Incidental Mutation 'R2369:Dok6'
ID |
246449 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dok6
|
Ensembl Gene |
ENSMUSG00000073514 |
Gene Name |
docking protein 6 |
Synonyms |
Dok-6 |
MMRRC Submission |
040349-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R2369 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
89310548-89787652 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 89432988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 274
(R274G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095103
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097495]
|
AlphaFold |
Q2MHE5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000097495
AA Change: R274G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000095103 Gene: ENSMUSG00000073514 AA Change: R274G
Domain | Start | End | E-Value | Type |
PH
|
8 |
114 |
8.99e-7 |
SMART |
PTBI
|
130 |
232 |
4.39e-45 |
SMART |
IRS
|
135 |
232 |
4.87e-41 |
SMART |
low complexity region
|
316 |
328 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1652 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700066M21Rik |
A |
T |
1: 57,421,950 (GRCm39) |
N109Y |
possibly damaging |
Het |
9230112D13Rik |
A |
T |
14: 34,233,913 (GRCm39) |
I126N |
unknown |
Het |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Ahcyl1 |
T |
C |
3: 107,577,556 (GRCm39) |
D288G |
probably damaging |
Het |
Atxn7l1 |
T |
C |
12: 33,408,849 (GRCm39) |
|
probably null |
Het |
Ccdc33 |
A |
T |
9: 57,983,913 (GRCm39) |
S220T |
probably benign |
Het |
Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
Cubn |
T |
A |
2: 13,496,028 (GRCm39) |
K69N |
probably damaging |
Het |
Dclk3 |
A |
G |
9: 111,317,610 (GRCm39) |
R749G |
probably benign |
Het |
Dip2a |
T |
C |
10: 76,149,030 (GRCm39) |
N207S |
probably benign |
Het |
Esco2 |
G |
A |
14: 66,059,189 (GRCm39) |
A496V |
probably damaging |
Het |
Gbp5 |
A |
T |
3: 142,206,480 (GRCm39) |
M55L |
possibly damaging |
Het |
Grik5 |
T |
C |
7: 24,757,962 (GRCm39) |
Y373C |
probably damaging |
Het |
Hbs1l |
T |
A |
10: 21,183,644 (GRCm39) |
S128R |
probably benign |
Het |
Ing3 |
A |
G |
6: 21,950,090 (GRCm39) |
M28V |
probably damaging |
Het |
Lmtk3 |
A |
T |
7: 45,444,512 (GRCm39) |
|
probably benign |
Het |
Met |
G |
A |
6: 17,531,527 (GRCm39) |
V602I |
probably benign |
Het |
Ndufaf7 |
C |
A |
17: 79,252,461 (GRCm39) |
A290E |
probably damaging |
Het |
Notch4 |
A |
G |
17: 34,804,924 (GRCm39) |
Q1593R |
probably benign |
Het |
Npl |
A |
G |
1: 153,394,623 (GRCm39) |
|
probably null |
Het |
Paqr6 |
T |
C |
3: 88,273,260 (GRCm39) |
L84P |
probably damaging |
Het |
Pros1 |
A |
G |
16: 62,748,432 (GRCm39) |
Y635C |
probably damaging |
Het |
Rad1 |
C |
A |
15: 10,486,745 (GRCm39) |
N47K |
probably damaging |
Het |
Rassf4 |
A |
G |
6: 116,615,258 (GRCm39) |
F304L |
probably damaging |
Het |
Tmem232 |
A |
T |
17: 65,709,992 (GRCm39) |
V432E |
probably damaging |
Het |
Wdr72 |
A |
G |
9: 74,117,457 (GRCm39) |
K723R |
possibly damaging |
Het |
Xpo7 |
G |
A |
14: 70,925,171 (GRCm39) |
R493* |
probably null |
Het |
Zfp11 |
G |
A |
5: 129,733,529 (GRCm39) |
P644L |
probably benign |
Het |
|
Other mutations in Dok6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1884:Dok6
|
UTSW |
18 |
89,492,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R1984:Dok6
|
UTSW |
18 |
89,578,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R2372:Dok6
|
UTSW |
18 |
89,432,988 (GRCm39) |
missense |
probably null |
0.00 |
R4572:Dok6
|
UTSW |
18 |
89,492,071 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4587:Dok6
|
UTSW |
18 |
89,319,320 (GRCm39) |
missense |
probably benign |
0.06 |
R4658:Dok6
|
UTSW |
18 |
89,491,971 (GRCm39) |
splice site |
probably benign |
|
R5241:Dok6
|
UTSW |
18 |
89,616,913 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5995:Dok6
|
UTSW |
18 |
89,439,142 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7498:Dok6
|
UTSW |
18 |
89,787,443 (GRCm39) |
start gained |
probably benign |
|
R7614:Dok6
|
UTSW |
18 |
89,492,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R7840:Dok6
|
UTSW |
18 |
89,578,182 (GRCm39) |
missense |
probably benign |
0.00 |
R8041:Dok6
|
UTSW |
18 |
89,578,213 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8158:Dok6
|
UTSW |
18 |
89,492,071 (GRCm39) |
missense |
probably benign |
0.09 |
R8558:Dok6
|
UTSW |
18 |
89,492,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R9046:Dok6
|
UTSW |
18 |
89,787,221 (GRCm39) |
missense |
probably benign |
0.04 |
R9352:Dok6
|
UTSW |
18 |
89,492,133 (GRCm39) |
missense |
probably benign |
0.37 |
R9629:Dok6
|
UTSW |
18 |
89,491,988 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGCACCCTGAGAAAGTTG -3'
(R):5'- TGACACAGCTATCCTTGAATAGG -3'
Sequencing Primer
(F):5'- TTGCACCCTGAGAAAGTTGATAAGTG -3'
(R):5'- ATCCTTGAATAGGGAATTATCTGGG -3'
|
Posted On |
2014-10-30 |