Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03297:Tyw1'

416116

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tyw1

Ensembl Gene

ENSMUSG00000056310

Gene Name

tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)

Synonyms

Rsafd1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03297

Quality Score

Status

Chromosome

Chromosomal Location

130284460-130370404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130369575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 687 (A687V)

Ref Sequence

ENSEMBL: ENSMUSP00000037173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040213]

AlphaFold

Q8BJM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040213
AA Change: A687V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037173
Gene: ENSMUSG00000056310
AA Change: A687V

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

Coding Region Coverage

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,341,663 (GRCm39)	G1624S	probably damaging	Het
Adhfe1	A	G	1: 9,620,173 (GRCm39)		probably benign	Het
Ano6	C	A	15: 95,860,158 (GRCm39)	T760N	probably damaging	Het
Camsap2	T	C	1: 136,225,539 (GRCm39)	M196V	probably benign	Het
Cd209d	T	C	8: 3,928,476 (GRCm39)	D3G	possibly damaging	Het
Cdh5	T	A	8: 104,854,831 (GRCm39)	F253Y	probably damaging	Het
Cnot10	T	C	9: 114,427,784 (GRCm39)	E610G	possibly damaging	Het
Cnot4	T	C	6: 35,001,158 (GRCm39)	N579S	probably benign	Het
Csmd1	G	T	8: 16,059,432 (GRCm39)	S2101*	probably null	Het
Dgkq	C	A	5: 108,798,140 (GRCm39)	R706L	probably damaging	Het
Gm5422	T	C	10: 31,125,727 (GRCm39)		noncoding transcript	Het
Gpr34	A	G	X: 13,505,681 (GRCm39)	Y70C	probably damaging	Het
Herc6	T	A	6: 57,639,374 (GRCm39)	L914Q	probably benign	Het
Ifitm6	T	C	7: 140,595,948 (GRCm39)	Y115C	probably damaging	Het
Iqcg	G	T	16: 32,856,002 (GRCm39)		probably benign	Het
Myo15a	A	G	11: 60,369,967 (GRCm39)	D909G	probably damaging	Het
Nefl	A	G	14: 68,321,673 (GRCm39)	T88A	possibly damaging	Het
Nfatc2	T	A	2: 168,378,138 (GRCm39)	N509I	probably damaging	Het
Nkd1	T	C	8: 89,300,902 (GRCm39)		probably benign	Het
Npas2	T	C	1: 39,331,771 (GRCm39)	V62A	possibly damaging	Het
Oas2	T	G	5: 120,873,150 (GRCm39)	D635A	possibly damaging	Het
Obscn	C	T	11: 58,951,712 (GRCm39)	V4014M	possibly damaging	Het
Ogfr	C	A	2: 180,236,200 (GRCm39)	H262N	possibly damaging	Het
Or10aa1	T	G	1: 173,869,683 (GRCm39)	S56A	probably benign	Het
Or8b49	A	T	9: 38,505,821 (GRCm39)	L101F	probably benign	Het
Pa2g4	T	C	10: 128,399,105 (GRCm39)	D104G	probably damaging	Het
Parp11	T	C	6: 127,467,045 (GRCm39)		probably benign	Het
Ppp2r5a	C	T	1: 191,086,959 (GRCm39)	V360I	probably benign	Het
Ptpn13	A	T	5: 103,688,943 (GRCm39)	K912I	probably benign	Het
Sec16a	A	G	2: 26,329,202 (GRCm39)	S938P	probably benign	Het
Slc15a1	A	C	14: 121,724,096 (GRCm39)	I170S	probably damaging	Het
Smchd1	T	C	17: 71,656,695 (GRCm39)	N1924S	probably benign	Het
Sprr4	G	A	3: 92,407,731 (GRCm39)	P24S	unknown	Het
Trim30b	A	T	7: 104,015,102 (GRCm39)	N95K	probably benign	Het
Vmn2r14	T	A	5: 109,363,973 (GRCm39)	I648F	probably damaging	Het
Vmn2r78	T	A	7: 86,569,969 (GRCm39)	C162*	probably null	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
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
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

Posted On

2016-08-02