Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01472:Pbk'

88314

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pbk

Ensembl Gene

ENSMUSG00000022033

Gene Name

PDZ binding kinase

Synonyms

D14Ertd732e, 2810434B10Rik, TOPK

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.692) question?

Stock #

IGL01472

Quality Score

Status

Chromosome

Chromosomal Location

66043337-66055271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66054159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 235 (T235A)

Ref Sequence

ENSEMBL: ENSMUSP00000022612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022612] [ENSMUST00000022613] [ENSMUST00000139644]

AlphaFold

Q9JJ78

Predicted Effect

probably benign
Transcript: ENSMUST00000022612
AA Change: T235A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022612
Gene: ENSMUSG00000022033
AA Change: T235A

Domain	Start	End	E-Value	Type
Pfam:Pkinase	32	317	1.7e-40	PFAM
Pfam:Pkinase_Tyr	32	317	2.4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000022613

SMART Domains

Protein: ENSMUSP00000022613
Gene: ENSMUSG00000022034

Domain	Start	End	E-Value	Type
low complexity region	139	156	N/A	INTRINSIC
low complexity region	229	243	N/A	INTRINSIC
Pfam:zf-C2H2_3	371	410	1.6e-18	PFAM
Pfam:Acetyltransf_13	520	588	2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139644

SMART Domains

Protein: ENSMUSP00000114484
Gene: ENSMUSG00000022033

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	32	119	3.5e-5	PFAM
Pfam:Pkinase	32	120	7.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152130

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase related to the dual specific mitogen-activated protein kinase kinase (MAPKK) family. Evidence suggests that mitotic phosphorylation is required for its catalytic activity. The encoded protein may be involved in the activation of lymphoid cells and support testicular functions, with a suggested role in the process of spermatogenesis. Overexpression of this gene has been implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased UV-induced loss of the horny layer, epidermis thickening, skin fibrosis, and deposition of extracellular matrix in the skin. [provided by MGI curators]

Allele List at MGI

All alleles(14) : Gene trapped(14)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	G	A	7: 119,153,759 (GRCm39)		probably null	Het
Adamts4	T	C	1: 171,080,419 (GRCm39)	F324S	probably damaging	Het
Alg10b	T	A	15: 90,111,900 (GRCm39)	L248Q	possibly damaging	Het
Antxr2	T	A	5: 98,175,358 (GRCm39)	T90S	probably benign	Het
Arhgap21	C	T	2: 20,854,392 (GRCm39)	E1657K	probably damaging	Het
Atp13a5	T	G	16: 29,094,175 (GRCm39)	D803A	probably damaging	Het
Bzw2	T	C	12: 36,159,795 (GRCm39)	D185G	probably damaging	Het
Camta2	A	G	11: 70,574,950 (GRCm39)	S62P	probably damaging	Het
Cep85	T	C	4: 133,861,477 (GRCm39)	Q599R	possibly damaging	Het
Chsy3	G	A	18: 59,309,439 (GRCm39)	V231I	probably damaging	Het
Cnbd2	C	T	2: 156,217,268 (GRCm39)	R457W	probably damaging	Het
Col20a1	A	G	2: 180,649,625 (GRCm39)	T1036A	probably benign	Het
Colgalt2	T	C	1: 152,382,629 (GRCm39)	Y494H	probably damaging	Het
Cox15	G	T	19: 43,732,104 (GRCm39)	Y237*	probably null	Het
Cpne9	C	A	6: 113,269,983 (GRCm39)	S281Y	possibly damaging	Het
D830013O20Rik	G	A	12: 73,411,090 (GRCm39)		noncoding transcript	Het
Dnah5	C	T	15: 28,331,872 (GRCm39)	R2153C	probably damaging	Het
Fam228a	A	G	12: 4,765,610 (GRCm39)	I267T	possibly damaging	Het
Fat4	G	A	3: 38,942,219 (GRCm39)	A371T	probably damaging	Het
Gm1818	T	C	12: 48,603,072 (GRCm39)		noncoding transcript	Het
Gm5592	T	C	7: 40,935,498 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,361,642 (GRCm39)	L207I	probably damaging	Het
Gtf3c1	A	G	7: 125,250,226 (GRCm39)		probably benign	Het
Hao1	C	T	2: 134,396,150 (GRCm39)	E35K	probably benign	Het
Iqch	T	C	9: 63,455,216 (GRCm39)	I194V	probably benign	Het
Ism1	A	T	2: 139,599,223 (GRCm39)	T392S	probably damaging	Het
Lcmt1	A	G	7: 123,027,376 (GRCm39)	Y313C	probably damaging	Het
Loxl4	A	G	19: 42,585,988 (GRCm39)	C718R	probably damaging	Het
Lyar	T	G	5: 38,382,066 (GRCm39)	I16R	possibly damaging	Het
Map3k20	T	C	2: 72,185,897 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,455,449 (GRCm39)	T941A	probably benign	Het
Myh8	A	G	11: 67,179,205 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,911,524 (GRCm39)	D1482G	probably benign	Het
Nr4a3	C	A	4: 48,071,133 (GRCm39)	A534D	probably damaging	Het
Oas1c	A	G	5: 120,940,986 (GRCm39)	V269A	probably damaging	Het
Odf2	T	A	2: 29,783,071 (GRCm39)	S5T	probably damaging	Het
Or5d36	T	A	2: 87,901,322 (GRCm39)	T135S	possibly damaging	Het
Or5p4	T	C	7: 107,680,411 (GRCm39)	S137P	probably benign	Het
Or9s27	T	A	1: 92,516,694 (GRCm39)	M214K	possibly damaging	Het
Phrf1	T	C	7: 140,836,403 (GRCm39)		probably benign	Het
Prkci	A	G	3: 31,104,341 (GRCm39)	D568G	probably damaging	Het
Prom2	T	A	2: 127,374,802 (GRCm39)	Y578F	probably benign	Het
Prph	T	C	15: 98,956,474 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,502,593 (GRCm39)	V3527A	probably benign	Het
Scn10a	C	T	9: 119,446,829 (GRCm39)	V1400I	probably damaging	Het
Slc10a2	A	G	8: 5,141,652 (GRCm39)	L244P	probably damaging	Het
Tardbp	A	G	4: 148,706,521 (GRCm39)	V96A	probably benign	Het
Tbc1d4	C	A	14: 101,727,300 (GRCm39)	E504*	probably null	Het
Tmed3	T	C	9: 89,584,928 (GRCm39)	E109G	probably benign	Het
Tnc	C	T	4: 63,924,656 (GRCm39)	R1014H	probably benign	Het
Tpcn2	C	T	7: 144,821,115 (GRCm39)	R313Q	probably damaging	Het
Trim45	A	G	3: 100,835,381 (GRCm39)	T455A	probably benign	Het
Txlna	A	G	4: 129,525,908 (GRCm39)	I313T	probably damaging	Het
Vmn1r202	A	T	13: 22,686,159 (GRCm39)	I86K	possibly damaging	Het
Vmn2r14	C	A	5: 109,364,180 (GRCm39)	E579*	probably null	Het
Wrn	T	A	8: 33,819,200 (GRCm39)	I8F	possibly damaging	Het
Zc3h18	A	G	8: 123,143,396 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,323,117 (GRCm39)	H876Q	probably benign	Het
Znrf2	C	T	6: 54,840,957 (GRCm39)	T177I	probably damaging	Het

Other mutations in Pbk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Pbk	APN	14	66,051,340 (GRCm39)	missense	probably damaging	1.00
IGL00858:Pbk	APN	14	66,049,373 (GRCm39)	splice site	probably benign
IGL03239:Pbk	APN	14	66,054,667 (GRCm39)	missense	probably benign	0.22
A5278:Pbk	UTSW	14	66,051,388 (GRCm39)	missense	probably damaging	1.00
R0067:Pbk	UTSW	14	66,052,675 (GRCm39)	missense	possibly damaging	0.90
R0645:Pbk	UTSW	14	66,051,245 (GRCm39)	splice site	probably benign
R4696:Pbk	UTSW	14	66,049,386 (GRCm39)	missense	probably benign	0.00
R4834:Pbk	UTSW	14	66,052,733 (GRCm39)	nonsense	probably null
R4856:Pbk	UTSW	14	66,052,650 (GRCm39)	missense	probably damaging	1.00
R4886:Pbk	UTSW	14	66,052,650 (GRCm39)	missense	probably damaging	1.00
R6006:Pbk	UTSW	14	66,054,094 (GRCm39)	missense	probably damaging	0.97
R6086:Pbk	UTSW	14	66,052,702 (GRCm39)	nonsense	probably null
R7272:Pbk	UTSW	14	66,052,621 (GRCm39)	missense	probably damaging	1.00
R7960:Pbk	UTSW	14	66,046,650 (GRCm39)	splice site	probably null
R8296:Pbk	UTSW	14	66,054,185 (GRCm39)	nonsense	probably null
R8333:Pbk	UTSW	14	66,054,680 (GRCm39)	missense	probably benign	0.23
R9061:Pbk	UTSW	14	66,049,439 (GRCm39)	missense	probably benign	0.37
R9290:Pbk	UTSW	14	66,054,713 (GRCm39)	missense	probably benign	0.02
Z1088:Pbk	UTSW	14	66,051,397 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-18