Mutagenetix > Incidental Mutation

Incidental Mutation 'R6908:Tyw5'

538846

Institutional Source

Beutler Lab

Gene Symbol

Tyw5

Ensembl Gene

ENSMUSG00000048495

Gene Name

tRNA-yW synthesizing protein 5

Synonyms

1110034B05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R6908 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57388237-57407101 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57401523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 27 (R27G)

Ref Sequence

ENSEMBL: ENSMUSP00000125427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027114] [ENSMUST00000079998] [ENSMUST00000160118] [ENSMUST00000160837] [ENSMUST00000162686]

AlphaFold

A2RSX7

Predicted Effect

probably benign
Transcript: ENSMUST00000027114

SMART Domains

Protein: ENSMUSP00000027114
Gene: ENSMUSG00000025971

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Blast:Tim44	131	210	3e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000079998
AA Change: R27G

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

SMART Domains

Protein: ENSMUSP00000078912
Gene: ENSMUSG00000048495
AA Change: R27G

Domain	Start	End	E-Value	Type
PDB:3AL6\|D	1	71	3e-39	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000160118
AA Change: R27G

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

SMART Domains

Protein: ENSMUSP00000125386
Gene: ENSMUSG00000048495
AA Change: R27G

Domain	Start	End	E-Value	Type
PDB:3AL6\|D	1	71	1e-38	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000160837
AA Change: R21G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128576
Gene: ENSMUSG00000048495
AA Change: R21G

Domain	Start	End	E-Value	Type
JmjC	103	255	2.25e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162686
AA Change: R27G

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

SMART Domains

Protein: ENSMUSP00000125427
Gene: ENSMUSG00000048495
AA Change: R27G

Domain	Start	End	E-Value	Type
JmjC	105	265	5.8e-3	SMART

Meta Mutation Damage Score

0.1699

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,657,305	I1197T	probably benign	Het
Atp2a1	A	G	7: 126,448,535		probably null	Het
B3glct	T	C	5: 149,696,476		probably null	Het
Bbs9	T	G	9: 22,567,723	I154S	probably damaging	Het
Brip1	T	C	11: 86,077,884	Y825C	probably damaging	Het
Ccdc186	A	T	19: 56,791,939		probably null	Het
Celf6	T	C	9: 59,603,823	V349A	probably benign	Het
Chd9	A	G	8: 90,956,416	T495A	probably benign	Het
Cxxc1	G	A	18: 74,220,559	C546Y	probably damaging	Het
Cxxc5	T	C	18: 35,859,215	V223A	probably damaging	Het
Dlc1	A	G	8: 36,937,687	F316S	probably benign	Het
Dnajc12	C	A	10: 63,397,325	Q82K	probably benign	Het
Dock8	G	A	19: 25,188,382	E1877K	probably damaging	Het
Epha3	T	G	16: 63,598,249	H611P	probably damaging	Het
Fpr-rs6	C	A	17: 20,182,439	C220F	probably damaging	Het
Fryl	A	G	5: 73,022,211	L2951P	probably damaging	Het
Gbp10	T	G	5: 105,221,032	T314P	probably damaging	Het
Hbb-bs	T	C	7: 103,827,534	N77D	probably benign	Het
Ints13	A	T	6: 146,555,033	D438E	probably damaging	Het
Itgb6	C	T	2: 60,650,021	V324M	probably benign	Het
Kdm7a	G	T	6: 39,144,439	L861M	possibly damaging	Het
Kirrel3	A	G	9: 35,013,401	T302A	possibly damaging	Het
Lama2	A	T	10: 27,031,196		probably null	Het
Lrp2	A	T	2: 69,472,365	C3007S	probably damaging	Het
Lypd3	G	C	7: 24,638,433	G75R	probably damaging	Het
Mastl	T	C	2: 23,155,976		probably benign	Het
Mcf2l	T	C	8: 13,018,919	V1087A	probably benign	Het
Mcmdc2	C	A	1: 9,930,778		probably null	Het
Ms4a3	A	G	19: 11,638,295	I39T	probably damaging	Het
Mylk	T	G	16: 34,880,273	C495G	probably benign	Het
Myo10	A	G	15: 25,804,383	D1588G	probably damaging	Het
Myo15	A	T	11: 60,506,006	T2634S	probably damaging	Het
Nlrp1b	T	C	11: 71,217,296	I460V	probably benign	Het
Nmt1	T	G	11: 103,058,254	S312A	possibly damaging	Het
Nynrin	T	G	14: 55,863,878	S335A	probably benign	Het
Olfr710	T	C	7: 106,944,632	Y123C	possibly damaging	Het
Paxip1	T	C	5: 27,791,224	Y19C	possibly damaging	Het
Pcdhb2	G	T	18: 37,296,524	A517S	probably damaging	Het
Pkd2l1	A	G	19: 44,152,446	I559T	probably damaging	Het
Plec	G	A	15: 76,185,881	Q806*	probably null	Het
Prss51	C	T	14: 64,096,152	A70V	probably benign	Het
Psd3	A	T	8: 67,964,177	I356K	probably benign	Het
Ptprn2	A	T	12: 116,888,888	I522F	probably benign	Het
Rab39	T	C	9: 53,706,069	D16G	probably damaging	Het
Ralgps1	T	C	2: 33,143,100	Q439R	probably benign	Het
Rapgef2	A	T	3: 79,104,063	D238E	probably benign	Het
Ripor2	G	A	13: 24,706,232	G697S	probably damaging	Het
Scn11a	A	T	9: 119,792,426	F642I	probably damaging	Het
Serinc4	G	A	2: 121,453,605	T310I	probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 127,021,626		probably benign	Het
Slc36a3	T	C	11: 55,149,886		probably benign	Het
Smc1b	A	G	15: 85,107,010	S656P	probably damaging	Het
Sorbs1	A	G	19: 40,352,332	S455P	probably damaging	Het
Ttn	C	A	2: 76,889,858		probably benign	Het
Vmn1r209	T	C	13: 22,806,230	T97A	possibly damaging	Het

