Incidental Mutation 'R5129:Dvl3'
ID |
394927 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dvl3
|
Ensembl Gene |
ENSMUSG00000003233 |
Gene Name |
dishevelled segment polarity protein 3 |
Synonyms |
b2b2866Clo |
MMRRC Submission |
042717-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5129 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
20335732-20352760 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 20336090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 49
(M49K)
|
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: M49K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000003318 Gene: ENSMUSG00000003233 AA Change: M49K
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: ENSMUST00000134992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169552
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171572
AA Change: M49K
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130925 Gene: ENSMUSG00000003233 AA Change: M49K
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: M49K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126082 Gene: ENSMUSG00000003233 AA Change: M49K
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 |
0.5543 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
98% (51/52) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
G |
7: 29,260,786 (GRCm39) |
|
noncoding transcript |
Het |
Abcf1 |
C |
T |
17: 36,271,687 (GRCm39) |
|
probably benign |
Het |
Adamts14 |
T |
A |
10: 61,085,397 (GRCm39) |
D209V |
probably benign |
Het |
Aldh3b1 |
A |
G |
19: 3,965,336 (GRCm39) |
F392L |
probably benign |
Het |
Atp1a2 |
A |
T |
1: 172,103,522 (GRCm39) |
D999E |
probably benign |
Het |
Capn7 |
T |
C |
14: 31,066,468 (GRCm39) |
V94A |
probably damaging |
Het |
Cdh13 |
A |
G |
8: 119,821,954 (GRCm39) |
D271G |
probably damaging |
Het |
Cntnap5b |
G |
A |
1: 100,306,815 (GRCm39) |
G844D |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,890,576 (GRCm39) |
E1906G |
probably damaging |
Het |
Daw1 |
T |
C |
1: 83,183,624 (GRCm39) |
Y225H |
probably damaging |
Het |
Eef1b2 |
T |
G |
1: 63,218,739 (GRCm39) |
S175A |
probably damaging |
Het |
Epb41l1 |
A |
T |
2: 156,351,201 (GRCm39) |
Y425F |
possibly damaging |
Het |
Fam43b |
A |
T |
4: 138,122,783 (GRCm39) |
L179* |
probably null |
Het |
Fbxw28 |
A |
G |
9: 109,155,671 (GRCm39) |
L314P |
probably damaging |
Het |
Fstl4 |
C |
A |
11: 53,077,266 (GRCm39) |
D674E |
probably damaging |
Het |
G3bp1 |
T |
C |
11: 55,379,942 (GRCm39) |
V92A |
possibly damaging |
Het |
Gm3604 |
A |
T |
13: 62,517,588 (GRCm39) |
Y257N |
probably benign |
Het |
Gm5900 |
A |
G |
7: 104,599,223 (GRCm39) |
|
noncoding transcript |
Het |
Hectd4 |
G |
A |
5: 121,481,573 (GRCm39) |
V3041M |
possibly damaging |
Het |
Hivep2 |
A |
G |
10: 14,006,608 (GRCm39) |
K1069E |
probably damaging |
Het |
Hlf |
T |
C |
11: 90,281,078 (GRCm39) |
D38G |
probably benign |
Het |
Hsd3b7 |
C |
A |
7: 127,400,306 (GRCm39) |
C18* |
probably null |
Het |
Kdm5a |
T |
C |
6: 120,381,983 (GRCm39) |
C676R |
probably damaging |
Het |
Klhdc7b |
A |
G |
15: 89,272,751 (GRCm39) |
Y1211C |
probably damaging |
Het |
Krt78 |
C |
A |
15: 101,856,015 (GRCm39) |
V599L |
possibly damaging |
Het |
Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
Nbas |
T |
C |
12: 13,440,961 (GRCm39) |
L1097P |
probably damaging |
Het |
Nf2 |
A |
C |
11: 4,766,145 (GRCm39) |
D87E |
probably benign |
Het |
Or10d4c |
T |
A |
9: 39,558,790 (GRCm39) |
I256N |
probably benign |
Het |
Or14j2 |
T |
C |
17: 37,886,071 (GRCm39) |
Y81C |
probably damaging |
Het |
Ppil3 |
A |
G |
1: 58,479,992 (GRCm39) |
|
probably benign |
Het |
Prrc2a |
T |
C |
17: 35,379,154 (GRCm39) |
E276G |
unknown |
Het |
Semp2l1 |
C |
A |
1: 32,584,560 (GRCm39) |
R450M |
probably damaging |
Het |
Semp2l1 |
T |
A |
1: 32,584,561 (GRCm39) |
R450W |
probably damaging |
Het |
Spata16 |
A |
G |
3: 26,721,713 (GRCm39) |
E78G |
probably damaging |
Het |
Tlr3 |
A |
T |
8: 45,856,018 (GRCm39) |
I54K |
probably damaging |
Het |
Tmem72 |
A |
G |
6: 116,678,974 (GRCm39) |
L34P |
probably damaging |
Het |
Triobp |
A |
G |
15: 78,845,296 (GRCm39) |
R213G |
probably benign |
Het |
Tyrp1 |
T |
A |
4: 80,764,844 (GRCm39) |
V7D |
probably damaging |
Het |
Uhrf2 |
A |
G |
19: 30,052,621 (GRCm39) |
I372V |
probably benign |
Het |
Uty |
T |
C |
Y: 1,158,592 (GRCm39) |
T484A |
probably benign |
Het |
Vcan |
T |
C |
13: 89,838,359 (GRCm39) |
D2395G |
probably damaging |
Het |
Vmn1r225 |
T |
A |
17: 20,723,378 (GRCm39) |
I273N |
probably damaging |
Het |
Zfp451 |
C |
T |
1: 33,842,014 (GRCm39) |
|
probably benign |
Het |
Zfp457 |
T |
C |
13: 67,441,420 (GRCm39) |
E385G |
probably benign |
Het |
Zfp74 |
C |
T |
7: 29,631,880 (GRCm39) |
M121I |
probably benign |
Het |
Zfp866 |
A |
T |
8: 70,220,359 (GRCm39) |
|
probably null |
Het |
Zfp874a |
A |
T |
13: 67,591,100 (GRCm39) |
C195S |
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 |
|
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 |
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'- TCTGCAGTCGGTGACACTTC -3'
(R):5'- TCAAAGTCAAGTGTGTCCCAAG -3'
Sequencing Primer
(F):5'- AAGAGTCGCGATCGCCAG -3'
(R):5'- GTCAAGTGTGTCCCAAGTCACC -3'
|
Posted On |
2016-06-21 |