Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00979:Pak6'

27023

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pak6

Ensembl Gene

ENSMUSG00000074923

Gene Name

p21 (RAC1) activated kinase 6

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00979

Quality Score

Status

Chromosome

Chromosomal Location

118663303-118698020 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 118696482 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 653 (L653I)

Ref Sequence

ENSEMBL: ENSMUSP00000106477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099557] [ENSMUST00000104937] [ENSMUST00000110853]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099557
AA Change: L653I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097153
Gene: ENSMUSG00000074923
AA Change: L653I

Domain	Start	End	E-Value	Type
PBD	12	47	4.47e-11	SMART
S_TKc	408	659	2.38e-89	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000104937

SMART Domains

Protein: ENSMUSP00000100542
Gene: ENSMUSG00000078137

Domain	Start	End	E-Value	Type
ANK	46	79	1.87e0	SMART
ANK	83	112	3.23e-4	SMART
ANK	116	145	3.44e1	SMART
low complexity region	193	247	N/A	INTRINSIC
low complexity region	331	341	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110853
AA Change: L653I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106477
Gene: ENSMUSG00000074923
AA Change: L653I

Domain	Start	End	E-Value	Type
PBD	12	47	4.47e-11	SMART
S_TKc	408	659	2.38e-89	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132577

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 member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null allele do not exhibit any abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	T	4: 123,860,545	K84M	probably damaging	Het
A4gnt	T	A	9: 99,620,436	Y216*	probably null	Het
Abcb1b	A	G	5: 8,825,293		probably benign	Het
Ankrd50	G	A	3: 38,452,414		probably benign	Het
Catsperb	A	G	12: 101,415,325	T89A	probably benign	Het
Ccdc15	C	T	9: 37,316,490	S236N	probably benign	Het
Cd34	A	C	1: 194,949,508	T151P	possibly damaging	Het
Col28a1	A	T	6: 8,014,810	V865E	probably damaging	Het
Csf2rb	T	A	15: 78,348,104	V537E	probably damaging	Het
Cux2	A	G	5: 121,873,714	F553L	probably damaging	Het
Dolk	A	T	2: 30,284,731	L434Q	probably damaging	Het
Dsg2	C	A	18: 20,582,767	D255E	probably damaging	Het
Endov	T	C	11: 119,500,618	V144A	probably damaging	Het
Grik2	T	C	10: 49,355,938	N499D	probably damaging	Het
Hephl1	G	T	9: 15,067,045	T855K	probably benign	Het
Hif1a	A	G	12: 73,942,010	D557G	probably damaging	Het
Idh1	G	A	1: 65,171,149	T75I	probably damaging	Het
Ighv1-37	A	G	12: 114,896,450	S47P	probably benign	Het
Irx4	A	G	13: 73,268,222		probably benign	Het
Itpr1	C	T	6: 108,471,120	A1871V	probably damaging	Het
Klkb1	A	G	8: 45,294,068		probably benign	Het
Lrrc8e	T	C	8: 4,235,080	L435P	probably damaging	Het
Megf11	T	A	9: 64,508,727	Y73N	probably damaging	Het
Nfe2	T	C	15: 103,249,180	D128G	probably damaging	Het
Olfr1301	T	A	2: 111,754,426	M59K	probably damaging	Het
Olfr535	A	G	7: 140,492,701	E21G	probably benign	Het
Pde4dip	T	A	3: 97,747,758		probably benign	Het
Pds5a	A	G	5: 65,631,723	V831A	probably benign	Het
Ppp1r32	T	C	19: 10,474,499	*428W	probably null	Het
Prc1	G	T	7: 80,307,696		probably null	Het
Ptprs	C	T	17: 56,458,243	G14S	probably damaging	Het
Pygb	A	G	2: 150,819,913	K520E	probably benign	Het
Rimbp2	A	G	5: 128,806,441	S92P	probably benign	Het
Samd4b	A	T	7: 28,414,213	L109Q	probably damaging	Het
Scn8a	A	T	15: 100,955,406		probably benign	Het
Sdc3	A	G	4: 130,818,680	I23V	unknown	Het
Sec61a2	A	G	2: 5,872,020	Y350H	possibly damaging	Het
Slc4a3	A	T	1: 75,554,247	Q759L	probably damaging	Het
Speg	C	T	1: 75,410,734	P1378L	probably damaging	Het
Spta1	T	G	1: 174,208,390	Y1087*	probably null	Het
Tenm4	A	G	7: 96,729,391	E401G	probably damaging	Het
Tom1	C	A	8: 75,054,703		probably benign	Het
Ttc3	T	A	16: 94,456,718	V1273D	probably damaging	Het
Vmn2r106	G	T	17: 20,277,575	D467E	possibly damaging	Het
Washc4	A	T	10: 83,550,883	T124S	probably benign	Het
Zfp790	A	G	7: 29,829,609	E573G	probably benign	Het

Other mutations in Pak6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Pak6	APN	2	118689845	missense	possibly damaging	0.58
IGL01577:Pak6	APN	2	118693648	missense	probably benign	0.00
IGL01928:Pak6	APN	2	118689864	missense	probably damaging	1.00
IGL01951:Pak6	APN	2	118693260	missense	probably benign
IGL02387:Pak6	APN	2	118693233	missense	probably benign
IGL03302:Pak6	APN	2	118693303	missense	probably benign
bedamned	UTSW	2	118694007	splice site	probably benign
bequeathed	UTSW	2	118693522	missense	probably damaging	0.96
R0126:Pak6	UTSW	2	118690332	missense	possibly damaging	0.86
R0883:Pak6	UTSW	2	118693687	missense	probably damaging	1.00
R1128:Pak6	UTSW	2	118696509	missense	probably benign	0.00
R2073:Pak6	UTSW	2	118688851	missense	probably damaging	1.00
R2508:Pak6	UTSW	2	118694569	nonsense	probably null
R2920:Pak6	UTSW	2	118694007	splice site	probably benign
R3118:Pak6	UTSW	2	118689741	missense	probably damaging	1.00
R3689:Pak6	UTSW	2	118693440	nonsense	probably null
R3762:Pak6	UTSW	2	118696477	missense	probably damaging	0.99
R4589:Pak6	UTSW	2	118696540	missense	probably damaging	1.00
R4976:Pak6	UTSW	2	118694548	missense	probably damaging	1.00
R5119:Pak6	UTSW	2	118694548	missense	probably damaging	1.00
R5206:Pak6	UTSW	2	118693303	missense	probably benign
R5683:Pak6	UTSW	2	118693912	missense	probably damaging	1.00
R7232:Pak6	UTSW	2	118693522	missense	probably damaging	0.96
R7236:Pak6	UTSW	2	118693428	missense	probably benign	0.26
R7292:Pak6	UTSW	2	118693591	missense	possibly damaging	0.95
R7623:Pak6	UTSW	2	118694587	missense	probably damaging	1.00
R7823:Pak6	UTSW	2	118695312	missense	probably benign	0.02

Posted On

2013-04-17