Mutagenetix > Incidental Mutation

Incidental Mutation 'R9218:Tyw5'

699286

Institutional Source

Beutler Lab

Gene Symbol

Tyw5

Ensembl Gene

ENSMUSG00000048495

Gene Name

tRNA-yW synthesizing protein 5

Synonyms

1110034B05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R9218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57427394-57445833 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57435948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 81 (P81S)

Ref Sequence

ENSEMBL: ENSMUSP00000125427 (fasta)

Gene Model

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

AlphaFold

A2RSX7

Predicted Effect

silent
Transcript: ENSMUST00000079998

SMART Domains

Protein: ENSMUSP00000078912
Gene: ENSMUSG00000048495

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

Predicted Effect

silent
Transcript: ENSMUST00000160118

SMART Domains

Protein: ENSMUSP00000125386
Gene: ENSMUSG00000048495

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

Predicted Effect

silent
Transcript: ENSMUST00000160837

SMART Domains

Protein: ENSMUSP00000128576
Gene: ENSMUSG00000048495

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162686
AA Change: P81S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125427
Gene: ENSMUSG00000048495
AA Change: P81S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (57/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,610,460 (GRCm39)	T378A	probably damaging	Het
Abcb4	A	G	5: 8,977,960 (GRCm39)	M513V	probably benign	Het
Abhd18	T	C	3: 40,871,201 (GRCm39)		probably null	Het
Adamtsl4	A	T	3: 95,588,404 (GRCm39)	Y561*	probably null	Het
Alx4	T	A	2: 93,473,172 (GRCm39)	F57I	possibly damaging	Het
Ap3b1	A	G	13: 94,584,959 (GRCm39)		probably null	Het
Arsj	A	C	3: 126,232,114 (GRCm39)	N287H	probably benign	Het
Bltp3a	T	A	17: 28,114,529 (GRCm39)	C1387S	probably benign	Het
Cabp4	T	A	19: 4,188,693 (GRCm39)		probably null	Het
Cdcp3	C	T	7: 130,863,728 (GRCm39)	H1244Y	unknown	Het
Cdh6	T	C	15: 13,057,556 (GRCm39)	N255S	probably null	Het
Ctrb1	C	T	8: 112,416,140 (GRCm39)	V49M	probably damaging	Het
Cts3	A	G	13: 61,716,583 (GRCm39)	S18P	possibly damaging	Het
Dcst1	A	T	3: 89,272,412 (GRCm39)	I17N	probably benign	Het
Dennd5a	G	A	7: 109,507,592 (GRCm39)	H823Y	probably damaging	Het
Dmrt2	T	G	19: 25,651,066 (GRCm39)	L84R	possibly damaging	Het
Dock9	G	T	14: 121,905,871 (GRCm39)	T93K	probably damaging	Het
Fsip2	C	T	2: 82,823,062 (GRCm39)	P6265L	probably damaging	Het
Fxn	T	A	19: 24,239,388 (GRCm39)	K168M	probably damaging	Het
Hc	A	G	2: 34,922,203 (GRCm39)	L541P	probably damaging	Het
Hsd3b5	T	C	3: 98,526,354 (GRCm39)	H364R	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Inf2	G	A	12: 112,567,858 (GRCm39)	D163N	possibly damaging	Het
Iqcd	C	T	5: 120,738,707 (GRCm39)	P175L	possibly damaging	Het
Iqck	C	T	7: 118,540,902 (GRCm39)	A267V	probably damaging	Het
Kcnh1	A	T	1: 192,135,938 (GRCm39)	N66I	unknown	Het
Kif16b	T	A	2: 142,541,583 (GRCm39)	E1239V	possibly damaging	Het
Mctp1	A	G	13: 76,871,816 (GRCm39)	D362G	possibly damaging	Het
Muc5ac	T	A	7: 141,361,098 (GRCm39)	S1470T	probably damaging	Het
Neb	A	G	2: 52,183,638 (GRCm39)		probably null	Het
Odc1	T	A	12: 17,598,312 (GRCm39)	L151*	probably null	Het
Or4e1	A	T	14: 52,700,788 (GRCm39)	V226E	probably damaging	Het
Or51f23c-ps1	T	C	7: 102,431,373 (GRCm39)	I230T	possibly damaging	Het
Otof	T	A	5: 30,542,469 (GRCm39)	Q693L	probably benign	Het
Pitpnm2	G	A	5: 124,265,344 (GRCm39)	S753F	probably damaging	Het
Pkd1l3	C	A	8: 110,382,128 (GRCm39)	S1632*	probably null	Het
Pkhd1l1	A	G	15: 44,384,122 (GRCm39)	T1171A	possibly damaging	Het
Plpp2	A	G	10: 79,366,501 (GRCm39)	F104L	probably damaging	Het
Pmaip1	A	G	18: 66,596,370 (GRCm39)	R80G	probably damaging	Het
Pms2	G	A	5: 143,867,945 (GRCm39)	V850I	probably benign	Het
Psmd5	G	T	2: 34,747,794 (GRCm39)	Q288K	probably benign	Het
Rab37	G	A	11: 115,051,475 (GRCm39)	R194H	probably damaging	Het
Sds	C	T	5: 120,621,677 (GRCm39)	A273V	probably damaging	Het
Sema4f	A	G	6: 82,890,480 (GRCm39)	S776P	probably benign	Het
Sh3tc2	T	C	18: 62,101,101 (GRCm39)	C65R	probably benign	Het
Siglece	C	T	7: 43,307,162 (GRCm39)	R275H	possibly damaging	Het
Slc6a12	G	A	6: 121,335,623 (GRCm39)	A318T	probably damaging	Het
Smcr8	A	T	11: 60,670,705 (GRCm39)	I618L	probably benign	Het
Stt3a	A	G	9: 36,670,556 (GRCm39)	F72L	probably damaging	Het
Tecpr1	T	C	5: 144,154,049 (GRCm39)	K135E	possibly damaging	Het
Tmem62	A	G	2: 120,835,224 (GRCm39)	I516M	probably benign	Het
Tnpo2	C	A	8: 85,776,609 (GRCm39)	H439N	possibly damaging	Het
Tut4	A	T	4: 108,370,083 (GRCm39)	K661*	probably null	Het
Txlnb	C	T	10: 17,718,570 (GRCm39)	S467F	probably damaging	Het
Vamp2	A	G	11: 68,980,585 (GRCm39)	D51G	possibly damaging	Het
Vmn1r220	T	A	13: 23,368,609 (GRCm39)	Y29F	probably benign	Het
Vmn2r80	A	G	10: 79,030,270 (GRCm39)	T699A	possibly damaging	Het
Vps9d1	G	A	8: 123,977,674 (GRCm39)	T87I	probably benign	Het
Zfhx3	T	C	8: 109,520,501 (GRCm39)	V541A	probably benign	Het
Zmym4	A	T	4: 126,809,415 (GRCm39)	L295Q	probably damaging	Het

Other mutations in Tyw5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01303:Tyw5	APN	1	57,427,712 (GRCm39)	nonsense	probably null
IGL01565:Tyw5	APN	1	57,433,240 (GRCm39)	missense	probably damaging	1.00
IGL01675:Tyw5	APN	1	57,427,791 (GRCm39)	missense	possibly damaging	0.94
IGL01915:Tyw5	APN	1	57,440,628 (GRCm39)	missense	probably damaging	0.99
IGL02320:Tyw5	APN	1	57,435,884 (GRCm39)	critical splice donor site	probably null
IGL02427:Tyw5	APN	1	57,427,884 (GRCm39)	missense	possibly damaging	0.68
PIT4520001:Tyw5	UTSW	1	57,427,674 (GRCm39)	missense	probably damaging	1.00
R0053:Tyw5	UTSW	1	57,440,597 (GRCm39)	missense	probably damaging	0.97
R0053:Tyw5	UTSW	1	57,440,597 (GRCm39)	missense	probably damaging	0.97
R2421:Tyw5	UTSW	1	57,435,907 (GRCm39)	missense	possibly damaging	0.58
R2422:Tyw5	UTSW	1	57,435,907 (GRCm39)	missense	possibly damaging	0.58
R2997:Tyw5	UTSW	1	57,427,800 (GRCm39)	missense	probably damaging	1.00
R3974:Tyw5	UTSW	1	57,430,687 (GRCm39)	missense	probably damaging	1.00
R4235:Tyw5	UTSW	1	57,427,647 (GRCm39)	utr 3 prime	probably benign
R4630:Tyw5	UTSW	1	57,427,686 (GRCm39)	missense	probably damaging	0.96
R5014:Tyw5	UTSW	1	57,446,004 (GRCm39)	start gained	probably benign
R5099:Tyw5	UTSW	1	57,427,864 (GRCm39)	missense	probably damaging	0.99
R5162:Tyw5	UTSW	1	57,440,618 (GRCm39)	missense	probably damaging	1.00
R6389:Tyw5	UTSW	1	57,430,658 (GRCm39)	missense	probably damaging	1.00
R6422:Tyw5	UTSW	1	57,440,570 (GRCm39)	missense	probably damaging	0.99
R6524:Tyw5	UTSW	1	57,427,890 (GRCm39)	missense	possibly damaging	0.67
R6908:Tyw5	UTSW	1	57,440,682 (GRCm39)	missense	probably damaging	1.00
R7633:Tyw5	UTSW	1	57,432,644 (GRCm39)	missense	probably benign	0.01
R7997:Tyw5	UTSW	1	57,427,683 (GRCm39)	missense	probably benign	0.03
X0018:Tyw5	UTSW	1	57,429,822 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTCCTTTTCAAACAAGTCCAC -3'
(R):5'- TGACCTTTGAAGATCCATCTGTACC -3'

Sequencing Primer
(F):5'- AGGAAGTTCCCTGGAGCCTATTC -3'
(R):5'- GGATTCCATCCATGTGGAT -3'

Posted On

2022-02-07