Mutagenetix > Incidental Mutation

Incidental Mutation 'R3960:Tprkb'

312051

Institutional Source

Beutler Lab

Gene Symbol

Tprkb

Ensembl Gene

ENSMUSG00000054226

Gene Name

Tp53rk binding protein

Synonyms

0610033G21Rik, 1810034M08Rik, DRWMS1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R3960 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85888847-85907266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85905783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 156 (E156G)

Ref Sequence

ENSEMBL: ENSMUSP00000144160 (fasta)

Gene Model

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

AlphaFold

Q8QZZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000067137
AA Change: E156G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000063927
Gene: ENSMUSG00000054226
AA Change: E156G

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 benign
Transcript: ENSMUST00000113752
AA Change: E156G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109381
Gene: ENSMUSG00000054226
AA Change: E156G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113753
AA Change: E156G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109382
Gene: ENSMUSG00000054226
AA Change: E156G

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

probably benign
Transcript: ENSMUST00000200680
AA Change: E156G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000144160
Gene: ENSMUSG00000054226
AA Change: E156G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201217

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 benign
Transcript: ENSMUST00000202803

SMART Domains

Protein: ENSMUSP00000144660
Gene: ENSMUSG00000054226

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

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Celf4	A	G	18: 25,670,811 (GRCm39)	M124T	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Etl4	A	G	2: 20,344,854 (GRCm39)	T53A	probably benign	Het
Hao1	A	C	2: 134,364,903 (GRCm39)		probably null	Het
Hmgcs2	T	C	3: 98,204,793 (GRCm39)	F317S	possibly damaging	Het
Ildr2	T	A	1: 166,136,909 (GRCm39)	W564R	probably damaging	Het
Impg1	G	T	9: 80,322,917 (GRCm39)	F29L	probably benign	Het
Itgam	T	C	7: 127,714,347 (GRCm39)	V834A	probably benign	Het
Itpr2	C	T	6: 146,327,008 (GRCm39)	V120I	probably damaging	Het
Itpr2	T	C	6: 146,131,262 (GRCm39)	N1948D	probably damaging	Het
Katnb1	T	C	8: 95,813,925 (GRCm39)	V17A	possibly damaging	Het
Nipbl	T	C	15: 8,380,018 (GRCm39)	N925D	probably benign	Het
Oasl2	T	C	5: 115,043,098 (GRCm39)	V70A	probably benign	Het
Panx1	GTTCTTCT	GTTCT	9: 14,917,467 (GRCm39)		probably benign	Het
Pcdh10	A	G	3: 45,333,749 (GRCm39)	H21R	probably benign	Het
Prkg2	G	T	5: 99,145,354 (GRCm39)	T160K	possibly damaging	Het
Sec23ip	C	G	7: 128,378,574 (GRCm39)	T796S	probably benign	Het
Smarcd2	A	G	11: 106,157,401 (GRCm39)	S182P	probably damaging	Het
Tbrg4	A	G	11: 6,568,077 (GRCm39)	S484P	probably benign	Het
Zfp647	A	G	15: 76,795,176 (GRCm39)		probably null	Het

Other mutations in Tprkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02133:Tprkb	APN	6	85,904,893 (GRCm39)	missense	probably benign	0.00
IGL02981:Tprkb	APN	6	85,904,861 (GRCm39)	missense	probably benign	0.01
IGL03102:Tprkb	APN	6	85,901,400 (GRCm39)	missense	probably benign	0.04
F5770:Tprkb	UTSW	6	85,905,764 (GRCm39)	missense	probably damaging	0.96
R0491:Tprkb	UTSW	6	85,901,446 (GRCm39)	missense	probably benign	0.02
R1456:Tprkb	UTSW	6	85,901,403 (GRCm39)	missense	probably damaging	0.97
R2007:Tprkb	UTSW	6	85,910,030 (GRCm39)	unclassified	probably benign
R2088:Tprkb	UTSW	6	85,909,922 (GRCm39)	unclassified	probably benign
R6153:Tprkb	UTSW	6	85,893,172 (GRCm39)	splice site	probably null
R7584:Tprkb	UTSW	6	85,905,809 (GRCm39)	missense	probably benign
V7581:Tprkb	UTSW	6	85,905,764 (GRCm39)	missense	probably damaging	0.96
V7582:Tprkb	UTSW	6	85,905,764 (GRCm39)	missense	probably damaging	0.96
V7583:Tprkb	UTSW	6	85,905,764 (GRCm39)	missense	probably damaging	0.96
X0064:Tprkb	UTSW	6	85,905,784 (GRCm39)	missense	probably benign
X0064:Tprkb	UTSW	6	85,905,782 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- ATGACAAATTGCCAACAACTTTGA -3'
(R):5'- CAATCCAATACAAGATAAAGTGAGGG -3'

Sequencing Primer
(F):5'- ATAGTAGCACGTGGACAC -3'
(R):5'- CCGGCTTTCTGTTGACAT -3'

Posted On

2015-04-29