Incidental Mutation 'R4346:Dvl3'
| ID |
324342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dvl3
|
| Ensembl Gene |
ENSMUSG00000003233 |
| Gene Name |
dishevelled segment polarity protein 3 |
| Synonyms |
b2b2866Clo |
| MMRRC Submission |
041667-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
20335732-20352760 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20350049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 645
(R645H)
|
| 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: R645H
|
| SMART Domains |
Protein: ENSMUSP00000003318
Gene: ENSMUSG00000003233
AA Change: R645H
| 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 |
possibly damaging
Transcript: ENSMUST00000171572
AA Change: R645H
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130925
Gene: ENSMUSG00000003233
AA Change: R645H
| 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: R628H
|
| SMART Domains |
Protein: ENSMUSP00000126082
Gene: ENSMUSG00000003233
AA Change: R628H
| 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
|
| Meta Mutation Damage Score |
0.0625 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (31/31) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
G |
A |
2: 154,887,651 (GRCm39) |
R37Q |
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,583,264 (GRCm39) |
T128A |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,944,072 (GRCm39) |
Q1763L |
possibly damaging |
Het |
| Egflam |
A |
T |
15: 7,263,759 (GRCm39) |
C730* |
probably null |
Het |
| Fbxo40 |
T |
C |
16: 36,790,525 (GRCm39) |
E195G |
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,612,844 (GRCm39) |
S1025P |
possibly damaging |
Het |
| Gba2 |
A |
G |
4: 43,571,337 (GRCm39) |
V204A |
probably benign |
Het |
| Igkv8-28 |
C |
T |
6: 70,121,096 (GRCm39) |
|
probably benign |
Het |
| Lef1 |
T |
C |
3: 130,988,357 (GRCm39) |
M308T |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,131,806 (GRCm39) |
N874S |
probably benign |
Het |
| Med12l |
A |
T |
3: 58,938,976 (GRCm39) |
T37S |
probably damaging |
Het |
| Ogfod2 |
A |
G |
5: 124,251,357 (GRCm39) |
Y57C |
probably damaging |
Het |
| Or5b94 |
A |
G |
19: 12,651,592 (GRCm39) |
T8A |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,954,941 (GRCm39) |
V607A |
probably benign |
Het |
| Pnpt1 |
A |
G |
11: 29,095,478 (GRCm39) |
D409G |
probably damaging |
Het |
| Pycr3 |
G |
A |
15: 75,790,580 (GRCm39) |
T93I |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,044,705 (GRCm39) |
Y201H |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,827,878 (GRCm39) |
V29M |
probably damaging |
Het |
| Slc25a54 |
A |
G |
3: 109,010,055 (GRCm39) |
T185A |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,304,692 (GRCm39) |
I221V |
probably benign |
Het |
| Tnfrsf19 |
C |
A |
14: 61,209,429 (GRCm39) |
|
probably null |
Het |
| Ttll11 |
T |
C |
2: 35,674,130 (GRCm39) |
N599S |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,638,926 (GRCm39) |
I13919L |
probably damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,577,537 (GRCm39) |
F334L |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,799,099 (GRCm39) |
|
probably benign |
Het |
| Zfp646 |
A |
G |
7: 127,478,681 (GRCm39) |
Y286C |
probably damaging |
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 |
|
|
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'- TGTTTCCTACAGGCAGTCGG -3'
(R):5'- TTCCCATTGCCATGCGGAAG -3'
Sequencing Primer
(F):5'- AGTGGCTCCAACCGAAGTG -3'
(R):5'- CATTGCCATGCGGAAGGACTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation