Incidental Mutation 'R9325:Tyw1'
| ID |
706451 |
| 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 # |
R9325 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
130284460-130370404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130291762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 77
(S77P)
|
| 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: S77P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037173
Gene: ENSMUSG00000056310
AA Change: S77P
| 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: S77P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047318
Gene: ENSMUSG00000056310
AA Change: S77P
| 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: S77P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098226
Gene: ENSMUSG00000056310
AA Change: S77P
| 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: S54P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123693
Gene: ENSMUSG00000056310
AA Change: S54P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Flavodoxin_1
|
50 |
201 |
4.3e-28 |
PFAM |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (59/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,646,578 (GRCm39) |
D1076G |
possibly damaging |
Het |
| Aadacl2fm1 |
T |
A |
3: 59,843,862 (GRCm39) |
N185K |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,849,279 (GRCm39) |
D1060G |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,991,257 (GRCm39) |
D4180E |
probably benign |
Het |
| Ank2 |
A |
C |
3: 126,775,504 (GRCm39) |
F42V |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,822,523 (GRCm39) |
I61T |
possibly damaging |
Het |
| Arhgap9 |
T |
C |
10: 127,161,722 (GRCm39) |
S238P |
probably damaging |
Het |
| Bpifa3 |
A |
T |
2: 153,975,600 (GRCm39) |
I57F |
probably damaging |
Het |
| Cdh17 |
A |
G |
4: 11,810,319 (GRCm39) |
Y670C |
probably damaging |
Het |
| Ceacam20 |
C |
A |
7: 19,720,607 (GRCm39) |
R515S |
probably benign |
Het |
| Cers5 |
A |
T |
15: 99,637,338 (GRCm39) |
V274E |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,186 (GRCm39) |
D865G |
|
Het |
| Cnih3 |
G |
A |
1: 181,181,072 (GRCm39) |
|
probably null |
Het |
| Coro2b |
G |
T |
9: 62,396,609 (GRCm39) |
H44N |
probably benign |
Het |
| Cuta |
A |
G |
17: 27,158,289 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,415,402 (GRCm39) |
I625V |
possibly damaging |
Het |
| Ddx4 |
A |
T |
13: 112,736,441 (GRCm39) |
F643Y |
probably damaging |
Het |
| Dlc1 |
A |
T |
8: 37,038,518 (GRCm39) |
V1020E |
possibly damaging |
Het |
| Dnah1 |
G |
T |
14: 30,998,160 (GRCm39) |
T2559K |
possibly damaging |
Het |
| Eng |
C |
T |
2: 32,561,445 (GRCm39) |
A152V |
probably damaging |
Het |
| F7 |
G |
T |
8: 13,083,430 (GRCm39) |
R190L |
probably benign |
Het |
| Fcgr4 |
T |
C |
1: 170,847,711 (GRCm39) |
V103A |
probably damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,877,934 (GRCm39) |
V1005I |
probably damaging |
Het |
| Fmod |
A |
T |
1: 133,968,371 (GRCm39) |
H137L |
probably damaging |
Het |
| Fndc7 |
T |
C |
3: 108,790,834 (GRCm39) |
D64G |
possibly damaging |
Het |
| Gucy2c |
A |
T |
6: 136,743,992 (GRCm39) |
C202* |
probably null |
Het |
| Hspg2 |
C |
T |
4: 137,265,552 (GRCm39) |
R1783W |
probably damaging |
Het |
| Hyal6 |
T |
A |
6: 24,743,455 (GRCm39) |
S384T |
probably damaging |
Het |
| Igsf21 |
T |
A |
4: 139,794,466 (GRCm39) |
I136F |
probably damaging |
Het |
| Isl1 |
A |
G |
13: 116,436,105 (GRCm39) |
S321P |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,639,378 (GRCm39) |
K813R |
probably benign |
Het |
| Klk7 |
A |
G |
7: 43,461,437 (GRCm39) |
E18G |
possibly damaging |
Het |
| Lox |
T |
C |
18: 52,661,400 (GRCm39) |
M225V |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 110,990,429 (GRCm39) |
M50K |
possibly damaging |
Het |
| Lrrn2 |
A |
T |
1: 132,865,241 (GRCm39) |
Q102L |
probably damaging |
Het |
| Mcm3 |
T |
C |
1: 20,875,562 (GRCm39) |
R692G |
probably benign |
Het |
| Mmp14 |
T |
C |
14: 54,676,248 (GRCm39) |
V326A |
probably damaging |
Het |
| Muc2 |
G |
A |
7: 141,298,559 (GRCm39) |
M70I |
|
Het |
| Nefl |
T |
C |
14: 68,322,460 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,212,271 (GRCm39) |
L586Q |
probably damaging |
Het |
| Or10ag58 |
G |
A |
2: 87,265,290 (GRCm39) |
G153D |
possibly damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,327 (GRCm39) |
D264G |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,990,558 (GRCm39) |
D467E |
probably damaging |
Het |
| Polr2g |
T |
A |
19: 8,774,669 (GRCm39) |
K71N |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,089,093 (GRCm39) |
H137R |
probably benign |
Het |
| Prkci |
A |
G |
3: 31,085,333 (GRCm39) |
K184R |
probably damaging |
Het |
| Prr15 |
G |
A |
6: 54,306,137 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
T |
A |
2: 145,727,819 (GRCm39) |
N896K |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,479,640 (GRCm39) |
E4414G |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,376,756 (GRCm39) |
D994E |
probably damaging |
Het |
| Slc6a4 |
C |
A |
11: 76,909,999 (GRCm39) |
P418Q |
probably benign |
Het |
| Smarcc2 |
T |
A |
10: 128,324,076 (GRCm39) |
M1138K |
unknown |
Het |
| Snph |
C |
T |
2: 151,436,208 (GRCm39) |
R240Q |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,647,095 (GRCm39) |
T122S |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,817,768 (GRCm39) |
D1244G |
probably benign |
Het |
| Tmem168 |
T |
C |
6: 13,583,253 (GRCm39) |
I543V |
probably benign |
Het |
| Usp36 |
T |
G |
11: 118,160,031 (GRCm39) |
D471A |
possibly damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,897,558 (GRCm39) |
Y191C |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,268,433 (GRCm39) |
Q12R |
possibly damaging |
Het |
| Zfp820 |
A |
T |
17: 22,038,380 (GRCm39) |
I316N |
probably damaging |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,344,227 (GRCm39) |
F62L |
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 |
|
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 |
|
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'- TTGAGGACCCAGTTAGGCTG -3'
(R):5'- ACATGCCTGAAGTCCACGTC -3'
Sequencing Primer
(F):5'- GAGGCTGGCTTTGAACTCACATC -3'
(R):5'- GGAATCTCCACCCTCCAGAGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation