Incidental Mutation 'IGL00470:Dvl3'
ID |
5798 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dvl3
|
Ensembl Gene |
ENSMUSG00000003233 |
Gene Name |
dishevelled segment polarity protein 3 |
Synonyms |
b2b2866Clo |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00470
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
20335732-20352760 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 20349689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 554
(P554L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130925
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003318]
[ENSMUST00000007216]
[ENSMUST00000090023]
[ENSMUST00000171572]
[ENSMUST00000171774]
[ENSMUST00000232001]
|
AlphaFold |
Q61062 |
Predicted Effect |
unknown
Transcript: ENSMUST00000003318
AA Change: P554L
|
SMART Domains |
Protein: ENSMUSP00000003318 Gene: ENSMUSG00000003233 AA Change: P554L
Domain | Start | End | E-Value | Type |
DAX
|
1 |
82 |
3.17e-54 |
SMART |
Pfam:Dishevelled
|
142 |
213 |
1.6e-36 |
PFAM |
PDZ
|
258 |
337 |
2.92e-16 |
SMART |
low complexity region
|
378 |
396 |
N/A |
INTRINSIC |
DEP
|
422 |
496 |
3.43e-27 |
SMART |
Pfam:Dsh_C
|
500 |
706 |
5.8e-88 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000007216
|
SMART Domains |
Protein: ENSMUSP00000007216 Gene: ENSMUSG00000022841
Domain | Start | End | E-Value | Type |
Pfam:Clat_adaptor_s
|
1 |
137 |
6.7e-8 |
PFAM |
Pfam:Adap_comp_sub
|
159 |
435 |
3.2e-84 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090023
|
SMART Domains |
Protein: ENSMUSP00000087477 Gene: ENSMUSG00000022841
Domain | Start | End | E-Value | Type |
Pfam:Clat_adaptor_s
|
1 |
137 |
4.2e-8 |
PFAM |
Pfam:Adap_comp_sub
|
157 |
433 |
8.7e-87 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133443
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171572
AA Change: P554L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000130925 Gene: ENSMUSG00000003233 AA Change: P554L
Domain | Start | End | E-Value | Type |
DAX
|
1 |
82 |
3.17e-54 |
SMART |
Pfam:Dishevelled
|
89 |
245 |
1.3e-63 |
PFAM |
PDZ
|
258 |
337 |
2.92e-16 |
SMART |
low complexity region
|
378 |
396 |
N/A |
INTRINSIC |
DEP
|
422 |
496 |
3.43e-27 |
SMART |
Pfam:Dsh_C
|
500 |
706 |
1.2e-82 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000171774
AA Change: P537L
|
SMART Domains |
Protein: ENSMUSP00000126082 Gene: ENSMUSG00000003233 AA Change: P537L
Domain | Start | End | E-Value | Type |
DAX
|
1 |
82 |
3.17e-54 |
SMART |
Pfam:Dishevelled
|
142 |
213 |
3.9e-37 |
PFAM |
PDZ
|
258 |
337 |
2.92e-16 |
SMART |
low complexity region
|
361 |
379 |
N/A |
INTRINSIC |
DEP
|
405 |
479 |
3.43e-27 |
SMART |
Pfam:Dsh_C
|
483 |
689 |
1.8e-88 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232001
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality associated with respiratory distress, persistent truncus arteriosis, and double outlet right ventricle. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4732463B04Rik |
G |
T |
12: 84,090,578 (GRCm39) |
|
probably benign |
Het |
Abcd1 |
T |
C |
X: 72,761,154 (GRCm39) |
L173P |
probably damaging |
Het |
Adam18 |
T |
A |
8: 25,118,149 (GRCm39) |
D41V |
probably damaging |
Het |
Armh4 |
A |
T |
14: 50,010,460 (GRCm39) |
S416T |
probably damaging |
Het |
Aspa |
T |
G |
11: 73,204,447 (GRCm39) |
|
probably benign |
Het |
Cacna2d1 |
T |
A |
5: 16,451,654 (GRCm39) |
|
probably benign |
Het |
Cracd |
G |
A |
5: 77,013,903 (GRCm39) |
|
probably benign |
Het |
Cubn |
T |
A |
2: 13,283,229 (GRCm39) |
I3570L |
probably benign |
Het |
Cyp2j13 |
G |
A |
4: 95,950,275 (GRCm39) |
P242L |
probably damaging |
Het |
Cysrt1 |
T |
C |
2: 25,129,513 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
A |
T |
7: 105,407,414 (GRCm39) |
L2100H |
probably damaging |
Het |
Ddb1 |
G |
A |
19: 10,589,028 (GRCm39) |
A229T |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,228,043 (GRCm39) |
I1554F |
probably damaging |
Het |
Fcgbp |
C |
A |
7: 27,774,511 (GRCm39) |
C28* |
probably null |
Het |
Gm773 |
T |
C |
X: 55,247,373 (GRCm39) |
D53G |
probably benign |
Het |
Hhat |
A |
G |
1: 192,399,325 (GRCm39) |
Y272H |
probably damaging |
Het |
Inpp5k |
T |
C |
11: 75,536,351 (GRCm39) |
S310P |
probably benign |
Het |
Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
Kcnh5 |
T |
C |
12: 74,944,570 (GRCm39) |
D893G |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,119,738 (GRCm39) |
T709A |
probably benign |
Het |
Mcm8 |
G |
A |
2: 132,669,457 (GRCm39) |
V281I |
probably benign |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Nup133 |
T |
G |
8: 124,665,822 (GRCm39) |
D201A |
probably damaging |
Het |
Oxct2a |
A |
G |
4: 123,217,183 (GRCm39) |
L66P |
possibly damaging |
Het |
Pcbp2 |
C |
T |
15: 102,399,148 (GRCm39) |
A224V |
probably damaging |
Het |
Phf8-ps |
T |
A |
17: 33,284,837 (GRCm39) |
H655L |
probably benign |
Het |
Pla2g4e |
G |
A |
2: 120,015,719 (GRCm39) |
S275F |
probably benign |
Het |
Pxk |
T |
C |
14: 8,130,754 (GRCm38) |
F118L |
probably damaging |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Sphkap |
A |
G |
1: 83,255,631 (GRCm39) |
M706T |
possibly damaging |
Het |
Tars3 |
T |
C |
7: 65,338,656 (GRCm39) |
M689T |
probably benign |
Het |
Trrap |
T |
C |
5: 144,754,848 (GRCm39) |
V2008A |
probably damaging |
Het |
Txndc2 |
A |
T |
17: 65,945,569 (GRCm39) |
S203T |
probably benign |
Het |
Txnrd1 |
T |
G |
10: 82,711,496 (GRCm39) |
D42E |
probably damaging |
Het |
Zswim8 |
G |
A |
14: 20,773,249 (GRCm39) |
D1746N |
probably damaging |
Het |
|
Other mutations in Dvl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02318:Dvl3
|
APN |
16 |
20,342,493 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0490:Dvl3
|
UTSW |
16 |
20,346,173 (GRCm39) |
splice site |
probably benign |
|
R0491:Dvl3
|
UTSW |
16 |
20,346,173 (GRCm39) |
splice site |
probably benign |
|
R1356:Dvl3
|
UTSW |
16 |
20,343,055 (GRCm39) |
small deletion |
probably benign |
|
R1502:Dvl3
|
UTSW |
16 |
20,342,209 (GRCm39) |
missense |
probably damaging |
0.99 |
R2062:Dvl3
|
UTSW |
16 |
20,345,101 (GRCm39) |
missense |
probably benign |
0.33 |
R2197:Dvl3
|
UTSW |
16 |
20,342,506 (GRCm39) |
missense |
probably damaging |
0.99 |
R4232:Dvl3
|
UTSW |
16 |
20,342,983 (GRCm39) |
intron |
probably benign |
|
R4346:Dvl3
|
UTSW |
16 |
20,350,049 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4347:Dvl3
|
UTSW |
16 |
20,350,049 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4350:Dvl3
|
UTSW |
16 |
20,344,394 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4351:Dvl3
|
UTSW |
16 |
20,344,394 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4352:Dvl3
|
UTSW |
16 |
20,344,394 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5129:Dvl3
|
UTSW |
16 |
20,336,090 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5134:Dvl3
|
UTSW |
16 |
20,343,357 (GRCm39) |
intron |
probably benign |
|
R5430:Dvl3
|
UTSW |
16 |
20,342,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R5586:Dvl3
|
UTSW |
16 |
20,336,039 (GRCm39) |
missense |
probably damaging |
0.98 |
R5643:Dvl3
|
UTSW |
16 |
20,345,026 (GRCm39) |
missense |
probably damaging |
0.99 |
R5644:Dvl3
|
UTSW |
16 |
20,345,026 (GRCm39) |
missense |
probably damaging |
0.99 |
R5961:Dvl3
|
UTSW |
16 |
20,349,729 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6143:Dvl3
|
UTSW |
16 |
20,345,789 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6502:Dvl3
|
UTSW |
16 |
20,346,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R7117:Dvl3
|
UTSW |
16 |
20,346,072 (GRCm39) |
nonsense |
probably null |
|
R7740:Dvl3
|
UTSW |
16 |
20,346,000 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8344:Dvl3
|
UTSW |
16 |
20,342,513 (GRCm39) |
critical splice donor site |
probably null |
|
R8828:Dvl3
|
UTSW |
16 |
20,344,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R9047:Dvl3
|
UTSW |
16 |
20,342,826 (GRCm39) |
critical splice donor site |
probably null |
|
R9518:Dvl3
|
UTSW |
16 |
20,335,961 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9610:Dvl3
|
UTSW |
16 |
20,346,008 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Dvl3
|
UTSW |
16 |
20,342,245 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Dvl3
|
UTSW |
16 |
20,349,631 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Dvl3
|
UTSW |
16 |
20,335,838 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2012-04-20 |