Mutagenetix > Incidental Mutation

Incidental Mutation 'R3112:Dvl1'

263726

Institutional Source

Beutler Lab

Gene Symbol

Dvl1

Ensembl Gene

ENSMUSG00000029071

Gene Name

dishevelled segment polarity protein 1

Synonyms

MMRRC Submission

040585-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155847402-155859303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155853666 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 90 (D90E)

Ref Sequence

ENSEMBL: ENSMUSP00000133137 (fasta)

Gene Model

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

AlphaFold

P51141

Predicted Effect

probably damaging
Transcript: ENSMUST00000030948
AA Change: D90E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030948
Gene: ENSMUSG00000029071
AA Change: D90E

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

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: D90E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133137
Gene: ENSMUSG00000029071
AA Change: D90E

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

Meta Mutation Damage Score

0.3690

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Fam135b	T	C	15: 71,464,030	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Lipe	T	C	7: 25,398,423	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Pfkfb4	C	T	9: 109,025,042		probably benign	Het
Phactr3	T	A	2: 178,279,017	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Scrib	A	T	15: 76,069,374	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162	I283L	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
IGL03075:Dvl1	APN	4	155854583	missense	probably damaging	0.99
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
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
R8385:Dvl1	UTSW	4	155855580	missense	possibly damaging	0.68
R8847:Dvl1	UTSW	4	155858154	missense	possibly damaging	0.90
Z1176:Dvl1	UTSW	4	155855611	missense	probably benign	0.04
Z1177:Dvl1	UTSW	4	155847637	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTCGATGACAATGCCAAGTTGC -3'
(R):5'- AGCTTCACTCTTCCCAGGTG -3'

Sequencing Primer
(F):5'- AAGTTGCCCTGCTTCAATGG -3'
(R):5'- GGGTCTTGGGTAGCAAGTATCTAGC -3'

Posted On

2015-02-05