Incidental Mutation 'IGL01675:Tyw5'
| ID |
103617 |
| 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: 0.115)
|
| Stock # |
IGL01675
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
57427394-57445833 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 57427791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 271
(A271V)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000162686
AA Change: A271V
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125427
Gene: ENSMUSG00000048495
AA Change: A271V
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
105 |
265 |
5.8e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162663
|
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cadps2 |
G |
T |
6: 23,382,904 (GRCm39) |
L790I |
probably damaging |
Het |
| Hecw1 |
C |
T |
13: 14,409,007 (GRCm39) |
R1100Q |
probably damaging |
Het |
| Itga7 |
T |
C |
10: 128,782,724 (GRCm39) |
L691P |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,019,901 (GRCm39) |
D382G |
probably benign |
Het |
| Kcnh5 |
A |
T |
12: 75,161,274 (GRCm39) |
C211* |
probably null |
Het |
| Lama2 |
T |
C |
10: 27,064,050 (GRCm39) |
T1276A |
possibly damaging |
Het |
| Magea10 |
A |
G |
X: 71,426,721 (GRCm39) |
V91A |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,569,111 (GRCm39) |
T1143A |
probably benign |
Het |
| Pira13 |
A |
C |
7: 3,825,607 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,089,539 (GRCm39) |
Q763R |
probably damaging |
Het |
| Slirp |
G |
A |
12: 87,490,787 (GRCm39) |
A24T |
probably damaging |
Het |
| Tlr6 |
A |
T |
5: 65,111,842 (GRCm39) |
I355N |
probably damaging |
Het |
| Vav3 |
G |
A |
3: 109,571,729 (GRCm39) |
G217D |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,596,587 (GRCm39) |
I156T |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,645,856 (GRCm39) |
N62D |
probably benign |
Het |
|
| Other mutations in Tyw5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01303:Tyw5
|
APN |
1 |
57,427,712 (GRCm39) |
nonsense |
probably null |
|
|
IGL01565:Tyw5
|
APN |
1 |
57,433,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-01-21 |
Incidental Mutation