Incidental Mutation 'R1356:Dvl3'
| ID |
156336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dvl3
|
| Ensembl Gene |
ENSMUSG00000003233 |
| Gene Name |
dishevelled segment polarity protein 3 |
| Synonyms |
b2b2866Clo |
| MMRRC Submission |
039421-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1356 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
20335732-20352760 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
AGCGGCGGCGGCGG to AGCGGCGGCGG
at 20343055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003318]
[ENSMUST00000171572]
[ENSMUST00000171774]
|
| AlphaFold |
Q61062 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003318
|
| SMART Domains |
Protein: ENSMUSP00000003318
Gene: ENSMUSG00000003233
| 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
|
| SMART Domains |
Protein: ENSMUSP00000130925
Gene: ENSMUSG00000003233
| 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 |
probably benign
Transcript: ENSMUST00000171774
|
| SMART Domains |
Protein: ENSMUSP00000126082
Gene: ENSMUSG00000003233
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (34/34) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,342,112 (GRCm39) |
|
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,158,611 (GRCm39) |
|
probably benign |
Het |
| Cd274 |
C |
A |
19: 29,350,970 (GRCm39) |
T22K |
possibly damaging |
Het |
| Cfap45 |
G |
A |
1: 172,355,430 (GRCm39) |
R26Q |
possibly damaging |
Het |
| E2f8 |
A |
G |
7: 48,530,018 (GRCm39) |
|
probably benign |
Het |
| Ercc4 |
A |
G |
16: 12,943,146 (GRCm39) |
H255R |
probably damaging |
Het |
| Fam227b |
C |
T |
2: 125,960,928 (GRCm39) |
D234N |
probably damaging |
Het |
| Foxp1 |
A |
T |
6: 98,993,637 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,820,089 (GRCm39) |
V5274D |
probably benign |
Het |
| Gm21718 |
A |
G |
14: 51,554,104 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr85 |
G |
A |
6: 13,836,146 (GRCm39) |
P253S |
probably benign |
Het |
| Grm7 |
A |
T |
6: 111,335,985 (GRCm39) |
I799F |
probably damaging |
Het |
| Inpp1 |
A |
G |
1: 52,836,215 (GRCm39) |
F84L |
possibly damaging |
Het |
| Kprp |
T |
A |
3: 92,732,909 (GRCm39) |
E47V |
probably damaging |
Het |
| Krt9 |
CTGC |
CTGCNNNNNNNNNNNNNNNNNNNNNTGC |
11: 100,079,640 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,633,634 (GRCm39) |
|
probably benign |
Het |
| Lurap1l |
C |
G |
4: 80,829,767 (GRCm39) |
A59G |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,410,290 (GRCm39) |
T353S |
probably benign |
Het |
| Mctp2 |
A |
G |
7: 71,814,471 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,700,334 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
T |
A |
19: 12,438,689 (GRCm39) |
V49D |
probably damaging |
Het |
| Nos2 |
C |
T |
11: 78,843,629 (GRCm39) |
P859S |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Parn |
A |
T |
16: 13,468,538 (GRCm39) |
Y214* |
probably null |
Het |
| Pibf1 |
A |
G |
14: 99,374,632 (GRCm39) |
E357G |
possibly damaging |
Het |
| Prex2 |
C |
T |
1: 11,150,316 (GRCm39) |
Q163* |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,189,681 (GRCm39) |
S294T |
probably benign |
Het |
| Slc46a1 |
A |
G |
11: 78,361,550 (GRCm39) |
N399D |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,515,720 (GRCm39) |
F213S |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,914,446 (GRCm39) |
E1967G |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,218 (GRCm39) |
*866Q |
probably null |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGATGAGGATGATTCCACCAGCAG -3'
(R):5'- CCCATGTTGAGAGTGACGGTGATG -3'
Sequencing Primer
(F):5'- AGTGACCAATGAGGCAGC -3'
(R):5'- CTGTGATGCTGCTGAAAGAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation