Mutagenetix > Incidental Mutation

Incidental Mutation 'R2290:Dvl1'

244253

Institutional Source

Beutler Lab

Gene Symbol

Dvl1

Ensembl Gene

ENSMUSG00000029071

Gene Name

dishevelled segment polarity protein 1

Synonyms

MMRRC Submission

040289-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2290 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

155931859-155943760 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155932273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 28 (V28I)

Ref Sequence

ENSEMBL: ENSMUSP00000133137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030947] [ENSMUST00000030948] [ENSMUST00000168552]

AlphaFold

P51141

Predicted Effect

probably benign
Transcript: ENSMUST00000030947

SMART Domains

Protein: ENSMUSP00000030947
Gene: ENSMUSG00000029070

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	38	156	6.16e-4	SMART
IG	170	291	9.71e-2	SMART
transmembrane domain	340	362	N/A	INTRINSIC
low complexity region	371	384	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030948
AA Change: V28I

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030948
Gene: ENSMUSG00000029071
AA Change: V28I

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: ENSMUST00000126487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141766

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168552
AA Change: V28I

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133137
Gene: ENSMUSG00000029071
AA Change: V28I

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: ENSMUST00000143457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143886

Meta Mutation Damage Score

0.0748

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (73/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	T	C	10: 83,363,177 (GRCm39)	D62G	probably damaging	Het
Ambp	T	C	4: 63,061,924 (GRCm39)	Y335C	probably damaging	Het
Arid4a	G	T	12: 71,108,315 (GRCm39)	G40V	probably damaging	Het
Asb13	G	A	13: 3,699,418 (GRCm39)	G206D	probably damaging	Het
Ccdc7b	A	G	8: 129,857,587 (GRCm39)		probably benign	Het
Cdh15	A	T	8: 123,586,056 (GRCm39)	N145I	probably damaging	Het
Celsr3	T	C	9: 108,720,423 (GRCm39)	I2565T	probably damaging	Het
Cfap43	A	T	19: 47,761,574 (GRCm39)	M840K	probably damaging	Het
Clip4	T	C	17: 72,117,948 (GRCm39)	V331A	possibly damaging	Het
Cnnm1	A	G	19: 43,479,941 (GRCm39)	T829A	probably benign	Het
Col24a1	G	A	3: 145,218,950 (GRCm39)	G1457E	probably damaging	Het
D6Ertd527e	A	G	6: 87,088,527 (GRCm39)	N230S	unknown	Het
Dll1	T	C	17: 15,595,010 (GRCm39)	D89G	probably benign	Het
Dst	T	A	1: 34,268,281 (GRCm39)	V2901E	probably damaging	Het
Efl1	A	T	7: 82,426,878 (GRCm39)	K1125N	probably damaging	Het
Efr3a	T	A	15: 65,721,688 (GRCm39)	F437L	probably benign	Het
Eqtn	GTTCTTCTTC	GTTCTTC	4: 94,815,179 (GRCm39)		probably benign	Het
Ermp1	T	C	19: 29,601,178 (GRCm39)	D523G	probably damaging	Het
Gm38999	A	G	7: 43,077,123 (GRCm39)	E5G	probably benign	Het
Gm5828	C	T	1: 16,838,568 (GRCm39)		noncoding transcript	Het
Gnas	T	C	2: 174,141,803 (GRCm39)	F717L	probably benign	Het
H6pd	T	A	4: 150,066,338 (GRCm39)	S683C	probably damaging	Het
Il23r	G	A	6: 67,400,845 (GRCm39)	T495I	probably benign	Het
Itpr2	T	C	6: 146,324,326 (GRCm39)	N135D	probably damaging	Het
Kcns2	T	A	15: 34,838,655 (GRCm39)	L6Q	possibly damaging	Het
Khdrbs3	C	T	15: 68,901,610 (GRCm39)	R132C	probably damaging	Het
Kif2b	A	G	11: 91,466,522 (GRCm39)	V587A	probably benign	Het
Kng1	A	T	16: 22,897,875 (GRCm39)	H425L	possibly damaging	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lrrc8e	T	C	8: 4,281,770 (GRCm39)	M35T	probably damaging	Het
Med12l	A	G	3: 59,152,359 (GRCm39)	N1048S	probably damaging	Het
Mex3c	A	C	18: 73,723,764 (GRCm39)	N619T	probably damaging	Het
Mfsd4b1	G	A	10: 39,879,327 (GRCm39)	T190I	probably damaging	Het
Ncam1	A	G	9: 49,434,951 (GRCm39)		probably benign	Het
Nlrp6	G	A	7: 140,502,076 (GRCm39)	G133S	probably damaging	Het
Oplah	A	G	15: 76,186,925 (GRCm39)	V630A	probably benign	Het
Or1e26	G	T	11: 73,479,745 (GRCm39)	A273D	probably benign	Het
Or2y1	A	G	11: 49,385,857 (GRCm39)	M166V	probably benign	Het
Or5ak24	C	T	2: 85,260,544 (GRCm39)	V210M	possibly damaging	Het
Or8g36	A	G	9: 39,422,974 (GRCm39)	L14P	possibly damaging	Het
Pcnx2	A	T	8: 126,604,334 (GRCm39)		probably benign	Het
Pkhd1l1	A	T	15: 44,391,646 (GRCm39)	T1571S	probably benign	Het
Pramel13	T	A	4: 144,121,269 (GRCm39)	T252S	probably benign	Het
Pramel13	G	T	4: 144,121,692 (GRCm39)	H111N	probably benign	Het
Prr22	T	G	17: 57,078,884 (GRCm39)	F346V	probably benign	Het
Prr30	T	C	14: 101,436,211 (GRCm39)	N117S	possibly damaging	Het
Ptgfrn	A	G	3: 100,984,677 (GRCm39)	S172P	possibly damaging	Het
Ptprc	C	T	1: 138,038,926 (GRCm39)	V364I	probably benign	Het
Ptprz1	T	C	6: 23,000,990 (GRCm39)	S1027P	probably damaging	Het
Rinl	T	C	7: 28,491,696 (GRCm39)	V83A	probably benign	Het
Ros1	A	T	10: 51,994,477 (GRCm39)	S1268T	probably damaging	Het
Scly	T	C	1: 91,226,172 (GRCm39)		probably null	Het
Slc25a1	C	T	16: 17,743,712 (GRCm39)	V186M	possibly damaging	Het
Stk36	T	G	1: 74,665,303 (GRCm39)		probably benign	Het
Syn2	A	G	6: 115,251,190 (GRCm39)	T449A	possibly damaging	Het
Tecpr1	T	C	5: 144,150,881 (GRCm39)	D309G	probably damaging	Het
Tent4b	T	C	8: 88,978,603 (GRCm39)	S435P	probably damaging	Het
Tns2	T	A	15: 102,020,458 (GRCm39)	Y775N	probably damaging	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Ttl	G	A	2: 128,923,190 (GRCm39)	G177D	possibly damaging	Het
Twf1	A	G	15: 94,484,400 (GRCm39)	S41P	probably damaging	Het
Unc79	C	T	12: 103,112,625 (GRCm39)	T2174M	probably damaging	Het
Vangl2	T	A	1: 171,836,113 (GRCm39)	K340*	probably null	Het
Vmn2r72	T	A	7: 85,387,549 (GRCm39)	T672S	probably damaging	Het
Vwa7	A	G	17: 35,236,187 (GRCm39)	D47G	probably damaging	Het
Zc3h12d	A	G	10: 7,743,223 (GRCm39)	H331R	probably benign	Het
Zfa-ps	T	C	10: 52,421,112 (GRCm39)		noncoding transcript	Het
Zfp141	A	T	7: 42,124,649 (GRCm39)	C608S	probably damaging	Het
Zfp422	A	G	6: 116,603,603 (GRCm39)	I132T	possibly damaging	Het
Zfp652	A	G	11: 95,640,849 (GRCm39)	Y258C	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
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
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'- GTTCGTGAACAGCCCGAG -3'
(R):5'- GCTCTCTGACGTCCCCAGAC -3'

Sequencing Primer
(F):5'- TCAGAGCCGCTTTCCCTGG -3'
(R):5'- GACGTCCCCAGACCCGAAAG -3'

Posted On

2014-10-30