Incidental Mutation 'IGL02318:Dvl3'
ID288108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dvl3
Ensembl Gene ENSMUSG00000003233
Gene Namedishevelled segment polarity protein 3
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02318
Quality Score
Status
Chromosome16
Chromosomal Location20516982-20534010 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20523743 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 149 (R149G)
Ref Sequence ENSEMBL: ENSMUSP00000126082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003318] [ENSMUST00000171572] [ENSMUST00000171774]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003318
AA Change: R149G

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003318
Gene: ENSMUSG00000003233
AA Change: R149G

DomainStartEndE-ValueType
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: R149G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000130925
Gene: ENSMUSG00000003233
AA Change: R149G

DomainStartEndE-ValueType
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: R149G

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126082
Gene: ENSMUSG00000003233
AA Change: R149G

DomainStartEndE-ValueType
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
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,563,576 F116S probably damaging Het
2410089E03Rik A G 15: 8,175,025 K96E probably damaging Het
4930467E23Rik T C 8: 19,747,799 probably null Het
Abhd18 G A 3: 40,930,227 probably null Het
Akr1c6 G T 13: 4,438,497 C34F probably benign Het
Ankef1 T A 2: 136,544,775 I180N possibly damaging Het
Ap1b1 G A 11: 5,019,294 V217I probably benign Het
Arhgap27 T C 11: 103,333,163 Q608R probably benign Het
Arhgap32 A G 9: 32,259,331 T1136A probably benign Het
Ascc3 T A 10: 50,728,154 Y1323* probably null Het
Bsx A C 9: 40,874,221 Q15P probably benign Het
Cdh20 A G 1: 104,954,039 I410V probably null Het
Col20a1 A G 2: 181,007,159 D945G probably damaging Het
Cox20 A G 1: 178,322,478 probably null Het
Cpne9 A G 6: 113,293,738 D305G possibly damaging Het
Cyp2d12 A G 15: 82,555,243 T33A probably benign Het
Dysf A G 6: 84,186,464 I1624V possibly damaging Het
Echs1 A T 7: 140,111,710 L167Q probably damaging Het
Ect2 A T 3: 27,138,719 N358K probably benign Het
Eml4 A G 17: 83,441,366 I230V probably benign Het
Fut10 A G 8: 31,236,258 Y347C probably damaging Het
Gfm2 C A 13: 97,162,975 N401K probably damaging Het
Gm4788 T A 1: 139,781,097 E24D probably benign Het
Gm4795 C T 10: 45,006,639 noncoding transcript Het
Gm5592 C A 7: 41,286,788 T238N probably benign Het
Gm9892 T C 8: 52,196,225 noncoding transcript Het
Greb1l G T 18: 10,469,388 M134I possibly damaging Het
Grk3 A G 5: 112,937,803 Y314H probably damaging Het
Hrh2 T C 13: 54,214,650 I215T probably damaging Het
Ilkap A G 1: 91,385,238 probably null Het
Inpp4a T C 1: 37,368,303 Y233H probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Lmo7 C T 14: 101,900,066 probably benign Het
Luc7l3 C T 11: 94,292,993 R440Q probably benign Het
Mis18bp1 A C 12: 65,158,741 I219S probably benign Het
Myo9b G A 8: 71,354,124 E1581K probably damaging Het
Nfs1 T A 2: 156,124,271 Q458L probably damaging Het
Numb A T 12: 83,831,918 probably null Het
Nxf1 G A 19: 8,764,150 probably null Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr67 A G 7: 103,788,268 V3A probably benign Het
Pde2a A T 7: 101,503,343 Y371F possibly damaging Het
Phlpp2 G T 8: 109,939,873 L1011F probably benign Het
Prss27 G T 17: 24,045,597 V245L probably benign Het
Rbm7 T C 9: 48,494,111 N56S probably damaging Het
Rftn1 T C 17: 50,036,970 I97V possibly damaging Het
Ric3 T C 7: 109,048,080 T178A probably damaging Het
Rock1 A G 18: 10,104,323 probably benign Het
Sall2 T C 14: 52,315,565 T56A probably damaging Het
Sgk1 T C 10: 21,995,541 S60P probably damaging Het
Smarcad1 G A 6: 65,073,239 A281T probably damaging Het
Spta1 A G 1: 174,174,463 H53R possibly damaging Het
Thbs4 T C 13: 92,763,584 D468G probably damaging Het
Tmem108 A T 9: 103,499,782 V156E probably benign Het
Tmem206 A G 1: 191,348,408 E275G possibly damaging Het
Tnfaip3 T G 10: 19,004,467 R617S probably benign Het
Traf3 A G 12: 111,237,597 M7V probably benign Het
Ubr3 T A 2: 69,979,397 I1237N probably damaging Het
Vmn2r23 T C 6: 123,741,836 V716A probably benign Het
Other mutations in Dvl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Dvl3 APN 16 20530939 missense probably damaging 0.97
R0490:Dvl3 UTSW 16 20527423 splice site probably benign
R0491:Dvl3 UTSW 16 20527423 splice site probably benign
R1356:Dvl3 UTSW 16 20524305 small deletion probably benign
R1502:Dvl3 UTSW 16 20523459 missense probably damaging 0.99
R2062:Dvl3 UTSW 16 20526351 missense probably benign 0.33
R2197:Dvl3 UTSW 16 20523756 missense probably damaging 0.99
R4232:Dvl3 UTSW 16 20524233 intron probably benign
R4346:Dvl3 UTSW 16 20531299 missense possibly damaging 0.95
R4347:Dvl3 UTSW 16 20531299 missense possibly damaging 0.95
R4350:Dvl3 UTSW 16 20525644 missense possibly damaging 0.93
R4351:Dvl3 UTSW 16 20525644 missense possibly damaging 0.93
R4352:Dvl3 UTSW 16 20525644 missense possibly damaging 0.93
R5129:Dvl3 UTSW 16 20517340 missense possibly damaging 0.95
R5134:Dvl3 UTSW 16 20524607 intron probably benign
R5430:Dvl3 UTSW 16 20523731 missense probably damaging 1.00
R5586:Dvl3 UTSW 16 20517289 missense probably damaging 0.98
R5643:Dvl3 UTSW 16 20526276 missense probably damaging 0.99
R5644:Dvl3 UTSW 16 20526276 missense probably damaging 0.99
R5961:Dvl3 UTSW 16 20530979 missense possibly damaging 0.86
R6143:Dvl3 UTSW 16 20527039 missense possibly damaging 0.92
R6502:Dvl3 UTSW 16 20527383 missense probably damaging 1.00
X0062:Dvl3 UTSW 16 20523495 missense probably damaging 1.00
Posted On2015-04-16