Incidental Mutation 'IGL01389:Dock11'
| ID |
79155 |
| 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 # |
IGL01389
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
35152485-35340215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35256701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 576
(V576A)
|
| 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: V760A
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000033419
Gene: ENSMUSG00000031093
AA Change: V760A
| 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: V576A
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110921
Gene: ENSMUSG00000031093
AA Change: V576A
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc163 |
T |
C |
4: 116,568,503 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
T |
G |
7: 17,481,300 (GRCm39) |
V349G |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,656,197 (GRCm39) |
D169E |
probably benign |
Het |
| Cfh |
G |
T |
1: 140,082,377 (GRCm39) |
T150K |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,559,975 (GRCm39) |
M859V |
possibly damaging |
Het |
| Clca3a2 |
C |
T |
3: 144,783,629 (GRCm39) |
|
probably null |
Het |
| Crocc |
T |
C |
4: 140,749,423 (GRCm39) |
E1536G |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,588,652 (GRCm39) |
V67A |
probably benign |
Het |
| Ighv1-85 |
A |
G |
12: 115,963,671 (GRCm39) |
S110P |
probably damaging |
Het |
| Lyg1 |
G |
A |
1: 37,989,011 (GRCm39) |
P70S |
probably damaging |
Het |
| Numbl |
T |
G |
7: 26,980,472 (GRCm39) |
F485V |
possibly damaging |
Het |
| Or4x6 |
A |
T |
2: 89,949,412 (GRCm39) |
C177S |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,764,535 (GRCm39) |
E1051G |
probably damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,374,712 (GRCm39) |
S1808G |
possibly damaging |
Het |
| Rad51b |
T |
A |
12: 79,349,327 (GRCm39) |
H54Q |
probably benign |
Het |
| Rbbp7 |
T |
C |
X: 161,552,939 (GRCm39) |
|
probably benign |
Het |
| Rhbdl2 |
G |
T |
4: 123,723,450 (GRCm39) |
V285L |
probably benign |
Het |
| Slc22a16 |
T |
A |
10: 40,461,131 (GRCm39) |
M311K |
probably damaging |
Het |
| Slc22a21 |
A |
G |
11: 53,870,407 (GRCm39) |
S93P |
probably damaging |
Het |
| Stt3b |
T |
C |
9: 115,082,968 (GRCm39) |
E488G |
probably benign |
Het |
| Tas2r108 |
A |
G |
6: 40,470,866 (GRCm39) |
H114R |
possibly damaging |
Het |
| Tcaim |
A |
G |
9: 122,643,627 (GRCm39) |
E109G |
possibly damaging |
Het |
| Tsc22d2 |
A |
G |
3: 58,323,659 (GRCm39) |
T184A |
probably damaging |
Het |
| Vmn2r2 |
G |
T |
3: 64,024,430 (GRCm39) |
T717N |
probably damaging |
Het |
| Vps25 |
C |
T |
11: 101,144,861 (GRCm39) |
Q20* |
probably null |
Het |
| Xiap |
T |
C |
X: 41,183,429 (GRCm39) |
F52L |
probably damaging |
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 |
|
IGL01410:Dock11
|
APN |
X |
35,301,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01519:Dock11
|
APN |
X |
35,227,006 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-11-05 |
Incidental Mutation