Other mutations in Tyw5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01303:Tyw5	APN	1	57388553	nonsense	probably null
IGL01565:Tyw5	APN	1	57394081	missense	probably damaging	1.00
IGL01675:Tyw5	APN	1	57388632	missense	possibly damaging	0.94
IGL01915:Tyw5	APN	1	57401469	missense	probably damaging	0.99
IGL02320:Tyw5	APN	1	57396725	critical splice donor site	probably null
IGL02427:Tyw5	APN	1	57388725	missense	possibly damaging	0.68
PIT4520001:Tyw5	UTSW	1	57388515	missense	probably damaging	1.00
R0053:Tyw5	UTSW	1	57401438	missense	probably damaging	0.97
R0053:Tyw5	UTSW	1	57401438	missense	probably damaging	0.97
R2421:Tyw5	UTSW	1	57396748	missense	possibly damaging	0.58
R2422:Tyw5	UTSW	1	57396748	missense	possibly damaging	0.58
R2997:Tyw5	UTSW	1	57388641	missense	probably damaging	1.00
R3974:Tyw5	UTSW	1	57391528	missense	probably damaging	1.00
R4235:Tyw5	UTSW	1	57388488	utr 3 prime	probably benign
R4630:Tyw5	UTSW	1	57388527	missense	probably damaging	0.96
R5014:Tyw5	UTSW	1	57406845	start gained	probably benign
R5099:Tyw5	UTSW	1	57388705	missense	probably damaging	0.99
R5162:Tyw5	UTSW	1	57401459	missense	probably damaging	1.00
R6389:Tyw5	UTSW	1	57391499	missense	probably damaging	1.00
R6422:Tyw5	UTSW	1	57401411	missense	probably damaging	0.99
R6524:Tyw5	UTSW	1	57388731	missense	possibly damaging	0.67
R7633:Tyw5	UTSW	1	57393485	missense	probably benign	0.01
R7997:Tyw5	UTSW	1	57388524	missense	probably benign	0.03
R9218:Tyw5	UTSW	1	57396789	missense	probably damaging	0.97
X0018:Tyw5	UTSW	1	57390663	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACTCCACAGAACACAGGGTG -3'
(R):5'- TCAAGTAGAGAGGCCATGGC -3'

Sequencing Primer
(F):5'- ACCTGTGGAAAATGTCTCTGTAC -3'
(R):5'- AGAGGCCATGGCAATACTTATGTTG -3'

Posted On

2018-11-06