Incidental Mutation 'IGL02076:Dok1'
ID |
185988 |
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 # |
IGL02076
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
83007915-83010448 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83009812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 99
(L99P)
|
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: L99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087079 Gene: ENSMUSG00000068335 AA Change: L99P
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
T |
C |
5: 8,186,900 (GRCm39) |
Y407C |
probably damaging |
Het |
Capn5 |
T |
A |
7: 97,780,950 (GRCm39) |
K276* |
probably null |
Het |
Cct4 |
T |
C |
11: 22,952,394 (GRCm39) |
V495A |
probably damaging |
Het |
Dapk3 |
A |
G |
10: 81,026,131 (GRCm39) |
K141E |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,313,385 (GRCm39) |
N4264S |
probably damaging |
Het |
Ebf3 |
A |
G |
7: 136,833,030 (GRCm39) |
V215A |
possibly damaging |
Het |
Efnb2 |
A |
G |
8: 8,710,488 (GRCm39) |
S43P |
probably benign |
Het |
Jhy |
G |
A |
9: 40,828,674 (GRCm39) |
Q411* |
probably null |
Het |
Krt73 |
G |
A |
15: 101,708,370 (GRCm39) |
T229I |
probably damaging |
Het |
Mroh8 |
A |
G |
2: 157,113,882 (GRCm39) |
|
probably null |
Het |
Olfm1 |
A |
G |
2: 28,112,637 (GRCm39) |
T223A |
probably damaging |
Het |
Oprk1 |
T |
A |
1: 5,672,512 (GRCm39) |
D216E |
probably damaging |
Het |
Or4b1d |
T |
A |
2: 89,969,159 (GRCm39) |
E108V |
probably damaging |
Het |
Or8g23 |
A |
G |
9: 38,971,881 (GRCm39) |
L27P |
probably damaging |
Het |
Pim1 |
T |
A |
17: 29,712,777 (GRCm39) |
I230N |
probably damaging |
Het |
Ppm1f |
A |
C |
16: 16,732,035 (GRCm39) |
T162P |
possibly damaging |
Het |
Rbbp8 |
T |
C |
18: 11,838,876 (GRCm39) |
Y186H |
probably damaging |
Het |
Sema4a |
C |
T |
3: 88,357,829 (GRCm39) |
R225H |
probably damaging |
Het |
Slc15a2 |
A |
C |
16: 36,582,743 (GRCm39) |
F215C |
probably damaging |
Het |
Slc25a1 |
A |
G |
16: 17,745,490 (GRCm39) |
C41R |
possibly damaging |
Het |
Stil |
C |
A |
4: 114,880,834 (GRCm39) |
H459Q |
probably benign |
Het |
Tbc1d32 |
A |
G |
10: 55,964,499 (GRCm39) |
I900T |
possibly damaging |
Het |
Tmem33 |
T |
C |
5: 67,443,446 (GRCm39) |
F208L |
probably damaging |
Het |
Utp25 |
T |
C |
1: 192,812,367 (GRCm39) |
H31R |
probably damaging |
Het |
Vmn2r72 |
A |
G |
7: 85,387,575 (GRCm39) |
V663A |
probably damaging |
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 |
IGL01680:Dok1
|
APN |
6 |
83,008,293 (GRCm39) |
missense |
possibly damaging |
0.91 |
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 |
2014-05-07 |