Incidental Mutation 'R0816:Dock11'
ID |
78612 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dock11
|
Ensembl Gene |
ENSMUSG00000031093 |
Gene Name |
dedicator of cytokinesis 11 |
Synonyms |
5033414A21Rik, Zizimin2 |
MMRRC Submission |
038996-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.217)
|
Stock # |
R0816 (G1)
|
Quality Score |
222 |
Status
|
Not validated
|
Chromosome |
X |
Chromosomal Location |
35152485-35340215 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 35283688 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 1102
(R1102H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110921
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033419]
[ENSMUST00000115266]
|
AlphaFold |
A2AF47 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033419
AA Change: R1273H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000033419 Gene: ENSMUSG00000031093 AA Change: R1273H
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 damaging
Transcript: ENSMUST00000115266
AA Change: R1102H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110921 Gene: ENSMUSG00000031093 AA Change: R1102H
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140175
|
Meta Mutation Damage Score |
0.2849 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.5%
- 10x: 95.2%
- 20x: 83.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 5 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ciz1 |
GGAAGAAGAAGAAGAAG |
GGAAGAAGAAGAAG |
2: 32,266,388 (GRCm39) |
|
probably benign |
Het |
Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Vmn1r215 |
A |
G |
13: 23,260,124 (GRCm39) |
M55V |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATACTGTAGCAATGAAGACTCAGCCC -3'
(R):5'- TGGTAGCAACCCCTACCTTCAGAAAG -3'
Sequencing Primer
(F):5'- TGAAGACTCAGCCCATTTACCTG -3'
(R):5'- CTTTCAGACATTCAGATCCTAGAAAC -3'
|
Posted On |
2013-10-16 |