Incidental Mutation 'IGL01652:Dok1'
| ID |
102852 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dok1
|
| Ensembl Gene |
ENSMUSG00000068335 |
| Gene Name |
docking protein 1 |
| Synonyms |
p62DOK |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
IGL01652
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
83007915-83010448 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83009543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 143
(N143D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000707]
[ENSMUST00000089651]
[ENSMUST00000101257]
[ENSMUST00000113980]
[ENSMUST00000149918]
|
| AlphaFold |
P97465 |
| PDB Structure |
Crystal Structure of Dok1 PTB Domain [X-RAY DIFFRACTION]
Crystal Structure of Dok1 PTB Domain Complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000707
|
| SMART Domains |
Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
SR
|
45 |
146 |
2.1e-50 |
SMART |
|
SR
|
170 |
283 |
1.09e-25 |
SMART |
|
SR
|
308 |
408 |
3.72e-51 |
SMART |
|
SR
|
418 |
526 |
8.5e-37 |
SMART |
|
Pfam:Lysyl_oxidase
|
530 |
730 |
3.9e-103 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089651
AA Change: N143D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087079
Gene: ENSMUSG00000068335
AA Change: N143D
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
4 |
121 |
1.31e-8 |
SMART |
|
IRS
|
151 |
254 |
1.21e-45 |
SMART |
|
PTBI
|
152 |
254 |
3.84e-59 |
SMART |
|
low complexity region
|
411 |
424 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101257
|
| SMART Domains |
Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
SR
|
45 |
146 |
2.1e-50 |
SMART |
|
SR
|
170 |
283 |
1.09e-25 |
SMART |
|
SR
|
308 |
396 |
5.46e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113980
|
| SMART Domains |
Protein: ENSMUSP00000109613
Gene: ENSMUSG00000030041
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144906
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152679
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204891
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204900
|
| 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 part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice display mild abnormalities in myeloid cell proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
A |
T |
17: 72,910,526 (GRCm39) |
V60E |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,726,690 (GRCm39) |
K868R |
probably benign |
Het |
| Ankrd13a |
A |
T |
5: 114,929,397 (GRCm39) |
D158V |
probably damaging |
Het |
| Arhgap12 |
G |
T |
18: 6,061,853 (GRCm39) |
N380K |
possibly damaging |
Het |
| Cpn1 |
A |
T |
19: 43,974,533 (GRCm39) |
F65L |
possibly damaging |
Het |
| Dlec1 |
T |
A |
9: 118,972,975 (GRCm39) |
H1496Q |
probably benign |
Het |
| Dock1 |
C |
T |
7: 134,379,226 (GRCm39) |
|
probably benign |
Het |
| Fcmr |
C |
T |
1: 130,806,244 (GRCm39) |
P363L |
probably benign |
Het |
| Galk2 |
A |
G |
2: 125,738,685 (GRCm39) |
T171A |
probably benign |
Het |
| Hrh3 |
G |
T |
2: 179,742,896 (GRCm39) |
P244Q |
possibly damaging |
Het |
| Icam1 |
T |
C |
9: 20,930,472 (GRCm39) |
Y109H |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,023,187 (GRCm39) |
V132A |
possibly damaging |
Het |
| Or4c113 |
A |
T |
2: 88,884,913 (GRCm39) |
Y286N |
probably damaging |
Het |
| Pla2g4f |
T |
C |
2: 120,132,716 (GRCm39) |
I707V |
possibly damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,949 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
A |
T |
7: 110,046,327 (GRCm39) |
V290E |
probably damaging |
Het |
| Stard3 |
T |
G |
11: 98,269,559 (GRCm39) |
|
probably benign |
Het |
| Sufu |
T |
C |
19: 46,464,059 (GRCm39) |
Y424H |
probably damaging |
Het |
| Trim35 |
T |
G |
14: 66,546,250 (GRCm39) |
V339G |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,063 (GRCm39) |
I58V |
probably benign |
Het |
|
| Other mutations in Dok1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01680:Dok1
|
APN |
6 |
83,008,293 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02076:Dok1
|
APN |
6 |
83,009,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02341:Dok1
|
APN |
6 |
83,010,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02706:Dok1
|
APN |
6 |
83,009,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Dok1
|
UTSW |
6 |
83,008,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Dok1
|
UTSW |
6 |
83,009,029 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1859:Dok1
|
UTSW |
6 |
83,009,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Dok1
|
UTSW |
6 |
83,009,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5048:Dok1
|
UTSW |
6 |
83,009,087 (GRCm39) |
intron |
probably benign |
|
|
R7618:Dok1
|
UTSW |
6 |
83,009,872 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8918:Dok1
|
UTSW |
6 |
83,008,324 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9138:Dok1
|
UTSW |
6 |
83,009,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9248:Dok1
|
UTSW |
6 |
83,008,893 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9381:Dok1
|
UTSW |
6 |
83,009,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9448:Dok1
|
UTSW |
6 |
83,009,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9495:Dok1
|
UTSW |
6 |
83,009,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9514:Dok1
|
UTSW |
6 |
83,009,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Dok1
|
UTSW |
6 |
83,009,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9714:Dok1
|
UTSW |
6 |
83,008,275 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation