Mutagenetix > Incidental Mutations

Incidental Mutation 'V7583:Tprkb'

152648

Institutional Source

Beutler Lab

Gene Symbol

Tprkb

Ensembl Gene

ENSMUSG00000054226

Gene Name

Tp53rk binding protein

Synonyms

1810034M08Rik, DRWMS1, 0610033G21Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

V7583 () of strain stinger

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85911865-85930284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85928782 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 150 (K150E)

Ref Sequence

ENSEMBL: ENSMUSP00000144160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067137] [ENSMUST00000089570] [ENSMUST00000113751] [ENSMUST00000113752] [ENSMUST00000113753] [ENSMUST00000149026] [ENSMUST00000200680] [ENSMUST00000201939] [ENSMUST00000202803]

Predicted Effect

probably damaging
Transcript: ENSMUST00000067137
AA Change: K150E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000063927
Gene: ENSMUSG00000054226
AA Change: K150E

Domain	Start	End	E-Value	Type
Pfam:CGI-121	20	172	1.2e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089570

SMART Domains

Protein: ENSMUSP00000086998
Gene: ENSMUSG00000054226

Domain	Start	End	E-Value	Type
Pfam:CGI-121	20	150	8.6e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113751

SMART Domains

Protein: ENSMUSP00000109380
Gene: ENSMUSG00000054226

Domain	Start	End	E-Value	Type
Pfam:CGI-121	20	91	1.2e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113752
AA Change: K150E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109381
Gene: ENSMUSG00000054226
AA Change: K150E

Domain	Start	End	E-Value	Type
Pfam:CGI-121	20	172	1.3e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113753
AA Change: K150E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109382
Gene: ENSMUSG00000054226
AA Change: K150E

Domain	Start	End	E-Value	Type
Pfam:CGI-121	20	172	1.2e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149026

SMART Domains

Protein: ENSMUSP00000117259
Gene: ENSMUSG00000054226

Domain	Start	End	E-Value	Type
Pfam:CGI-121	20	132	1.4e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150249

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162660

SMART Domains

Protein: ENSMUSP00000124315
Gene: ENSMUSG00000089634

Domain	Start	End	E-Value	Type
low complexity region	46	66	N/A	INTRINSIC
Pfam:Acetyltransf_10	84	203	4.6e-11	PFAM
Pfam:Acetyltransf_4	87	214	2.8e-8	PFAM
Pfam:Acetyltransf_7	115	205	1.7e-12	PFAM
Pfam:Acetyltransf_1	122	204	1.5e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000200680
AA Change: K150E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144160
Gene: ENSMUSG00000054226
AA Change: K150E

Domain	Start	End	E-Value	Type
Pfam:CGI-121	20	172	1.3e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201217

Predicted Effect

probably benign
Transcript: ENSMUST00000201939

SMART Domains

Protein: ENSMUSP00000144588
Gene: ENSMUSG00000054226

Domain	Start	End	E-Value	Type
Pfam:CGI-121	20	110	9.4e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202803

SMART Domains

Protein: ENSMUSP00000144660
Gene: ENSMUSG00000054226

Domain	Start	End	E-Value	Type
Pfam:CGI-121	20	149	1.6e-40	PFAM

Meta Mutation Damage Score

0.5269

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,701,257	H102L	possibly damaging	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Cdc42bpb	C	T	12: 111,296,391	G1501S	probably benign	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dcaf4	C	A	12: 83,537,701		probably null	Het
Dnajc22	T	A	15: 99,101,482	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,897,126	Q295*	probably null	Het
Erv3	T	C	2: 131,855,926	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865	T249A	probably benign	Het
Fcgr1	T	C	3: 96,284,276	*405W	probably null	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Golga4	A	G	9: 118,556,075	E727G	possibly damaging	Het
Hnrnpab	A	T	11: 51,602,624	N252K	probably benign	Het
Ing1	T	C	8: 11,561,934	V124A	probably damaging	Het
Izumo4	A	T	10: 80,703,891	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Mbd5	A	G	2: 49,316,410	D1713G	probably damaging	Het
Muc6	T	G	7: 141,647,613	E808A	probably benign	Het
Mylk	G	T	16: 34,995,204		probably null	Het
Nbeal2	A	G	9: 110,637,937	V670A	possibly damaging	Het
Nphp3	T	C	9: 104,035,894		probably null	Het
Numbl	T	C	7: 27,279,602	S379P	probably benign	Het
Otop3	T	A	11: 115,344,838	L432Q	probably damaging	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pigx	T	C	16: 32,087,422	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,654,618	T112A	probably benign	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Ror1	A	G	4: 100,440,933	Q501R	probably damaging	Het
Sirpb1b	A	G	3: 15,503,183	V366A	probably benign	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Toe1	A	T	4: 116,806,111	N56K	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060	V86A	probably benign	Het
Vps18	A	G	2: 119,297,228	Y844C	probably benign	Het
Wdr60	A	C	12: 116,211,840	S906A	possibly damaging	Het
Wdr72	T	A	9: 74,157,270	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,826,470	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	probably null	Het

Other mutations in Tprkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02133:Tprkb	APN	6	85927911	missense	probably benign	0.00
IGL02981:Tprkb	APN	6	85927879	missense	probably benign	0.01
IGL03102:Tprkb	APN	6	85924418	missense	probably benign	0.04
F5770:Tprkb	UTSW	6	85928782	missense	probably damaging	0.96
R0491:Tprkb	UTSW	6	85924464	missense	probably benign	0.02
R1456:Tprkb	UTSW	6	85924421	missense	probably damaging	0.97
R2007:Tprkb	UTSW	6	85933048	unclassified	probably benign
R2088:Tprkb	UTSW	6	85932940	unclassified	probably benign
R3960:Tprkb	UTSW	6	85928801	missense	probably benign	0.02
R6153:Tprkb	UTSW	6	85916190	splice site	probably null
R7584:Tprkb	UTSW	6	85928827	missense	probably benign
V7581:Tprkb	UTSW	6	85928782	missense	probably damaging	0.96
V7582:Tprkb	UTSW	6	85928782	missense	probably damaging	0.96
X0064:Tprkb	UTSW	6	85928800	missense	probably benign	0.39
X0064:Tprkb	UTSW	6	85928802	missense	probably benign

Predicted Primers

Posted On

2014-01-29