Incidental Mutation 'IGL01630:Ptk6'
| ID |
92905 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptk6
|
| Ensembl Gene |
ENSMUSG00000038751 |
| Gene Name |
PTK6 protein tyrosine kinase 6 |
| Synonyms |
Tksk, Sik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01630
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
180836917-180845408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 180838859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 298
(E298G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016511]
|
| AlphaFold |
Q64434 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016511
AA Change: E298G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000016511
Gene: ENSMUSG00000038751
AA Change: E298G
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,069,171 (GRCm39) |
T207A |
possibly damaging |
Het |
| Ak8 |
T |
A |
2: 28,602,291 (GRCm39) |
M75K |
probably benign |
Het |
| Aldh1a7 |
A |
T |
19: 20,673,693 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
G |
A |
9: 89,611,879 (GRCm39) |
T154I |
probably damaging |
Het |
| Arrb2 |
A |
G |
11: 70,327,697 (GRCm39) |
I120M |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,049,437 (GRCm39) |
V535A |
probably benign |
Het |
| Cckbr |
G |
T |
7: 105,083,293 (GRCm39) |
W165C |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,564,648 (GRCm39) |
H1677Q |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,540,085 (GRCm39) |
F658S |
probably damaging |
Het |
| Gm5581 |
A |
T |
6: 131,145,259 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M3 |
A |
G |
17: 37,581,548 (GRCm39) |
E70G |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,137,068 (GRCm39) |
|
probably benign |
Het |
| Ighv1-24 |
C |
A |
12: 114,736,673 (GRCm39) |
V76F |
probably benign |
Het |
| Igkv1-110 |
A |
T |
6: 68,248,145 (GRCm39) |
R85W |
probably damaging |
Het |
| Kif9 |
A |
C |
9: 110,314,138 (GRCm39) |
R43S |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,710,368 (GRCm39) |
I472T |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,236,089 (GRCm39) |
Y376C |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,053,934 (GRCm39) |
A2199V |
possibly damaging |
Het |
| Or10a5 |
A |
T |
7: 106,636,318 (GRCm39) |
|
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,687 (GRCm39) |
K308E |
probably benign |
Het |
| Pcnt |
T |
A |
10: 76,256,080 (GRCm39) |
D720V |
probably damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Rbm27 |
T |
A |
18: 42,434,905 (GRCm39) |
L323H |
probably damaging |
Het |
| Sall3 |
A |
G |
18: 81,014,484 (GRCm39) |
L1076P |
probably benign |
Het |
| Sprr2h |
A |
G |
3: 92,294,258 (GRCm39) |
N35S |
unknown |
Het |
| Susd1 |
T |
C |
4: 59,365,817 (GRCm39) |
D412G |
possibly damaging |
Het |
| Ugdh |
T |
A |
5: 65,574,248 (GRCm39) |
M432L |
probably benign |
Het |
| Uggt2 |
C |
T |
14: 119,280,184 (GRCm39) |
V765I |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,964,692 (GRCm39) |
Q258R |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,055,354 (GRCm39) |
F1572Y |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,235,846 (GRCm39) |
T645A |
probably benign |
Het |
| Zer1 |
A |
G |
2: 29,991,843 (GRCm39) |
V659A |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation