y2109* |
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,245,735 (GRCm39) |
V80E |
possibly damaging |
Het |
| Itgb3 |
T |
C |
11: 104,556,322 (GRCm39) |
V721A |
possibly damaging |
Het |
| Jade1 |
A |
T |
3: 41,568,124 (GRCm39) |
I731L |
probably benign |
Het |
| Khnyn |
G |
A |
14: 56,125,047 (GRCm39) |
V434I |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,425,488 (GRCm39) |
L714P |
probably damaging |
Het |
| Lrrc41 |
G |
A |
4: 115,952,085 (GRCm39) |
E585K |
possibly damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,004,673 (GRCm39) |
Y70C |
probably damaging |
Het |
| Mex3a |
T |
A |
3: 88,444,393 (GRCm39) |
C490S |
probably damaging |
Het |
| Mmp27 |
C |
T |
9: 7,578,985 (GRCm39) |
R387C |
probably damaging |
Het |
| Mro |
A |
T |
18: 74,010,577 (GRCm39) |
D219V |
possibly damaging |
Het |
| Myot |
T |
A |
18: 44,487,904 (GRCm39) |
L407Q |
probably damaging |
Het |
| Nppa |
T |
A |
4: 148,085,638 (GRCm39) |
W82R |
probably damaging |
Het |
| Or10g6 |
T |
G |
9: 39,933,770 (GRCm39) |
L27R |
probably damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,532 (GRCm39) |
C244S |
probably damaging |
Het |
| Or5ak24 |
T |
C |
2: 85,260,318 (GRCm39) |
N285S |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,772,179 (GRCm39) |
I1123L |
possibly damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,661,831 (GRCm39) |
I695T |
probably benign |
Het |
| Ppp1r10 |
A |
T |
17: 36,239,158 (GRCm39) |
M347L |
probably benign |
Het |
| Reln |
A |
T |
5: 22,104,082 (GRCm39) |
C3296* |
probably null |
Het |
| Semp2l1 |
T |
A |
1: 32,586,005 (GRCm39) |
|
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,930,756 (GRCm39) |
L611Q |
probably damaging |
Het |
| Spire1 |
G |
A |
18: 67,634,251 (GRCm39) |
Q396* |
probably null |
Het |
| Taf2 |
A |
G |
15: 54,912,097 (GRCm39) |
F537L |
probably damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,046,898 (GRCm39) |
E451K |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tmem267 |
T |
A |
13: 120,070,774 (GRCm39) |
V143E |
probably damaging |
Het |
| Vcp |
A |
T |
4: 42,985,993 (GRCm39) |
H340Q |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,159,182 (GRCm39) |
D533G |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,650,174 (GRCm39) |
C331S |
probably benign |
Het |
| Zik1 |
A |
T |
7: 10,224,100 (GRCm39) |
C332* |
probably null |
Het |
|
| Other mutations in Tyw1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02329:Tyw1
|
APN |
5 |
130,295,921 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02873:Tyw1
|
APN |
5 |
130,364,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02879:Tyw1
|
APN |
5 |
130,325,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03080:Tyw1
|
APN |
5 |
130,295,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03291:Tyw1
|
APN |
5 |
130,328,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03297:Tyw1
|
APN |
5 |
130,369,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
remnant
|
UTSW |
5 |
130,291,762 (GRCm39) |
missense |
probably damaging |
0.99 |
|
schimmel
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tyrone
|
UTSW |
5 |
130,325,520 (GRCm39) |
nonsense |
probably null |
|
|
yang
|
UTSW |
5 |
130,287,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1420:Tyw1
|
UTSW |
5 |
130,303,586 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1650:Tyw1
|
UTSW |
5 |
130,317,752 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1674:Tyw1
|
UTSW |
5 |
130,298,169 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1789:Tyw1
|
UTSW |
5 |
130,287,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1996:Tyw1
|
UTSW |
5 |
130,291,652 (GRCm39) |
splice site |
probably benign |
|
|
R2421:Tyw1
|
UTSW |
5 |
130,298,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Tyw1
|
UTSW |
5 |
130,287,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4412:Tyw1
|
UTSW |
5 |
130,364,073 (GRCm39) |
splice site |
probably null |
|
|
R4835:Tyw1
|
UTSW |
5 |
130,305,899 (GRCm39) |
missense |
probably benign |
|
|
R5058:Tyw1
|
UTSW |
5 |
130,305,927 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5190:Tyw1
|
UTSW |
5 |
130,296,756 (GRCm39) |
nonsense |
probably null |
|
|
R5398:Tyw1
|
UTSW |
5 |
130,305,998 (GRCm39) |
intron |
probably benign |
|
|
R5459:Tyw1
|
UTSW |
5 |
130,303,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5597:Tyw1
|
UTSW |
5 |
130,303,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5704:Tyw1
|
UTSW |
5 |
130,310,863 (GRCm39) |
nonsense |
probably null |
|
|
R5825:Tyw1
|
UTSW |
5 |
130,296,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5887:Tyw1
|
UTSW |
5 |
130,354,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6072:Tyw1
|
UTSW |
5 |
130,296,752 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6349:Tyw1
|
UTSW |
5 |
130,305,872 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6366:Tyw1
|
UTSW |
5 |
130,310,792 (GRCm39) |
unclassified |
probably benign |
|
|
R7012:Tyw1
|
UTSW |
5 |
130,306,571 (GRCm39) |
splice site |
probably null |
|
|
R7259:Tyw1
|
UTSW |
5 |
130,296,713 (GRCm39) |
splice site |
probably null |
|
|
R7328:Tyw1
|
UTSW |
5 |
130,291,685 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7555:Tyw1
|
UTSW |
5 |
130,303,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Tyw1
|
UTSW |
5 |
130,328,855 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8196:Tyw1
|
UTSW |
5 |
130,328,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8714:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8715:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8716:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9117:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9119:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9120:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9172:Tyw1
|
UTSW |
5 |
130,325,520 (GRCm39) |
nonsense |
probably null |
|
|
R9204:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9207:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9325:Tyw1
|
UTSW |
5 |
130,291,762 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9364:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9368:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9369:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9470:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9471:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9566:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9567:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTTCTGACATAGCACTGC -3'
(R):5'- TACACATGGTGCACAGAGAAAC -3'
Sequencing Primer
(F):5'- GACATAGCACTGCTTCATTCAG -3'
(R):5'- CACAGAGAAACGTGCAGGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation