Incidental Mutation 'IGL02706:Dok1'
| ID |
304352 |
| 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 # |
IGL02706
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
83007915-83010448 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83009315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 179
(E179V)
|
| 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: E179V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087079
Gene: ENSMUSG00000068335
AA Change: E179V
| 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 damaging
Transcript: ENSMUST00000204900
AA Change: E36V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,517,966 (GRCm39) |
E781G |
probably benign |
Het |
| Abcc8 |
C |
T |
7: 45,816,345 (GRCm39) |
R265Q |
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,370,027 (GRCm39) |
I193N |
probably benign |
Het |
| Atp6v1e2 |
A |
G |
17: 87,252,362 (GRCm39) |
I12T |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,347,818 (GRCm39) |
T757A |
probably damaging |
Het |
| Cldn15 |
A |
G |
5: 137,003,685 (GRCm39) |
K200R |
probably benign |
Het |
| Dip2b |
G |
T |
15: 100,113,192 (GRCm39) |
V1302F |
probably damaging |
Het |
| Dnajb6 |
T |
A |
5: 29,957,421 (GRCm39) |
Y68N |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,403,482 (GRCm39) |
T342A |
probably damaging |
Het |
| Etf1 |
A |
T |
18: 35,064,690 (GRCm39) |
S6R |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,250,506 (GRCm39) |
I987V |
probably benign |
Het |
| Gba2 |
C |
T |
4: 43,567,257 (GRCm39) |
G897S |
probably benign |
Het |
| Habp2 |
G |
T |
19: 56,298,570 (GRCm39) |
|
probably null |
Het |
| Hapln1 |
G |
T |
13: 89,753,578 (GRCm39) |
S248I |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,137,198 (GRCm39) |
D667G |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,359,222 (GRCm39) |
H1074L |
probably damaging |
Het |
| Kctd9 |
T |
C |
14: 67,962,130 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
A |
G |
17: 68,793,914 (GRCm39) |
D306G |
probably damaging |
Het |
| Lgalsl |
T |
C |
11: 20,780,090 (GRCm39) |
R49G |
probably damaging |
Het |
| Lpo |
C |
T |
11: 87,708,599 (GRCm39) |
S133N |
probably benign |
Het |
| Lrp8 |
A |
T |
4: 107,660,516 (GRCm39) |
R59* |
probably null |
Het |
| Mctp1 |
T |
C |
13: 76,971,188 (GRCm39) |
F629S |
probably damaging |
Het |
| Med1 |
A |
G |
11: 98,047,533 (GRCm39) |
|
probably benign |
Het |
| Nbea |
T |
C |
3: 55,944,699 (GRCm39) |
H555R |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,522,147 (GRCm39) |
H630R |
possibly damaging |
Het |
| Nr3c2 |
A |
T |
8: 77,635,045 (GRCm39) |
|
probably null |
Het |
| Nubp2 |
A |
T |
17: 25,102,171 (GRCm39) |
V267E |
probably benign |
Het |
| Oacyl |
A |
T |
18: 65,882,792 (GRCm39) |
Y629F |
probably damaging |
Het |
| Or1n1b |
A |
G |
2: 36,780,731 (GRCm39) |
I43T |
probably damaging |
Het |
| Or1x2 |
T |
A |
11: 50,918,091 (GRCm39) |
H87Q |
probably damaging |
Het |
| Or5b119 |
A |
T |
19: 13,457,462 (GRCm39) |
Y33* |
probably null |
Het |
| Pknox2 |
T |
C |
9: 36,847,675 (GRCm39) |
H114R |
probably benign |
Het |
| Ppp2r1b |
A |
G |
9: 50,790,134 (GRCm39) |
D564G |
possibly damaging |
Het |
| Ppp3ca |
T |
G |
3: 136,611,079 (GRCm39) |
N367K |
possibly damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,852,518 (GRCm39) |
V525A |
probably damaging |
Het |
| Reps1 |
T |
G |
10: 17,998,763 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,444,207 (GRCm39) |
I973V |
possibly damaging |
Het |
| Ssh2 |
T |
A |
11: 77,344,232 (GRCm39) |
V739D |
possibly damaging |
Het |
| Tbc1d24 |
A |
G |
17: 24,404,395 (GRCm39) |
F250L |
probably benign |
Het |
| Ube3a |
T |
A |
7: 58,921,881 (GRCm39) |
H84Q |
possibly damaging |
Het |
| Usp34 |
T |
C |
11: 23,338,659 (GRCm39) |
|
probably benign |
Het |
| Zdhhc8 |
G |
T |
16: 18,042,758 (GRCm39) |
L481I |
probably damaging |
Het |
| Zfp574 |
A |
G |
7: 24,780,790 (GRCm39) |
H604R |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,076,256 (GRCm39) |
M63K |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation