Incidental Mutation 'IGL00536:Dock11'
| ID |
12587 |
| 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: 0.217)
|
| Stock # |
IGL00536
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
35152485-35340215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35258087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 644
(V644A)
|
| 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: V828A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033419
Gene: ENSMUSG00000031093
AA Change: V828A
| 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: V644A
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000110921
Gene: ENSMUSG00000031093
AA Change: V644A
| 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
C |
T |
5: 99,370,242 (GRCm39) |
C506Y |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,175,871 (GRCm39) |
E1899G |
probably damaging |
Het |
| Celsr3 |
C |
T |
9: 108,706,391 (GRCm39) |
T958I |
probably benign |
Het |
| Dyrk2 |
C |
A |
10: 118,696,097 (GRCm39) |
R387L |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,202,202 (GRCm39) |
Y308C |
probably damaging |
Het |
| Ik |
A |
T |
18: 36,889,921 (GRCm39) |
R517* |
probably null |
Het |
| Lipo4 |
T |
A |
19: 33,493,086 (GRCm39) |
Y49F |
probably damaging |
Het |
| Pura |
G |
A |
18: 36,420,943 (GRCm39) |
M243I |
probably benign |
Het |
| Rsph4a |
T |
C |
10: 33,787,652 (GRCm39) |
|
probably benign |
Het |
| Scaf4 |
G |
T |
16: 90,054,250 (GRCm39) |
P213Q |
unknown |
Het |
| Slc39a12 |
A |
T |
2: 14,400,879 (GRCm39) |
|
probably benign |
Het |
| Tex11 |
C |
T |
X: 100,076,165 (GRCm39) |
C156Y |
probably null |
Het |
| Vdac2 |
G |
A |
14: 21,888,511 (GRCm39) |
G138S |
probably benign |
Het |
| Zan |
C |
T |
5: 137,444,944 (GRCm39) |
V1772I |
unknown |
Het |
| Zscan2 |
C |
T |
7: 80,525,164 (GRCm39) |
T295M |
probably damaging |
Het |
|
| Other mutations in Dock11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation