Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Pak6'

2493

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pak6

Ensembl Gene

ENSMUSG00000074923

Gene Name

p21 (RAC1) activated kinase 6

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

118493784-118528501 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118520326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 106 (T106S)

Ref Sequence

ENSEMBL: ENSMUSP00000106477 (fasta)

Gene Model

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

AlphaFold

Q3ULB5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099557
AA Change: T106S

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097153
Gene: ENSMUSG00000074923
AA Change: T106S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110853
AA Change: T106S

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106477
Gene: ENSMUSG00000074923
AA Change: T106S

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,964,603 (GRCm39)	T929A	probably damaging	Het
Adam6b	G	A	12: 113,455,013 (GRCm39)	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,685 (GRCm39)	M1314K	probably benign	Het
Alg6	T	A	4: 99,641,291 (GRCm39)	F152I	probably damaging	Het
Aopep	A	G	13: 63,347,314 (GRCm39)		probably benign	Het
Arid5b	A	G	10: 67,964,805 (GRCm39)	S289P	probably damaging	Het
Axin1	T	C	17: 26,413,046 (GRCm39)	F780L	probably damaging	Het
C9	C	T	15: 6,512,712 (GRCm39)	S278L	possibly damaging	Het
Calr4	A	T	4: 109,101,312 (GRCm39)	I65F	probably damaging	Het
Cdh23	A	G	10: 60,359,327 (GRCm39)	V260A	probably benign	Het
Ddx25	T	C	9: 35,454,891 (GRCm39)		probably benign	Het
Dppa4	A	G	16: 48,111,446 (GRCm39)	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,203,058 (GRCm39)	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,895,334 (GRCm39)		probably null	Het
Fam149a	A	G	8: 45,804,823 (GRCm39)	V253A	probably damaging	Het
Fam209	C	T	2: 172,316,102 (GRCm39)	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,912,996 (GRCm39)	N265I	probably damaging	Het
Glud1	T	C	14: 34,058,087 (GRCm39)	V366A	probably benign	Het
Hdac10	T	C	15: 89,012,645 (GRCm39)	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,286,670 (GRCm39)	S54P	probably damaging	Het
Itpr2	T	C	6: 146,045,683 (GRCm39)	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,281,879 (GRCm39)	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,760,214 (GRCm39)	S1015T	unknown	Het
Lactb2	A	G	1: 13,730,598 (GRCm39)	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,358,362 (GRCm39)	D111V	probably damaging	Het
Lig4	T	C	8: 10,022,775 (GRCm39)	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,285,921 (GRCm39)	D715E	probably benign	Het
Med6	A	T	12: 81,626,348 (GRCm39)	V142D	possibly damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mettl13	A	G	1: 162,363,434 (GRCm39)	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,228,461 (GRCm39)	C1314*	probably null	Het
Nbeal2	A	G	9: 110,464,937 (GRCm39)	V1009A	probably damaging	Het
Nmur2	A	G	11: 55,931,603 (GRCm39)	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474 (GRCm39)	L119Q	probably damaging	Het
Or5b117	T	C	19: 13,431,204 (GRCm39)	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,300,048 (GRCm39)	E519K	probably damaging	Het
Pggt1b	T	G	18: 46,413,786 (GRCm39)	Q34P	probably benign	Het
Phactr4	T	C	4: 132,098,303 (GRCm39)	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,632,436 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,104,217 (GRCm39)		probably null	Het
Pramel32	A	G	4: 88,547,290 (GRCm39)	I214T	probably damaging	Het
Prr14l	T	C	5: 32,988,020 (GRCm39)	I492V	probably benign	Het
Ranbp2	C	A	10: 58,313,078 (GRCm39)	A1266E	probably damaging	Het
Riok3	G	A	18: 12,270,077 (GRCm39)	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,790,339 (GRCm39)	E643K	probably damaging	Het
Scara3	T	G	14: 66,170,570 (GRCm39)	E103A	probably benign	Het
Sgk3	T	C	1: 9,938,609 (GRCm39)	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,897,375 (GRCm39)	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571 (GRCm39)	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,806,897 (GRCm39)	Y728C	probably benign	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Spidr	A	T	16: 15,713,442 (GRCm39)	L847Q	probably damaging	Het
Sptb	A	G	12: 76,667,527 (GRCm39)	S857P	probably benign	Het
Syde1	A	G	10: 78,421,643 (GRCm39)	V636A	probably damaging	Het
Syna	A	G	5: 134,588,571 (GRCm39)	L126P	possibly damaging	Het
Taar2	A	G	10: 23,817,266 (GRCm39)	T269A	possibly damaging	Het
Tapbp	C	T	17: 34,144,678 (GRCm39)	T258I	probably damaging	Het
Tcf20	T	A	15: 82,741,343 (GRCm39)	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,849,807 (GRCm39)	M260K	probably damaging	Het
Tnc	T	A	4: 63,935,061 (GRCm39)		probably benign	Het
Ugp2	T	A	11: 21,304,345 (GRCm39)	E27D	probably benign	Het
Vps35l	T	A	7: 118,403,414 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,148,572 (GRCm39)	C140*	probably null	Het
Wnt2b	T	C	3: 104,860,449 (GRCm39)	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,343,719 (GRCm39)	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,157,238 (GRCm39)	G48C	probably damaging	Het
Zfp474	A	T	18: 52,771,565 (GRCm39)	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,527,988 (GRCm39)	F224L	probably benign	Het

Other mutations in Pak6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Pak6	APN	2	118,526,963 (GRCm39)	missense	probably damaging	1.00
IGL01577:Pak6	APN	2	118,524,129 (GRCm39)	missense	probably benign	0.00
IGL01928:Pak6	APN	2	118,520,345 (GRCm39)	missense	probably damaging	1.00
IGL01951:Pak6	APN	2	118,523,741 (GRCm39)	missense	probably benign
IGL02387:Pak6	APN	2	118,523,714 (GRCm39)	missense	probably benign
IGL03302:Pak6	APN	2	118,523,784 (GRCm39)	missense	probably benign
bedamned	UTSW	2	118,524,488 (GRCm39)	splice site	probably benign
bequeathed	UTSW	2	118,524,003 (GRCm39)	missense	probably damaging	0.96
R0126:Pak6	UTSW	2	118,520,813 (GRCm39)	missense	possibly damaging	0.86
R0883:Pak6	UTSW	2	118,524,168 (GRCm39)	missense	probably damaging	1.00
R1128:Pak6	UTSW	2	118,526,990 (GRCm39)	missense	probably benign	0.00
R2073:Pak6	UTSW	2	118,519,332 (GRCm39)	missense	probably damaging	1.00
R2508:Pak6	UTSW	2	118,525,050 (GRCm39)	nonsense	probably null
R2920:Pak6	UTSW	2	118,524,488 (GRCm39)	splice site	probably benign
R3118:Pak6	UTSW	2	118,520,222 (GRCm39)	missense	probably damaging	1.00
R3689:Pak6	UTSW	2	118,523,921 (GRCm39)	nonsense	probably null
R3762:Pak6	UTSW	2	118,526,958 (GRCm39)	missense	probably damaging	0.99
R4589:Pak6	UTSW	2	118,527,021 (GRCm39)	missense	probably damaging	1.00
R4976:Pak6	UTSW	2	118,525,029 (GRCm39)	missense	probably damaging	1.00
R5119:Pak6	UTSW	2	118,525,029 (GRCm39)	missense	probably damaging	1.00
R5206:Pak6	UTSW	2	118,523,784 (GRCm39)	missense	probably benign
R5683:Pak6	UTSW	2	118,524,393 (GRCm39)	missense	probably damaging	1.00
R7232:Pak6	UTSW	2	118,524,003 (GRCm39)	missense	probably damaging	0.96
R7236:Pak6	UTSW	2	118,523,909 (GRCm39)	missense	probably benign	0.26
R7292:Pak6	UTSW	2	118,524,072 (GRCm39)	missense	possibly damaging	0.95
R7623:Pak6	UTSW	2	118,525,068 (GRCm39)	missense	probably damaging	1.00
R7823:Pak6	UTSW	2	118,525,793 (GRCm39)	missense	probably benign	0.02
R8190:Pak6	UTSW	2	118,520,578 (GRCm39)	nonsense	probably null
R8374:Pak6	UTSW	2	118,524,477 (GRCm39)	missense	probably benign	0.02
R8515:Pak6	UTSW	2	118,520,478 (GRCm39)	missense	probably benign	0.10
R9290:Pak6	UTSW	2	118,523,883 (GRCm39)	missense	probably damaging	1.00
R9689:Pak6	UTSW	2	118,520,243 (GRCm39)	missense	probably benign
R9768:Pak6	UTSW	2	118,520,396 (GRCm39)	missense	probably damaging	1.00

Posted On

2011-12-09