Mutagenetix > Incidental Mutation

Incidental Mutation 'R9204:Tyw1'

698372

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) question?

Stock #

R9204 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130255619-130341563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 130269224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 202 (R202Q)

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: R202Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037173
Gene: ENSMUSG00000056310
AA Change: R202Q

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: R202Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047318
Gene: ENSMUSG00000056310
AA Change: R202Q

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: R202Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098226
Gene: ENSMUSG00000056310
AA Change: R202Q

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: R179Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123693
Gene: ENSMUSG00000056310
AA Change: R179Q

Domain	Start	End	E-Value	Type
Pfam:Flavodoxin_1	50	201	4.3e-28	PFAM

Meta Mutation Damage Score

0.3244

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	T	A	7: 127,385,160	I257L	unknown	Het
9930021J03Rik	A	G	19: 29,719,538	S852P	possibly damaging	Het
Aadat	T	C	8: 60,543,532	V389A	possibly damaging	Het
Adgrl1	T	C	8: 83,933,890	F792S	probably benign	Het
Angptl2	A	T	2: 33,228,330	I39F	probably benign	Het
Aprt	A	G	8: 122,576,616	I29T	probably damaging	Het
Arhgap21	A	T	2: 20,881,005	S464T	probably damaging	Het
Atic	T	C	1: 71,564,477	Y151H	probably damaging	Het
BB014433	T	C	8: 15,042,623	T77A	unknown	Het
Boc	C	A	16: 44,487,714	C926F		Het
Cabin1	C	T	10: 75,694,716	R1544Q	probably benign	Het
Ccdc33	A	G	9: 58,031,105	V861A	probably benign	Het
Ccdc88c	T	C	12: 100,938,063	T230A	unknown	Het
Cdc42bpa	T	A	1: 180,111,895		probably null	Het
Chrnb2	T	C	3: 89,760,821	M396V	probably benign	Het
Chst2	A	G	9: 95,405,102	V397A	probably damaging	Het
Cit	T	A	5: 115,988,439	N1643K	probably damaging	Het
Ckb	T	A	12: 111,671,435	D113V	probably benign	Het
Cyp2c68	A	T	19: 39,739,127	M136K	probably damaging	Het
Epas1	G	T	17: 86,809,445	R181L	probably damaging	Het
Flnc	A	C	6: 29,452,354	I1726L	possibly damaging	Het
Fras1	G	A	5: 96,735,163	R2518H	probably damaging	Het
Gid4	T	C	11: 60,417,828	V58A	probably benign	Het
Hmcn1	T	A	1: 150,734,511	N1469I	probably benign	Het
Hmcn2	A	G	2: 31,388,365	E1693G	probably damaging	Het
Irx4	C	G	13: 73,268,530	C348W	probably damaging	Het
Lrig2	A	G	3: 104,480,122	S410P	possibly damaging	Het
Lsm11	A	G	11: 45,933,962	V246A	probably benign	Het
Ltbp1	G	T	17: 75,363,430	V1489F	probably damaging	Het
Mc2r	T	C	18: 68,407,596	T209A	probably benign	Het
Mms22l	T	C	4: 24,581,153	L821P	probably damaging	Het
Mtus2	A	T	5: 148,301,483	E1206V	probably damaging	Het
Muc5b	T	A	7: 141,856,392	H1234Q	unknown	Het
Naip5	A	T	13: 100,222,500	F743I	probably damaging	Het
Nphp3	G	A	9: 104,042,106	V1318I	probably benign	Het
Olfr1257	T	G	2: 89,881,138	L104W	probably damaging	Het
Olfr484	A	T	7: 108,124,728	N178K	possibly damaging	Het
Olfr628	A	G	7: 103,732,849	K308E	possibly damaging	Het
Olfr826	G	C	10: 130,180,697	P61R	probably damaging	Het
Olfr844	T	C	9: 19,318,699	L61P	probably damaging	Het
Olfr878	C	A	9: 37,919,374	T239K	probably damaging	Het
Paqr5	G	A	9: 61,961,544	R246C	probably benign	Het
Pdgfb	T	C	15: 80,001,755	Q128R	probably damaging	Het
Prr3	T	A	17: 35,974,727	I88F	possibly damaging	Het
Ptprd	C	G	4: 75,954,078	A1134P	possibly damaging	Het
R3hcc1l	G	A	19: 42,563,862	D433N	probably benign	Het
Scnn1b	A	T	7: 121,899,299	T21S	probably benign	Het
Smcr8	A	G	11: 60,778,031	I2V	probably damaging	Het
Stk33	T	C	7: 109,341,479	D8G	probably benign	Het
Tbc1d22a	T	C	15: 86,214,602	F10L	probably benign	Het
Tmem126a	T	A	7: 90,452,818	I58F	possibly damaging	Het
Ttf2	T	C	3: 100,962,564	K398E	probably benign	Het
Usp53	G	T	3: 122,947,419	N727K	probably benign	Het
Vmn2r25	T	G	6: 123,853,133	I20L	probably benign	Het

Other mutations in Tyw1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02329:Tyw1	APN	5	130267080	missense	probably benign	0.20
IGL02873:Tyw1	APN	5	130335330	missense	probably benign	0.00
IGL02879:Tyw1	APN	5	130296771	missense	probably damaging	1.00
IGL03080:Tyw1	APN	5	130267055	missense	probably damaging	1.00
IGL03291:Tyw1	APN	5	130299993	missense	probably damaging	1.00
IGL03297:Tyw1	APN	5	130340734	missense	probably damaging	1.00
remnant	UTSW	5	130262921	missense	probably damaging	0.99
schimmel	UTSW	5	130269224	missense	probably damaging	1.00
tyrone	UTSW	5	130296679	nonsense	probably null
yang	UTSW	5	130259035	missense	probably damaging	0.98
R1420:Tyw1	UTSW	5	130274745	critical splice donor site	probably null
R1650:Tyw1	UTSW	5	130288911	missense	possibly damaging	0.91
R1674:Tyw1	UTSW	5	130269328	missense	probably benign	0.01
R1789:Tyw1	UTSW	5	130258993	missense	probably damaging	0.99
R1996:Tyw1	UTSW	5	130262811	splice site	probably benign
R2421:Tyw1	UTSW	5	130269260	missense	probably damaging	1.00
R3913:Tyw1	UTSW	5	130259035	missense	probably damaging	0.98
R4412:Tyw1	UTSW	5	130335232	splice site	probably null
R4835:Tyw1	UTSW	5	130277058	missense	probably benign
R5058:Tyw1	UTSW	5	130277086	missense	probably benign	0.03
R5190:Tyw1	UTSW	5	130267915	nonsense	probably null
R5398:Tyw1	UTSW	5	130277157	intron	probably benign
R5459:Tyw1	UTSW	5	130274706	missense	probably damaging	1.00
R5597:Tyw1	UTSW	5	130274657	missense	probably benign	0.00
R5704:Tyw1	UTSW	5	130282022	nonsense	probably null
R5825:Tyw1	UTSW	5	130268088	missense	probably damaging	0.99
R5887:Tyw1	UTSW	5	130325699	missense	probably damaging	1.00
R6072:Tyw1	UTSW	5	130267911	missense	possibly damaging	0.92
R6349:Tyw1	UTSW	5	130277031	missense	possibly damaging	0.82
R6366:Tyw1	UTSW	5	130281951	unclassified	probably benign
R7012:Tyw1	UTSW	5	130277730	splice site	probably null
R7259:Tyw1	UTSW	5	130267872	splice site	probably null
R7328:Tyw1	UTSW	5	130262844	missense	probably benign	0.08
R7555:Tyw1	UTSW	5	130274706	missense	probably damaging	1.00
R8006:Tyw1	UTSW	5	130268072	missense	possibly damaging	0.87
R8171:Tyw1	UTSW	5	130300014	missense	probably benign	0.19
R8196:Tyw1	UTSW	5	130300021	missense	probably damaging	1.00
R8714:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R8715:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R8716:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R8970:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R8992:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R9117:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R9119:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R9120:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R9172:Tyw1	UTSW	5	130296679	nonsense	probably null
R9205:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R9207:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R9325:Tyw1	UTSW	5	130262921	missense	probably damaging	0.99
R9364:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R9368:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R9369:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R9470:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R9471:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R9566:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00
R9567:Tyw1	UTSW	5	130269224	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCCTGGGTTTCTGCAGTG -3'
(R):5'- CAGGATGCAATTCGCCTTG -3'

Sequencing Primer
(F):5'- CTGGAAGCCTGCTTTAGAGGAC -3'
(R):5'- CGCCTCTCCTGGGCCATG -3'

Posted On

2022-02-07