Incidental Mutation 'R6366:Tyw1'
| ID |
512685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyw1
|
| Ensembl Gene |
ENSMUSG00000056310 |
| Gene Name |
tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) |
| Synonyms |
Rsafd1 |
| MMRRC Submission |
044516-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6366 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
130255619-130341563 bp(+) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 130281951 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040213]
[ENSMUST00000044204]
[ENSMUST00000100662]
|
| AlphaFold |
Q8BJM7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040213
|
| SMART Domains |
Protein: ENSMUSP00000037173
Gene: ENSMUSG00000056310
| 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 |
unknown
Transcript: ENSMUST00000044204
AA Change: F414L
|
| SMART Domains |
Protein: ENSMUSP00000047318
Gene: ENSMUSG00000056310
AA Change: F414L
| 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 benign
Transcript: ENSMUST00000100662
|
| SMART Domains |
Protein: ENSMUSP00000098226
Gene: ENSMUSG00000056310
| 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 |
noncoding transcript
Transcript: ENSMUST00000173375
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.0%
- 20x: 93.4%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930430A15Rik |
A |
G |
2: 111,169,592 (GRCm38) |
|
probably null |
Het |
| Agl |
A |
G |
3: 116,791,117 (GRCm38) |
F185L |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,999,358 (GRCm38) |
D131G |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,487,652 (GRCm38) |
K947E |
probably benign |
Het |
| C87499 |
T |
A |
4: 88,628,865 (GRCm38) |
I106F |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 45,943,388 (GRCm38) |
E772G |
probably damaging |
Het |
| Ccdc7a |
A |
G |
8: 128,855,992 (GRCm38) |
V1055A |
unknown |
Het |
| Chd1l |
A |
G |
3: 97,594,160 (GRCm38) |
V190A |
probably benign |
Het |
| Chl1 |
C |
A |
6: 103,729,236 (GRCm38) |
N396K |
possibly damaging |
Het |
| CN725425 |
T |
G |
15: 91,246,921 (GRCm38) |
Y420D |
possibly damaging |
Het |
| Col6a1 |
A |
T |
10: 76,710,970 (GRCm38) |
I806N |
unknown |
Het |
| Csmd2 |
A |
G |
4: 128,483,452 (GRCm38) |
K2042E |
probably benign |
Het |
| Eif4a1 |
G |
T |
11: 69,670,955 (GRCm38) |
D15E |
probably benign |
Het |
| Etfb |
T |
C |
7: 43,452,941 (GRCm38) |
L119S |
probably damaging |
Het |
| Fbxo42 |
T |
A |
4: 141,199,949 (GRCm38) |
S513R |
probably benign |
Het |
| Gm8765 |
T |
C |
13: 50,701,936 (GRCm38) |
Y537H |
probably benign |
Het |
| Gys2 |
C |
A |
6: 142,463,394 (GRCm38) |
C45F |
probably benign |
Het |
| Hspa1a |
G |
A |
17: 34,970,524 (GRCm38) |
P468S |
probably damaging |
Het |
| Kdm2a |
G |
T |
19: 4,324,932 (GRCm38) |
Q724K |
probably benign |
Het |
| Lama3 |
G |
T |
18: 12,482,137 (GRCm38) |
G1373W |
probably damaging |
Het |
| Lhx1 |
A |
T |
11: 84,522,208 (GRCm38) |
F84Y |
probably damaging |
Het |
| Lpxn |
G |
A |
19: 12,824,799 (GRCm38) |
V163M |
probably benign |
Het |
| Lrrc7 |
T |
C |
3: 158,135,375 (GRCm38) |
Q1389R |
probably benign |
Het |
| Lrtm2 |
T |
C |
6: 119,317,277 (GRCm38) |
R298G |
probably damaging |
Het |
| Ltv1 |
A |
G |
10: 13,180,995 (GRCm38) |
V268A |
probably benign |
Het |
| Mgat4d |
T |
A |
8: 83,368,951 (GRCm38) |
|
probably null |
Het |
| Mknk2 |
C |
A |
10: 80,671,933 (GRCm38) |
R33L |
probably damaging |
Het |
| Ms4a1 |
A |
G |
19: 11,258,698 (GRCm38) |
S42P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,646,044 (GRCm38) |
I2984M |
unknown |
Het |
| Mup12 |
A |
C |
4: 60,740,658 (GRCm38) |
F74V |
probably damaging |
Het |
| Nacad |
A |
C |
11: 6,601,196 (GRCm38) |
L665R |
probably benign |
Het |
| Pde6a |
T |
A |
18: 61,265,071 (GRCm38) |
|
probably null |
Het |
| Plb1 |
A |
G |
5: 32,314,085 (GRCm38) |
N579D |
possibly damaging |
Het |
| Podn |
T |
A |
4: 108,018,804 (GRCm38) |
I552F |
possibly damaging |
Het |
| Prl3b1 |
A |
T |
13: 27,243,892 (GRCm38) |
M62L |
probably benign |
Het |
| Ptpn13 |
G |
T |
5: 103,551,053 (GRCm38) |
R1134L |
probably damaging |
Het |
| Rpl37 |
T |
A |
15: 5,118,508 (GRCm38) |
|
probably null |
Het |
| Samd4 |
T |
A |
14: 47,074,150 (GRCm38) |
|
probably null |
Het |
| Sh3rf2 |
T |
C |
18: 42,153,065 (GRCm38) |
V541A |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,749,380 (GRCm38) |
V335A |
probably damaging |
Het |
| Slc7a7 |
T |
C |
14: 54,374,600 (GRCm38) |
Y282C |
probably damaging |
Het |
| Spag7 |
T |
C |
11: 70,664,592 (GRCm38) |
K125E |
possibly damaging |
Het |
| Sptan1 |
T |
C |
2: 30,020,455 (GRCm38) |
S1831P |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 31,141,438 (GRCm38) |
K2097R |
probably benign |
Het |
| Stk38 |
A |
G |
17: 28,974,364 (GRCm38) |
W364R |
probably benign |
Het |
| Tectb |
G |
A |
19: 55,181,918 (GRCm38) |
G67D |
probably damaging |
Het |
| Ttll9 |
G |
T |
2: 152,991,605 (GRCm38) |
D208Y |
probably damaging |
Het |
| Tyro3 |
G |
A |
2: 119,816,675 (GRCm38) |
D758N |
probably damaging |
Het |
| Unc5b |
C |
T |
10: 60,778,312 (GRCm38) |
A253T |
probably benign |
Het |
| Wtap |
A |
T |
17: 12,968,058 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Tyw1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02329:Tyw1
|
APN |
5 |
130,267,080 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL02873:Tyw1
|
APN |
5 |
130,335,330 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02879:Tyw1
|
APN |
5 |
130,296,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03080:Tyw1
|
APN |
5 |
130,267,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03291:Tyw1
|
APN |
5 |
130,299,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03297:Tyw1
|
APN |
5 |
130,340,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
remnant
|
UTSW |
5 |
130,262,921 (GRCm38) |
missense |
probably damaging |
0.99 |
|
schimmel
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
tyrone
|
UTSW |
5 |
130,296,679 (GRCm38) |
nonsense |
probably null |
|
|
yang
|
UTSW |
5 |
130,259,035 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1420:Tyw1
|
UTSW |
5 |
130,274,745 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1650:Tyw1
|
UTSW |
5 |
130,288,911 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1674:Tyw1
|
UTSW |
5 |
130,269,328 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1789:Tyw1
|
UTSW |
5 |
130,258,993 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1996:Tyw1
|
UTSW |
5 |
130,262,811 (GRCm38) |
splice site |
probably benign |
|
|
R2421:Tyw1
|
UTSW |
5 |
130,269,260 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3913:Tyw1
|
UTSW |
5 |
130,259,035 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4412:Tyw1
|
UTSW |
5 |
130,335,232 (GRCm38) |
splice site |
probably null |
|
|
R4835:Tyw1
|
UTSW |
5 |
130,277,058 (GRCm38) |
missense |
probably benign |
|
|
R5058:Tyw1
|
UTSW |
5 |
130,277,086 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5190:Tyw1
|
UTSW |
5 |
130,267,915 (GRCm38) |
nonsense |
probably null |
|
|
R5398:Tyw1
|
UTSW |
5 |
130,277,157 (GRCm38) |
intron |
probably benign |
|
|
R5459:Tyw1
|
UTSW |
5 |
130,274,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5597:Tyw1
|
UTSW |
5 |
130,274,657 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5704:Tyw1
|
UTSW |
5 |
130,282,022 (GRCm38) |
nonsense |
probably null |
|
|
R5825:Tyw1
|
UTSW |
5 |
130,268,088 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5887:Tyw1
|
UTSW |
5 |
130,325,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6072:Tyw1
|
UTSW |
5 |
130,267,911 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6349:Tyw1
|
UTSW |
5 |
130,277,031 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7012:Tyw1
|
UTSW |
5 |
130,277,730 (GRCm38) |
splice site |
probably null |
|
|
R7259:Tyw1
|
UTSW |
5 |
130,267,872 (GRCm38) |
splice site |
probably null |
|
|
R7328:Tyw1
|
UTSW |
5 |
130,262,844 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7555:Tyw1
|
UTSW |
5 |
130,274,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8006:Tyw1
|
UTSW |
5 |
130,268,072 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8171:Tyw1
|
UTSW |
5 |
130,300,014 (GRCm38) |
missense |
probably benign |
0.19 |
|
R8196:Tyw1
|
UTSW |
5 |
130,300,021 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8714:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8715:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8716:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8970:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8992:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9117:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9119:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9120:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9172:Tyw1
|
UTSW |
5 |
130,296,679 (GRCm38) |
nonsense |
probably null |
|
|
R9204:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9205:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9207:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9325:Tyw1
|
UTSW |
5 |
130,262,921 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9364:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9368:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9369:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9470:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9471:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9566:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9567:Tyw1
|
UTSW |
5 |
130,269,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCTGTGAGTGACAACGAG -3'
(R):5'- TGTCTTCCAGAGAGGGATCC -3'
Sequencing Primer
(F):5'- AGATTGAGCAAAGGGGTTCATTTTTC -3'
(R):5'- GGATCCTCAAGTCAGACTGTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation