Incidental Mutation 'R3913:Tyw1'
ID |
309499 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tyw1
|
Ensembl Gene |
ENSMUSG00000056310 |
Gene Name |
tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) |
Synonyms |
Rsafd1 |
MMRRC Submission |
040911-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3913 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
130284460-130370404 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 130287876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 36
(V36D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026387]
[ENSMUST00000040213]
[ENSMUST00000044204]
[ENSMUST00000100662]
[ENSMUST00000125625]
[ENSMUST00000139211]
[ENSMUST00000147619]
|
AlphaFold |
Q8BJM7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026387
|
SMART Domains |
Protein: ENSMUSP00000026387 Gene: ENSMUSG00000025337
Domain | Start | End | E-Value | Type |
Pfam:SBDS
|
14 |
101 |
1.2e-36 |
PFAM |
Pfam:SBDS_C
|
107 |
225 |
2.1e-42 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040213
AA Change: V36D
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000037173 Gene: ENSMUSG00000056310 AA Change: V36D
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: V36D
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000047318 Gene: ENSMUSG00000056310 AA Change: V36D
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 |
possibly damaging
Transcript: ENSMUST00000100662
AA Change: V36D
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000098226 Gene: ENSMUSG00000056310 AA Change: V36D
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 benign
Transcript: ENSMUST00000125625
|
SMART Domains |
Protein: ENSMUSP00000115494 Gene: ENSMUSG00000025337
Domain | Start | End | E-Value | Type |
Pfam:SBDS
|
3 |
66 |
2.1e-25 |
PFAM |
Pfam:SBDS_C
|
69 |
173 |
9.9e-40 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139211
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147619
AA Change: V13D
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000123693 Gene: ENSMUSG00000056310 AA Change: V13D
Domain | Start | End | E-Value | Type |
Pfam:Flavodoxin_1
|
50 |
201 |
4.3e-28 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173375
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200815
|
Meta Mutation Damage Score |
0.6002 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (59/59) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh7 |
T |
A |
3: 137,927,541 (GRCm39) |
V29E |
probably damaging |
Het |
Adra1d |
T |
A |
2: 131,404,075 (GRCm39) |
D5V |
probably damaging |
Het |
Arid1b |
A |
G |
17: 5,392,532 (GRCm39) |
I2021V |
possibly damaging |
Het |
Birc6 |
A |
T |
17: 74,880,608 (GRCm39) |
R462* |
probably null |
Het |
Cchcr1 |
T |
C |
17: 35,836,233 (GRCm39) |
V341A |
probably damaging |
Het |
Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,874,759 (GRCm39) |
D783G |
possibly damaging |
Het |
Dcaf15 |
T |
C |
8: 84,825,794 (GRCm39) |
Y271C |
probably damaging |
Het |
Dcun1d2 |
A |
C |
8: 13,331,082 (GRCm39) |
M16R |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
Dnttip2 |
T |
C |
3: 122,069,040 (GRCm39) |
V85A |
possibly damaging |
Het |
Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
Exoc7 |
T |
C |
11: 116,197,731 (GRCm39) |
D27G |
probably benign |
Het |
Gdpd5 |
A |
G |
7: 99,087,546 (GRCm39) |
D70G |
probably null |
Het |
Glyr1 |
A |
G |
16: 4,849,777 (GRCm39) |
F199L |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,368,039 (GRCm39) |
M414K |
probably damaging |
Het |
Gpr132 |
C |
A |
12: 112,816,640 (GRCm39) |
W62L |
probably benign |
Het |
Gpr179 |
A |
T |
11: 97,225,591 (GRCm39) |
V2188E |
probably benign |
Het |
Ilf3 |
C |
T |
9: 21,309,422 (GRCm39) |
A526V |
possibly damaging |
Het |
Ints10 |
T |
A |
8: 69,266,272 (GRCm39) |
S478T |
probably damaging |
Het |
Kcnab2 |
A |
G |
4: 152,479,689 (GRCm39) |
V187A |
probably damaging |
Het |
Kcnj15 |
C |
T |
16: 95,097,329 (GRCm39) |
T317I |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Klhl30 |
T |
C |
1: 91,287,166 (GRCm39) |
V484A |
possibly damaging |
Het |
Krt90 |
G |
A |
15: 101,471,218 (GRCm39) |
R15W |
probably damaging |
Het |
Liph |
G |
T |
16: 21,781,009 (GRCm39) |
|
probably benign |
Het |
Lrrc7 |
G |
A |
3: 157,997,589 (GRCm39) |
L158F |
probably damaging |
Het |
Maml1 |
T |
C |
11: 50,154,259 (GRCm39) |
T602A |
probably benign |
Het |
Mast4 |
A |
G |
13: 102,895,177 (GRCm39) |
L782P |
probably damaging |
Het |
Mei4 |
A |
G |
9: 81,772,316 (GRCm39) |
K43R |
probably benign |
Het |
Mettl4 |
A |
G |
17: 95,047,960 (GRCm39) |
V227A |
probably benign |
Het |
Mst1r |
G |
A |
9: 107,791,945 (GRCm39) |
R827Q |
probably benign |
Het |
Olfm1 |
A |
G |
2: 28,098,186 (GRCm39) |
T83A |
possibly damaging |
Het |
Or1e30 |
G |
T |
11: 73,678,522 (GRCm39) |
G253W |
probably damaging |
Het |
Or5m10b |
T |
C |
2: 85,699,115 (GRCm39) |
Y60H |
probably damaging |
Het |
Parp4 |
A |
G |
14: 56,857,975 (GRCm39) |
E869G |
probably damaging |
Het |
Pate4 |
C |
A |
9: 35,523,140 (GRCm39) |
M1I |
probably null |
Het |
Patj |
A |
G |
4: 98,457,338 (GRCm39) |
D1280G |
probably damaging |
Het |
Ppargc1b |
T |
C |
18: 61,444,447 (GRCm39) |
S255G |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,696,552 (GRCm39) |
I521M |
probably damaging |
Het |
Rlim |
T |
C |
X: 103,006,267 (GRCm39) |
T545A |
probably benign |
Het |
Robo2 |
A |
T |
16: 73,831,893 (GRCm39) |
D262E |
probably damaging |
Het |
Sec14l5 |
A |
G |
16: 4,965,720 (GRCm39) |
|
probably benign |
Het |
Sema4b |
A |
G |
7: 79,870,222 (GRCm39) |
S467G |
probably benign |
Het |
Setd2 |
C |
T |
9: 110,380,114 (GRCm39) |
R1310C |
probably damaging |
Het |
Sh3d19 |
T |
C |
3: 85,992,083 (GRCm39) |
I37T |
probably damaging |
Het |
Slc23a3 |
T |
A |
1: 75,105,566 (GRCm39) |
I422F |
probably benign |
Het |
Snap91 |
T |
C |
9: 86,674,610 (GRCm39) |
T534A |
possibly damaging |
Het |
Son |
A |
T |
16: 91,456,999 (GRCm39) |
|
probably benign |
Het |
Tnks |
A |
T |
8: 35,340,228 (GRCm39) |
S463R |
probably damaging |
Het |
Tubb3 |
A |
G |
8: 124,147,748 (GRCm39) |
H227R |
possibly damaging |
Het |
Vwa5a |
T |
C |
9: 38,646,039 (GRCm39) |
I469T |
probably damaging |
Het |
Zdhhc8 |
A |
G |
16: 18,044,587 (GRCm39) |
L311P |
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 |
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 |
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'- ACAACATCAATGGGCATCTTTG -3'
(R):5'- CGAGCAAACGAACTGGTTC -3'
Sequencing Primer
(F):5'- AACATCAATGGGCATCTTTGTGTGTG -3'
(R):5'- GCAAACGAACTGGTTCTTCACTGG -3'
|
Posted On |
2015-04-17 |