Incidental Mutation 'R9117:Tyw1'
| ID |
692590 |
| 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 # |
R9117 (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: 98.9%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
C |
G |
17: 36,203,963 (GRCm39) |
S185T |
probably benign |
Het |
| Agfg1 |
T |
G |
1: 82,872,216 (GRCm39) |
F516L |
possibly damaging |
Het |
| Akap5 |
T |
A |
12: 76,374,592 (GRCm39) |
M8K |
possibly damaging |
Het |
| Aldh1l2 |
C |
T |
10: 83,342,545 (GRCm39) |
V535I |
probably benign |
Het |
| Atg3 |
T |
C |
16: 45,006,564 (GRCm39) |
V277A |
probably damaging |
Het |
| Bloc1s6 |
C |
T |
2: 122,588,534 (GRCm39) |
P168L |
probably damaging |
Het |
| Ccr7 |
A |
G |
11: 99,036,086 (GRCm39) |
Y279H |
probably damaging |
Het |
| Cfap210 |
G |
T |
2: 69,612,103 (GRCm39) |
S175* |
probably null |
Het |
| Clint1 |
A |
G |
11: 45,781,562 (GRCm39) |
T211A |
probably damaging |
Het |
| Dchs2 |
T |
G |
3: 83,176,662 (GRCm39) |
D873E |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,926,164 (GRCm39) |
L149P |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,033,581 (GRCm39) |
|
probably benign |
Het |
| Dtx1 |
A |
G |
5: 120,848,356 (GRCm39) |
V8A |
probably benign |
Het |
| Enpp3 |
T |
A |
10: 24,702,078 (GRCm39) |
K91N |
possibly damaging |
Het |
| Fcho1 |
C |
T |
8: 72,164,712 (GRCm39) |
G523E |
possibly damaging |
Het |
| Ffar2 |
T |
C |
7: 30,518,616 (GRCm39) |
E308G |
probably damaging |
Het |
| Foxb2 |
T |
C |
19: 16,850,758 (GRCm39) |
K83E |
unknown |
Het |
| Git2 |
A |
G |
5: 114,887,621 (GRCm39) |
|
probably null |
Het |
| Gm10024 |
T |
C |
10: 77,547,339 (GRCm39) |
S17P |
unknown |
Het |
| Greb1l |
A |
T |
18: 10,542,422 (GRCm39) |
Y1339F |
probably benign |
Het |
| Grhl2 |
T |
A |
15: 37,270,912 (GRCm39) |
D33E |
probably damaging |
Het |
| Herc4 |
C |
A |
10: 63,126,300 (GRCm39) |
L551I |
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,902,528 (GRCm39) |
T390S |
probably benign |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,089 (GRCm39) |
H90L |
probably benign |
Het |
| Jag2 |
G |
T |
12: 112,877,279 (GRCm39) |
Y697* |
probably null |
Het |
| Kif1c |
T |
C |
11: 70,595,798 (GRCm39) |
V168A |
probably damaging |
Het |
| Lipn |
T |
C |
19: 34,046,041 (GRCm39) |
W5R |
probably damaging |
Het |
| Mavs |
G |
A |
2: 131,087,245 (GRCm39) |
A248T |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,392,773 (GRCm39) |
G390D |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,793,023 (GRCm39) |
H653R |
probably benign |
Het |
| Mrps9 |
T |
G |
1: 42,942,537 (GRCm39) |
S332A |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,423,070 (GRCm39) |
C4498R |
possibly damaging |
Het |
| Myo15b |
T |
A |
11: 115,778,743 (GRCm39) |
I1157N |
possibly damaging |
Het |
| Myo9b |
C |
T |
8: 71,800,451 (GRCm39) |
T1002M |
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,520,100 (GRCm39) |
M2328L |
probably benign |
Het |
| Or5h18 |
T |
C |
16: 58,847,653 (GRCm39) |
I206V |
probably benign |
Het |
| Or8b52 |
T |
A |
9: 38,577,106 (GRCm39) |
E11D |
probably benign |
Het |
| Pawr |
T |
C |
10: 108,169,140 (GRCm39) |
S155P |
probably damaging |
Het |
| Pcdhb15 |
G |
T |
18: 37,608,090 (GRCm39) |
V441F |
probably damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,624,905 (GRCm39) |
D1250G |
probably benign |
Het |
| Ptprs |
T |
A |
17: 56,742,853 (GRCm39) |
M430L |
possibly damaging |
Het |
| Raly |
T |
A |
2: 154,703,785 (GRCm39) |
S119T |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,109,412 (GRCm39) |
S128T |
probably benign |
Het |
| Sirt3 |
C |
T |
7: 140,449,362 (GRCm39) |
|
probably benign |
Het |
| Slc22a7 |
A |
G |
17: 46,748,029 (GRCm39) |
F210L |
probably damaging |
Het |
| Speg |
G |
T |
1: 75,364,444 (GRCm39) |
S275I |
probably damaging |
Het |
| Stk32c |
C |
T |
7: 138,768,141 (GRCm39) |
D47N |
unknown |
Het |
| Stra6 |
T |
G |
9: 58,059,822 (GRCm39) |
S594R |
probably benign |
Het |
| Sun2 |
T |
C |
15: 79,614,517 (GRCm39) |
H295R |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,053,667 (GRCm39) |
Q7470R |
probably damaging |
Het |
| Syt14 |
A |
T |
1: 192,666,126 (GRCm39) |
H259Q |
unknown |
Het |
| Toporsl |
A |
T |
4: 52,609,943 (GRCm39) |
|
probably benign |
Het |
| Trim50 |
A |
G |
5: 135,382,537 (GRCm39) |
S130G |
possibly damaging |
Het |
| Wdr18 |
T |
C |
10: 79,801,154 (GRCm39) |
V189A |
probably benign |
Het |
| Zfat |
C |
A |
15: 68,058,918 (GRCm39) |
A206S |
probably 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 |
|
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 |
|
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'- AATCCCTGGGTTTCTGCAGTG -3'
(R):5'- ATCCCCAGGATGCAATTCG -3'
Sequencing Primer
(F):5'- CTGGAAGCCTGCTTTAGAGGAC -3'
(R):5'- CAGGATGCAATTCGCCTTG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation