Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02981:Tprkb'

406551

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02981

Quality Score

Status

Chromosome

Chromosomal Location

85888847-85907266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85904861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 112 (D112E)

Ref Sequence

ENSEMBL: ENSMUSP00000144660 (fasta)

Gene Model

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

AlphaFold

Q8QZZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000067137
AA Change: D112E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000063927
Gene: ENSMUSG00000054226
AA Change: D112E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000089570
AA Change: D112E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000086998
Gene: ENSMUSG00000054226
AA Change: D112E

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: D112E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109381
Gene: ENSMUSG00000054226
AA Change: D112E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113753
AA Change: D112E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109382
Gene: ENSMUSG00000054226
AA Change: D112E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149026
AA Change: D112E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117259
Gene: ENSMUSG00000054226
AA Change: D112E

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: ENSMUST00000202803
AA Change: D112E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000144660
Gene: ENSMUSG00000054226
AA Change: D112E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200680
AA Change: D112E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144160
Gene: ENSMUSG00000054226
AA Change: D112E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201939
AA Change: D106E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000144588
Gene: ENSMUSG00000054226
AA Change: D106E

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

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

noncoding transcript
Transcript: ENSMUST00000201217

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	G	2: 150,675,044 (GRCm39)	S392P	probably benign	Het
Adam23	G	A	1: 63,610,112 (GRCm39)	V705I	probably damaging	Het
Ank2	T	G	3: 126,728,211 (GRCm39)	D794A	possibly damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aqr	T	C	2: 113,965,305 (GRCm39)		probably benign	Het
Atp9b	A	G	18: 80,797,504 (GRCm39)	V857A	possibly damaging	Het
Banp	T	C	8: 122,705,303 (GRCm39)	Y58H	possibly damaging	Het
Cacna1e	T	A	1: 154,347,171 (GRCm39)	N999Y	probably benign	Het
Cd14	T	C	18: 36,859,532 (GRCm39)		probably benign	Het
Crmp1	T	C	5: 37,443,770 (GRCm39)	I447T	probably damaging	Het
Dip2a	A	G	10: 76,112,255 (GRCm39)	V1090A	possibly damaging	Het
Ep400	T	A	5: 110,903,969 (GRCm39)	H210L	possibly damaging	Het
Ep400	T	A	5: 110,839,476 (GRCm39)		probably benign	Het
Fam243	T	C	16: 92,117,757 (GRCm39)	N177S	probably benign	Het
Fbxw26	A	G	9: 109,573,862 (GRCm39)	F97L	probably benign	Het
Fut8	C	A	12: 77,521,812 (GRCm39)	P484T	probably damaging	Het
Golph3	A	G	15: 12,349,550 (GRCm39)	E190G	probably benign	Het
Hectd1	A	T	12: 51,815,670 (GRCm39)	D1472E	possibly damaging	Het
Hnrnpdl	T	C	5: 100,184,958 (GRCm39)	I298V	possibly damaging	Het
Jakmip2	C	A	18: 43,695,595 (GRCm39)		probably null	Het
Kcnj5	G	A	9: 32,233,877 (GRCm39)	T146I	probably damaging	Het
Lyst	T	G	13: 13,809,496 (GRCm39)	F389V	probably damaging	Het
Myo1b	A	G	1: 51,817,532 (GRCm39)	S577P	probably damaging	Het
Myo3b	T	C	2: 69,938,969 (GRCm39)	V114A	probably damaging	Het
Or10a2	C	A	7: 106,673,758 (GRCm39)	T241N	probably damaging	Het
Pappa2	C	T	1: 158,678,714 (GRCm39)	G901R	probably benign	Het
Patz1	T	C	11: 3,240,656 (GRCm39)	Y15H	probably damaging	Het
Pdp2	T	C	8: 105,320,267 (GRCm39)	W39R	probably benign	Het
Poc5	T	C	13: 96,538,265 (GRCm39)		probably null	Het
Pou3f1	A	G	4: 124,552,236 (GRCm39)	D246G	probably damaging	Het
Pramel5	T	A	4: 143,999,430 (GRCm39)	Y219F	probably benign	Het
Prrc2c	C	T	1: 162,532,748 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,676,670 (GRCm39)	K678E	probably damaging	Het
Rps2	T	C	17: 24,940,698 (GRCm39)	F271L	probably benign	Het
Serpina3k	C	A	12: 104,307,250 (GRCm39)	Q161K	probably benign	Het
Serpinb6b	A	G	13: 33,155,589 (GRCm39)	T101A	probably benign	Het
Tubal3	A	G	13: 3,983,257 (GRCm39)	T346A	probably benign	Het
Vwde	A	G	6: 13,193,112 (GRCm39)	F409S	possibly damaging	Het
Zbtb6	G	A	2: 37,319,176 (GRCm39)	Q251*	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
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
R3960:Tprkb	UTSW	6	85,905,783 (GRCm39)	missense	probably benign	0.02
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

Posted On

2016-08-02