Incidental Mutation 'R9471:Tyw1'
ID |
715456 |
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 # |
R9471 (G1)
|
Quality Score |
225.009 |
Status
|
Not 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: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6b |
A |
G |
5: 137,565,319 (GRCm39) |
K368E |
probably damaging |
Het |
Adgrl2 |
T |
C |
3: 148,558,365 (GRCm39) |
T448A |
probably benign |
Het |
Aff4 |
C |
T |
11: 53,271,473 (GRCm39) |
P337S |
probably benign |
Het |
Alg12 |
G |
A |
15: 88,690,621 (GRCm39) |
Q406* |
probably null |
Het |
Anapc5 |
T |
C |
5: 122,944,308 (GRCm39) |
Y302C |
probably damaging |
Het |
Apol7a |
A |
G |
15: 77,273,680 (GRCm39) |
S261P |
possibly damaging |
Het |
Atad5 |
G |
T |
11: 80,023,524 (GRCm39) |
K1545N |
possibly damaging |
Het |
Atp6v1f |
T |
A |
6: 29,467,941 (GRCm39) |
D42E |
probably benign |
Het |
Bcl6 |
T |
A |
16: 23,791,857 (GRCm39) |
N166Y |
probably benign |
Het |
Btbd7 |
C |
T |
12: 102,760,145 (GRCm39) |
R601Q |
probably damaging |
Het |
Casp1 |
A |
G |
9: 5,304,187 (GRCm39) |
E287G |
probably benign |
Het |
Cd300c |
A |
T |
11: 114,847,216 (GRCm39) |
V193E |
probably damaging |
Het |
Cd300lg |
T |
A |
11: 101,944,920 (GRCm39) |
S377T |
probably benign |
Het |
Ceacam13 |
T |
A |
7: 17,753,012 (GRCm39) |
*264R |
probably null |
Het |
Clasrp |
G |
A |
7: 19,319,172 (GRCm39) |
R498* |
probably null |
Het |
Clec4n |
T |
A |
6: 123,221,505 (GRCm39) |
N146K |
probably benign |
Het |
Cntln |
T |
A |
4: 84,968,019 (GRCm39) |
V746E |
possibly damaging |
Het |
Defa29 |
T |
C |
8: 21,816,901 (GRCm39) |
T31A |
possibly damaging |
Het |
Egr4 |
A |
G |
6: 85,489,695 (GRCm39) |
S122P |
possibly damaging |
Het |
Fam221a |
T |
G |
6: 49,349,520 (GRCm39) |
D28E |
probably damaging |
Het |
Fanca |
G |
A |
8: 124,000,897 (GRCm39) |
T1161I |
possibly damaging |
Het |
Fcsk |
T |
C |
8: 111,610,041 (GRCm39) |
E991G |
probably benign |
Het |
Frat2 |
A |
G |
19: 41,836,113 (GRCm39) |
S80P |
probably benign |
Het |
Gse1 |
C |
A |
8: 121,301,845 (GRCm39) |
S985R |
unknown |
Het |
H2-M3 |
T |
A |
17: 37,581,988 (GRCm39) |
I148N |
probably damaging |
Het |
Hs6st3 |
G |
T |
14: 119,376,235 (GRCm39) |
V137L |
probably damaging |
Het |
Ighv1-42 |
T |
A |
12: 114,900,927 (GRCm39) |
M53L |
probably benign |
Het |
Klhl24 |
C |
T |
16: 19,941,735 (GRCm39) |
T561I |
|
Het |
Klhl26 |
C |
G |
8: 70,904,803 (GRCm39) |
G369A |
probably damaging |
Het |
Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
Lrrd1 |
A |
T |
5: 3,913,980 (GRCm39) |
D750V |
|
Het |
Mc5r |
A |
G |
18: 68,472,127 (GRCm39) |
D162G |
probably damaging |
Het |
Mrc2 |
T |
A |
11: 105,234,559 (GRCm39) |
S1026R |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,436,195 (GRCm39) |
H1945R |
probably damaging |
Het |
Nr4a2 |
A |
G |
2: 57,002,114 (GRCm39) |
M113T |
probably benign |
Het |
Obox2 |
G |
A |
7: 15,131,113 (GRCm39) |
G73D |
probably damaging |
Het |
Or1af1 |
G |
A |
2: 37,110,400 (GRCm39) |
A300T |
probably damaging |
Het |
Or2t48 |
A |
T |
11: 58,420,355 (GRCm39) |
C152* |
probably null |
Het |
Pappa2 |
C |
T |
1: 158,642,029 (GRCm39) |
M1342I |
probably benign |
Het |
Pla2g6 |
A |
T |
15: 79,202,039 (GRCm39) |
L44Q |
probably damaging |
Het |
Pnpla1 |
A |
T |
17: 29,099,973 (GRCm39) |
Q280L |
probably benign |
Het |
Pramel23 |
T |
A |
4: 143,423,749 (GRCm39) |
T347S |
probably damaging |
Het |
Prdm1 |
C |
T |
10: 44,326,174 (GRCm39) |
G117S |
probably damaging |
Het |
Prss36 |
A |
T |
7: 127,545,605 (GRCm39) |
F6I |
probably benign |
Het |
Sat2 |
A |
G |
11: 69,513,725 (GRCm39) |
Y81C |
probably damaging |
Het |
Sbspon |
T |
C |
1: 15,962,677 (GRCm39) |
D67G |
probably benign |
Het |
Shank2 |
G |
A |
7: 143,964,752 (GRCm39) |
V787M |
possibly damaging |
Het |
Stoml1 |
A |
T |
9: 58,163,968 (GRCm39) |
I96F |
probably damaging |
Het |
Tet2 |
C |
T |
3: 133,191,680 (GRCm39) |
G918D |
probably damaging |
Het |
Tgm4 |
A |
G |
9: 122,869,444 (GRCm39) |
I8V |
probably benign |
Het |
Tmem156 |
C |
T |
5: 65,237,531 (GRCm39) |
R43K |
probably damaging |
Het |
Trim44 |
T |
C |
2: 102,230,651 (GRCm39) |
S127G |
unknown |
Het |
Ttn |
C |
T |
2: 76,598,846 (GRCm39) |
V19356M |
probably damaging |
Het |
Vmn2r67 |
A |
C |
7: 84,799,723 (GRCm39) |
|
probably null |
Het |
Wdr90 |
C |
A |
17: 26,080,015 (GRCm39) |
V107L |
possibly damaging |
Het |
Zfp316 |
T |
C |
5: 143,241,161 (GRCm39) |
D286G |
unknown |
Het |
Zfp981 |
C |
A |
4: 146,622,080 (GRCm39) |
P335Q |
probably benign |
Het |
Zscan18 |
T |
C |
7: 12,508,343 (GRCm39) |
T386A |
possibly damaging |
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 |
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 |
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'- AGCCTGGAAGCCTGCTTTAG -3'
(R):5'- ATCCCCAGGATGCAATTCG -3'
Sequencing Primer
(F):5'- CTGGAAGCCTGCTTTAGAGGAC -3'
(R):5'- CAGGATGCAATTCGCCTTG -3'
|
Posted On |
2022-06-15 |