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

155931859-155943760 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155938123 bp (GRCm39)

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
Abca6	T	A	11: 110,069,655 (GRCm39)	K1554*	probably null	Het
Acads	T	C	5: 115,255,757 (GRCm39)	H26R	probably benign	Het
Acer1	G	A	17: 57,265,406 (GRCm39)	T141I	probably damaging	Het
Adam15	C	G	3: 89,254,764 (GRCm39)	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,368,331 (GRCm39)	V97A	possibly damaging	Het
Anpep	T	C	7: 79,491,720 (GRCm39)	T94A	probably benign	Het
Atp1a3	T	C	7: 24,694,119 (GRCm39)	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,645,721 (GRCm39)	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,002,831 (GRCm39)	W62*	probably null	Het
Ccdc141	C	T	2: 76,869,830 (GRCm39)	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470 (GRCm39)	I278K	possibly damaging	Het
Cdc7	T	G	5: 107,122,564 (GRCm39)		probably null	Het
Cpb1	C	T	3: 20,319,521 (GRCm39)	V188M	probably damaging	Het
Dock5	A	G	14: 68,095,371 (GRCm39)	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,035,953 (GRCm39)	V95A	probably damaging	Het
Fam135b	T	C	15: 71,335,879 (GRCm39)	I438M	probably benign	Het
Fpr1	A	T	17: 18,096,897 (GRCm39)	M364K	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gpx7	C	A	4: 108,260,470 (GRCm39)	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,591 (GRCm39)		probably null	Het
Grn	A	G	11: 102,324,069 (GRCm39)	T53A	probably benign	Het
H1f4	T	C	13: 23,805,829 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,440,038 (GRCm39)	Y32C	probably damaging	Het
Hmgxb3	T	C	18: 61,280,454 (GRCm39)	N683S	probably damaging	Het
Iigp1	T	C	18: 60,523,983 (GRCm39)	I367T	probably benign	Het
Itfg2	T	C	6: 128,388,632 (GRCm39)	E285G	probably damaging	Het
Itgav	T	A	2: 83,622,915 (GRCm39)	C662*	probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Lipe	T	C	7: 25,097,848 (GRCm39)	T32A	probably benign	Het
Lrrk2	A	G	15: 91,698,898 (GRCm39)	Y2475C	probably benign	Het
Mcc	T	C	18: 44,582,330 (GRCm39)	D607G	probably damaging	Het
Mip	T	A	10: 128,061,875 (GRCm39)	L42*	probably null	Het
Mlc1	A	T	15: 88,850,199 (GRCm39)	D192E	probably benign	Het
Muc2	T	C	7: 141,299,225 (GRCm39)		probably benign	Het
Mybl1	T	C	1: 9,752,095 (GRCm39)	D260G	probably damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,257,297 (GRCm39)	V305A	probably benign	Het
Nodal	G	A	10: 61,260,276 (GRCm39)	R309Q	possibly damaging	Het
Olr1	T	C	6: 129,476,881 (GRCm39)	N128S	possibly damaging	Het
Or10ak14	A	T	4: 118,611,421 (GRCm39)	F105I	probably damaging	Het
Or12j5	A	G	7: 140,083,832 (GRCm39)	I180T	probably damaging	Het
Or14a256	T	C	7: 86,264,884 (GRCm39)	Y323C	probably benign	Het
Orc1	T	A	4: 108,461,757 (GRCm39)	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,496,922 (GRCm39)	I300F	probably damaging	Het
Pfkfb4	C	T	9: 108,854,110 (GRCm39)		probably benign	Het
Phactr3	T	A	2: 177,920,810 (GRCm39)	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083 (GRCm39)	T612A	probably benign	Het
Plch1	T	A	3: 63,616,952 (GRCm39)	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,054,973 (GRCm39)		probably benign	Het
Potefam1	T	G	2: 111,058,399 (GRCm39)	L131F	probably damaging	Het
Ppp1r12b	T	A	1: 134,800,570 (GRCm39)	T547S	probably damaging	Het
Prkcb	T	A	7: 122,116,079 (GRCm39)	M186K	probably damaging	Het
Prpf3	A	T	3: 95,757,112 (GRCm39)		probably benign	Het
Psg23	T	C	7: 18,344,369 (GRCm39)	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,358,114 (GRCm39)	L15P	probably damaging	Het
Scrib	A	T	15: 75,941,223 (GRCm39)	I5N	probably damaging	Het
Speg	C	T	1: 75,399,326 (GRCm39)	Q2005*	probably null	Het
Sppl3	A	T	5: 115,212,923 (GRCm39)	S51C	possibly damaging	Het
Sspo	A	G	6: 48,434,534 (GRCm39)	T1009A	probably damaging	Het
Syce1l	A	G	8: 114,381,579 (GRCm39)	Q164R	probably benign	Het
Sympk	T	C	7: 18,768,409 (GRCm39)	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,844,987 (GRCm39)	I6K	unknown	Het
Tas2r120	A	T	6: 132,634,731 (GRCm39)	H271L	probably damaging	Het
Tlcd3a	A	G	11: 76,093,057 (GRCm39)	D33G	probably benign	Het
Tnn	T	A	1: 159,943,856 (GRCm39)	T986S	possibly damaging	Het
Trim5	T	C	7: 103,928,845 (GRCm39)	H32R	probably damaging	Het
Ttc13	A	G	8: 125,410,573 (GRCm39)	I360T	possibly damaging	Het
Uaca	A	G	9: 60,778,781 (GRCm39)	E1054G	probably damaging	Het
Usp16	T	A	16: 87,268,736 (GRCm39)		probably null	Het
Wee1	T	A	7: 109,730,043 (GRCm39)	S382R	probably damaging	Het
Wnt11	T	C	7: 98,495,771 (GRCm39)	S92P	probably damaging	Het
Zfp1004	C	G	2: 150,034,141 (GRCm39)	P185R	probably damaging	Het
Zfp786	A	G	6: 47,797,160 (GRCm39)	C593R	probably damaging	Het
Zfp879	T	G	11: 50,723,989 (GRCm39)	I283L	possibly damaging	Het

Other mutations in Dvl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Dvl1	APN	4	155,938,155 (GRCm39)	missense	possibly damaging	0.85
IGL01930:Dvl1	APN	4	155,940,645 (GRCm39)	missense	possibly damaging	0.72
IGL02499:Dvl1	APN	4	155,939,237 (GRCm39)	missense	probably benign	0.10
IGL03075:Dvl1	APN	4	155,939,040 (GRCm39)	missense	probably damaging	0.99
IGL03089:Dvl1	APN	4	155,939,609 (GRCm39)	missense	probably damaging	1.00
R0525:Dvl1	UTSW	4	155,940,052 (GRCm39)	missense	probably damaging	0.99
R0624:Dvl1	UTSW	4	155,939,232 (GRCm39)	missense	probably damaging	1.00
R0633:Dvl1	UTSW	4	155,942,752 (GRCm39)	missense	probably damaging	1.00
R1459:Dvl1	UTSW	4	155,938,476 (GRCm39)	missense	probably damaging	0.99
R1955:Dvl1	UTSW	4	155,942,486 (GRCm39)	missense	possibly damaging	0.69
R1991:Dvl1	UTSW	4	155,932,273 (GRCm39)	missense	possibly damaging	0.84
R2144:Dvl1	UTSW	4	155,932,273 (GRCm39)	missense	possibly damaging	0.84
R2145:Dvl1	UTSW	4	155,932,273 (GRCm39)	missense	possibly damaging	0.84
R2156:Dvl1	UTSW	4	155,932,273 (GRCm39)	missense	possibly damaging	0.84
R2191:Dvl1	UTSW	4	155,932,273 (GRCm39)	missense	possibly damaging	0.84
R2192:Dvl1	UTSW	4	155,932,273 (GRCm39)	missense	possibly damaging	0.84
R2290:Dvl1	UTSW	4	155,932,273 (GRCm39)	missense	possibly damaging	0.84
R2292:Dvl1	UTSW	4	155,932,273 (GRCm39)	missense	possibly damaging	0.84
R2304:Dvl1	UTSW	4	155,940,041 (GRCm39)	missense	probably damaging	0.98
R2519:Dvl1	UTSW	4	155,940,000 (GRCm39)	nonsense	probably null
R3082:Dvl1	UTSW	4	155,932,316 (GRCm39)	missense	possibly damaging	0.92
R3110:Dvl1	UTSW	4	155,938,123 (GRCm39)	missense	probably damaging	0.98
R4775:Dvl1	UTSW	4	155,942,584 (GRCm39)	missense	probably benign
R5384:Dvl1	UTSW	4	155,938,143 (GRCm39)	missense	probably damaging	0.99
R6148:Dvl1	UTSW	4	155,939,409 (GRCm39)	missense	probably damaging	1.00
R6563:Dvl1	UTSW	4	155,940,710 (GRCm39)	missense	probably damaging	1.00
R7293:Dvl1	UTSW	4	155,940,625 (GRCm39)	missense	possibly damaging	0.93
R7746:Dvl1	UTSW	4	155,940,696 (GRCm39)	missense	possibly damaging	0.93
R8385:Dvl1	UTSW	4	155,940,037 (GRCm39)	missense	possibly damaging	0.68
R8847:Dvl1	UTSW	4	155,942,611 (GRCm39)	missense	possibly damaging	0.90
Z1176:Dvl1	UTSW	4	155,940,068 (GRCm39)	missense	probably benign	0.04
Z1177:Dvl1	UTSW	4	155,932,094 (GRCm39)	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