Incidental Mutation 'R9204:Tyw1'
ID |
698372 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tyw1
|
Ensembl Gene |
ENSMUSG00000056310 |
Gene Name |
tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) |
Synonyms |
Rsafd1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9204 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
130284460-130370404 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 130298065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 202
(R202Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037173
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040213]
[ENSMUST00000044204]
[ENSMUST00000100662]
[ENSMUST00000147619]
|
AlphaFold |
Q8BJM7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040213
AA Change: R202Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000037173 Gene: ENSMUSG00000056310 AA Change: R202Q
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
Pfam:Flavodoxin_1
|
73 |
224 |
1.6e-27 |
PFAM |
low complexity region
|
276 |
288 |
N/A |
INTRINSIC |
Pfam:Radical_SAM
|
399 |
581 |
1.1e-29 |
PFAM |
Pfam:Wyosine_form
|
583 |
646 |
3.6e-29 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044204
AA Change: R202Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047318 Gene: ENSMUSG00000056310 AA Change: R202Q
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
Pfam:Flavodoxin_1
|
73 |
224 |
1.5e-27 |
PFAM |
low complexity region
|
276 |
288 |
N/A |
INTRINSIC |
transmembrane domain
|
375 |
397 |
N/A |
INTRINSIC |
transmembrane domain
|
423 |
445 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100662
AA Change: R202Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000098226 Gene: ENSMUSG00000056310 AA Change: R202Q
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
Pfam:Flavodoxin_1
|
73 |
224 |
4.9e-28 |
PFAM |
low complexity region
|
276 |
288 |
N/A |
INTRINSIC |
low complexity region
|
319 |
332 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000147619
AA Change: R179Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123693 Gene: ENSMUSG00000056310 AA Change: R179Q
Domain | Start | End | E-Value | Type |
Pfam:Flavodoxin_1
|
50 |
201 |
4.3e-28 |
PFAM |
|
Meta Mutation Damage Score |
0.3244 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (52/52) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Wybutosine (yW) is a hypermodified guanosine found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
T |
C |
8: 60,996,566 (GRCm39) |
V389A |
possibly damaging |
Het |
Adgrl1 |
T |
C |
8: 84,660,519 (GRCm39) |
F792S |
probably benign |
Het |
Angptl2 |
A |
T |
2: 33,118,342 (GRCm39) |
I39F |
probably benign |
Het |
Aprt |
A |
G |
8: 123,303,355 (GRCm39) |
I29T |
probably damaging |
Het |
Arhgap21 |
A |
T |
2: 20,885,816 (GRCm39) |
S464T |
probably damaging |
Het |
Atic |
T |
C |
1: 71,603,636 (GRCm39) |
Y151H |
probably damaging |
Het |
BB014433 |
T |
C |
8: 15,092,623 (GRCm39) |
T77A |
unknown |
Het |
Boc |
C |
A |
16: 44,308,077 (GRCm39) |
C926F |
|
Het |
Brd10 |
A |
G |
19: 29,696,938 (GRCm39) |
S852P |
possibly damaging |
Het |
Cabin1 |
C |
T |
10: 75,530,550 (GRCm39) |
R1544Q |
probably benign |
Het |
Ccdc33 |
A |
G |
9: 57,938,388 (GRCm39) |
V861A |
probably benign |
Het |
Ccdc88c |
T |
C |
12: 100,904,322 (GRCm39) |
T230A |
unknown |
Het |
Cdc42bpa |
T |
A |
1: 179,939,460 (GRCm39) |
|
probably null |
Het |
Chrnb2 |
T |
C |
3: 89,668,128 (GRCm39) |
M396V |
probably benign |
Het |
Chst2 |
A |
G |
9: 95,287,155 (GRCm39) |
V397A |
probably damaging |
Het |
Cit |
T |
A |
5: 116,126,498 (GRCm39) |
N1643K |
probably damaging |
Het |
Ckb |
T |
A |
12: 111,637,869 (GRCm39) |
D113V |
probably benign |
Het |
Cyp2c68 |
A |
T |
19: 39,727,571 (GRCm39) |
M136K |
probably damaging |
Het |
Epas1 |
G |
T |
17: 87,116,873 (GRCm39) |
R181L |
probably damaging |
Het |
Flnc |
A |
C |
6: 29,452,353 (GRCm39) |
I1726L |
possibly damaging |
Het |
Fras1 |
G |
A |
5: 96,883,022 (GRCm39) |
R2518H |
probably damaging |
Het |
Gid4 |
T |
C |
11: 60,308,654 (GRCm39) |
V58A |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,610,262 (GRCm39) |
N1469I |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,278,377 (GRCm39) |
E1693G |
probably damaging |
Het |
Irx4 |
C |
G |
13: 73,416,649 (GRCm39) |
C348W |
probably damaging |
Het |
Lrig2 |
A |
G |
3: 104,387,438 (GRCm39) |
S410P |
possibly damaging |
Het |
Lsm11 |
A |
G |
11: 45,824,789 (GRCm39) |
V246A |
probably benign |
Het |
Ltbp1 |
G |
T |
17: 75,670,425 (GRCm39) |
V1489F |
probably damaging |
Het |
Mc2r |
T |
C |
18: 68,540,667 (GRCm39) |
T209A |
probably benign |
Het |
Mms22l |
T |
C |
4: 24,581,153 (GRCm39) |
L821P |
probably damaging |
Het |
Mtus2 |
A |
T |
5: 148,238,293 (GRCm39) |
E1206V |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,410,129 (GRCm39) |
H1234Q |
unknown |
Het |
Naip5 |
A |
T |
13: 100,359,008 (GRCm39) |
F743I |
probably damaging |
Het |
Nphp3 |
G |
A |
9: 103,919,305 (GRCm39) |
V1318I |
probably benign |
Het |
Or4c10b |
T |
G |
2: 89,711,482 (GRCm39) |
L104W |
probably damaging |
Het |
Or52a24 |
A |
G |
7: 103,382,056 (GRCm39) |
K308E |
possibly damaging |
Het |
Or5p60 |
A |
T |
7: 107,723,935 (GRCm39) |
N178K |
possibly damaging |
Het |
Or7g26 |
T |
C |
9: 19,229,995 (GRCm39) |
L61P |
probably damaging |
Het |
Or8b4 |
C |
A |
9: 37,830,670 (GRCm39) |
T239K |
probably damaging |
Het |
Or9k2b |
G |
C |
10: 130,016,566 (GRCm39) |
P61R |
probably damaging |
Het |
Paqr5 |
G |
A |
9: 61,868,826 (GRCm39) |
R246C |
probably benign |
Het |
Pdgfb |
T |
C |
15: 79,885,956 (GRCm39) |
Q128R |
probably damaging |
Het |
Prr3 |
T |
A |
17: 36,285,619 (GRCm39) |
I88F |
possibly damaging |
Het |
Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
R3hcc1l |
G |
A |
19: 42,552,301 (GRCm39) |
D433N |
probably benign |
Het |
Scnn1b |
A |
T |
7: 121,498,522 (GRCm39) |
T21S |
probably benign |
Het |
Smcr8 |
A |
G |
11: 60,668,857 (GRCm39) |
I2V |
probably damaging |
Het |
Stk33 |
T |
C |
7: 108,940,686 (GRCm39) |
D8G |
probably benign |
Het |
Tbc1d22a |
T |
C |
15: 86,098,803 (GRCm39) |
F10L |
probably benign |
Het |
Tmem126a |
T |
A |
7: 90,102,026 (GRCm39) |
I58F |
possibly damaging |
Het |
Ttf2 |
T |
C |
3: 100,869,880 (GRCm39) |
K398E |
probably benign |
Het |
Usp53 |
G |
T |
3: 122,741,068 (GRCm39) |
N727K |
probably benign |
Het |
Vmn2r25 |
T |
G |
6: 123,830,092 (GRCm39) |
I20L |
probably benign |
Het |
Zfp747l1 |
T |
A |
7: 126,984,332 (GRCm39) |
I257L |
unknown |
Het |
|
Other mutations in Tyw1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02329:Tyw1
|
APN |
5 |
130,295,921 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02873:Tyw1
|
APN |
5 |
130,364,171 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02879:Tyw1
|
APN |
5 |
130,325,612 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03080:Tyw1
|
APN |
5 |
130,295,896 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03291:Tyw1
|
APN |
5 |
130,328,834 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03297:Tyw1
|
APN |
5 |
130,369,575 (GRCm39) |
missense |
probably damaging |
1.00 |
remnant
|
UTSW |
5 |
130,291,762 (GRCm39) |
missense |
probably damaging |
0.99 |
schimmel
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
tyrone
|
UTSW |
5 |
130,325,520 (GRCm39) |
nonsense |
probably null |
|
yang
|
UTSW |
5 |
130,287,876 (GRCm39) |
missense |
probably damaging |
0.98 |
R1420:Tyw1
|
UTSW |
5 |
130,303,586 (GRCm39) |
critical splice donor site |
probably null |
|
R1650:Tyw1
|
UTSW |
5 |
130,317,752 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1674:Tyw1
|
UTSW |
5 |
130,298,169 (GRCm39) |
missense |
probably benign |
0.01 |
R1789:Tyw1
|
UTSW |
5 |
130,287,834 (GRCm39) |
missense |
probably damaging |
0.99 |
R1996:Tyw1
|
UTSW |
5 |
130,291,652 (GRCm39) |
splice site |
probably benign |
|
R2421:Tyw1
|
UTSW |
5 |
130,298,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R3913:Tyw1
|
UTSW |
5 |
130,287,876 (GRCm39) |
missense |
probably damaging |
0.98 |
R4412:Tyw1
|
UTSW |
5 |
130,364,073 (GRCm39) |
splice site |
probably null |
|
R4835:Tyw1
|
UTSW |
5 |
130,305,899 (GRCm39) |
missense |
probably benign |
|
R5058:Tyw1
|
UTSW |
5 |
130,305,927 (GRCm39) |
missense |
probably benign |
0.03 |
R5190:Tyw1
|
UTSW |
5 |
130,296,756 (GRCm39) |
nonsense |
probably null |
|
R5398:Tyw1
|
UTSW |
5 |
130,305,998 (GRCm39) |
intron |
probably benign |
|
R5459:Tyw1
|
UTSW |
5 |
130,303,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R5597:Tyw1
|
UTSW |
5 |
130,303,498 (GRCm39) |
missense |
probably benign |
0.00 |
R5704:Tyw1
|
UTSW |
5 |
130,310,863 (GRCm39) |
nonsense |
probably null |
|
R5825:Tyw1
|
UTSW |
5 |
130,296,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R5887:Tyw1
|
UTSW |
5 |
130,354,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R6072:Tyw1
|
UTSW |
5 |
130,296,752 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6349:Tyw1
|
UTSW |
5 |
130,305,872 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6366:Tyw1
|
UTSW |
5 |
130,310,792 (GRCm39) |
unclassified |
probably benign |
|
R7012:Tyw1
|
UTSW |
5 |
130,306,571 (GRCm39) |
splice site |
probably null |
|
R7259:Tyw1
|
UTSW |
5 |
130,296,713 (GRCm39) |
splice site |
probably null |
|
R7328:Tyw1
|
UTSW |
5 |
130,291,685 (GRCm39) |
missense |
probably benign |
0.08 |
R7555:Tyw1
|
UTSW |
5 |
130,303,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R8006:Tyw1
|
UTSW |
5 |
130,296,913 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8171:Tyw1
|
UTSW |
5 |
130,328,855 (GRCm39) |
missense |
probably benign |
0.19 |
R8196:Tyw1
|
UTSW |
5 |
130,328,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R8714:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R8715:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R8716:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R8970:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R8992:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9117:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9119:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9120:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9172:Tyw1
|
UTSW |
5 |
130,325,520 (GRCm39) |
nonsense |
probably null |
|
R9205:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9207:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9325:Tyw1
|
UTSW |
5 |
130,291,762 (GRCm39) |
missense |
probably damaging |
0.99 |
R9364:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9368:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9369:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9470:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9471:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9566:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9567:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCCCTGGGTTTCTGCAGTG -3'
(R):5'- CAGGATGCAATTCGCCTTG -3'
Sequencing Primer
(F):5'- CTGGAAGCCTGCTTTAGAGGAC -3'
(R):5'- CGCCTCTCCTGGGCCATG -3'
|
Posted On |
2022-02-07 |