Incidental Mutation 'R6047:Dok7'
| ID |
506159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dok7
|
| Ensembl Gene |
ENSMUSG00000044716 |
| Gene Name |
docking protein 7 |
| Synonyms |
Dok-7, A930013K19Rik, EF-12, Oit5 |
| MMRRC Submission |
044215-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6047 (G1)
|
| Quality Score |
70.0074 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
35214110-35245183 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35236651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 206
(G206D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050709]
[ENSMUST00000101298]
[ENSMUST00000114270]
|
| AlphaFold |
Q18PE0 |
| PDB Structure |
Crystal structure of a complex between Dok7 PH-PTB and the MuSK juxtamembrane region [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050709
AA Change: G313D
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000059538
Gene: ENSMUSG00000044716
AA Change: G313D
| Domain | Start | End | E-Value | Type |
|---|
|
IRS
|
73 |
168 |
3.15e-26 |
SMART |
|
low complexity region
|
212 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101298
AA Change: G206D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098856
Gene: ENSMUSG00000044716
AA Change: G206D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
5 |
49 |
2e-11 |
BLAST |
|
PDB:3ML4|D
|
35 |
76 |
4e-20 |
PDB |
|
low complexity region
|
105 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114270
AA Change: G350D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109909
Gene: ENSMUSG00000044716
AA Change: G350D
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
5 |
111 |
7.9e-3 |
SMART |
|
IRS
|
110 |
205 |
3.15e-26 |
SMART |
|
low complexity region
|
249 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155097
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (36/36) |
| 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 essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutation of this gene results in death shortly after birth, impaired neuromuscular synaptogenesis and akinesia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,856,066 (GRCm39) |
I58T |
probably damaging |
Het |
| Adgrb2 |
G |
T |
4: 129,912,498 (GRCm39) |
G1208C |
probably damaging |
Het |
| Antxrl |
T |
C |
14: 33,775,433 (GRCm39) |
|
probably benign |
Het |
| Appl2 |
C |
T |
10: 83,448,765 (GRCm39) |
|
probably null |
Het |
| Bloc1s2 |
T |
C |
19: 44,130,629 (GRCm39) |
I112V |
possibly damaging |
Het |
| Cblb |
G |
T |
16: 51,932,611 (GRCm39) |
|
probably null |
Het |
| Cdk9 |
T |
C |
2: 32,598,285 (GRCm39) |
|
probably null |
Het |
| Ftsj3 |
C |
T |
11: 106,143,144 (GRCm39) |
R390H |
probably damaging |
Het |
| Gpr179 |
G |
T |
11: 97,229,242 (GRCm39) |
P971Q |
probably damaging |
Het |
| Hic1 |
A |
T |
11: 75,057,675 (GRCm39) |
S405T |
possibly damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,482,061 (GRCm39) |
L217P |
probably damaging |
Het |
| Insrr |
A |
G |
3: 87,711,483 (GRCm39) |
K468E |
probably damaging |
Het |
| Lce1j |
G |
C |
3: 92,696,503 (GRCm39) |
R92G |
unknown |
Het |
| Lrp12 |
T |
C |
15: 39,735,463 (GRCm39) |
E823G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,527,787 (GRCm39) |
I98T |
probably benign |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,212 (GRCm39) |
H179L |
possibly damaging |
Het |
| Med24 |
A |
T |
11: 98,598,591 (GRCm39) |
C691* |
probably null |
Het |
| Mical1 |
T |
C |
10: 41,357,703 (GRCm39) |
|
probably null |
Het |
| Msantd2 |
A |
T |
9: 37,434,738 (GRCm39) |
Y326F |
probably damaging |
Het |
| Nfyc |
T |
A |
4: 120,636,314 (GRCm39) |
|
probably null |
Het |
| Nrg3 |
T |
A |
14: 38,119,309 (GRCm39) |
|
probably null |
Het |
| Nt5c3 |
G |
A |
6: 56,859,964 (GRCm39) |
S291L |
probably damaging |
Het |
| Pak4 |
A |
G |
7: 28,262,461 (GRCm39) |
Y384H |
probably benign |
Het |
| Pdia5 |
T |
C |
16: 35,217,848 (GRCm39) |
K512E |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,406,597 (GRCm39) |
F283L |
probably damaging |
Het |
| Pick1 |
A |
G |
15: 79,139,895 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,814,059 (GRCm39) |
V4143A |
probably damaging |
Het |
| Ptprc |
C |
T |
1: 138,028,779 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,451,897 (GRCm39) |
F1342S |
probably benign |
Het |
| Slc17a7 |
A |
T |
7: 44,822,830 (GRCm39) |
I436F |
probably benign |
Het |
| Slc34a1 |
G |
T |
13: 55,559,884 (GRCm39) |
A403S |
probably damaging |
Het |
| Stmn3 |
A |
T |
2: 180,950,952 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Tldc2 |
A |
G |
2: 156,938,382 (GRCm39) |
E207G |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,027,717 (GRCm39) |
N436S |
probably damaging |
Het |
| Uty |
G |
T |
Y: 1,158,288 (GRCm39) |
P538Q |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,756,921 (GRCm39) |
D1142G |
probably damaging |
Het |
|
| Other mutations in Dok7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01309:Dok7
|
APN |
5 |
35,236,912 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
P0022:Dok7
|
UTSW |
5 |
35,232,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Dok7
|
UTSW |
5 |
35,221,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Dok7
|
UTSW |
5 |
35,223,806 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0536:Dok7
|
UTSW |
5 |
35,223,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0800:Dok7
|
UTSW |
5 |
35,232,633 (GRCm39) |
splice site |
probably benign |
|
|
R1533:Dok7
|
UTSW |
5 |
35,221,671 (GRCm39) |
splice site |
probably null |
|
|
R1659:Dok7
|
UTSW |
5 |
35,236,483 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1772:Dok7
|
UTSW |
5 |
35,243,994 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1969:Dok7
|
UTSW |
5 |
35,234,610 (GRCm39) |
splice site |
probably null |
|
|
R4321:Dok7
|
UTSW |
5 |
35,237,141 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5864:Dok7
|
UTSW |
5 |
35,223,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6773:Dok7
|
UTSW |
5 |
35,234,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Dok7
|
UTSW |
5 |
35,236,899 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7129:Dok7
|
UTSW |
5 |
35,236,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Dok7
|
UTSW |
5 |
35,221,866 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7399:Dok7
|
UTSW |
5 |
35,223,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Dok7
|
UTSW |
5 |
35,223,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7851:Dok7
|
UTSW |
5 |
35,214,280 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
R8127:Dok7
|
UTSW |
5 |
35,244,345 (GRCm39) |
missense |
probably benign |
|
|
R8772:Dok7
|
UTSW |
5 |
35,234,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9028:Dok7
|
UTSW |
5 |
35,236,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9272:Dok7
|
UTSW |
5 |
35,214,239 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAGGGGATGACAGAAGTC -3'
(R):5'- GTCATAGTGGTGTCTCAGTGAC -3'
Sequencing Primer
(F):5'- GGATGACAGAAGTCTATCCAGTTCC -3'
(R):5'- TCTCAGTGACGTGGGCAC -3'
|
| Posted On |
2018-03-01 |
Incidental Mutation