Incidental Mutation 'R9207:Tyw1'
| ID |
698577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyw1
|
| Ensembl Gene |
ENSMUSG00000056310 |
| Gene Name |
tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) |
| Synonyms |
Rsafd1 |
| MMRRC Submission |
068981-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9207 (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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (43/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
G |
8: 60,979,657 (GRCm39) |
I173S |
probably damaging |
Het |
| Actrt2 |
T |
A |
4: 154,751,920 (GRCm39) |
H72L |
probably benign |
Het |
| Adgrf1 |
A |
G |
17: 43,621,164 (GRCm39) |
D467G |
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,215,616 (GRCm39) |
L226P |
|
Het |
| Begain |
T |
C |
12: 108,999,250 (GRCm39) |
D507G |
probably damaging |
Het |
| Bsdc1 |
A |
G |
4: 129,362,830 (GRCm39) |
N134S |
probably benign |
Het |
| Ccdc39 |
C |
A |
3: 33,886,706 (GRCm39) |
E301* |
probably null |
Het |
| Cdh23 |
A |
G |
10: 60,243,210 (GRCm39) |
V1055A |
probably damaging |
Het |
| Efcab8 |
A |
G |
2: 153,656,339 (GRCm39) |
D591G |
unknown |
Het |
| Fibcd1 |
G |
A |
2: 31,706,455 (GRCm39) |
R459C |
probably damaging |
Het |
| Frem3 |
T |
G |
8: 81,340,071 (GRCm39) |
V788G |
possibly damaging |
Het |
| Ftcd |
A |
T |
10: 76,422,973 (GRCm39) |
I423L |
probably benign |
Het |
| Gad1 |
G |
A |
2: 70,409,546 (GRCm39) |
|
probably null |
Het |
| Gm8229 |
T |
C |
14: 44,606,238 (GRCm39) |
L156P |
|
Het |
| Grm7 |
T |
C |
6: 111,335,874 (GRCm39) |
Y762H |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,433,496 (GRCm39) |
V937D |
possibly damaging |
Het |
| Ifnz |
T |
C |
4: 88,701,525 (GRCm39) |
V168A |
probably benign |
Het |
| Irx4 |
C |
G |
13: 73,416,649 (GRCm39) |
C348W |
probably damaging |
Het |
| Itgb4 |
G |
T |
11: 115,897,923 (GRCm39) |
G1603V |
probably damaging |
Het |
| Krt32 |
A |
G |
11: 99,977,580 (GRCm39) |
V162A |
possibly damaging |
Het |
| Mpped2 |
A |
G |
2: 106,697,319 (GRCm39) |
T265A |
probably benign |
Het |
| Npas3 |
T |
C |
12: 54,114,818 (GRCm39) |
L580P |
possibly damaging |
Het |
| Or4f47 |
G |
A |
2: 111,972,397 (GRCm39) |
V36M |
probably benign |
Het |
| Or5b109 |
A |
T |
19: 13,212,400 (GRCm39) |
Q262L |
possibly damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,960 (GRCm39) |
M136I |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,058,117 (GRCm39) |
L3940P |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,763,904 (GRCm39) |
Y283H |
probably damaging |
Het |
| Rad54l |
T |
C |
4: 115,967,215 (GRCm39) |
H281R |
probably damaging |
Het |
| Rftn2 |
T |
A |
1: 55,224,149 (GRCm39) |
Q397L |
probably damaging |
Het |
| Rnf166 |
C |
T |
8: 123,195,068 (GRCm39) |
A151T |
probably benign |
Het |
| Setdb1 |
A |
T |
3: 95,246,113 (GRCm39) |
I604N |
possibly damaging |
Het |
| Smr2 |
A |
G |
5: 88,256,726 (GRCm39) |
T135A |
unknown |
Het |
| Snai2 |
C |
A |
16: 14,524,946 (GRCm39) |
H151N |
possibly damaging |
Het |
| Spag6l |
A |
T |
16: 16,598,492 (GRCm39) |
I333N |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,039,139 (GRCm39) |
T1161A |
probably benign |
Het |
| Sult2a1 |
G |
T |
7: 13,566,627 (GRCm39) |
A116E |
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,634,626 (GRCm39) |
L236* |
probably null |
Het |
| Tchhl1 |
T |
A |
3: 93,377,819 (GRCm39) |
N174K |
possibly damaging |
Het |
| Tex15 |
T |
C |
8: 34,065,784 (GRCm39) |
L1738P |
probably damaging |
Het |
| Timp4 |
T |
C |
6: 115,224,270 (GRCm39) |
Y133C |
probably damaging |
Het |
| Tmem25 |
A |
G |
9: 44,710,476 (GRCm39) |
|
probably null |
Het |
| Tubd1 |
A |
T |
11: 86,456,537 (GRCm39) |
T399S |
probably benign |
Het |
| Zfp110 |
A |
T |
7: 12,582,485 (GRCm39) |
I378L |
probably benign |
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 |
|
|
R9204:Tyw1
|
UTSW |
5 |
130,298,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205: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'- CCTGGAAGCCTGCTTTAGAG -3'
(R):5'- ATCCCCAGGATGCAATTCGC -3'
Sequencing Primer
(F):5'- GCCTGCTTTAGAGGACAGATG -3'
(R):5'- CGCCTCTCCTGGGCCATG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation