Mutagenetix > Incidental Mutation

Incidental Mutation 'R0416:Ptk6'

40301

Institutional Source

Beutler Lab

Gene Symbol

Ptk6

Ensembl Gene

ENSMUSG00000038751

Gene Name

PTK6 protein tyrosine kinase 6

Synonyms

Tksk, Sik

MMRRC Submission

038618-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0416 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180836917-180845408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180844101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 66 (Y66C)

Ref Sequence

ENSEMBL: ENSMUSP00000016511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016498] [ENSMUST00000016511]

AlphaFold

Q64434

Predicted Effect

probably benign
Transcript: ENSMUST00000016498

SMART Domains

Protein: ENSMUSP00000016498
Gene: ENSMUSG00000027579

Domain	Start	End	E-Value	Type
SH3	69	126	3.13e-9	SMART
SH2	133	218	5.29e-32	SMART
TyrKc	245	495	2.75e-135	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016511
AA Change: Y66C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000016511
Gene: ENSMUSG00000038751
AA Change: Y66C

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

Meta Mutation Damage Score

0.7440

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 91.8%

Validation Efficiency

99% (74/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,162,779 (GRCm39)	I18V	probably benign	Het
Adamdec1	T	G	14: 68,806,161 (GRCm39)	E438A	possibly damaging	Het
Adamts17	A	G	7: 66,565,646 (GRCm39)		probably null	Het
Ankrd44	T	G	1: 54,782,498 (GRCm39)	I359L	possibly damaging	Het
Ap2s1	C	A	7: 16,481,290 (GRCm39)	N86K	probably damaging	Het
Arih1	T	A	9: 59,333,993 (GRCm39)		probably benign	Het
Astn1	T	A	1: 158,337,461 (GRCm39)	I389N	probably damaging	Het
Brca2	T	C	5: 150,492,857 (GRCm39)	S3291P	possibly damaging	Het
Cacna1d	T	C	14: 29,822,645 (GRCm39)		probably benign	Het
Ccl7	C	A	11: 81,936,692 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,944,486 (GRCm39)	Y232F	possibly damaging	Het
Cep128	A	G	12: 91,197,641 (GRCm39)		probably benign	Het
Cep89	T	A	7: 35,115,827 (GRCm39)		probably benign	Het
Cmya5	T	G	13: 93,226,364 (GRCm39)	N2908T	probably benign	Het
Coil	T	C	11: 88,872,812 (GRCm39)	L391S	possibly damaging	Het
Cpd	C	T	11: 76,676,030 (GRCm39)	V1208I	probably benign	Het
Ddx19a	T	C	8: 111,705,689 (GRCm39)	D254G	probably damaging	Het
Desi2	T	A	1: 178,083,887 (GRCm39)		probably benign	Het
Dnah11	A	T	12: 117,874,793 (GRCm39)	M4024K	probably damaging	Het
Ergic2	A	T	6: 148,084,642 (GRCm39)	L53H	probably damaging	Het
Etv2	T	C	7: 30,334,058 (GRCm39)	Y225C	probably benign	Het
F10	G	A	8: 13,105,448 (GRCm39)	A338T	probably damaging	Het
Fam228b	T	A	12: 4,812,382 (GRCm39)	D132V	probably damaging	Het
Fat2	T	A	11: 55,174,960 (GRCm39)	I1918F	possibly damaging	Het
Fbxw5	C	T	2: 25,393,251 (GRCm39)	S214F	probably damaging	Het
Glyat	G	A	19: 12,628,817 (GRCm39)	R204Q	possibly damaging	Het
Gm4825	T	C	15: 85,395,182 (GRCm39)		noncoding transcript	Het
Ino80d	G	T	1: 63,125,435 (GRCm39)	T9K	possibly damaging	Het
Lifr	A	T	15: 7,196,395 (GRCm39)	D193V	probably damaging	Het
Lrp12	G	T	15: 39,742,307 (GRCm39)		probably benign	Het
Lrp3	A	G	7: 34,901,778 (GRCm39)	V701A	probably benign	Het
Mfsd11	T	A	11: 116,756,708 (GRCm39)		probably benign	Het
Mrto4	A	T	4: 139,077,043 (GRCm39)		probably null	Het
Msi1	T	C	5: 115,568,708 (GRCm39)	F43L	possibly damaging	Het
Mthfsd	T	C	8: 121,827,976 (GRCm39)	D168G	probably damaging	Het
Myo15a	T	A	11: 60,402,000 (GRCm39)	V3099E	probably damaging	Het
Myrf	T	C	19: 10,193,176 (GRCm39)		probably null	Het
Nadk	C	A	4: 155,672,256 (GRCm39)		probably benign	Het
Nav1	T	C	1: 135,398,864 (GRCm39)	K573E	possibly damaging	Het
Ndufs3	A	G	2: 90,728,732 (GRCm39)	V207A	probably damaging	Het
Nlrp3	T	C	11: 59,446,750 (GRCm39)		probably benign	Het
Nlrx1	T	G	9: 44,174,211 (GRCm39)	D330A	probably benign	Het
Or2a56	G	A	6: 42,932,504 (GRCm39)	C24Y	probably benign	Het
Or2t49	T	C	11: 58,393,222 (GRCm39)	I53M	unknown	Het
Osbpl3	C	T	6: 50,324,998 (GRCm39)	V167I	probably benign	Het
Pcnx1	A	T	12: 82,021,240 (GRCm39)	I1410F	probably benign	Het
Piezo2	G	A	18: 63,157,562 (GRCm39)	R2383C	probably damaging	Het
Pip5kl1	A	T	2: 32,473,436 (GRCm39)	K358*	probably null	Het
Polg	T	C	7: 79,101,988 (GRCm39)		probably benign	Het
Prr14l	T	A	5: 32,986,061 (GRCm39)	I1145F	probably benign	Het
Psmb1	C	T	17: 15,714,781 (GRCm39)	V39I	probably benign	Het
Robo4	T	C	9: 37,316,062 (GRCm39)		probably benign	Het
Sdk2	A	G	11: 113,694,029 (GRCm39)	Y1801H	probably damaging	Het
Serpinb3a	C	A	1: 106,977,116 (GRCm39)	A95S	probably benign	Het
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,384,469 (GRCm39)		probably benign	Het
Sik2	A	T	9: 50,906,932 (GRCm39)	Y98N	probably damaging	Het
Slc30a1	C	T	1: 191,641,838 (GRCm39)	P495S	probably benign	Het
Smg1	A	T	7: 117,783,684 (GRCm39)		probably benign	Het
Stk3	T	A	15: 35,114,778 (GRCm39)	I45L	probably benign	Het
Tapbp	A	G	17: 34,144,392 (GRCm39)	T163A	probably damaging	Het
Tdrd5	T	C	1: 156,113,051 (GRCm39)	K410E	probably damaging	Het
Trim30b	A	T	7: 104,012,973 (GRCm39)	M152K	probably benign	Het
Trpm6	G	T	19: 18,760,389 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,742,743 (GRCm39)		probably benign	Het
U2surp	A	T	9: 95,367,660 (GRCm39)	F444I	probably damaging	Het
Vmn2r95	C	T	17: 18,661,664 (GRCm39)	P470L	probably damaging	Het
Zc3h4	T	G	7: 16,154,200 (GRCm39)	Y163D	probably damaging	Het
Zfp62	A	T	11: 49,106,503 (GRCm39)	H198L	probably damaging	Het
Zmym1	A	G	4: 126,952,613 (GRCm39)	L56P	probably benign	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
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
R5806:Ptk6	UTSW	2	180,841,523 (GRCm39)	missense	possibly damaging	0.95
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'- ATAGATCTCGTCCCTCACAGCCAG -3'
(R):5'- TAAGTGTCCACAAGCAGGCCACAG -3'

Sequencing Primer
(F):5'- AATCCACACTGGGCATTTTGG -3'
(R):5'- GCTGACTCTGCCACTAAGC -3'

Posted On

2013-05-23