Incidental Mutation 'IGL01915:Tyw5'
ID |
179897 |
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 # |
IGL01915
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
57427394-57445833 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57440628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 45
(T45A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027114]
[ENSMUST00000079998]
[ENSMUST00000160118]
[ENSMUST00000160837]
[ENSMUST00000162686]
|
AlphaFold |
A2RSX7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027114
|
SMART Domains |
Protein: ENSMUSP00000027114 Gene: ENSMUSG00000025971
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
Blast:Tim44
|
131 |
210 |
3e-11 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079998
AA Change: T45A
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000078912 Gene: ENSMUSG00000048495 AA Change: T45A
Domain | Start | End | E-Value | Type |
PDB:3AL6|D
|
1 |
71 |
3e-39 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097732
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160118
AA Change: T45A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125386 Gene: ENSMUSG00000048495 AA Change: T45A
Domain | Start | End | E-Value | Type |
PDB:3AL6|D
|
1 |
71 |
1e-38 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160837
AA Change: T39A
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128576 Gene: ENSMUSG00000048495 AA Change: T39A
Domain | Start | End | E-Value | Type |
JmjC
|
103 |
255 |
2.25e-2 |
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 |
possibly damaging
Transcript: ENSMUST00000162686
AA Change: T45A
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125427 Gene: ENSMUSG00000048495 AA Change: T45A
Domain | Start | End | E-Value | Type |
JmjC
|
105 |
265 |
5.8e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163039
|
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 |
Abt1 |
T |
C |
13: 23,607,938 (GRCm39) |
E22G |
unknown |
Het |
Aoc1l2 |
T |
A |
6: 48,908,582 (GRCm39) |
D527E |
probably damaging |
Het |
Atp11b |
T |
G |
3: 35,885,612 (GRCm39) |
H668Q |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,938,715 (GRCm39) |
V2687D |
probably benign |
Het |
Cadm3 |
T |
C |
1: 173,168,675 (GRCm39) |
T298A |
possibly damaging |
Het |
Car12 |
G |
A |
9: 66,670,552 (GRCm39) |
A174T |
possibly damaging |
Het |
Ccdc180 |
T |
C |
4: 45,904,544 (GRCm39) |
L380P |
probably damaging |
Het |
Col7a1 |
A |
T |
9: 108,784,813 (GRCm39) |
R214W |
unknown |
Het |
Cyp2d26 |
T |
G |
15: 82,674,450 (GRCm39) |
R477S |
probably benign |
Het |
Dgkd |
T |
C |
1: 87,853,780 (GRCm39) |
V541A |
possibly damaging |
Het |
Dip2b |
T |
A |
15: 100,076,392 (GRCm39) |
F797I |
probably damaging |
Het |
Dot1l |
A |
T |
10: 80,616,728 (GRCm39) |
N63I |
probably damaging |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Ints5 |
T |
C |
19: 8,874,357 (GRCm39) |
I772T |
probably benign |
Het |
Nosip |
T |
A |
7: 44,726,283 (GRCm39) |
I230N |
probably damaging |
Het |
Or2r3 |
A |
T |
6: 42,448,223 (GRCm39) |
D296E |
probably benign |
Het |
Or4d11 |
A |
T |
19: 12,013,461 (GRCm39) |
L215Q |
probably damaging |
Het |
Or5ac22 |
T |
A |
16: 59,135,473 (GRCm39) |
Q99L |
probably damaging |
Het |
Or6c210 |
G |
A |
10: 129,496,519 (GRCm39) |
M281I |
probably benign |
Het |
Orc5 |
A |
T |
5: 22,727,381 (GRCm39) |
|
probably benign |
Het |
Parp1 |
A |
G |
1: 180,425,907 (GRCm39) |
I879M |
probably damaging |
Het |
Pcdh18 |
A |
G |
3: 49,699,370 (GRCm39) |
S1031P |
probably benign |
Het |
Pdzd2 |
A |
G |
15: 12,371,725 (GRCm39) |
S2557P |
probably damaging |
Het |
Rccd1 |
T |
C |
7: 79,969,966 (GRCm39) |
|
probably benign |
Het |
Rsad1 |
A |
G |
11: 94,439,803 (GRCm39) |
|
probably null |
Het |
Samd9l |
A |
T |
6: 3,373,864 (GRCm39) |
C1132* |
probably null |
Het |
Sema6d |
A |
G |
2: 124,500,491 (GRCm39) |
|
probably benign |
Het |
Slc10a5 |
T |
C |
3: 10,400,580 (GRCm39) |
N27D |
probably damaging |
Het |
Slco1a5 |
C |
T |
6: 142,189,599 (GRCm39) |
M462I |
probably benign |
Het |
Usp21 |
T |
A |
1: 171,110,307 (GRCm39) |
Q489L |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r20 |
A |
G |
6: 123,370,924 (GRCm39) |
S519P |
possibly 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 |
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 |
2014-05-07 |