Incidental Mutation 'R9172:Tyw1'
| ID |
696460 |
| 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 # |
R9172 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
130284460-130370404 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 130325520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 469
(C469*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040213]
|
| AlphaFold |
Q8BJM7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040213
AA Change: C469*
|
| SMART Domains |
Protein: ENSMUSP00000037173
Gene: ENSMUSG00000056310
AA Change: C469*
| 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 |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (63/63) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
T |
2: 93,691,833 (GRCm39) |
L332Q |
probably damaging |
Het |
| Adcy1 |
A |
G |
11: 7,110,317 (GRCm39) |
N855D |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,922,251 (GRCm39) |
C1199S |
probably benign |
Het |
| Alyref |
G |
A |
11: 120,486,842 (GRCm39) |
R140C |
probably benign |
Het |
| Arhgap26 |
A |
T |
18: 39,378,382 (GRCm39) |
I92F |
probably damaging |
Het |
| Atp9b |
G |
A |
18: 80,960,993 (GRCm39) |
R73* |
probably null |
Het |
| Btaf1 |
G |
A |
19: 36,977,630 (GRCm39) |
A1483T |
probably damaging |
Het |
| Cmtr2 |
T |
C |
8: 110,948,761 (GRCm39) |
L357P |
probably damaging |
Het |
| Commd7 |
A |
T |
2: 153,470,474 (GRCm39) |
L51Q |
possibly damaging |
Het |
| Cpd |
T |
A |
11: 76,675,252 (GRCm39) |
I1290L |
probably benign |
Het |
| Cry2 |
C |
A |
2: 92,243,993 (GRCm39) |
E393D |
probably damaging |
Het |
| Ctsm |
A |
T |
13: 61,685,643 (GRCm39) |
M74K |
|
Het |
| Dnai7 |
A |
G |
6: 145,123,175 (GRCm39) |
F564L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,031,771 (GRCm39) |
Y3491C |
probably damaging |
Het |
| Erc1 |
A |
C |
6: 119,801,842 (GRCm39) |
N58K |
possibly damaging |
Het |
| Fbxw21 |
T |
C |
9: 108,975,764 (GRCm39) |
T211A |
probably benign |
Het |
| Fcsk |
A |
G |
8: 111,610,557 (GRCm39) |
W949R |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,336,793 (GRCm39) |
V1388A |
probably benign |
Het |
| Gca |
T |
G |
2: 62,520,368 (GRCm39) |
I176S |
probably damaging |
Het |
| Gimap7 |
A |
T |
6: 48,700,761 (GRCm39) |
K116* |
probably null |
Het |
| Gm40460 |
ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,447 (GRCm39) |
|
probably benign |
Het |
| Gm9195 |
A |
C |
14: 72,711,154 (GRCm39) |
L428R |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,756,255 (GRCm39) |
I490T |
possibly damaging |
Het |
| Kif24 |
T |
C |
4: 41,400,442 (GRCm39) |
T499A |
probably benign |
Het |
| Mbtps1 |
G |
A |
8: 120,260,108 (GRCm39) |
T413I |
probably damaging |
Het |
| Med4 |
A |
T |
14: 73,751,365 (GRCm39) |
S105C |
probably benign |
Het |
| Mgat1 |
G |
A |
11: 49,151,910 (GRCm39) |
R131Q |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,477,961 (GRCm39) |
*984W |
probably null |
Het |
| Mybpc1 |
T |
C |
10: 88,379,615 (GRCm39) |
E628G |
possibly damaging |
Het |
| Myh8 |
C |
T |
11: 67,183,260 (GRCm39) |
P713L |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,732,369 (GRCm39) |
D706G |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,424,751 (GRCm39) |
C997S |
possibly damaging |
Het |
| Nkx2-1 |
C |
A |
12: 56,581,752 (GRCm39) |
G32C |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,112,653 (GRCm39) |
T466A |
probably benign |
Het |
| Opa1 |
C |
T |
16: 29,439,232 (GRCm39) |
R683C |
probably benign |
Het |
| Opa3 |
C |
T |
7: 18,989,466 (GRCm39) |
R110C |
probably damaging |
Het |
| Or5p63 |
T |
C |
7: 107,811,169 (GRCm39) |
E189G |
probably benign |
Het |
| Or8k38 |
T |
A |
2: 86,487,879 (GRCm39) |
I308L |
probably benign |
Het |
| Ppfibp2 |
T |
A |
7: 107,337,525 (GRCm39) |
L609* |
probably null |
Het |
| Pygo2 |
T |
A |
3: 89,340,617 (GRCm39) |
D338E |
possibly damaging |
Het |
| Pzp |
A |
T |
6: 128,502,172 (GRCm39) |
M59K |
probably benign |
Het |
| Reln |
A |
G |
5: 22,155,815 (GRCm39) |
|
probably null |
Het |
| Ripor1 |
A |
G |
8: 106,347,833 (GRCm39) |
D1097G |
unknown |
Het |
| Rmdn3 |
T |
C |
2: 118,968,863 (GRCm39) |
K443E |
probably benign |
Het |
| Rnf145 |
A |
G |
11: 44,448,262 (GRCm39) |
D373G |
possibly damaging |
Het |
| Sec23b |
A |
T |
2: 144,401,179 (GRCm39) |
E13D |
probably benign |
Het |
| Semp2l1 |
G |
T |
1: 32,585,165 (GRCm39) |
H248Q |
probably benign |
Het |
| Slc39a6 |
A |
G |
18: 24,715,399 (GRCm39) |
F707S |
probably damaging |
Het |
| Sox11 |
G |
A |
12: 27,391,536 (GRCm39) |
A291V |
possibly damaging |
Het |
| Spart |
T |
A |
3: 55,032,267 (GRCm39) |
V367D |
possibly damaging |
Het |
| Spata31e3 |
A |
G |
13: 50,401,417 (GRCm39) |
F303S |
probably benign |
Het |
| Strap |
A |
T |
6: 137,718,365 (GRCm39) |
K156N |
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,645,152 (GRCm39) |
I951F |
possibly damaging |
Het |
| Taar7a |
T |
C |
10: 23,868,677 (GRCm39) |
I235V |
probably benign |
Het |
| Tek |
T |
A |
4: 94,692,583 (GRCm39) |
N230K |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,828,050 (GRCm39) |
H3132R |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,783,432 (GRCm39) |
D544G |
probably damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,186,403 (GRCm39) |
M94K |
possibly damaging |
Het |
| Vps33a |
T |
C |
5: 123,674,604 (GRCm39) |
T388A |
probably benign |
Het |
| Vta1 |
A |
G |
10: 14,551,743 (GRCm39) |
I152T |
probably damaging |
Het |
| Vtcn1 |
A |
G |
3: 100,799,865 (GRCm39) |
D242G |
probably benign |
Het |
| Zfp12 |
T |
A |
5: 143,231,220 (GRCm39) |
C548S |
probably damaging |
Het |
| Zfp263 |
A |
G |
16: 3,567,323 (GRCm39) |
D546G |
probably benign |
Het |
| Zfp324 |
T |
A |
7: 12,704,689 (GRCm39) |
C293S |
probably damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,984,626 (GRCm39) |
K159E |
probably benign |
Het |
| Zscan4c |
A |
T |
7: 10,743,819 (GRCm39) |
I473F |
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 |
|
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'- CCCCATCAATCATCCTGTGTCTA -3'
(R):5'- GACATCTGGACCAGGGTCA -3'
Sequencing Primer
(F):5'- CCATTAGCTTCAGTTCCAGGTGAG -3'
(R):5'- GGCCAGCCGTCCACTCTTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation