Incidental Mutation 'R0536:Dok7'
| ID |
49456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dok7
|
| Ensembl Gene |
ENSMUSG00000044716 |
| Gene Name |
docking protein 7 |
| Synonyms |
Dok-7, A930013K19Rik, EF-12, Oit5 |
| MMRRC Submission |
038728-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0536 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
35214110-35245183 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35223826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 122
(T122A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050709]
[ENSMUST00000101298]
[ENSMUST00000114270]
[ENSMUST00000133381]
|
| AlphaFold |
Q18PE0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050709
AA Change: T85A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059538
Gene: ENSMUSG00000044716
AA Change: T85A
| 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 benign
Transcript: ENSMUST00000101298
|
| SMART Domains |
Protein: ENSMUSP00000098856
Gene: ENSMUSG00000044716
| 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: T122A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109909
Gene: ENSMUSG00000044716
AA Change: T122A
| 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 |
possibly damaging
Transcript: ENSMUST00000133381
AA Change: T114A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116023
Gene: ENSMUSG00000044716
AA Change: T114A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3ML4|D
|
1 |
114 |
6e-77 |
PDB |
|
Blast:PH
|
5 |
103 |
8e-65 |
BLAST |
|
SCOP:d1qqga1
|
9 |
104 |
4e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.0715 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
100% (29/29) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,171,342 (GRCm39) |
|
probably benign |
Het |
| Agrn |
A |
T |
4: 156,264,010 (GRCm39) |
D84E |
probably benign |
Het |
| Akap11 |
A |
G |
14: 78,751,464 (GRCm39) |
S308P |
probably damaging |
Het |
| Atp6v1c2 |
A |
T |
12: 17,357,509 (GRCm39) |
|
probably null |
Het |
| AW209491 |
A |
G |
13: 14,811,558 (GRCm39) |
Y137C |
probably damaging |
Het |
| Chst9 |
G |
A |
18: 15,628,387 (GRCm39) |
|
probably benign |
Het |
| Hoxb5 |
T |
C |
11: 96,194,854 (GRCm39) |
S139P |
possibly damaging |
Het |
| Ikzf4 |
T |
A |
10: 128,477,118 (GRCm39) |
E64D |
probably benign |
Het |
| Kif21a |
C |
A |
15: 90,843,886 (GRCm39) |
|
probably benign |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Lama3 |
C |
T |
18: 12,658,951 (GRCm39) |
R2036C |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,622,839 (GRCm39) |
V311D |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,820,757 (GRCm39) |
V1903A |
possibly damaging |
Het |
| Naa30 |
C |
T |
14: 49,410,534 (GRCm39) |
A154V |
possibly damaging |
Het |
| Or2ag1 |
T |
A |
7: 106,313,528 (GRCm39) |
Y120F |
probably damaging |
Het |
| Or52z12 |
T |
C |
7: 103,233,468 (GRCm39) |
S80P |
probably damaging |
Het |
| Or8g24 |
G |
T |
9: 38,989,625 (GRCm39) |
Q139K |
probably benign |
Het |
| Pgm3 |
C |
T |
9: 86,449,589 (GRCm39) |
V144M |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,701,927 (GRCm39) |
S211C |
probably damaging |
Het |
| Setx |
T |
C |
2: 29,048,260 (GRCm39) |
Y1954H |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,791,137 (GRCm39) |
Q1162* |
probably null |
Het |
| Sptbn2 |
T |
A |
19: 4,776,718 (GRCm39) |
D255E |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,145,435 (GRCm39) |
E597G |
probably damaging |
Het |
| Vldlr |
G |
A |
19: 27,217,364 (GRCm39) |
A436T |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,064,690 (GRCm39) |
G574D |
probably damaging |
Het |
| Zzz3 |
T |
G |
3: 152,154,465 (GRCm39) |
I572S |
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 |
|
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 |
|
R6047:Dok7
|
UTSW |
5 |
35,236,651 (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'- AGCTGCCTCCAACCCATGTTAGTC -3'
(R):5'- ATCAGCTCAAGTGTCCCCAGTGTC -3'
Sequencing Primer
(F):5'- ACCCATGTTAGTCTCAGGCAG -3'
(R):5'- ACGCACGGTGTACTTACAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation