Incidental Mutation 'R5459:Tyw1'
| ID |
432922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyw1
|
| Ensembl Gene |
ENSMUSG00000056310 |
| Gene Name |
tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) |
| Synonyms |
Rsafd1 |
| MMRRC Submission |
043022-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5459 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
130284460-130370404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 130303547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 305
(D305A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040213]
[ENSMUST00000044204]
[ENSMUST00000100662]
|
| AlphaFold |
Q8BJM7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040213
AA Change: D305A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037173
Gene: ENSMUSG00000056310
AA Change: D305A
| 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: D305A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047318
Gene: ENSMUSG00000056310
AA Change: D305A
| 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 damaging
Transcript: ENSMUST00000100662
AA Change: D305A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098226
Gene: ENSMUSG00000056310
AA Change: D305A
| 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 |
noncoding transcript
Transcript: ENSMUST00000173375
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
A |
G |
17: 35,879,079 (GRCm39) |
E139G |
possibly damaging |
Het |
| Abcc6 |
T |
C |
7: 45,631,607 (GRCm39) |
N1223S |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,839,332 (GRCm39) |
|
probably null |
Het |
| Aloxe3 |
T |
A |
11: 69,023,654 (GRCm39) |
F259Y |
possibly damaging |
Het |
| Armc9 |
G |
A |
1: 86,135,694 (GRCm39) |
R550Q |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,887,334 (GRCm39) |
D787G |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,148,472 (GRCm39) |
I283V |
probably null |
Het |
| Ebf2 |
A |
G |
14: 67,472,650 (GRCm39) |
M23V |
probably benign |
Het |
| Fbxw11 |
T |
C |
11: 32,689,191 (GRCm39) |
V438A |
possibly damaging |
Het |
| Fcrla |
G |
A |
1: 170,745,738 (GRCm39) |
T348M |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,227,483 (GRCm39) |
H1557Q |
probably benign |
Het |
| Gpr87 |
A |
G |
3: 59,087,148 (GRCm39) |
V119A |
possibly damaging |
Het |
| Grep1 |
C |
T |
17: 23,930,817 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,052,629 (GRCm39) |
S285P |
probably damaging |
Het |
| Hs3st5 |
T |
C |
10: 36,704,742 (GRCm39) |
V15A |
possibly damaging |
Het |
| Hyal5 |
C |
T |
6: 24,891,250 (GRCm39) |
H355Y |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Map4k3 |
T |
A |
17: 80,917,216 (GRCm39) |
N587Y |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,332,316 (GRCm39) |
L1211* |
probably null |
Het |
| Mcmdc2 |
A |
G |
1: 10,007,309 (GRCm39) |
I620V |
probably benign |
Het |
| Mical2 |
C |
T |
7: 111,981,444 (GRCm39) |
H539Y |
probably benign |
Het |
| Myo9a |
T |
C |
9: 59,791,803 (GRCm39) |
L1802P |
probably damaging |
Het |
| Neto2 |
T |
A |
8: 86,397,112 (GRCm39) |
I47F |
probably benign |
Het |
| Oog3 |
G |
A |
4: 143,885,815 (GRCm39) |
T261I |
probably benign |
Het |
| Or5b95 |
A |
G |
19: 12,657,799 (GRCm39) |
E109G |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,086,158 (GRCm39) |
L519P |
probably benign |
Het |
| Pnpla6 |
A |
T |
8: 3,585,829 (GRCm39) |
M844L |
probably benign |
Het |
| Polk |
C |
T |
13: 96,631,984 (GRCm39) |
G250R |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 156,985,231 (GRCm39) |
S839P |
probably damaging |
Het |
| Siae |
T |
C |
9: 37,528,119 (GRCm39) |
Y31H |
probably damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,422,912 (GRCm39) |
V379A |
probably damaging |
Het |
| Snx9 |
C |
T |
17: 5,970,913 (GRCm39) |
T418M |
probably damaging |
Het |
| Spata31e2 |
A |
C |
1: 26,724,272 (GRCm39) |
S303A |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,185 (GRCm39) |
T258A |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,576,921 (GRCm39) |
D1058E |
probably damaging |
Het |
| Tecpr1 |
T |
A |
5: 144,144,234 (GRCm39) |
Y656F |
probably damaging |
Het |
| Tnik |
T |
A |
3: 28,715,890 (GRCm39) |
I1168K |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,014,510 (GRCm39) |
E587G |
probably damaging |
Het |
| Vmn1r19 |
T |
A |
6: 57,381,475 (GRCm39) |
Y9* |
probably null |
Het |
| Zkscan3 |
A |
T |
13: 21,578,982 (GRCm39) |
V142E |
probably damaging |
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 |
|
|
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 |
|
R8006:Tyw1
|
UTSW |
5 |
130,296,913 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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'- AAGGTGCTTTGAAGTGAGGC -3'
(R):5'- AAACAGAACCCTTCCAGGTG -3'
Sequencing Primer
(F):5'- CTGCCCAGGATTGTGAAAGGC -3'
(R):5'- GGAAGCTAGAGAAATTAAGCTGCC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation