Incidental Mutation 'R4350:Dvl3'
| ID |
328483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dvl3
|
| Ensembl Gene |
ENSMUSG00000003233 |
| Gene Name |
dishevelled segment polarity protein 3 |
| Synonyms |
b2b2866Clo |
| MMRRC Submission |
041105-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4350 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
20335732-20352760 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20344394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 257
(Y257H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003318]
[ENSMUST00000171572]
[ENSMUST00000171774]
|
| AlphaFold |
Q61062 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003318
AA Change: Y257H
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003318
Gene: ENSMUSG00000003233
AA Change: Y257H
| 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 |
noncoding transcript
Transcript: ENSMUST00000169552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171572
AA Change: Y257H
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000130925
Gene: ENSMUSG00000003233
AA Change: Y257H
| 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 |
possibly damaging
Transcript: ENSMUST00000171774
AA Change: Y257H
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126082
Gene: ENSMUSG00000003233
AA Change: Y257H
| 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 |
|
| Meta Mutation Damage Score |
0.0956 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,498,020 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,555,119 (GRCm39) |
D402G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,827,640 (GRCm39) |
E954G |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cst13 |
A |
G |
2: 148,672,169 (GRCm39) |
M115V |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,648,525 (GRCm39) |
Y722N |
probably damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
| Epha7 |
T |
C |
4: 28,950,393 (GRCm39) |
V732A |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,444,036 (GRCm39) |
I457V |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,848,220 (GRCm39) |
F165L |
probably damaging |
Het |
| Gcn1 |
G |
T |
5: 115,741,389 (GRCm39) |
R1476L |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,012 (GRCm39) |
S256G |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,301,644 (GRCm39) |
|
probably null |
Het |
| Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rchy1 |
T |
C |
5: 92,105,813 (GRCm39) |
D45G |
probably damaging |
Het |
| Rftn2 |
T |
C |
1: 55,233,440 (GRCm39) |
T372A |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,006,293 (GRCm39) |
P896S |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rpl7a-ps3 |
T |
C |
15: 36,308,283 (GRCm39) |
|
noncoding transcript |
Het |
| Sox7 |
A |
G |
14: 64,185,995 (GRCm39) |
T344A |
probably benign |
Het |
| Sppl2b |
T |
C |
10: 80,698,560 (GRCm39) |
Y127H |
probably benign |
Het |
| Srsf12 |
T |
C |
4: 33,223,612 (GRCm39) |
V37A |
possibly damaging |
Het |
| Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,118,154 (GRCm39) |
C1705S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,691,117 (GRCm39) |
T474A |
probably benign |
Het |
| Tubgcp6 |
G |
A |
15: 88,988,198 (GRCm39) |
P925L |
probably benign |
Het |
|
| Other mutations in Dvl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Dvl3
|
APN |
16 |
20,349,689 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTGCCTCACAACCAGTAG -3'
(R):5'- CTGCGTCATCGTTGCTCATG -3'
Sequencing Primer
(F):5'- CCAGTAGGGAAATTAAAAGCATGTC -3'
(R):5'- TCTCATTTACCTGAGAAAGAGGGC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation