Incidental Mutation 'IGL01519:Dock11'
ID |
89410 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dock11
|
Ensembl Gene |
ENSMUSG00000031093 |
Gene Name |
dedicator of cytokinesis 11 |
Synonyms |
5033414A21Rik, Zizimin2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.234)
|
Stock # |
IGL01519
|
Quality Score |
|
Status
|
|
Chromosome |
X |
Chromosomal Location |
35152485-35340215 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35227006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 86
(I86V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110921
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033419]
[ENSMUST00000115266]
|
AlphaFold |
A2AF47 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033419
AA Change: I270V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000033419 Gene: ENSMUSG00000031093 AA Change: I270V
Domain | Start | End | E-Value | Type |
Pfam:DUF3398
|
52 |
145 |
4.2e-39 |
PFAM |
PH
|
166 |
274 |
1.4e-17 |
SMART |
Blast:PH
|
329 |
440 |
4e-58 |
BLAST |
Pfam:DOCK-C2
|
636 |
827 |
2.4e-53 |
PFAM |
low complexity region
|
1254 |
1270 |
N/A |
INTRINSIC |
Pfam:DHR-2
|
1510 |
2029 |
7.3e-210 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115266
AA Change: I86V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110921 Gene: ENSMUSG00000031093 AA Change: I86V
Domain | Start | End | E-Value | Type |
PH
|
1 |
90 |
6.82e-7 |
SMART |
Blast:PH
|
145 |
256 |
5e-58 |
BLAST |
Pfam:DOCK-C2
|
451 |
644 |
1.3e-60 |
PFAM |
low complexity region
|
1083 |
1099 |
N/A |
INTRINSIC |
low complexity region
|
1521 |
1529 |
N/A |
INTRINSIC |
Pfam:Ded_cyto
|
1681 |
1858 |
1.2e-68 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap17b |
T |
C |
X: 35,875,503 (GRCm39) |
D668G |
probably damaging |
Het |
Btbd3 |
A |
G |
2: 138,121,697 (GRCm39) |
M127V |
probably benign |
Het |
Btbd9 |
T |
C |
17: 30,518,575 (GRCm39) |
T462A |
possibly damaging |
Het |
Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
Chd1 |
G |
A |
17: 17,598,831 (GRCm39) |
G98R |
probably damaging |
Het |
Ckap2 |
G |
A |
8: 22,658,914 (GRCm39) |
R610C |
probably benign |
Het |
Col18a1 |
C |
T |
10: 76,895,157 (GRCm39) |
R1168H |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,460,246 (GRCm39) |
T3515I |
probably benign |
Het |
Dcn |
A |
G |
10: 97,319,385 (GRCm39) |
Q54R |
probably damaging |
Het |
Dram2 |
T |
A |
3: 106,478,945 (GRCm39) |
I179N |
possibly damaging |
Het |
Fbn1 |
C |
T |
2: 125,158,939 (GRCm39) |
M2275I |
probably benign |
Het |
Gga2 |
A |
G |
7: 121,601,411 (GRCm39) |
S231P |
probably damaging |
Het |
Gk2 |
T |
A |
5: 97,603,646 (GRCm39) |
L397F |
probably damaging |
Het |
Gm8122 |
T |
A |
14: 43,092,696 (GRCm39) |
I22L |
unknown |
Het |
Golga4 |
A |
G |
9: 118,356,160 (GRCm39) |
E104G |
probably damaging |
Het |
Herc2 |
G |
A |
7: 55,753,698 (GRCm39) |
R699H |
probably damaging |
Het |
Hrh1 |
A |
C |
6: 114,457,262 (GRCm39) |
E181A |
probably damaging |
Het |
Lsm8 |
T |
C |
6: 18,851,699 (GRCm39) |
F50S |
probably damaging |
Het |
Or1f19 |
T |
A |
16: 3,410,398 (GRCm39) |
I46N |
probably damaging |
Het |
Pard6g |
A |
G |
18: 80,123,071 (GRCm39) |
D35G |
probably benign |
Het |
Plod2 |
G |
A |
9: 92,477,348 (GRCm39) |
V347I |
probably benign |
Het |
Pramel51 |
T |
C |
12: 88,144,331 (GRCm39) |
R161G |
probably benign |
Het |
Snx13 |
T |
C |
12: 35,188,471 (GRCm39) |
|
probably benign |
Het |
Taf1 |
T |
A |
X: 100,606,412 (GRCm39) |
|
probably benign |
Het |
Tars3 |
A |
G |
7: 65,313,634 (GRCm39) |
Y351C |
probably damaging |
Het |
Tenm4 |
C |
A |
7: 96,544,384 (GRCm39) |
D2133E |
probably damaging |
Het |
Thap7 |
A |
C |
16: 17,346,609 (GRCm39) |
|
probably benign |
Het |
Tpr |
T |
A |
1: 150,306,919 (GRCm39) |
S1505T |
probably benign |
Het |
Trav9-2 |
C |
T |
14: 53,828,809 (GRCm39) |
R60W |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,708,692 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Dock11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00536:Dock11
|
APN |
X |
35,258,087 (GRCm39) |
missense |
probably benign |
0.15 |
IGL00650:Dock11
|
APN |
X |
35,270,246 (GRCm39) |
splice site |
probably benign |
|
IGL00769:Dock11
|
APN |
X |
35,267,715 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL00963:Dock11
|
APN |
X |
35,296,035 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01389:Dock11
|
APN |
X |
35,256,701 (GRCm39) |
missense |
probably benign |
0.43 |
IGL01410:Dock11
|
APN |
X |
35,301,296 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02023:Dock11
|
APN |
X |
35,232,422 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02253:Dock11
|
APN |
X |
35,304,781 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02416:Dock11
|
APN |
X |
35,283,739 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02583:Dock11
|
APN |
X |
35,270,370 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL03014:Dock11
|
APN |
X |
35,310,699 (GRCm39) |
splice site |
probably benign |
|
IGL03037:Dock11
|
APN |
X |
35,310,699 (GRCm39) |
splice site |
probably benign |
|
IGL03065:Dock11
|
APN |
X |
35,310,699 (GRCm39) |
splice site |
probably benign |
|
IGL03277:Dock11
|
APN |
X |
35,277,603 (GRCm39) |
missense |
probably benign |
0.32 |
R0816:Dock11
|
UTSW |
X |
35,283,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R0819:Dock11
|
UTSW |
X |
35,283,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R0820:Dock11
|
UTSW |
X |
35,283,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R1430:Dock11
|
UTSW |
X |
35,333,565 (GRCm39) |
missense |
probably benign |
0.00 |
R1512:Dock11
|
UTSW |
X |
35,283,688 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Dock11
|
UTSW |
X |
35,266,186 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Dock11
|
UTSW |
X |
35,248,501 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Posted On |
2013-12-03 |