Incidental Mutation 'R2997:Tyw5'
| ID |
257192 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2997 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
57427394-57445833 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57427800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 268
(D268G)
|
| 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 damaging
Transcript: ENSMUST00000162686
AA Change: D268G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125427
Gene: ENSMUSG00000048495
AA Change: D268G
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
105 |
265 |
5.8e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163039
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
A |
T |
3: 148,523,285 (GRCm39) |
V82E |
probably damaging |
Het |
| Ahcyl |
G |
A |
16: 45,974,288 (GRCm39) |
T363I |
possibly damaging |
Het |
| Arid5b |
C |
T |
10: 67,934,292 (GRCm39) |
G294S |
probably benign |
Het |
| Arl6 |
A |
T |
16: 59,444,239 (GRCm39) |
|
probably null |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Elp4 |
A |
G |
2: 105,644,661 (GRCm39) |
F228L |
possibly damaging |
Het |
| Fndc3b |
A |
C |
3: 27,523,021 (GRCm39) |
D519E |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,230,635 (GRCm39) |
I430F |
probably benign |
Het |
| Lgr4 |
A |
T |
2: 109,833,862 (GRCm39) |
E369D |
probably benign |
Het |
| Lrguk |
T |
A |
6: 34,050,697 (GRCm39) |
V385D |
probably damaging |
Het |
| Mier1 |
T |
A |
4: 102,988,233 (GRCm39) |
D52E |
probably damaging |
Het |
| Mthfd1 |
G |
T |
12: 76,361,810 (GRCm39) |
V139F |
probably benign |
Het |
| Myg1 |
G |
T |
15: 102,245,945 (GRCm39) |
R315L |
probably null |
Het |
| Pcare |
ACTGCTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
17: 72,051,706 (GRCm39) |
|
probably benign |
Het |
| Tchh |
CACGCGAGGAACGCGAGGAAC |
CACGCGAGGAAC |
3: 93,355,057 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,716,350 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCCCGTTAAGCATTTTCAATC -3'
(R):5'- ACAGACTGCCTTTATGCAACTTG -3'
Sequencing Primer
(F):5'- CCCGTTAAGCATTTTCAATCTATACC -3'
(R):5'- GCCTTTATGCAACTTGTGATATTTC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation