Incidental Mutation 'IGL01303:Tyw5'
| ID |
73333 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tyw5
|
| Ensembl Gene |
ENSMUSG00000048495 |
| Gene Name |
tRNA-yW synthesizing protein 5 |
| Synonyms |
1110034B05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
IGL01303
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
57427394-57445833 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 57427712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 297
(Y297*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042734]
[ENSMUST00000079998]
[ENSMUST00000160118]
[ENSMUST00000160837]
[ENSMUST00000162686]
|
| AlphaFold |
A2RSX7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042734
|
| SMART Domains |
Protein: ENSMUSP00000040240
Gene: ENSMUSG00000038323
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:UPF0565
|
52 |
341 |
2.8e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079998
|
| SMART Domains |
Protein: ENSMUSP00000078912
Gene: ENSMUSG00000048495
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3AL6|D
|
1 |
71 |
3e-39 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097732
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160118
|
| SMART Domains |
Protein: ENSMUSP00000125386
Gene: ENSMUSG00000048495
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3AL6|D
|
1 |
71 |
1e-38 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160837
|
| SMART Domains |
Protein: ENSMUSP00000128576
Gene: ENSMUSG00000048495
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
103 |
255 |
2.25e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161727
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162686
AA Change: Y297*
|
| SMART Domains |
Protein: ENSMUSP00000125427
Gene: ENSMUSG00000048495
AA Change: Y297*
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
105 |
265 |
5.8e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161780
|
| SMART Domains |
Protein: ENSMUSP00000125487
Gene: ENSMUSG00000048495
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3AL6|D
|
1 |
71 |
3e-39 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162663
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
C |
9: 90,053,787 (GRCm39) |
I111L |
possibly damaging |
Het |
| Ankrd13a |
A |
T |
5: 114,924,063 (GRCm39) |
H53L |
possibly damaging |
Het |
| Becn1 |
T |
C |
11: 101,185,811 (GRCm39) |
D145G |
possibly damaging |
Het |
| Bod1l |
A |
G |
5: 41,974,942 (GRCm39) |
V2124A |
probably benign |
Het |
| Cdcp3 |
A |
G |
7: 130,796,060 (GRCm39) |
T72A |
possibly damaging |
Het |
| Celsr1 |
C |
T |
15: 85,914,692 (GRCm39) |
A1094T |
probably damaging |
Het |
| Clstn2 |
A |
T |
9: 97,365,128 (GRCm39) |
Y459* |
probably null |
Het |
| Cnksr3 |
A |
G |
10: 7,104,281 (GRCm39) |
|
probably null |
Het |
| Cux2 |
A |
T |
5: 122,003,991 (GRCm39) |
F1048L |
probably benign |
Het |
| Cybrd1 |
A |
G |
2: 70,960,050 (GRCm39) |
K83E |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,962,294 (GRCm39) |
|
probably benign |
Het |
| Eef2 |
T |
A |
10: 81,017,777 (GRCm39) |
V813E |
possibly damaging |
Het |
| Eef2 |
A |
T |
10: 81,017,816 (GRCm39) |
|
probably null |
Het |
| Etnk1 |
T |
G |
6: 143,126,392 (GRCm39) |
I79S |
probably damaging |
Het |
| Fam151a |
A |
G |
4: 106,604,790 (GRCm39) |
N384S |
possibly damaging |
Het |
| Fam83c |
A |
G |
2: 155,676,362 (GRCm39) |
L136P |
probably damaging |
Het |
| Gfra2 |
G |
A |
14: 71,133,292 (GRCm39) |
V41I |
probably benign |
Het |
| Mroh9 |
A |
G |
1: 162,908,144 (GRCm39) |
I2T |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,306,132 (GRCm39) |
I274V |
probably benign |
Het |
| Nacad |
T |
G |
11: 6,548,279 (GRCm39) |
E1456A |
possibly damaging |
Het |
| Npy4r |
T |
A |
14: 33,868,614 (GRCm39) |
I225F |
possibly damaging |
Het |
| Or3a1b |
T |
G |
11: 74,012,160 (GRCm39) |
F15C |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,973,038 (GRCm39) |
D719G |
possibly damaging |
Het |
| Pparg |
G |
T |
6: 115,449,915 (GRCm39) |
V305L |
possibly damaging |
Het |
| Rictor |
A |
G |
15: 6,738,119 (GRCm39) |
N19D |
probably benign |
Het |
| Slc4a1 |
T |
C |
11: 102,248,790 (GRCm39) |
T292A |
probably benign |
Het |
| Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,935,774 (GRCm39) |
|
probably benign |
Het |
| Tal1 |
T |
C |
4: 114,925,489 (GRCm39) |
V186A |
probably benign |
Het |
| Top6bl |
T |
C |
19: 4,709,510 (GRCm39) |
T318A |
possibly damaging |
Het |
| Trpm1 |
T |
A |
7: 63,860,578 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
C |
A |
12: 103,128,126 (GRCm39) |
Q2131K |
possibly damaging |
Het |
|
| Other mutations in Tyw5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01565:Tyw5
|
APN |
1 |
57,433,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01675:Tyw5
|
APN |
1 |
57,427,791 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01915:Tyw5
|
APN |
1 |
57,440,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02320:Tyw5
|
APN |
1 |
57,435,884 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02427:Tyw5
|
APN |
1 |
57,427,884 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
PIT4520001:Tyw5
|
UTSW |
1 |
57,427,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Tyw5
|
UTSW |
1 |
57,440,597 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0053:Tyw5
|
UTSW |
1 |
57,440,597 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2421:Tyw5
|
UTSW |
1 |
57,435,907 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2422:Tyw5
|
UTSW |
1 |
57,435,907 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2997:Tyw5
|
UTSW |
1 |
57,427,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3974:Tyw5
|
UTSW |
1 |
57,430,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4235:Tyw5
|
UTSW |
1 |
57,427,647 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4630:Tyw5
|
UTSW |
1 |
57,427,686 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5014:Tyw5
|
UTSW |
1 |
57,446,004 (GRCm39) |
start gained |
probably benign |
|
|
R5099:Tyw5
|
UTSW |
1 |
57,427,864 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5162:Tyw5
|
UTSW |
1 |
57,440,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6389:Tyw5
|
UTSW |
1 |
57,430,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6422:Tyw5
|
UTSW |
1 |
57,440,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6524:Tyw5
|
UTSW |
1 |
57,427,890 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6908:Tyw5
|
UTSW |
1 |
57,440,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7633:Tyw5
|
UTSW |
1 |
57,432,644 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7997:Tyw5
|
UTSW |
1 |
57,427,683 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9218:Tyw5
|
UTSW |
1 |
57,435,948 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0018:Tyw5
|
UTSW |
1 |
57,429,822 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation