Mutagenetix > Incidental Mutation

Incidental Mutation 'R5806:Ptk6'

448484

Institutional Source

Beutler Lab

Gene Symbol

Ptk6

Ensembl Gene

ENSMUSG00000038751

Gene Name

PTK6 protein tyrosine kinase 6

Synonyms

Tksk, Sik

MMRRC Submission

043392-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5806 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180836917-180845408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180841523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 129 (I129V)

Ref Sequence

ENSEMBL: ENSMUSP00000016511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016511]

AlphaFold

Q64434

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016511
AA Change: I129V

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000016511
Gene: ENSMUSG00000038751
AA Change: I129V

Domain	Start	End	E-Value	Type
SH3	11	71	2e-16	SMART
SH2	76	161	1.01e-28	SMART
TyrKc	191	441	1.12e-131	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele display increased villus length in the jejunum and ileum and increased villus epithelial cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,388,731 (GRCm39)	M216T	probably benign	Het
Abhd4	A	G	14: 54,499,147 (GRCm39)	N36D	probably benign	Het
Ankra2	T	C	13: 98,405,005 (GRCm39)		probably null	Het
Btd	A	G	14: 31,389,469 (GRCm39)	T397A	probably benign	Het
Ccbe1	T	A	18: 66,209,426 (GRCm39)	K205*	probably null	Het
Clspn	A	G	4: 126,479,899 (GRCm39)	K1081E	probably damaging	Het
Cmya5	A	G	13: 93,230,445 (GRCm39)	S1548P	possibly damaging	Het
Coq8b	T	A	7: 26,950,050 (GRCm39)	Y376*	probably null	Het
Cpxm1	C	A	2: 130,239,393 (GRCm39)	A12S	probably damaging	Het
Cttn	T	C	7: 144,015,005 (GRCm39)	T68A	probably damaging	Het
Cyp2a12	T	A	7: 26,728,504 (GRCm39)		probably null	Het
Ddx46	A	G	13: 55,811,150 (GRCm39)	Q582R	possibly damaging	Het
Ddx55	A	G	5: 124,697,262 (GRCm39)	E208G	probably damaging	Het
Dnaaf4	T	C	9: 72,869,336 (GRCm39)	L182P	probably benign	Het
Dync1h1	A	T	12: 110,618,087 (GRCm39)	T3209S	probably damaging	Het
Ep400	A	T	5: 110,903,420 (GRCm39)	L393*	probably null	Het
Ern1	G	C	11: 106,289,531 (GRCm39)	S924C	probably damaging	Het
Fanci	T	C	7: 79,098,596 (GRCm39)	I1249T	probably damaging	Het
Fgfbp3	T	G	19: 36,895,949 (GRCm39)	D223A	probably damaging	Het
Frmd6	T	C	12: 70,936,794 (GRCm39)	L313P	probably damaging	Het
Galnt17	A	G	5: 130,906,657 (GRCm39)	Y504H	probably damaging	Het
Gjb5	A	G	4: 127,249,718 (GRCm39)	I142T	probably benign	Het
Gvin1	T	C	7: 105,757,413 (GRCm39)	D2352G	probably benign	Het
H2-M2	G	A	17: 37,792,617 (GRCm39)	T218I	probably damaging	Het
Hal	A	G	10: 93,326,846 (GRCm39)	T161A	probably damaging	Het
Helb	G	A	10: 119,928,424 (GRCm39)	R806C	probably damaging	Het
Ift80	T	A	3: 68,857,809 (GRCm39)	I279F	probably benign	Het
Itln1	A	T	1: 171,358,720 (GRCm39)	I149N	possibly damaging	Het
Kcnt2	A	C	1: 140,437,234 (GRCm39)	T556P	probably damaging	Het
Klk1b22	A	T	7: 43,765,301 (GRCm39)	E84D	possibly damaging	Het
Krt78	A	G	15: 101,858,937 (GRCm39)	L305P	probably damaging	Het
Lzts2	T	C	19: 45,014,806 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,265,680 (GRCm39)	L6843P	probably damaging	Het
Magi2	C	A	5: 20,856,202 (GRCm39)	H841Q	probably benign	Het
Mdm1	A	T	10: 118,002,563 (GRCm39)	H628L	probably benign	Het
Med23	A	G	10: 24,783,119 (GRCm39)	D734G	probably damaging	Het
Mfsd13a	T	C	19: 46,354,849 (GRCm39)	W9R	probably benign	Het
Mki67	T	C	7: 135,306,334 (GRCm39)	H576R	probably damaging	Het
Muc5b	A	G	7: 141,416,572 (GRCm39)	T3173A	possibly damaging	Het
Mx1	A	T	16: 97,255,351 (GRCm39)	V234E	possibly damaging	Het
Myh2	T	C	11: 67,072,141 (GRCm39)	L623P	probably damaging	Het
Naip1	C	T	13: 100,581,243 (GRCm39)	M1I	probably null	Het
Ncapd2	A	T	6: 125,158,117 (GRCm39)	V337E	probably damaging	Het
Nit2	G	A	16: 56,982,056 (GRCm39)	T64M	possibly damaging	Het
Or1e34	A	T	11: 73,778,373 (GRCm39)	M275K	probably damaging	Het
Or4c103	T	C	2: 88,513,495 (GRCm39)	N194D	probably damaging	Het
Or6e1	A	T	14: 54,520,264 (GRCm39)	F29L	probably benign	Het
Otub2	A	G	12: 103,369,656 (GRCm39)	E245G	probably benign	Het
Pde8b	T	C	13: 95,178,548 (GRCm39)	K524R	probably damaging	Het
Pih1d2	C	T	9: 50,529,750 (GRCm39)		probably benign	Het
Pik3cg	T	A	12: 32,254,952 (GRCm39)	D345V	possibly damaging	Het
Plekhg4	A	T	8: 106,105,542 (GRCm39)	Q669L	possibly damaging	Het
Prlr	A	T	15: 10,319,290 (GRCm39)	Y73F	probably damaging	Het
Ranbp3	A	T	17: 57,017,717 (GRCm39)	T458S	probably benign	Het
Ren1	T	A	1: 133,283,249 (GRCm39)	Y128*	probably null	Het
Rimkla	A	T	4: 119,325,663 (GRCm39)	S249T	probably damaging	Het
Rnf222	T	C	11: 68,783,789 (GRCm39)	S119P	possibly damaging	Het
Rrbp1	T	A	2: 143,805,251 (GRCm39)	E1007V	probably benign	Het
Septin11	G	A	5: 93,315,437 (GRCm39)	E389K	probably benign	Het
Setbp1	A	G	18: 78,899,697 (GRCm39)		probably null	Het
Slc25a54	T	C	3: 108,987,894 (GRCm39)	S12P	probably benign	Het
Slc26a5	A	C	5: 22,028,561 (GRCm39)	F336V	probably damaging	Het
Slc5a6	T	C	5: 31,198,114 (GRCm39)	T254A	probably damaging	Het
Smcr8	G	T	11: 60,671,208 (GRCm39)		probably null	Het
Srcap	A	T	7: 127,158,335 (GRCm39)		probably benign	Het
Srrt	A	T	5: 137,296,179 (GRCm39)	I509N	probably damaging	Het
Tcf25	T	A	8: 124,108,243 (GRCm39)	H99Q	probably benign	Het
Tmem40	A	G	6: 115,713,373 (GRCm39)	V76A	probably benign	Het
Tnni3k	A	T	3: 154,533,248 (GRCm39)	S740T	possibly damaging	Het
Top3a	A	G	11: 60,667,746 (GRCm39)		probably null	Het
Tpd52l2	C	A	2: 181,144,680 (GRCm39)	T109K	probably damaging	Het
Tsnaxip1	C	A	8: 106,564,128 (GRCm39)	D109E	possibly damaging	Het
Uty	G	T	Y: 1,170,921 (GRCm39)	D313E	probably damaging	Het
Zfp143	A	T	7: 109,685,442 (GRCm39)	K423*	probably null	Het
Zfp407	C	T	18: 84,576,739 (GRCm39)	G1458D	probably damaging	Het

Other mutations in Ptk6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Ptk6	APN	2	180,837,611 (GRCm39)	missense	probably benign	0.00
IGL01630:Ptk6	APN	2	180,838,859 (GRCm39)	missense	probably damaging	0.99
IGL01862:Ptk6	APN	2	180,841,433 (GRCm39)	missense	probably benign	0.00
IGL02231:Ptk6	APN	2	180,838,794 (GRCm39)	missense	probably damaging	1.00
IGL02965:Ptk6	APN	2	180,840,861 (GRCm39)	splice site	probably benign
R0115:Ptk6	UTSW	2	180,844,320 (GRCm39)	start gained	probably benign
R0139:Ptk6	UTSW	2	180,838,724 (GRCm39)	splice site	probably benign
R0245:Ptk6	UTSW	2	180,844,284 (GRCm39)	missense	probably benign
R0358:Ptk6	UTSW	2	180,840,315 (GRCm39)	missense	probably benign	0.01
R0416:Ptk6	UTSW	2	180,844,101 (GRCm39)	missense	possibly damaging	0.94
R0454:Ptk6	UTSW	2	180,844,075 (GRCm39)	missense	possibly damaging	0.86
R0470:Ptk6	UTSW	2	180,837,732 (GRCm39)	missense	probably benign
R0481:Ptk6	UTSW	2	180,844,320 (GRCm39)	start gained	probably benign
R1147:Ptk6	UTSW	2	180,837,590 (GRCm39)	missense	probably benign	0.23
R1147:Ptk6	UTSW	2	180,837,590 (GRCm39)	missense	probably benign	0.23
R1234:Ptk6	UTSW	2	180,844,233 (GRCm39)	missense	possibly damaging	0.94
R2249:Ptk6	UTSW	2	180,838,173 (GRCm39)	missense	probably benign	0.03
R4842:Ptk6	UTSW	2	180,838,784 (GRCm39)	missense	possibly damaging	0.89
R5568:Ptk6	UTSW	2	180,841,488 (GRCm39)	missense	possibly damaging	0.47
R6017:Ptk6	UTSW	2	180,837,605 (GRCm39)	missense	probably benign	0.32
R6285:Ptk6	UTSW	2	180,838,886 (GRCm39)	missense	probably null	1.00
R6293:Ptk6	UTSW	2	180,840,253 (GRCm39)	missense	probably damaging	1.00
R6468:Ptk6	UTSW	2	180,840,895 (GRCm39)	missense	probably benign
R7369:Ptk6	UTSW	2	180,840,254 (GRCm39)	missense	possibly damaging	0.86
R8256:Ptk6	UTSW	2	180,837,633 (GRCm39)	nonsense	probably null
R9335:Ptk6	UTSW	2	180,844,146 (GRCm39)	missense	probably damaging	1.00
R9439:Ptk6	UTSW	2	180,840,206 (GRCm39)	missense	possibly damaging	0.75
R9500:Ptk6	UTSW	2	180,837,566 (GRCm39)	missense	probably benign	0.07
X0062:Ptk6	UTSW	2	180,844,116 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGGCAACTATGTCACAGAG -3'
(R):5'- TGGCCTATGTGTCATGGAAGC -3'

Sequencing Primer
(F):5'- CTATGTCACAGAGGAGCCAGTG -3'
(R):5'- CTTGTGGCCTAATACCCTAGGAG -3'

Posted On

2016-12-15