Incidental Mutation 'IGL00421:Dok5'
| ID |
6954 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dok5
|
| Ensembl Gene |
ENSMUSG00000027560 |
| Gene Name |
docking protein 5 |
| Synonyms |
2700055C10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00421
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
170573727-170721689 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 170671876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029075]
|
| AlphaFold |
Q91ZM9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029075
|
| SMART Domains |
Protein: ENSMUSP00000029075
Gene: ENSMUSG00000027560
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
8 |
114 |
2.37e-6 |
SMART |
|
PTBI
|
130 |
232 |
2.36e-36 |
SMART |
|
IRS
|
135 |
232 |
2.86e-38 |
SMART |
|
| 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 a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This protein is up-regulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like growth factor binding protein 5. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
T |
C |
17: 32,536,254 (GRCm39) |
Y53C |
probably damaging |
Het |
| Ampd3 |
C |
T |
7: 110,402,354 (GRCm39) |
R453C |
probably benign |
Het |
| Apob |
A |
C |
12: 8,060,197 (GRCm39) |
D2860A |
probably damaging |
Het |
| Arhgef1 |
C |
A |
7: 24,607,784 (GRCm39) |
R52S |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Cacna1i |
A |
T |
15: 80,266,220 (GRCm39) |
D1569V |
probably damaging |
Het |
| Clic6 |
A |
T |
16: 92,296,196 (GRCm39) |
E285D |
probably damaging |
Het |
| Gpr89 |
A |
G |
3: 96,805,839 (GRCm39) |
F24S |
probably damaging |
Het |
| Grsf1 |
T |
C |
5: 88,818,137 (GRCm39) |
D84G |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,491,703 (GRCm39) |
K479E |
probably damaging |
Het |
| Mx2 |
A |
T |
16: 97,345,678 (GRCm39) |
N32I |
probably damaging |
Het |
| Myo16 |
G |
T |
8: 10,488,889 (GRCm39) |
V687F |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,456,769 (GRCm39) |
D977G |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,123,374 (GRCm39) |
V97E |
possibly damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,021,177 (GRCm39) |
Y130* |
probably null |
Het |
| Pnpla7 |
T |
A |
2: 24,866,327 (GRCm39) |
|
probably null |
Het |
| Pramel51 |
A |
T |
12: 88,143,882 (GRCm39) |
D310E |
probably benign |
Het |
| Prcc |
A |
T |
3: 87,779,515 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
A |
C |
7: 109,975,039 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
A |
2: 125,585,776 (GRCm39) |
V859F |
probably damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,774,733 (GRCm39) |
Q129K |
possibly damaging |
Het |
| Srrm2 |
G |
A |
17: 24,031,452 (GRCm39) |
S295N |
probably benign |
Het |
| Tacr3 |
A |
C |
3: 134,560,582 (GRCm39) |
I174L |
probably benign |
Het |
| Tchp |
A |
C |
5: 114,846,794 (GRCm39) |
D27A |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,247,873 (GRCm39) |
V1190D |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,023,576 (GRCm39) |
T2122A |
probably benign |
Het |
|
| Other mutations in Dok5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03224:Dok5
|
APN |
2 |
170,674,807 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0413:Dok5
|
UTSW |
2 |
170,671,880 (GRCm39) |
splice site |
probably benign |
|
|
R1522:Dok5
|
UTSW |
2 |
170,574,052 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1748:Dok5
|
UTSW |
2 |
170,683,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Dok5
|
UTSW |
2 |
170,642,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Dok5
|
UTSW |
2 |
170,642,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2154:Dok5
|
UTSW |
2 |
170,642,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Dok5
|
UTSW |
2 |
170,672,042 (GRCm39) |
nonsense |
probably null |
|
|
R6022:Dok5
|
UTSW |
2 |
170,721,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6189:Dok5
|
UTSW |
2 |
170,642,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6403:Dok5
|
UTSW |
2 |
170,671,820 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7457:Dok5
|
UTSW |
2 |
170,712,735 (GRCm39) |
missense |
probably benign |
|
|
R7684:Dok5
|
UTSW |
2 |
170,683,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7954:Dok5
|
UTSW |
2 |
170,674,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8246:Dok5
|
UTSW |
2 |
170,642,813 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9286:Dok5
|
UTSW |
2 |
170,672,099 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Posted On |
2012-04-20 |
Incidental Mutation