Incidental Mutation 'R1306:Dok3'
| ID |
157809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dok3
|
| Ensembl Gene |
ENSMUSG00000035711 |
| Gene Name |
docking protein 3 |
| Synonyms |
p62Dok-like protein |
| MMRRC Submission |
039372-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R1306 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55671044-55677109 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 55675261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 86
(E86*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021956]
[ENSMUST00000047877]
[ENSMUST00000223563]
[ENSMUST00000224765]
|
| AlphaFold |
Q9QZK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021956
|
| SMART Domains |
Protein: ENSMUSP00000021956
Gene: ENSMUSG00000021494
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
115 |
N/A |
INTRINSIC |
|
DEXDc
|
200 |
411 |
8.56e-53 |
SMART |
|
HELICc
|
446 |
527 |
5.99e-34 |
SMART |
|
ZnF_C2HC
|
581 |
597 |
1.98e-2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000047877
AA Change: E86*
|
| SMART Domains |
Protein: ENSMUSP00000046695
Gene: ENSMUSG00000035711
AA Change: E86*
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
7 |
125 |
3.54e-5 |
SMART |
|
IRS
|
157 |
256 |
1.61e-41 |
SMART |
|
PTBI
|
158 |
256 |
2.59e-24 |
SMART |
|
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
421 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223563
AA Change: E86*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224765
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 89.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased incidence of lung adenocarcinomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
T |
A |
7: 80,743,621 (GRCm39) |
L1146H |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,024,239 (GRCm39) |
I121M |
probably benign |
Het |
| Atg2a |
A |
T |
19: 6,303,051 (GRCm39) |
T1053S |
probably benign |
Het |
| Bend5 |
C |
T |
4: 111,316,970 (GRCm39) |
Q127* |
probably null |
Het |
| Ccser1 |
G |
A |
6: 62,357,090 (GRCm39) |
D843N |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,178,472 (GRCm39) |
T512A |
probably benign |
Het |
| Dnmbp |
A |
T |
19: 43,890,218 (GRCm39) |
D516E |
probably benign |
Het |
| Fat3 |
A |
G |
9: 16,287,975 (GRCm39) |
I516T |
probably damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,366,882 (GRCm39) |
|
probably null |
Het |
| Gjd2 |
T |
C |
2: 113,842,346 (GRCm39) |
T44A |
probably damaging |
Het |
| Mcm7 |
C |
A |
5: 138,165,465 (GRCm39) |
A480S |
probably damaging |
Het |
| Meox2 |
GCACCACCACCACCACCACCA |
GCACCACCACCACCACCA |
12: 37,159,030 (GRCm39) |
|
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,239,427 (GRCm39) |
H967R |
possibly damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,718,154 (GRCm39) |
N227S |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,792,146 (GRCm39) |
S1278P |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,091,597 (GRCm39) |
E71G |
probably damaging |
Het |
| Pnma8a |
A |
G |
7: 16,695,950 (GRCm39) |
R428G |
probably benign |
Het |
| Sertad2 |
T |
C |
11: 20,598,388 (GRCm39) |
S195P |
probably benign |
Het |
| Slc19a3 |
A |
G |
1: 83,000,483 (GRCm39) |
L178S |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,748,388 (GRCm39) |
D139G |
possibly damaging |
Het |
| Tm4sf19 |
G |
A |
16: 32,226,720 (GRCm39) |
V170M |
probably damaging |
Het |
| Vwa3a |
C |
G |
7: 120,399,613 (GRCm39) |
S1031R |
possibly damaging |
Het |
|
| Other mutations in Dok3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01837:Dok3
|
APN |
13 |
55,671,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02088:Dok3
|
APN |
13 |
55,672,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02218:Dok3
|
APN |
13 |
55,671,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02656:Dok3
|
APN |
13 |
55,676,293 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03410:Dok3
|
APN |
13 |
55,672,044 (GRCm39) |
nonsense |
probably null |
|
|
R0601:Dok3
|
UTSW |
13 |
55,672,076 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1749:Dok3
|
UTSW |
13 |
55,672,168 (GRCm39) |
frame shift |
probably null |
|
|
R3684:Dok3
|
UTSW |
13 |
55,672,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Dok3
|
UTSW |
13 |
55,671,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Dok3
|
UTSW |
13 |
55,671,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7021:Dok3
|
UTSW |
13 |
55,672,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7526:Dok3
|
UTSW |
13 |
55,675,306 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8379:Dok3
|
UTSW |
13 |
55,671,833 (GRCm39) |
missense |
probably benign |
|
|
R8983:Dok3
|
UTSW |
13 |
55,671,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Dok3
|
UTSW |
13 |
55,672,186 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9585:Dok3
|
UTSW |
13 |
55,672,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAGGATCTGACTAAGCAAGGAC -3'
(R):5'- TAAGCAGCTTGCACAGAGCCAAAGG -3'
Sequencing Primer
(F):5'- TCTGACTAAGCAAGGACATGGG -3'
(R):5'- AGGGTCTCCTTTCTTACAGAAATGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation