Incidental Mutation 'IGL02320:Tyw5'
| ID |
288215 |
| 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 # |
IGL02320
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
57427394-57445833 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 57435884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079998]
[ENSMUST00000160118]
[ENSMUST00000160837]
[ENSMUST00000162686]
|
| AlphaFold |
A2RSX7 |
| 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 null
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 |
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 |
probably null
Transcript: ENSMUST00000162686
|
| SMART Domains |
Protein: ENSMUSP00000125427
Gene: ENSMUSG00000048495
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
105 |
265 |
5.8e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,445,961 (GRCm39) |
S146P |
probably damaging |
Het |
| Ap1m2 |
A |
T |
9: 21,210,620 (GRCm39) |
Y336* |
probably null |
Het |
| Arap1 |
T |
C |
7: 101,034,236 (GRCm39) |
L226P |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,614,753 (GRCm39) |
N1150Y |
probably damaging |
Het |
| Ccsap |
G |
T |
8: 124,569,177 (GRCm39) |
H221Q |
probably damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,895,865 (GRCm39) |
Y612N |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,523,303 (GRCm39) |
|
probably null |
Het |
| Ddx23 |
T |
C |
15: 98,548,819 (GRCm39) |
T328A |
possibly damaging |
Het |
| Depdc1a |
T |
A |
3: 159,222,570 (GRCm39) |
M252K |
probably damaging |
Het |
| Fpr2 |
A |
C |
17: 18,113,608 (GRCm39) |
R201S |
probably benign |
Het |
| Ighv1-20 |
A |
G |
12: 114,687,463 (GRCm39) |
S94P |
probably damaging |
Het |
| Itgb7 |
A |
C |
15: 102,132,772 (GRCm39) |
V180G |
probably benign |
Het |
| Mmp13 |
G |
T |
9: 7,278,941 (GRCm39) |
R344L |
probably benign |
Het |
| Mucl3 |
A |
T |
17: 35,948,332 (GRCm39) |
N422K |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,231,725 (GRCm39) |
S63L |
probably damaging |
Het |
| Or5p52 |
C |
T |
7: 107,502,038 (GRCm39) |
T38I |
possibly damaging |
Het |
| Pde9a |
G |
A |
17: 31,678,059 (GRCm39) |
C187Y |
probably damaging |
Het |
| Sh2b1 |
A |
G |
7: 126,068,341 (GRCm39) |
L490P |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,974,681 (GRCm39) |
T1193A |
probably damaging |
Het |
| Shisa2 |
T |
A |
14: 59,867,246 (GRCm39) |
M166K |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,744,088 (GRCm39) |
S40T |
possibly damaging |
Het |
| Spef2 |
A |
C |
15: 9,717,662 (GRCm39) |
S285A |
probably damaging |
Het |
| Tlcd3a |
A |
G |
11: 76,096,231 (GRCm39) |
M120V |
probably damaging |
Het |
| Trgv7 |
C |
A |
13: 19,362,249 (GRCm39) |
P13Q |
unknown |
Het |
| Ttn |
A |
G |
2: 76,769,656 (GRCm39) |
|
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,971,346 (GRCm39) |
V212A |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,180 (GRCm39) |
S40P |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 48,316,882 (GRCm39) |
|
probably null |
Het |
| Zbed6 |
T |
C |
1: 133,585,411 (GRCm39) |
N642S |
probably damaging |
Het |
| Zfp423 |
A |
T |
8: 88,508,230 (GRCm39) |
C580S |
probably damaging |
Het |
| Zfp64 |
A |
G |
2: 168,768,118 (GRCm39) |
V498A |
probably damaging |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation