Incidental Mutation 'R6366:Tyw1'
ID |
512685 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tyw1
|
Ensembl Gene |
ENSMUSG00000056310 |
Gene Name |
tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) |
Synonyms |
Rsafd1 |
MMRRC Submission |
044516-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6366 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
130284460-130370404 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 130310792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098226
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040213]
[ENSMUST00000044204]
[ENSMUST00000100662]
|
AlphaFold |
Q8BJM7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040213
|
SMART Domains |
Protein: ENSMUSP00000037173 Gene: ENSMUSG00000056310
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 |
unknown
Transcript: ENSMUST00000044204
AA Change: F414L
|
SMART Domains |
Protein: ENSMUSP00000047318 Gene: ENSMUSG00000056310 AA Change: F414L
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
|
SMART Domains |
Protein: ENSMUSP00000098226 Gene: ENSMUSG00000056310
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.0%
- 20x: 93.4%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
G |
3: 116,584,766 (GRCm39) |
F185L |
probably damaging |
Het |
Ank3 |
A |
G |
10: 69,835,188 (GRCm39) |
D131G |
probably damaging |
Het |
Boc |
T |
C |
16: 44,308,015 (GRCm39) |
K947E |
probably benign |
Het |
Ccdc110 |
A |
G |
8: 46,396,425 (GRCm39) |
E772G |
probably damaging |
Het |
Ccdc7a |
A |
G |
8: 129,582,473 (GRCm39) |
V1055A |
unknown |
Het |
Chd1l |
A |
G |
3: 97,501,476 (GRCm39) |
V190A |
probably benign |
Het |
Chl1 |
C |
A |
6: 103,706,197 (GRCm39) |
N396K |
possibly damaging |
Het |
CN725425 |
T |
G |
15: 91,131,124 (GRCm39) |
Y420D |
possibly damaging |
Het |
Col6a1 |
A |
T |
10: 76,546,804 (GRCm39) |
I806N |
unknown |
Het |
Csmd2 |
A |
G |
4: 128,377,245 (GRCm39) |
K2042E |
probably benign |
Het |
Eif4a1 |
G |
T |
11: 69,561,781 (GRCm39) |
D15E |
probably benign |
Het |
Etfb |
T |
C |
7: 43,102,365 (GRCm39) |
L119S |
probably damaging |
Het |
Fbxo42 |
T |
A |
4: 140,927,260 (GRCm39) |
S513R |
probably benign |
Het |
Gys2 |
C |
A |
6: 142,409,120 (GRCm39) |
C45F |
probably benign |
Het |
Hspa1a |
G |
A |
17: 35,189,500 (GRCm39) |
P468S |
probably damaging |
Het |
Kdm2a |
G |
T |
19: 4,374,960 (GRCm39) |
Q724K |
probably benign |
Het |
Lama3 |
G |
T |
18: 12,615,194 (GRCm39) |
G1373W |
probably damaging |
Het |
Lhx1 |
A |
T |
11: 84,413,034 (GRCm39) |
F84Y |
probably damaging |
Het |
Lpxn |
G |
A |
19: 12,802,163 (GRCm39) |
V163M |
probably benign |
Het |
Lrrc7 |
T |
C |
3: 157,841,012 (GRCm39) |
Q1389R |
probably benign |
Het |
Lrtm2 |
T |
C |
6: 119,294,238 (GRCm39) |
R298G |
probably damaging |
Het |
Ltv1 |
A |
G |
10: 13,056,739 (GRCm39) |
V268A |
probably benign |
Het |
Mgat4d |
T |
A |
8: 84,095,580 (GRCm39) |
|
probably null |
Het |
Mknk2 |
C |
A |
10: 80,507,767 (GRCm39) |
R33L |
probably damaging |
Het |
Ms4a1 |
A |
G |
19: 11,236,062 (GRCm39) |
S42P |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,557,340 (GRCm39) |
I2984M |
unknown |
Het |
Mup12 |
A |
C |
4: 60,696,657 (GRCm39) |
F74V |
probably damaging |
Het |
Nacad |
A |
C |
11: 6,551,196 (GRCm39) |
L665R |
probably benign |
Het |
Pde6a |
T |
A |
18: 61,398,142 (GRCm39) |
|
probably null |
Het |
Plb1 |
A |
G |
5: 32,471,429 (GRCm39) |
N579D |
possibly damaging |
Het |
Podn |
T |
A |
4: 107,876,001 (GRCm39) |
I552F |
possibly damaging |
Het |
Potefam1 |
A |
G |
2: 110,999,937 (GRCm39) |
|
probably null |
Het |
Pramel32 |
T |
A |
4: 88,547,102 (GRCm39) |
I106F |
probably damaging |
Het |
Prl3b1 |
A |
T |
13: 27,427,875 (GRCm39) |
M62L |
probably benign |
Het |
Ptpn13 |
G |
T |
5: 103,698,919 (GRCm39) |
R1134L |
probably damaging |
Het |
Rpl37 |
T |
A |
15: 5,147,990 (GRCm39) |
|
probably null |
Het |
Samd4 |
T |
A |
14: 47,311,607 (GRCm39) |
|
probably null |
Het |
Sh3rf2 |
T |
C |
18: 42,286,130 (GRCm39) |
V541A |
probably benign |
Het |
Shcbp1 |
A |
G |
8: 4,799,380 (GRCm39) |
V335A |
probably damaging |
Het |
Slc7a7 |
T |
C |
14: 54,612,057 (GRCm39) |
Y282C |
probably damaging |
Het |
Spag7 |
T |
C |
11: 70,555,418 (GRCm39) |
K125E |
possibly damaging |
Het |
Spata31e4 |
T |
C |
13: 50,855,972 (GRCm39) |
Y537H |
probably benign |
Het |
Sptan1 |
T |
C |
2: 29,910,467 (GRCm39) |
S1831P |
possibly damaging |
Het |
Stab1 |
T |
C |
14: 30,863,395 (GRCm39) |
K2097R |
probably benign |
Het |
Stk38 |
A |
G |
17: 29,193,338 (GRCm39) |
W364R |
probably benign |
Het |
Tectb |
G |
A |
19: 55,170,350 (GRCm39) |
G67D |
probably damaging |
Het |
Ttll9 |
G |
T |
2: 152,833,525 (GRCm39) |
D208Y |
probably damaging |
Het |
Tyro3 |
G |
A |
2: 119,647,156 (GRCm39) |
D758N |
probably damaging |
Het |
Unc5b |
C |
T |
10: 60,614,091 (GRCm39) |
A253T |
probably benign |
Het |
Wtap |
A |
T |
17: 13,186,945 (GRCm39) |
|
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 |
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'- ACTGCTGTGAGTGACAACGAG -3'
(R):5'- TGTCTTCCAGAGAGGGATCC -3'
Sequencing Primer
(F):5'- AGATTGAGCAAAGGGGTTCATTTTTC -3'
(R):5'- GGATCCTCAAGTCAGACTGTG -3'
|
Posted On |
2018-04-27 |