Incidental Mutation 'R5099:Tyw5'
| ID |
388159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyw5
|
| Ensembl Gene |
ENSMUSG00000048495 |
| Gene Name |
tRNA-yW synthesizing protein 5 |
| Synonyms |
1110034B05Rik |
| MMRRC Submission |
042688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R5099 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
57427394-57445833 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57427864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 243
(N243D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128576
(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 damaging
Transcript: ENSMUST00000160837
AA Change: N243D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128576
Gene: ENSMUSG00000048495
AA Change: N243D
| 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: ENSMUST00000162663
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162686
AA Change: N247D
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125427
Gene: ENSMUSG00000048495
AA Change: N247D
| 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
|
| Meta Mutation Damage Score |
0.6434 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsa |
A |
G |
15: 89,359,542 (GRCm39) |
L80P |
probably damaging |
Het |
| Bdkrb1 |
A |
G |
12: 105,570,533 (GRCm39) |
D33G |
probably benign |
Het |
| Ccdc178 |
A |
T |
18: 22,238,648 (GRCm39) |
V323E |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,479,513 (GRCm39) |
V210A |
probably damaging |
Het |
| Dcdc2a |
A |
G |
13: 25,291,681 (GRCm39) |
E222G |
probably benign |
Het |
| Gbp9 |
A |
T |
5: 105,242,379 (GRCm39) |
L120Q |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gsr |
T |
A |
8: 34,161,556 (GRCm39) |
I121N |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,309,674 (GRCm39) |
M1068K |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,701,173 (GRCm39) |
I414T |
probably benign |
Het |
| Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
| Mecom |
A |
G |
3: 30,039,465 (GRCm39) |
|
probably benign |
Het |
| Mff |
C |
T |
1: 82,728,192 (GRCm39) |
|
probably benign |
Het |
| Ms4a20 |
T |
C |
19: 11,089,825 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
T |
2: 52,085,460 (GRCm39) |
C1545Y |
probably damaging |
Het |
| Or5ac24 |
C |
T |
16: 59,165,266 (GRCm39) |
G266D |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,809 (GRCm39) |
H6R |
probably benign |
Het |
| Or8k36-ps1 |
A |
T |
2: 86,437,560 (GRCm39) |
N118K |
unknown |
Het |
| Ppm1n |
A |
T |
7: 19,011,903 (GRCm39) |
L392Q |
possibly damaging |
Het |
| Prr22 |
T |
C |
17: 57,078,467 (GRCm39) |
F207L |
probably benign |
Het |
| Ptprv |
T |
C |
1: 135,046,592 (GRCm39) |
|
noncoding transcript |
Het |
| Rin2 |
G |
A |
2: 145,720,821 (GRCm39) |
C718Y |
probably damaging |
Het |
| Rpgrip1l |
G |
A |
8: 91,975,350 (GRCm39) |
T1089I |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,108,145 (GRCm39) |
V1510A |
probably damaging |
Het |
| Slfn3 |
A |
T |
11: 83,105,764 (GRCm39) |
Y587F |
probably damaging |
Het |
| Sp2 |
T |
C |
11: 96,852,175 (GRCm39) |
K250E |
probably damaging |
Het |
| Ssu2 |
A |
G |
6: 112,336,585 (GRCm39) |
S333P |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,493,030 (GRCm39) |
T419A |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,744 (GRCm39) |
M203K |
probably benign |
Het |
| Tmem176b |
T |
C |
6: 48,811,463 (GRCm39) |
Y62C |
probably benign |
Het |
| Tox |
G |
T |
4: 6,688,958 (GRCm39) |
Q469K |
probably benign |
Het |
| Trgv5 |
G |
T |
13: 19,376,886 (GRCm39) |
C111F |
probably damaging |
Het |
| Ube2q2 |
T |
A |
9: 55,113,307 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
C |
T |
4: 25,275,914 (GRCm39) |
R83Q |
probably damaging |
Het |
| Unk |
A |
G |
11: 115,949,936 (GRCm39) |
Q701R |
probably benign |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,816 (GRCm39) |
C95S |
probably damaging |
Het |
| Vmn1r81 |
A |
G |
7: 11,994,248 (GRCm39) |
I120T |
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 |
|
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 |
|
|
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'- AATACGTAAGACCATTTGGCGTG -3'
(R):5'- TGCTCCTGACACTGAGCTAG -3'
Sequencing Primer
(F):5'- ACCATTTGGCGTGCATAGAAGTC -3'
(R):5'- TGACACTGAGCTAGCTGGCAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation