Mutagenetix > Incidental Mutation

Incidental Mutation 'R1348:Tyw3'

156555

Institutional Source

Beutler Lab

Gene Symbol

Tyw3

Ensembl Gene

ENSMUSG00000047583

Gene Name

tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)

Synonyms

5230400J09Rik

MMRRC Submission

039413-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R1348 (G1)

Quality Score

126

Status

Not validated

Chromosome

Chromosomal Location

154282157-154302750 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 154299451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 86 (M86R)

Ref Sequence

ENSEMBL: ENSMUSP00000057828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029850] [ENSMUST00000052774] [ENSMUST00000122976] [ENSMUST00000135723] [ENSMUST00000140644] [ENSMUST00000144764] [ENSMUST00000170461] [ENSMUST00000184537] [ENSMUST00000155385] [ENSMUST00000192462] [ENSMUST00000194876] [ENSMUST00000155232]

AlphaFold

Q8BSA9

Predicted Effect

probably benign
Transcript: ENSMUST00000029850

SMART Domains

Protein: ENSMUSP00000029850
Gene: ENSMUSG00000028199

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	131	3.3e-14	PFAM
Pfam:ADH_zinc_N	160	290	1.3e-30	PFAM
Pfam:ADH_zinc_N_2	192	329	1.7e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052774
AA Change: M86R

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000057828
Gene: ENSMUSG00000047583
AA Change: M86R

Domain	Start	End	E-Value	Type
Pfam:TYW3	9	194	8.1e-61	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122976
AA Change: M109R

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114437
Gene: ENSMUSG00000047583
AA Change: M109R

Domain	Start	End	E-Value	Type
Pfam:TYW3	31	149	4.4e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135723

SMART Domains

Protein: ENSMUSP00000143311
Gene: ENSMUSG00000028199

Domain	Start	End	E-Value	Type
PDB:1YB5\|B	1	38	5e-17	PDB
SCOP:d1qora1	9	38	9e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140644

SMART Domains

Protein: ENSMUSP00000115146
Gene: ENSMUSG00000028199

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	98	1.5e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144764

SMART Domains

Protein: ENSMUSP00000121269
Gene: ENSMUSG00000028199

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	132	2.6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148680

Predicted Effect

probably benign
Transcript: ENSMUST00000170461
AA Change: M86R

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131461
Gene: ENSMUSG00000047583
AA Change: M86R

Domain	Start	End	E-Value	Type
Pfam:TYW3	8	144	8.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184537

SMART Domains

Protein: ENSMUSP00000139387
Gene: ENSMUSG00000028199

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	180	4.7e-17	PFAM
Pfam:ADH_zinc_N	160	218	5.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155385

SMART Domains

Protein: ENSMUSP00000122619
Gene: ENSMUSG00000028199

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	130	2.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192462

SMART Domains

Protein: ENSMUSP00000142105
Gene: ENSMUSG00000028199

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	131	2.8e-16	PFAM
Pfam:ADH_zinc_N	160	290	1.8e-29	PFAM
Pfam:ADH_zinc_N_2	192	329	4.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194876

SMART Domains

Protein: ENSMUSP00000142101
Gene: ENSMUSG00000028199

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	139	2.2e-14	PFAM
Pfam:ADH_zinc_N	160	290	1.4e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155232

SMART Domains

Protein: ENSMUSP00000118449
Gene: ENSMUSG00000028199

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	135	3.5e-17	PFAM

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.2%
20x: 87.2%

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 at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW3 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,593,212 (GRCm39)		probably null	Het
Art1	G	A	7: 101,756,579 (GRCm39)	A33T	possibly damaging	Het
Aspa	G	A	11: 73,215,309 (GRCm39)	T2I	probably damaging	Het
Cntn1	C	T	15: 92,212,544 (GRCm39)	T902I	probably damaging	Het
Dpep1	G	A	8: 123,925,899 (GRCm39)	C118Y	probably benign	Het
Garin1a	A	G	6: 29,283,284 (GRCm39)	H36R	probably benign	Het
Gucy2g	C	T	19: 55,211,338 (GRCm39)	V631I	possibly damaging	Het
Igf1r	C	G	7: 67,868,216 (GRCm39)	N1220K	probably damaging	Het
Insr	A	T	8: 3,242,635 (GRCm39)	I28N	probably damaging	Het
Katnal2	T	C	18: 77,066,238 (GRCm39)		probably null	Het
Klrb1a	T	C	6: 128,586,797 (GRCm39)	D156G	possibly damaging	Het
Kpna6	G	A	4: 129,555,152 (GRCm39)	R26*	probably null	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Naa15	C	G	3: 51,373,091 (GRCm39)	C661W	probably damaging	Het
Or10g7	T	C	9: 39,905,124 (GRCm39)	I6T	probably benign	Het
Or1e1	G	T	11: 73,244,682 (GRCm39)	M34I	probably benign	Het
Or8g20	A	G	9: 39,396,532 (GRCm39)	S3P	probably benign	Het
Paxbp1	A	G	16: 90,831,904 (GRCm39)	V328A	probably damaging	Het
Pkd1l1	T	C	11: 8,784,806 (GRCm39)	T1993A	probably benign	Het
Pold1	C	T	7: 44,184,106 (GRCm39)	V865I	probably benign	Het
Racgap1	A	G	15: 99,524,246 (GRCm39)	I387T	possibly damaging	Het
Rbm15	G	T	3: 107,239,946 (GRCm39)	R151S	possibly damaging	Het
Rbms2	C	T	10: 128,012,214 (GRCm39)		probably null	Het
Recql4	A	G	15: 76,593,411 (GRCm39)	I140T	probably benign	Het
Shld2	T	A	14: 33,990,880 (GRCm39)	I9F	probably damaging	Het
Sorl1	A	T	9: 41,911,708 (GRCm39)		probably null	Het
Speg	G	A	1: 75,399,516 (GRCm39)	G2321D	probably damaging	Het
Trp53tg5	A	G	2: 164,315,521 (GRCm39)		probably null	Het
Vmn1r11	G	A	6: 57,114,963 (GRCm39)	C209Y	probably benign	Het
Zfp472	T	A	17: 33,196,794 (GRCm39)	F290I	probably benign	Het

Other mutations in Tyw3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02444:Tyw3	APN	3	154,302,626 (GRCm39)	missense	probably damaging	0.98
IGL03226:Tyw3	APN	3	154,293,187 (GRCm39)	missense	possibly damaging	0.82
R0211:Tyw3	UTSW	3	154,293,132 (GRCm39)	missense	probably damaging	1.00
R0211:Tyw3	UTSW	3	154,293,132 (GRCm39)	missense	probably damaging	1.00
R1443:Tyw3	UTSW	3	154,293,160 (GRCm39)	missense	probably benign	0.01
R1538:Tyw3	UTSW	3	154,302,506 (GRCm39)	missense	probably damaging	0.98
R4289:Tyw3	UTSW	3	154,302,645 (GRCm39)	missense	probably damaging	1.00
R5279:Tyw3	UTSW	3	154,300,108 (GRCm39)	missense	probably damaging	0.99
R6090:Tyw3	UTSW	3	154,302,704 (GRCm39)	missense	probably benign	0.01
R6982:Tyw3	UTSW	3	154,285,867 (GRCm39)	missense	probably benign	0.01
R7079:Tyw3	UTSW	3	154,299,426 (GRCm39)	missense	probably benign	0.04
R7080:Tyw3	UTSW	3	154,299,426 (GRCm39)	missense	probably benign	0.04
R7090:Tyw3	UTSW	3	154,299,426 (GRCm39)	missense	probably benign	0.04
R9774:Tyw3	UTSW	3	154,302,584 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGAAATCCACATGAATCCTCCCG -3'
(R):5'- TGTGGCTGGTTCCAGCATTCTC -3'

Sequencing Primer
(F):5'- TTACTTTCCCAGAGATGACCG -3'
(R):5'- CCTTCATAGGCTCCACAGG -3'

Posted On

2014-02-11