Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02133:Tprkb'

281070

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tprkb

Ensembl Gene

ENSMUSG00000054226

Gene Name

Tp53rk binding protein

Synonyms

1810034M08Rik, DRWMS1, 0610033G21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

IGL02133

Quality Score

Status

Chromosome

Chromosomal Location

85911865-85930284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85927911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 123 (V123A)

Ref Sequence

ENSEMBL: ENSMUSP00000144660 (fasta)

Gene Model

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

AlphaFold

Q8QZZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000067137
AA Change: V123A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000063927
Gene: ENSMUSG00000054226
AA Change: V123A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000089570
AA Change: V123A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000086998
Gene: ENSMUSG00000054226
AA Change: V123A

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: V123A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109381
Gene: ENSMUSG00000054226
AA Change: V123A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113753
AA Change: V123A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109382
Gene: ENSMUSG00000054226
AA Change: V123A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149026
AA Change: V123A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117259
Gene: ENSMUSG00000054226
AA Change: V123A

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 benign
Transcript: ENSMUST00000200680
AA Change: V123A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144160
Gene: ENSMUSG00000054226
AA Change: V123A

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
AA Change: V123A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000144660
Gene: ENSMUSG00000054226
AA Change: V123A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,232,967	Q165L	probably benign	Het
9530068E07Rik	G	T	11: 52,403,510	A193S	probably damaging	Het
Adam4	A	G	12: 81,420,029	V606A	probably benign	Het
Atp2c2	A	G	8: 119,754,335	I821V	probably benign	Het
Bmi1	A	T	2: 18,683,677	R160W	probably damaging	Het
Ccdc88c	G	A	12: 100,940,090	R1062C	probably damaging	Het
Cntnap3	A	T	13: 64,751,673		probably benign	Het
Col20a1	C	T	2: 181,007,144	T940I	probably damaging	Het
Csmd3	A	C	15: 47,857,942	M1535R	possibly damaging	Het
Dhx38	C	A	8: 109,558,241	E487*	probably null	Het
Fam186b	A	G	15: 99,273,703	S888P	probably damaging	Het
Fancm	G	A	12: 65,106,475	G1235D	probably benign	Het
Grin3a	C	T	4: 49,792,946	W262*	probably null	Het
Gtdc1	A	T	2: 44,575,443	M305K	probably damaging	Het
H2-M9	T	C	17: 36,641,737	E139G	possibly damaging	Het
Haus1	A	T	18: 77,766,911	L53Q	probably damaging	Het
Hgfac	A	G	5: 35,046,587	Y483C	probably damaging	Het
Hipk2	C	T	6: 38,819,134	V67I	probably benign	Het
Kbtbd8	T	C	6: 95,121,732		probably benign	Het
Kndc1	A	G	7: 139,920,767	T683A	probably benign	Het
Ldhb	A	T	6: 142,492,500	M277K	probably benign	Het
Mgam	T	C	6: 40,643,076	L33P	probably damaging	Het
Ndst1	A	G	18: 60,699,546	F571L	probably benign	Het
Neb	G	T	2: 52,212,804		probably null	Het
Nrxn1	A	G	17: 90,643,243	S503P	probably damaging	Het
Paqr3	A	G	5: 97,095,931	V308A	probably benign	Het
Scnn1g	T	C	7: 121,743,699	F292L	probably damaging	Het
Stk3	A	G	15: 35,099,516	F88S	probably damaging	Het
Tcaf2	T	A	6: 42,627,396	E683V	probably benign	Het
Ush2a	T	C	1: 188,443,343	Y1213H	probably damaging	Het
Vwa5b1	A	G	4: 138,586,557		probably null	Het
Wls	A	G	3: 159,897,370	Y140C	probably damaging	Het
Zan	A	G	5: 137,411,498	S28P	possibly damaging	Het

Other mutations in Tprkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
V7583: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

Posted On

2015-04-16