Incidental Mutation 'IGL02329:Tyw1'
| ID |
288617 |
| 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 # |
IGL02329
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
130284460-130370404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 130295921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 116
(G116V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040213]
[ENSMUST00000044204]
[ENSMUST00000100662]
[ENSMUST00000147619]
|
| AlphaFold |
Q8BJM7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040213
AA Change: G116V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000037173
Gene: ENSMUSG00000056310
AA Change: G116V
| 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 benign
Transcript: ENSMUST00000044204
AA Change: G116V
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000047318
Gene: ENSMUSG00000056310
AA Change: G116V
| 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: G116V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000098226
Gene: ENSMUSG00000056310
AA Change: G116V
| 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 |
probably benign
Transcript: ENSMUST00000147619
AA Change: G93V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000123693
Gene: ENSMUSG00000056310
AA Change: G93V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Flavodoxin_1
|
50 |
201 |
4.3e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173375
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
T |
C |
19: 6,299,959 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
T |
C |
2: 143,704,566 (GRCm39) |
T96A |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,601,239 (GRCm39) |
E322G |
possibly damaging |
Het |
| Cand2 |
T |
C |
6: 115,766,568 (GRCm39) |
V391A |
probably damaging |
Het |
| Ccdc169 |
A |
G |
3: 55,078,702 (GRCm39) |
M188V |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,968,987 (GRCm39) |
I1174V |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,822,316 (GRCm39) |
V10A |
possibly damaging |
Het |
| Cpt1b |
T |
C |
15: 89,307,942 (GRCm39) |
T206A |
probably benign |
Het |
| Dapk3 |
T |
C |
10: 81,025,999 (GRCm39) |
S97P |
probably benign |
Het |
| Drc3 |
T |
C |
11: 60,261,404 (GRCm39) |
L185P |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,042,923 (GRCm39) |
|
probably null |
Het |
| Erbb3 |
T |
A |
10: 128,409,088 (GRCm39) |
I742F |
probably damaging |
Het |
| Fktn |
A |
G |
4: 53,720,181 (GRCm39) |
Y65C |
probably benign |
Het |
| Fstl5 |
G |
A |
3: 76,496,302 (GRCm39) |
G355D |
probably damaging |
Het |
| Grm8 |
A |
T |
6: 27,363,115 (GRCm39) |
I800N |
probably damaging |
Het |
| Gss |
C |
T |
2: 155,409,773 (GRCm39) |
R221H |
probably benign |
Het |
| H2-M10.4 |
A |
T |
17: 36,771,359 (GRCm39) |
V273D |
probably damaging |
Het |
| Large1 |
C |
A |
8: 73,774,945 (GRCm39) |
W255L |
possibly damaging |
Het |
| Meig1 |
T |
C |
2: 3,410,288 (GRCm39) |
K71E |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,619,396 (GRCm39) |
N1760D |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,166,781 (GRCm39) |
N24K |
probably damaging |
Het |
| Nphp3 |
A |
C |
9: 103,903,167 (GRCm39) |
S715R |
probably benign |
Het |
| Papolg |
T |
G |
11: 23,841,869 (GRCm39) |
H18P |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,308,098 (GRCm39) |
H667R |
possibly damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,249,943 (GRCm39) |
S103P |
probably damaging |
Het |
| Snx21 |
T |
C |
2: 164,634,310 (GRCm39) |
|
probably benign |
Het |
| Spmip3 |
A |
T |
1: 177,570,867 (GRCm39) |
Q67L |
probably benign |
Het |
| Tiam1 |
G |
T |
16: 89,596,924 (GRCm39) |
H301N |
probably benign |
Het |
| Trcg1 |
A |
T |
9: 57,147,676 (GRCm39) |
I11F |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,831,581 (GRCm39) |
K1482R |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,474,224 (GRCm39) |
C343R |
possibly damaging |
Het |
|
| Other mutations in Tyw1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation