Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02318:Dvl3'

288108

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dvl3

Ensembl Gene

ENSMUSG00000003233

Gene Name

dishevelled segment polarity protein 3

Synonyms

b2b2866Clo

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

20335732-20352760 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20342493 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q61062

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

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: R149G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000130925
Gene: ENSMUSG00000003233
AA Change: R149G

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: R149G

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126082
Gene: ENSMUSG00000003233
AA Change: R149G

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,561,838 (GRCm39)	F116S	probably damaging	Het
Abhd18	G	A	3: 40,884,662 (GRCm39)		probably null	Het
Akr1c6	G	T	13: 4,488,496 (GRCm39)	C34F	probably benign	Het
Ankef1	T	A	2: 136,386,695 (GRCm39)	I180N	possibly damaging	Het
Ap1b1	G	A	11: 4,969,294 (GRCm39)	V217I	probably benign	Het
Arhgap27	T	C	11: 103,223,989 (GRCm39)	Q608R	probably benign	Het
Arhgap32	A	G	9: 32,170,627 (GRCm39)	T1136A	probably benign	Het
Ascc3	T	A	10: 50,604,250 (GRCm39)	Y1323*	probably null	Het
Bsx	A	C	9: 40,785,517 (GRCm39)	Q15P	probably benign	Het
Cdh20	A	G	1: 104,881,764 (GRCm39)	I410V	probably null	Het
Cfhr4	T	A	1: 139,708,835 (GRCm39)	E24D	probably benign	Het
Col20a1	A	G	2: 180,648,952 (GRCm39)	D945G	probably damaging	Het
Cox20	A	G	1: 178,150,043 (GRCm39)		probably null	Het
Cplane1	A	G	15: 8,204,509 (GRCm39)	K96E	probably damaging	Het
Cpne9	A	G	6: 113,270,699 (GRCm39)	D305G	possibly damaging	Het
Cyp2d12	A	G	15: 82,439,444 (GRCm39)	T33A	probably benign	Het
Dysf	A	G	6: 84,163,446 (GRCm39)	I1624V	possibly damaging	Het
Echs1	A	T	7: 139,691,623 (GRCm39)	L167Q	probably damaging	Het
Ect2	A	T	3: 27,192,868 (GRCm39)	N358K	probably benign	Het
Eml4	A	G	17: 83,748,795 (GRCm39)	I230V	probably benign	Het
Fut10	A	G	8: 31,726,286 (GRCm39)	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,299,483 (GRCm39)	N401K	probably damaging	Het
Gm4795	C	T	10: 44,882,735 (GRCm39)		noncoding transcript	Het
Gm5592	C	A	7: 40,936,212 (GRCm39)	T238N	probably benign	Het
Gm9892	T	C	8: 52,649,260 (GRCm39)		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388 (GRCm39)	M134I	possibly damaging	Het
Grk3	A	G	5: 113,085,669 (GRCm39)	Y314H	probably damaging	Het
Hrh2	T	C	13: 54,368,669 (GRCm39)	I215T	probably damaging	Het
Ilkap	A	G	1: 91,312,960 (GRCm39)		probably null	Het
Inpp4a	T	C	1: 37,407,384 (GRCm39)	Y233H	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Lmo7	C	T	14: 102,137,502 (GRCm39)		probably benign	Het
Luc7l3	C	T	11: 94,183,819 (GRCm39)	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,205,515 (GRCm39)	I219S	probably benign	Het
Myo9b	G	A	8: 71,806,768 (GRCm39)	E1581K	probably damaging	Het
Nfs1	T	A	2: 155,966,191 (GRCm39)	Q458L	probably damaging	Het
Numb	A	T	12: 83,878,692 (GRCm39)		probably null	Het
Nxf1	G	A	19: 8,741,514 (GRCm39)		probably null	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or52z1	A	G	7: 103,437,475 (GRCm39)	V3A	probably benign	Het
Pacc1	A	G	1: 191,080,605 (GRCm39)	E275G	possibly damaging	Het
Pde2a	A	T	7: 101,152,550 (GRCm39)	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 110,666,505 (GRCm39)	L1011F	probably benign	Het
Potefam3e	T	C	8: 19,797,815 (GRCm39)		probably null	Het
Prss27	G	T	17: 24,264,571 (GRCm39)	V245L	probably benign	Het
Rbm7	T	C	9: 48,405,411 (GRCm39)	N56S	probably damaging	Het
Rftn1	T	C	17: 50,343,998 (GRCm39)	I97V	possibly damaging	Het
Ric3	T	C	7: 108,647,287 (GRCm39)	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323 (GRCm39)		probably benign	Het
Sall2	T	C	14: 52,553,022 (GRCm39)	T56A	probably damaging	Het
Sgk1	T	C	10: 21,871,440 (GRCm39)	S60P	probably damaging	Het
Smarcad1	G	A	6: 65,050,223 (GRCm39)	A281T	probably damaging	Het
Spta1	A	G	1: 174,002,029 (GRCm39)	H53R	possibly damaging	Het
Thbs4	T	C	13: 92,900,092 (GRCm39)	D468G	probably damaging	Het
Tmem108	A	T	9: 103,376,981 (GRCm39)	V156E	probably benign	Het
Tnfaip3	T	G	10: 18,880,215 (GRCm39)	R617S	probably benign	Het
Traf3	A	G	12: 111,204,031 (GRCm39)	M7V	probably benign	Het
Ubr3	T	A	2: 69,809,741 (GRCm39)	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,718,795 (GRCm39)	V716A	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
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
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

Posted On

2015-04-16