Incidental Mutation 'IGL01680:Dok1'
| ID |
103758 |
| 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: 0.142)
|
| Stock # |
IGL01680
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
83007915-83010448 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83008293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 463
(D463G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000089651
AA Change: D463G
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087079
Gene: ENSMUSG00000068335
AA Change: D463G
| 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: ENSMUST00000204900
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204891
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
C |
17: 57,709,620 (GRCm39) |
W121R |
unknown |
Het |
| Adprh |
C |
T |
16: 38,270,578 (GRCm39) |
G76S |
possibly damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,423,976 (GRCm39) |
T697A |
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,680,705 (GRCm39) |
M489T |
probably benign |
Het |
| Clec5a |
A |
G |
6: 40,561,314 (GRCm39) |
Y44H |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,833,426 (GRCm39) |
H950R |
probably damaging |
Het |
| Dennd10 |
A |
G |
19: 60,805,972 (GRCm39) |
T86A |
possibly damaging |
Het |
| Dgkz |
G |
T |
2: 91,766,210 (GRCm39) |
P784T |
probably benign |
Het |
| Eif4a2 |
C |
A |
16: 22,927,941 (GRCm39) |
Q94K |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,055,956 (GRCm39) |
L1710P |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,808,988 (GRCm39) |
|
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,372,137 (GRCm39) |
|
probably null |
Het |
| Gga2 |
G |
T |
7: 121,597,299 (GRCm39) |
D363E |
probably benign |
Het |
| Glis2 |
T |
A |
16: 4,429,195 (GRCm39) |
F133I |
possibly damaging |
Het |
| Isg20 |
A |
G |
7: 78,566,333 (GRCm39) |
D94G |
probably damaging |
Het |
| Kif23 |
T |
C |
9: 61,839,096 (GRCm39) |
D319G |
probably benign |
Het |
| Lbr |
C |
A |
1: 181,663,759 (GRCm39) |
R87L |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,771,513 (GRCm39) |
T715A |
probably benign |
Het |
| Mapk14 |
T |
C |
17: 28,944,820 (GRCm39) |
|
probably null |
Het |
| Mpp4 |
A |
C |
1: 59,169,226 (GRCm39) |
C341W |
probably benign |
Het |
| Mroh9 |
C |
T |
1: 162,875,551 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
C |
8: 10,322,630 (GRCm39) |
V20A |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,249 (GRCm39) |
S154P |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,436 (GRCm39) |
C171* |
probably null |
Het |
| Or7c19 |
A |
T |
8: 85,957,308 (GRCm39) |
L61F |
probably benign |
Het |
| Pofut2 |
C |
T |
10: 77,099,127 (GRCm39) |
R186W |
probably damaging |
Het |
| Ppp1r1b |
T |
A |
11: 98,241,392 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
A |
G |
5: 53,218,218 (GRCm39) |
I166V |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,637,928 (GRCm39) |
T375A |
probably benign |
Het |
| Slitrk5 |
C |
A |
14: 111,916,432 (GRCm39) |
H19N |
probably benign |
Het |
| Sptb |
T |
A |
12: 76,677,456 (GRCm39) |
Q126L |
probably damaging |
Het |
| Stoml1 |
T |
C |
9: 58,163,996 (GRCm39) |
V105A |
probably damaging |
Het |
| Stt3b |
C |
A |
9: 115,075,329 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,913,488 (GRCm39) |
E144G |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,498,937 (GRCm39) |
Y49H |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,315,586 (GRCm39) |
W160* |
probably null |
Het |
| Zfp647 |
T |
A |
15: 76,801,968 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dok1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01652:Dok1
|
APN |
6 |
83,009,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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