Mutagenetix > Incidental Mutation

Incidental Mutation 'R2519:Dvl1'

254170

Institutional Source

Beutler Lab

Gene Symbol

Dvl1

Ensembl Gene

ENSMUSG00000029071

Gene Name

dishevelled segment polarity protein 1

Synonyms

MMRRC Submission

040423-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2519 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155931859-155943760 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 155940000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 377 (Y377*)

Ref Sequence

ENSEMBL: ENSMUSP00000133137 (fasta)

Gene Model

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

AlphaFold

P51141

Predicted Effect

probably null
Transcript: ENSMUST00000030948
AA Change: Y377*

SMART Domains

Protein: ENSMUSP00000030948
Gene: ENSMUSG00000029071
AA Change: Y377*

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

probably null
Transcript: ENSMUST00000168552
AA Change: Y377*

SMART Domains

Protein: ENSMUSP00000133137
Gene: ENSMUSG00000029071
AA Change: Y377*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156997

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (72/73)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408J17Rik	G	A	10: 93,425,450 (GRCm39)		probably benign	Het
Abtb3	T	A	10: 85,487,475 (GRCm39)	V981D	probably damaging	Het
Actn1	A	T	12: 80,239,163 (GRCm39)	H247Q	probably damaging	Het
Adgre1	T	C	17: 57,717,956 (GRCm39)	C323R	probably damaging	Het
Adgrf2	T	A	17: 43,021,298 (GRCm39)	I509F	probably damaging	Het
Aknad1	A	T	3: 108,663,784 (GRCm39)	T331S	probably damaging	Het
Aldh1a3	T	C	7: 66,072,047 (GRCm39)	D39G	probably benign	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankhd1	T	G	18: 36,711,596 (GRCm39)		probably null	Het
Arfgef2	T	C	2: 166,723,164 (GRCm39)	S1535P	probably benign	Het
Bicc1	T	C	10: 70,766,474 (GRCm39)	E916G	probably damaging	Het
Birc2	A	T	9: 7,821,180 (GRCm39)	D381E	possibly damaging	Het
Carnmt1	A	G	19: 18,671,075 (GRCm39)	I316V	probably benign	Het
Cdk2ap1rt	A	G	11: 48,716,950 (GRCm39)	I76T	probably damaging	Het
Chd6	T	A	2: 160,871,796 (GRCm39)	Y213F	possibly damaging	Het
Coq7	A	T	7: 118,109,371 (GRCm39)	W226R	unknown	Het
Cyp2d9	G	A	15: 82,338,719 (GRCm39)		probably null	Het
Ddx42	T	A	11: 106,136,155 (GRCm39)	N635K	probably damaging	Het
Dmtf1	T	C	5: 9,179,323 (GRCm39)	T292A	possibly damaging	Het
Dnajb8	T	C	6: 88,199,857 (GRCm39)	V131A	probably benign	Het
Dock6	T	C	9: 21,727,629 (GRCm39)	E1367G	possibly damaging	Het
Eif4g3	T	A	4: 137,824,629 (GRCm39)	F278Y	probably benign	Het
Fancg	A	T	4: 43,008,787 (GRCm39)	L150H	probably damaging	Het
Fastkd5	T	C	2: 130,458,114 (GRCm39)	T159A	possibly damaging	Het
Fkrp	G	T	7: 16,544,877 (GRCm39)	Y328*	probably null	Het
Fmo3	A	T	1: 162,785,874 (GRCm39)	V372D	probably damaging	Het
Gsta5	T	G	9: 78,211,721 (GRCm39)	L161R	probably damaging	Het
Gtf2h4	C	A	17: 35,981,801 (GRCm39)	G143W	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn1	A	T	1: 150,649,571 (GRCm39)	Y638*	probably null	Het
Ighv11-2	T	A	12: 114,011,912 (GRCm39)	Q101L	probably damaging	Het
Lgalsl2	A	T	7: 5,362,833 (GRCm39)	I155F	probably damaging	Het
Lipf	G	T	19: 33,942,925 (GRCm39)	V78L	probably damaging	Het
Magi3	T	C	3: 103,923,081 (GRCm39)	E1212G	probably benign	Het
Mfap5	T	C	6: 122,502,948 (GRCm39)	S75P	probably damaging	Het
Mn1	C	A	5: 111,566,418 (GRCm39)	H129Q	possibly damaging	Het
Morc3	A	G	16: 93,659,427 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myo5c	A	G	9: 75,157,718 (GRCm39)	I224V	probably damaging	Het
Nup58	T	C	14: 60,460,808 (GRCm39)	T486A	probably benign	Het
Or5m13b	A	G	2: 85,753,951 (GRCm39)	Y113C	probably damaging	Het
Or8b46	T	A	9: 38,450,281 (GRCm39)	V30D	probably damaging	Het
Parp14	A	T	16: 35,678,573 (GRCm39)	L465Q	possibly damaging	Het
Pcare	C	T	17: 72,058,642 (GRCm39)	S345N	probably damaging	Het
Plcd3	A	T	11: 102,971,226 (GRCm39)	I110N	possibly damaging	Het
Prx	A	G	7: 27,217,668 (GRCm39)	E862G	probably benign	Het
Rad50	G	A	11: 53,598,012 (GRCm39)		probably benign	Het
Rbm15	A	G	3: 107,238,149 (GRCm39)	S750P	probably benign	Het
Reln	C	A	5: 22,549,367 (GRCm39)	A14S	unknown	Het
Rph3a	T	C	5: 121,092,485 (GRCm39)	Y372C	probably damaging	Het
Serpine2	T	A	1: 79,777,256 (GRCm39)	H187L	possibly damaging	Het
Slc11a2	T	C	15: 100,299,204 (GRCm39)	D122G	probably damaging	Het
Slc25a32	A	T	15: 38,959,450 (GRCm39)	V289E	probably damaging	Het
Slc25a46	A	T	18: 31,735,814 (GRCm39)	S142T	probably benign	Het
Srm	A	G	4: 148,675,961 (GRCm39)		probably null	Het
Srsf5	A	G	12: 80,995,870 (GRCm39)	D123G	probably damaging	Het
Stab1	A	T	14: 30,876,829 (GRCm39)	C832S	probably damaging	Het
Stab2	A	C	10: 86,770,704 (GRCm39)		probably benign	Het
Suds3	T	C	5: 117,233,018 (GRCm39)	N282S	probably damaging	Het
Taar9	A	T	10: 23,985,152 (GRCm39)	V94E	probably damaging	Het
Taf2	C	A	15: 54,915,643 (GRCm39)	A428S	probably benign	Het
Tbk1	G	T	10: 121,393,164 (GRCm39)	T462K	probably benign	Het
Tcaf2	T	G	6: 42,606,365 (GRCm39)	I530L	possibly damaging	Het
Tigd4	A	G	3: 84,501,221 (GRCm39)	Y46C	probably damaging	Het
Topors	G	T	4: 40,261,714 (GRCm39)	Y523*	probably null	Het
Tpte	T	C	8: 22,823,176 (GRCm39)		probably benign	Het
Trpv5	T	A	6: 41,651,284 (GRCm39)	Q254L	probably damaging	Het
Trpv6	G	A	6: 41,601,550 (GRCm39)	Q457*	probably null	Het
Ush2a	A	T	1: 187,999,304 (GRCm39)	M205L	probably benign	Het
Vmn1r90	A	T	7: 14,295,643 (GRCm39)	Y152N	probably damaging	Het
Vmn2r124	T	A	17: 18,294,280 (GRCm39)	V789D	probably damaging	Het
Vmn2r99	T	C	17: 19,598,970 (GRCm39)	I218T	probably damaging	Het
Vstm2b	T	C	7: 40,552,299 (GRCm39)	V248A	probably benign	Het
Wnk2	T	C	13: 49,224,505 (GRCm39)	K1019E	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp229	T	A	17: 21,964,568 (GRCm39)	F266Y	possibly damaging	Het
Zfp616	T	A	11: 73,975,094 (GRCm39)	C454*	probably null	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
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
R3112: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'- GTTACCCCATGGAAAGGTGG -3'
(R):5'- CCTTCATATGTAATGGGCCCC -3'

Sequencing Primer
(F):5'- CCATGGAAAGGTGGGGTAG -3'
(R):5'- ATGTAATGGGCCCCTGTAATAGCTC -3'

Posted On

2014-12-04