Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03075:Dvl1'

417659

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dvl1

Ensembl Gene

ENSMUSG00000029071

Gene Name

dishevelled segment polarity protein 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03075

Quality Score

Status

Chromosome

Chromosomal Location

155847402-155859303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155854583 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 208 (E208G)

Ref Sequence

ENSEMBL: ENSMUSP00000133137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030948] [ENSMUST00000030949] [ENSMUST00000168552]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030948
AA Change: E208G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030948
Gene: ENSMUSG00000029071
AA Change: E208G

Domain	Start	End	E-Value	Type
DAX	1	85	2.17e-52	SMART
Pfam:Dishevelled	144	215	1.1e-31	PFAM
low complexity region	217	233	N/A	INTRINSIC
low complexity region	235	246	N/A	INTRINSIC
PDZ	260	339	3.13e-16	SMART
low complexity region	380	397	N/A	INTRINSIC
DEP	425	499	1.47e-26	SMART
Pfam:Dsh_C	503	685	4.2e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030949

SMART Domains

Protein: ENSMUSP00000030949
Gene: ENSMUSG00000029072

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	72	469	2e-79	PFAM
Pfam:NCD3G	500	552	1.9e-16	PFAM
Pfam:7tm_3	576	821	9.6e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156997

Predicted Effect

probably damaging
Transcript: ENSMUST00000168552
AA Change: E208G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133137
Gene: ENSMUSG00000029071
AA Change: E208G

Domain	Start	End	E-Value	Type
DAX	1	85	2.17e-52	SMART
Pfam:Dishevelled	90	247	1.7e-60	PFAM
PDZ	260	339	3.13e-16	SMART
low complexity region	380	397	N/A	INTRINSIC
DEP	425	499	1.47e-26	SMART
Pfam:Dsh_C	503	685	7.6e-59	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the Dishevelled family of proteins. These proteins have an N-terminal Dishevelled/Axin domain, a Dishevelled, EGL-10, Plextrin domain, a central PDZ domain, and a C-terminal domain of approximately 200 amino acids. They regulate both canonical and non-canonical Wnt signaling as well as planar cell polarity pathways. Mice deficient for this gene are viable and fertile but display reduced social interaction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous targeted mutants are viable and fertile, but show a number of behavioral changes including deficient nest-building, less huddling contact during sleep, reduced subordinate responses, and other social interaction deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	G	A	13: 4,272,255	R263C	probably damaging	Het
Axdnd1	A	T	1: 156,395,442	S217T	probably damaging	Het
Crtc3	G	A	7: 80,604,403		probably benign	Het
Ctnna2	A	T	6: 76,954,730	M642K	probably benign	Het
Ddx56	A	T	11: 6,261,632	H491Q	probably benign	Het
Fam135a	A	G	1: 24,030,906		probably benign	Het
Gabpa	T	A	16: 84,852,607	V234D	possibly damaging	Het
Gjb4	A	G	4: 127,351,593	V185A	possibly damaging	Het
Hlcs	C	T	16: 94,138,847	A149T	probably damaging	Het
Il1f10	T	A	2: 24,293,176	I44N	possibly damaging	Het
Itih4	A	G	14: 30,892,283	I397V	probably benign	Het
Kat6b	C	T	14: 21,661,570	R820*	probably null	Het
Mmp17	T	C	5: 129,595,074	L137P	probably damaging	Het
Myh2	A	G	11: 67,180,836	N493S	probably benign	Het
Myo9b	A	T	8: 71,354,527	Q1589L	probably damaging	Het
Olfr202	T	A	16: 59,283,928	T190S	possibly damaging	Het
Olfr389	A	T	11: 73,776,472	L285Q	probably damaging	Het
Osbpl8	A	G	10: 111,291,556	I834V	probably benign	Het
P2ry12	A	T	3: 59,218,158	V32D	probably damaging	Het
Polg	A	G	7: 79,451,912	V1052A	probably damaging	Het
Prss38	A	C	11: 59,373,055	V277G	probably damaging	Het
Rell2	G	T	18: 37,957,681	R137L	probably damaging	Het
Scara3	C	T	14: 65,931,154	R338H	probably damaging	Het
Skint4	T	C	4: 112,087,042	L17P	probably damaging	Het
Slco1a6	C	T	6: 142,103,149		probably benign	Het
Smyd2	T	A	1: 189,888,832	I230F	probably damaging	Het
Sv2b	G	T	7: 75,136,320	H451N	probably benign	Het
Tbpl2	A	T	2: 24,071,985		probably benign	Het
Tmprss9	A	G	10: 80,884,029	D144G	possibly damaging	Het
Trove2	A	C	1: 143,770,771	S79A	probably benign	Het
Vwa8	T	C	14: 78,933,756	Y247H	probably damaging	Het
Zc3h15	T	C	2: 83,662,191	Y337H	possibly damaging	Het

Other mutations in Dvl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Dvl1	APN	4	155853698	missense	possibly damaging	0.85
IGL01930:Dvl1	APN	4	155856188	missense	possibly damaging	0.72
IGL02499:Dvl1	APN	4	155854780	missense	probably benign	0.10
IGL03089:Dvl1	APN	4	155855152	missense	probably damaging	1.00
R0525:Dvl1	UTSW	4	155855595	missense	probably damaging	0.99
R0624:Dvl1	UTSW	4	155854775	missense	probably damaging	1.00
R0633:Dvl1	UTSW	4	155858295	missense	probably damaging	1.00
R1459:Dvl1	UTSW	4	155854019	missense	probably damaging	0.99
R1955:Dvl1	UTSW	4	155858029	missense	possibly damaging	0.69
R1991:Dvl1	UTSW	4	155847816	missense	possibly damaging	0.84
R2144:Dvl1	UTSW	4	155847816	missense	possibly damaging	0.84
R2145:Dvl1	UTSW	4	155847816	missense	possibly damaging	0.84
R2156:Dvl1	UTSW	4	155847816	missense	possibly damaging	0.84
R2191:Dvl1	UTSW	4	155847816	missense	possibly damaging	0.84
R2192:Dvl1	UTSW	4	155847816	missense	possibly damaging	0.84
R2290:Dvl1	UTSW	4	155847816	missense	possibly damaging	0.84
R2292:Dvl1	UTSW	4	155847816	missense	possibly damaging	0.84
R2304:Dvl1	UTSW	4	155855584	missense	probably damaging	0.98
R2519:Dvl1	UTSW	4	155855543	nonsense	probably null
R3082:Dvl1	UTSW	4	155847859	missense	possibly damaging	0.92
R3110:Dvl1	UTSW	4	155853666	missense	probably damaging	0.98
R3112:Dvl1	UTSW	4	155853666	missense	probably damaging	0.98
R4775:Dvl1	UTSW	4	155858127	missense	probably benign
R5384:Dvl1	UTSW	4	155853686	missense	probably damaging	0.99
R6148:Dvl1	UTSW	4	155854952	missense	probably damaging	1.00
R6563:Dvl1	UTSW	4	155856253	missense	probably damaging	1.00
R7293:Dvl1	UTSW	4	155856168	missense	possibly damaging	0.93
R7746:Dvl1	UTSW	4	155856239	missense	possibly damaging	0.93

Posted On

2016-08-02