Incidental Mutation 'IGL02873:Tyw1'
ID |
362595 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tyw1
|
Ensembl Gene |
ENSMUSG00000056310 |
Gene Name |
tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) |
Synonyms |
Rsafd1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02873
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
130284460-130370404 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 130364171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 621
(R621C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037173
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040213]
|
AlphaFold |
Q8BJM7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040213
AA Change: R621C
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000037173 Gene: ENSMUSG00000056310 AA Change: R621C
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 |
|
Coding Region Coverage |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405O20Rik |
A |
T |
7: 50,249,431 (GRCm39) |
H155L |
probably damaging |
Het |
5830462I19Rik |
G |
A |
9: 110,203,446 (GRCm39) |
|
probably benign |
Het |
Ankib1 |
T |
A |
5: 3,822,619 (GRCm39) |
Q29L |
probably damaging |
Het |
Arid5b |
A |
T |
10: 67,937,780 (GRCm39) |
M449K |
probably benign |
Het |
Atp1a1 |
A |
G |
3: 101,483,894 (GRCm39) |
V1017A |
probably benign |
Het |
Cfap52 |
G |
T |
11: 67,822,608 (GRCm39) |
T421K |
probably damaging |
Het |
Chd8 |
A |
T |
14: 52,459,970 (GRCm39) |
I780N |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,299,181 (GRCm39) |
D3164G |
probably benign |
Het |
Cyp4f37 |
A |
T |
17: 32,844,142 (GRCm39) |
Q82L |
probably benign |
Het |
Eml6 |
T |
A |
11: 29,830,700 (GRCm39) |
D265V |
probably benign |
Het |
Gm14393 |
T |
C |
2: 174,903,595 (GRCm39) |
D104G |
possibly damaging |
Het |
Gpat2 |
T |
C |
2: 127,273,675 (GRCm39) |
V271A |
probably benign |
Het |
Ifna4 |
T |
C |
4: 88,760,423 (GRCm39) |
F109S |
probably damaging |
Het |
Il27ra |
T |
C |
8: 84,758,164 (GRCm39) |
S529G |
probably benign |
Het |
Jag2 |
A |
G |
12: 112,874,122 (GRCm39) |
L1011P |
probably benign |
Het |
Kif7 |
A |
G |
7: 79,356,507 (GRCm39) |
L728P |
probably damaging |
Het |
Klhl21 |
T |
C |
4: 152,099,817 (GRCm39) |
V509A |
probably benign |
Het |
Map2k4 |
T |
A |
11: 65,610,400 (GRCm39) |
N92I |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,374,308 (GRCm39) |
D1288V |
probably damaging |
Het |
Or4k37 |
T |
C |
2: 111,159,217 (GRCm39) |
V151A |
probably benign |
Het |
Or5g25 |
C |
A |
2: 85,478,096 (GRCm39) |
A190S |
possibly damaging |
Het |
Paip1 |
T |
A |
13: 119,582,348 (GRCm39) |
F275L |
possibly damaging |
Het |
Plxnd1 |
T |
C |
6: 115,936,937 (GRCm39) |
D1624G |
probably damaging |
Het |
Ppwd1 |
C |
A |
13: 104,346,261 (GRCm39) |
D465Y |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,228,538 (GRCm39) |
L528P |
probably damaging |
Het |
Rftn1 |
A |
C |
17: 50,476,180 (GRCm39) |
|
probably benign |
Het |
Scn1b |
T |
A |
7: 30,817,182 (GRCm39) |
Y180F |
probably damaging |
Het |
Slc16a4 |
A |
G |
3: 107,208,111 (GRCm39) |
D207G |
probably benign |
Het |
Slc2a3 |
T |
C |
6: 122,717,373 (GRCm39) |
T28A |
probably damaging |
Het |
Slc47a1 |
G |
A |
11: 61,253,643 (GRCm39) |
|
probably benign |
Het |
Spata1 |
A |
T |
3: 146,193,122 (GRCm39) |
V123D |
possibly damaging |
Het |
Stard9 |
T |
C |
2: 120,544,288 (GRCm39) |
V4469A |
probably damaging |
Het |
Trmu |
T |
A |
15: 85,781,033 (GRCm39) |
|
probably null |
Het |
Trrap |
T |
A |
5: 144,777,889 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,726,475 (GRCm39) |
|
probably benign |
Het |
Tubgcp6 |
T |
C |
15: 88,988,027 (GRCm39) |
D974G |
probably benign |
Het |
Usp7 |
A |
T |
16: 8,513,058 (GRCm39) |
|
probably benign |
Het |
Zfp39 |
T |
C |
11: 58,781,848 (GRCm39) |
K305E |
probably benign |
Het |
Zfp692 |
C |
T |
11: 58,199,765 (GRCm39) |
T118M |
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 |
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 |
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 |
|
Posted On |
2015-12-18 |