Incidental Mutation 'R1214:Dock9'
ID |
99543 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dock9
|
Ensembl Gene |
ENSMUSG00000025558 |
Gene Name |
dedicator of cytokinesis 9 |
Synonyms |
D14Wsu89e, Zizimin1, B230309H04Rik |
MMRRC Submission |
039283-MU
|
Accession Numbers |
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1214 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
121542046-121797837 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 121586316 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 1395
(V1395I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040700]
[ENSMUST00000100299]
[ENSMUST00000212181]
[ENSMUST00000212376]
[ENSMUST00000212416]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040700
AA Change: V1404I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000047881 Gene: ENSMUSG00000025558 AA Change: V1404I
Domain | Start | End | E-Value | Type |
Pfam:DUF3398
|
58 |
151 |
5.6e-36 |
PFAM |
PH
|
172 |
280 |
1.38e-16 |
SMART |
Blast:PH
|
297 |
372 |
4e-25 |
BLAST |
Pfam:DOCK-C2
|
631 |
822 |
5.3e-51 |
PFAM |
Pfam:DHR-2
|
1523 |
2068 |
2.1e-212 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100299
AA Change: V1375I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000097872 Gene: ENSMUSG00000025558 AA Change: V1375I
Domain | Start | End | E-Value | Type |
Pfam:DUF3398
|
58 |
153 |
1.5e-32 |
PFAM |
PH
|
174 |
282 |
1.38e-16 |
SMART |
Blast:PH
|
299 |
374 |
4e-25 |
BLAST |
Pfam:DOCK-C2
|
632 |
825 |
1.3e-59 |
PFAM |
low complexity region
|
1752 |
1763 |
N/A |
INTRINSIC |
Pfam:Ded_cyto
|
1836 |
2013 |
2.4e-69 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211803
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211907
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212181
AA Change: V1405I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212283
AA Change: V1207I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212371
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212376
AA Change: V1395I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212416
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212719
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 13 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh2 |
C |
T |
5: 114,124,226 |
E148K |
probably damaging |
Het |
Dcdc2c |
A |
T |
12: 28,530,430 |
Y201* |
probably null |
Het |
Dync1h1 |
G |
A |
12: 110,636,509 |
E2195K |
probably benign |
Het |
Micall2 |
T |
C |
5: 139,711,641 |
S652G |
probably damaging |
Het |
Olfr1289 |
T |
C |
2: 111,483,892 |
F154S |
probably damaging |
Het |
Olfr1368 |
C |
T |
13: 21,142,167 |
V297I |
probably benign |
Het |
Olfr341 |
G |
T |
2: 36,479,969 |
H54N |
possibly damaging |
Het |
Ptpre |
A |
T |
7: 135,679,258 |
S643C |
probably damaging |
Het |
Slc26a5 |
T |
A |
5: 21,814,983 |
I530F |
probably damaging |
Het |
Slfn5 |
A |
G |
11: 82,960,091 |
M405V |
probably benign |
Het |
Ttc29 |
A |
G |
8: 78,325,582 |
Y364C |
probably damaging |
Het |
Wasf3 |
G |
A |
5: 146,470,288 |
V473M |
probably damaging |
Het |
Zcchc6 |
A |
G |
13: 59,805,326 |
V100A |
possibly damaging |
Het |
|
Other mutations in Dock9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00236:Dock9
|
APN |
14 |
121668468 |
missense |
probably benign |
0.12 |
IGL00817:Dock9
|
APN |
14 |
121698291 |
missense |
probably damaging |
0.96 |
IGL00923:Dock9
|
APN |
14 |
121607092 |
unclassified |
probably benign |
|
IGL01385:Dock9
|
APN |
14 |
121580583 |
missense |
possibly damaging |
0.94 |
IGL01567:Dock9
|
APN |
14 |
121653084 |
missense |
probably damaging |
1.00 |
IGL01767:Dock9
|
APN |
14 |
121622870 |
missense |
possibly damaging |
0.91 |
IGL01811:Dock9
|
APN |
14 |
121559028 |
missense |
probably damaging |
1.00 |
IGL02512:Dock9
|
APN |
14 |
121619538 |
splice site |
probably benign |
|
IGL02525:Dock9
|
APN |
14 |
121640126 |
missense |
probably damaging |
1.00 |
IGL02550:Dock9
|
APN |
14 |
121698312 |
start codon destroyed |
probably null |
0.07 |
IGL02559:Dock9
|
APN |
14 |
121625147 |
splice site |
probably benign |
|
IGL02666:Dock9
|
APN |
14 |
121580699 |
missense |
probably benign |
0.42 |
IGL02674:Dock9
|
APN |
14 |
121595611 |
splice site |
probably null |
|
IGL02795:Dock9
|
APN |
14 |
121639978 |
missense |
probably benign |
0.04 |
IGL03074:Dock9
|
APN |
14 |
121607270 |
missense |
possibly damaging |
0.95 |
IGL03095:Dock9
|
APN |
14 |
121639528 |
missense |
probably damaging |
1.00 |
IGL03294:Dock9
|
APN |
14 |
121641623 |
splice site |
probably benign |
|
R0036:Dock9
|
UTSW |
14 |
121622853 |
missense |
probably damaging |
1.00 |
R0050:Dock9
|
UTSW |
14 |
121607225 |
missense |
probably benign |
0.43 |
R0050:Dock9
|
UTSW |
14 |
121607225 |
missense |
probably benign |
0.43 |
R0164:Dock9
|
UTSW |
14 |
121597665 |
missense |
probably damaging |
1.00 |
R0164:Dock9
|
UTSW |
14 |
121597665 |
missense |
probably damaging |
1.00 |
R0270:Dock9
|
UTSW |
14 |
121575999 |
missense |
probably benign |
0.02 |
R0494:Dock9
|
UTSW |
14 |
121662584 |
missense |
possibly damaging |
0.64 |
R0726:Dock9
|
UTSW |
14 |
121651768 |
nonsense |
probably null |
|
R1029:Dock9
|
UTSW |
14 |
121599684 |
splice site |
probably null |
|
R1231:Dock9
|
UTSW |
14 |
121575950 |
missense |
possibly damaging |
0.61 |
R1535:Dock9
|
UTSW |
14 |
121546064 |
missense |
probably damaging |
1.00 |
R1629:Dock9
|
UTSW |
14 |
121543574 |
missense |
possibly damaging |
0.88 |
R1637:Dock9
|
UTSW |
14 |
121651775 |
missense |
possibly damaging |
0.66 |
R1733:Dock9
|
UTSW |
14 |
121626880 |
missense |
probably benign |
0.01 |
R1772:Dock9
|
UTSW |
14 |
121609798 |
missense |
probably benign |
0.07 |
R1855:Dock9
|
UTSW |
14 |
121640159 |
missense |
probably damaging |
1.00 |
R1888:Dock9
|
UTSW |
14 |
121625205 |
missense |
probably benign |
0.18 |
R1888:Dock9
|
UTSW |
14 |
121625205 |
missense |
probably benign |
0.18 |
R1901:Dock9
|
UTSW |
14 |
121625153 |
splice site |
probably null |
|
R1920:Dock9
|
UTSW |
14 |
121583380 |
missense |
probably damaging |
1.00 |
R1987:Dock9
|
UTSW |
14 |
121591830 |
missense |
probably benign |
0.00 |
R3035:Dock9
|
UTSW |
14 |
121606837 |
missense |
possibly damaging |
0.60 |
R3851:Dock9
|
UTSW |
14 |
121629086 |
splice site |
probably null |
|
R4020:Dock9
|
UTSW |
14 |
121606855 |
missense |
probably benign |
0.00 |
R4021:Dock9
|
UTSW |
14 |
121626912 |
missense |
possibly damaging |
0.80 |
R4089:Dock9
|
UTSW |
14 |
121583471 |
missense |
probably damaging |
1.00 |
R4258:Dock9
|
UTSW |
14 |
121581442 |
missense |
probably benign |
0.00 |
R4423:Dock9
|
UTSW |
14 |
121562053 |
critical splice donor site |
probably null |
|
R4561:Dock9
|
UTSW |
14 |
121559007 |
missense |
probably benign |
0.01 |
R4604:Dock9
|
UTSW |
14 |
121668459 |
missense |
probably damaging |
1.00 |
R4646:Dock9
|
UTSW |
14 |
121586246 |
missense |
probably damaging |
1.00 |
R4647:Dock9
|
UTSW |
14 |
121586246 |
missense |
probably damaging |
1.00 |
R4776:Dock9
|
UTSW |
14 |
121610097 |
missense |
possibly damaging |
0.81 |
R4809:Dock9
|
UTSW |
14 |
121546596 |
missense |
probably benign |
0.37 |
R4865:Dock9
|
UTSW |
14 |
121543505 |
makesense |
probably null |
|
R4951:Dock9
|
UTSW |
14 |
121653135 |
missense |
probably benign |
0.35 |
R5151:Dock9
|
UTSW |
14 |
121578170 |
missense |
probably damaging |
1.00 |
R5359:Dock9
|
UTSW |
14 |
121653060 |
missense |
possibly damaging |
0.69 |
R5366:Dock9
|
UTSW |
14 |
121578203 |
missense |
probably damaging |
1.00 |
R5502:Dock9
|
UTSW |
14 |
121610182 |
splice site |
probably null |
|
R5579:Dock9
|
UTSW |
14 |
121599695 |
missense |
probably damaging |
1.00 |
R5753:Dock9
|
UTSW |
14 |
121634625 |
missense |
probably benign |
0.05 |
R5836:Dock9
|
UTSW |
14 |
121681351 |
missense |
probably damaging |
1.00 |
R5858:Dock9
|
UTSW |
14 |
121628792 |
missense |
probably benign |
0.00 |
R5890:Dock9
|
UTSW |
14 |
121668408 |
critical splice donor site |
probably null |
|
R6075:Dock9
|
UTSW |
14 |
121545973 |
missense |
probably benign |
|
R6298:Dock9
|
UTSW |
14 |
121634594 |
missense |
probably damaging |
1.00 |
R6306:Dock9
|
UTSW |
14 |
121562080 |
missense |
probably damaging |
1.00 |
R6321:Dock9
|
UTSW |
14 |
121546021 |
missense |
probably damaging |
1.00 |
R6330:Dock9
|
UTSW |
14 |
121605243 |
start codon destroyed |
probably null |
0.00 |
R6719:Dock9
|
UTSW |
14 |
121610027 |
missense |
probably damaging |
1.00 |
R6784:Dock9
|
UTSW |
14 |
121543514 |
missense |
probably damaging |
1.00 |
R6826:Dock9
|
UTSW |
14 |
121622918 |
missense |
probably damaging |
1.00 |
R6830:Dock9
|
UTSW |
14 |
121622918 |
missense |
probably damaging |
1.00 |
R6838:Dock9
|
UTSW |
14 |
121546596 |
missense |
possibly damaging |
0.71 |
R6868:Dock9
|
UTSW |
14 |
121586264 |
missense |
probably benign |
0.37 |
R6919:Dock9
|
UTSW |
14 |
121643152 |
missense |
probably benign |
0.42 |
R6989:Dock9
|
UTSW |
14 |
121627379 |
missense |
probably damaging |
1.00 |
R7539:Dock9
|
UTSW |
14 |
121581436 |
missense |
probably damaging |
1.00 |
R7645:Dock9
|
UTSW |
14 |
121597663 |
missense |
probably benign |
0.44 |
R7875:Dock9
|
UTSW |
14 |
121625984 |
nonsense |
probably null |
|
R7900:Dock9
|
UTSW |
14 |
121546079 |
missense |
possibly damaging |
0.84 |
R8040:Dock9
|
UTSW |
14 |
121651794 |
missense |
probably benign |
0.06 |
R8420:Dock9
|
UTSW |
14 |
121546042 |
missense |
probably damaging |
1.00 |
R8511:Dock9
|
UTSW |
14 |
121627389 |
missense |
probably benign |
0.40 |
R8511:Dock9
|
UTSW |
14 |
121681435 |
missense |
probably damaging |
1.00 |
R8514:Dock9
|
UTSW |
14 |
121658787 |
missense |
probably benign |
0.25 |
R8691:Dock9
|
UTSW |
14 |
121640105 |
missense |
possibly damaging |
0.49 |
R8804:Dock9
|
UTSW |
14 |
121605183 |
missense |
probably damaging |
0.98 |
R8894:Dock9
|
UTSW |
14 |
121622961 |
missense |
probably benign |
0.10 |
R8900:Dock9
|
UTSW |
14 |
121580528 |
missense |
probably damaging |
1.00 |
R9069:Dock9
|
UTSW |
14 |
121628912 |
missense |
probably damaging |
0.98 |
R9218:Dock9
|
UTSW |
14 |
121668459 |
missense |
probably damaging |
1.00 |
R9233:Dock9
|
UTSW |
14 |
121583369 |
missense |
probably benign |
0.09 |
R9236:Dock9
|
UTSW |
14 |
121639558 |
missense |
probably damaging |
1.00 |
R9285:Dock9
|
UTSW |
14 |
121595600 |
missense |
probably benign |
|
R9451:Dock9
|
UTSW |
14 |
121550189 |
splice site |
probably benign |
|
R9461:Dock9
|
UTSW |
14 |
121605189 |
missense |
probably benign |
0.05 |
R9484:Dock9
|
UTSW |
14 |
121581432 |
missense |
probably damaging |
1.00 |
R9517:Dock9
|
UTSW |
14 |
121591824 |
missense |
probably benign |
0.07 |
R9542:Dock9
|
UTSW |
14 |
121627363 |
missense |
probably damaging |
1.00 |
R9694:Dock9
|
UTSW |
14 |
121581379 |
missense |
probably damaging |
1.00 |
R9701:Dock9
|
UTSW |
14 |
121639571 |
missense |
probably benign |
0.01 |
R9703:Dock9
|
UTSW |
14 |
121544577 |
makesense |
probably null |
|
R9726:Dock9
|
UTSW |
14 |
121597737 |
missense |
possibly damaging |
0.61 |
R9741:Dock9
|
UTSW |
14 |
121640104 |
missense |
probably damaging |
1.00 |
Z1088:Dock9
|
UTSW |
14 |
121555275 |
missense |
probably damaging |
1.00 |
Z1176:Dock9
|
UTSW |
14 |
121651782 |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CGGGAATGCTGCATTAAGGGAACC -3'
(R):5'- AGCTGAAACAGATGCTCCATGAATGAC -3'
Sequencing Primer
(F):5'- CTGCATTAAGGGAACCTTAAGAC -3'
(R):5'- TTATTAATGCCACCTCCCTACAGAG -3'
|
Posted On |
2014-01-15 |