Incidental Mutation 'R5058:Tyw1'
ID |
391013 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tyw1
|
Ensembl Gene |
ENSMUSG00000056310 |
Gene Name |
tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) |
Synonyms |
Rsafd1 |
MMRRC Submission |
042648-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5058 (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 130305927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 350
(L350Q)
|
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 |
probably benign
Transcript: ENSMUST00000044204
|
SMART Domains |
Protein: ENSMUSP00000047318 Gene: ENSMUSG00000056310
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
AA Change: L350Q
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000098226 Gene: ENSMUSG00000056310 AA Change: L350Q
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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.2%
|
Validation Efficiency |
100% (79/79) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprhl1 |
T |
C |
8: 13,292,625 (GRCm39) |
Y222C |
probably damaging |
Het |
Adprs |
A |
G |
4: 126,212,238 (GRCm39) |
S94P |
probably damaging |
Het |
Atp11b |
A |
G |
3: 35,863,510 (GRCm39) |
E202G |
probably benign |
Het |
Cacna1d |
G |
T |
14: 29,836,201 (GRCm39) |
S849* |
probably null |
Het |
Camsap1 |
T |
C |
2: 25,829,375 (GRCm39) |
D783G |
probably benign |
Het |
Cbfa2t2 |
T |
A |
2: 154,346,665 (GRCm39) |
I124N |
probably damaging |
Het |
Ccdc13 |
A |
T |
9: 121,646,613 (GRCm39) |
|
probably benign |
Het |
Cfap44 |
G |
A |
16: 44,240,567 (GRCm39) |
|
probably null |
Het |
Col17a1 |
C |
A |
19: 47,673,989 (GRCm39) |
E13* |
probably null |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dennd6b |
A |
G |
15: 89,071,553 (GRCm39) |
L288P |
possibly damaging |
Het |
Dhx37 |
A |
C |
5: 125,499,295 (GRCm39) |
Y638D |
probably benign |
Het |
Epb41 |
G |
A |
4: 131,734,746 (GRCm39) |
|
probably benign |
Het |
Esp31 |
A |
T |
17: 38,955,500 (GRCm39) |
I48L |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 15,908,154 (GRCm39) |
Q2616R |
probably damaging |
Het |
Fbxo33 |
A |
G |
12: 59,265,919 (GRCm39) |
I116T |
probably benign |
Het |
Flnb |
G |
T |
14: 7,924,262 (GRCm38) |
E1792* |
probably null |
Het |
Fzd2 |
G |
A |
11: 102,495,633 (GRCm39) |
G26R |
probably damaging |
Het |
Gm11677 |
T |
A |
11: 111,616,264 (GRCm39) |
|
noncoding transcript |
Het |
Gm7137 |
A |
T |
10: 77,623,905 (GRCm39) |
|
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,063,648 (GRCm39) |
T252A |
possibly damaging |
Het |
Hyal5 |
T |
C |
6: 24,891,484 (GRCm39) |
F433L |
probably damaging |
Het |
Kcnmb4 |
T |
A |
10: 116,299,833 (GRCm39) |
|
probably benign |
Het |
Meltf |
A |
G |
16: 31,706,421 (GRCm39) |
|
probably null |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,230,491 (GRCm39) |
D1213G |
probably benign |
Het |
Ncam1 |
A |
C |
9: 49,709,995 (GRCm39) |
F12C |
probably benign |
Het |
Nfxl1 |
A |
T |
5: 72,713,582 (GRCm39) |
D120E |
probably benign |
Het |
Nrg1 |
T |
C |
8: 32,314,587 (GRCm39) |
Q142R |
probably damaging |
Het |
Or10c1 |
A |
G |
17: 37,522,558 (GRCm39) |
L62P |
probably damaging |
Het |
Or1j18 |
T |
G |
2: 36,625,011 (GRCm39) |
L226R |
possibly damaging |
Het |
Or2h15 |
G |
A |
17: 38,441,432 (GRCm39) |
S217F |
probably damaging |
Het |
Or56a4 |
T |
C |
7: 104,806,355 (GRCm39) |
N178S |
probably damaging |
Het |
Or5k16 |
T |
C |
16: 58,736,435 (GRCm39) |
T190A |
probably benign |
Het |
Or8c10 |
C |
A |
9: 38,279,220 (GRCm39) |
T116K |
probably damaging |
Het |
Or8g30 |
C |
A |
9: 39,229,960 (GRCm39) |
V317L |
probably benign |
Het |
Or9s18 |
C |
A |
13: 65,300,743 (GRCm39) |
A235D |
possibly damaging |
Het |
Padi2 |
G |
T |
4: 140,659,432 (GRCm39) |
V246L |
probably benign |
Het |
Pgghg |
C |
T |
7: 140,522,455 (GRCm39) |
T63I |
possibly damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,162,758 (GRCm39) |
N1117S |
probably benign |
Het |
Plch1 |
G |
T |
3: 63,630,202 (GRCm39) |
T534K |
probably damaging |
Het |
Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
Polr3c |
T |
C |
3: 96,630,833 (GRCm39) |
I196V |
probably benign |
Het |
Prph |
A |
T |
15: 98,953,113 (GRCm39) |
|
probably benign |
Het |
Ptprg |
C |
A |
14: 12,037,387 (GRCm38) |
T189K |
possibly damaging |
Het |
R3hcc1 |
A |
T |
14: 69,941,463 (GRCm39) |
I183N |
probably damaging |
Het |
Rundc1 |
T |
C |
11: 101,316,363 (GRCm39) |
L145P |
probably benign |
Het |
Slc26a3 |
A |
G |
12: 31,520,964 (GRCm39) |
K723E |
possibly damaging |
Het |
Slc38a3 |
T |
C |
9: 107,536,390 (GRCm39) |
E2G |
possibly damaging |
Het |
Slc9a5 |
G |
T |
8: 106,082,490 (GRCm39) |
V252L |
probably benign |
Het |
Smim26 |
C |
T |
2: 144,437,043 (GRCm39) |
T64M |
probably benign |
Het |
Socs4 |
C |
T |
14: 47,527,589 (GRCm39) |
R175* |
probably null |
Het |
Srebf2 |
T |
C |
15: 82,066,251 (GRCm39) |
S600P |
probably damaging |
Het |
Tas2r107 |
A |
T |
6: 131,636,705 (GRCm39) |
S115T |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 36,097,907 (GRCm39) |
D447G |
possibly damaging |
Het |
Thbs2 |
T |
A |
17: 14,896,591 (GRCm39) |
D766V |
probably damaging |
Het |
Tinagl1 |
A |
G |
4: 130,061,250 (GRCm39) |
V300A |
probably benign |
Het |
Tle6 |
T |
A |
10: 81,430,072 (GRCm39) |
N332I |
possibly damaging |
Het |
Tle6 |
C |
A |
10: 81,431,791 (GRCm39) |
W151L |
probably damaging |
Het |
Tnfrsf13c |
C |
T |
15: 82,108,408 (GRCm39) |
V36M |
probably damaging |
Het |
Tns2 |
T |
C |
15: 102,016,295 (GRCm39) |
I211T |
possibly damaging |
Het |
Trp63 |
A |
G |
16: 25,701,344 (GRCm39) |
N379D |
probably damaging |
Het |
Trpc2 |
T |
C |
7: 101,738,316 (GRCm39) |
W433R |
probably damaging |
Het |
Usf3 |
T |
C |
16: 44,033,070 (GRCm39) |
L76P |
probably damaging |
Het |
Vmn2r79 |
T |
C |
7: 86,651,423 (GRCm39) |
L274P |
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 |
|
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'- TCAGTCATTTGCCAAAGTTAGGC -3'
(R):5'- CCTCGCAACATCGATTTGGAG -3'
Sequencing Primer
(F):5'- GCCAAAGTTAGGCAGTTTGTC -3'
(R):5'- TCGCAACATCGATTTGGAGTTGAAG -3'
|
Posted On |
2016-06-06 |