Mutagenetix > Incidental Mutation

Incidental Mutation 'R5028:Dact1'

391525

Institutional Source

Beutler Lab

Gene Symbol

Dact1

Ensembl Gene

ENSMUSG00000044548

Gene Name

dishevelled-binding antagonist of beta-catenin 1

Synonyms

Frodo, Frd1, Frodo1, Dapper1, THYEX3

MMRRC Submission

042619-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5028 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

71356658-71366881 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 71365347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 709 (C709*)

Ref Sequence

ENSEMBL: ENSMUSP00000117169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061273] [ENSMUST00000150639]

AlphaFold

Q8R4A3

Predicted Effect

probably null
Transcript: ENSMUST00000061273
AA Change: C672*

SMART Domains

Protein: ENSMUSP00000058943
Gene: ENSMUSG00000044548
AA Change: C672*

Domain	Start	End	E-Value	Type
Pfam:Dapper	39	206	4.1e-83	PFAM
Pfam:Dapper	204	778	7.8e-184	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132822

Predicted Effect

probably null
Transcript: ENSMUST00000150639
AA Change: C709*

SMART Domains

Protein: ENSMUSP00000117169
Gene: ENSMUSG00000044548
AA Change: C709*

Domain	Start	End	E-Value	Type
Pfam:Dapper	39	815	1.4e-240	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

97% (62/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-binding motif at the C-terminus. It interacts with, and positively regulates dishevelled-mediated signaling pathways during development. Depletion of this mRNA from xenopus embryos resulted in loss of notochord and head structures, and mice lacking this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, abnormal embryogenesis, blind-ended colons, and abnormal renal/urinary system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,104,356 (GRCm39)	S777C	probably damaging	Het
Ano5	T	A	7: 51,187,458 (GRCm39)		probably null	Het
Arhgap17	T	A	7: 122,893,896 (GRCm39)	H508L	probably benign	Het
Arhgap29	T	A	3: 121,803,709 (GRCm39)		probably null	Het
Atp12a	T	C	14: 56,624,435 (GRCm39)	F961S	probably damaging	Het
B4galnt4	C	A	7: 140,647,975 (GRCm39)	P497Q	probably benign	Het
Camsap1	A	G	2: 25,834,568 (GRCm39)	S364P	probably damaging	Het
Ccdc150	C	A	1: 54,302,636 (GRCm39)	D85E	probably benign	Het
Cdc45	A	G	16: 18,613,930 (GRCm39)	Y291H	probably benign	Het
Comp	A	C	8: 70,829,290 (GRCm39)	N289T	probably damaging	Het
Cops3	T	A	11: 59,708,856 (GRCm39)		probably benign	Het
Crybg1	G	A	10: 43,874,208 (GRCm39)	H967Y	possibly damaging	Het
Csmd1	A	T	8: 16,039,090 (GRCm39)	F2423I	probably damaging	Het
Dcxr	T	G	11: 120,617,273 (GRCm39)	Q90P	probably damaging	Het
Ell	A	G	8: 71,043,349 (GRCm39)	Y494C	probably damaging	Het
Emilin2	T	C	17: 71,581,727 (GRCm39)	E333G	possibly damaging	Het
Eml2	T	C	7: 18,913,372 (GRCm39)		probably null	Het
Fam186b	T	A	15: 99,178,682 (GRCm39)	M215L	probably damaging	Het
Gm17078	T	A	14: 51,848,699 (GRCm39)	R13W	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hspa14	A	G	2: 3,499,206 (GRCm39)	F196S	possibly damaging	Het
Ier5	A	G	1: 154,974,849 (GRCm39)	S110P	possibly damaging	Het
Kif1a	T	A	1: 92,982,049 (GRCm39)	I793F	possibly damaging	Het
Lrrc43	T	C	5: 123,646,176 (GRCm39)	I643T	probably damaging	Het
Map3k19	A	T	1: 127,750,969 (GRCm39)	L794Q	probably benign	Het
Meox2	A	T	12: 37,158,935 (GRCm39)	M36L	probably benign	Het
Mgat5b	T	A	11: 116,875,855 (GRCm39)	L693Q	probably damaging	Het
Mup4	T	A	4: 59,958,124 (GRCm39)	E148V	possibly damaging	Het
Napb	T	C	2: 148,545,057 (GRCm39)	N162S	possibly damaging	Het
Nlgn2	T	C	11: 69,718,563 (GRCm39)	D339G	probably benign	Het
Nucks1	C	T	1: 131,855,840 (GRCm39)	R90C	possibly damaging	Het
Or11g7	T	C	14: 50,691,196 (GRCm39)	V229A	probably damaging	Het
Or5an9	T	A	19: 12,187,518 (GRCm39)	V196E	possibly damaging	Het
Plekhd1	A	T	12: 80,739,723 (GRCm39)	D24V	probably damaging	Het
Prpf4b	C	T	13: 35,083,958 (GRCm39)	P909L	probably damaging	Het
Rasgrp1	T	A	2: 117,132,485 (GRCm39)	K116*	probably null	Het
Ror1	A	G	4: 100,269,133 (GRCm39)	T324A	possibly damaging	Het
Slc24a4	G	A	12: 102,230,629 (GRCm39)	G505R	probably damaging	Het
Slc8a1	A	G	17: 81,956,702 (GRCm39)	I112T	possibly damaging	Het
Smarcc2	A	G	10: 128,297,314 (GRCm39)	S69G	probably damaging	Het
Smc2	A	T	4: 52,458,447 (GRCm39)	E429D	probably damaging	Het
Sry	T	C	Y: 2,663,312 (GRCm39)	D116G	probably damaging	Het
Tcea3	T	A	4: 135,985,246 (GRCm39)	V154E	possibly damaging	Het
Tigd2	G	A	6: 59,188,205 (GRCm39)	W357*	probably null	Het
Tmem177	T	A	1: 119,838,419 (GRCm39)	T87S	probably benign	Het
Treh	A	T	9: 44,594,186 (GRCm39)	E144V	probably null	Het
Trpm6	T	A	19: 18,764,124 (GRCm39)	D243E	probably damaging	Het
Ttn	T	C	2: 76,608,394 (GRCm39)	D17843G	probably damaging	Het
Vars2	A	C	17: 35,970,365 (GRCm39)		probably null	Het
Vmn1r201	G	A	13: 22,659,530 (GRCm39)	W248*	probably null	Het
Yap1	T	C	9: 8,001,690 (GRCm39)	T99A	probably benign	Het
Zbtb8b	C	A	4: 129,326,793 (GRCm39)	C91F	probably damaging	Het
Zfp882	A	G	8: 72,668,498 (GRCm39)	T442A	possibly damaging	Het
Zxdc	G	T	6: 90,359,320 (GRCm39)	G651C	probably benign	Het

Other mutations in Dact1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03268:Dact1	APN	12	71,364,257 (GRCm39)	missense	probably damaging	1.00
R0930:Dact1	UTSW	12	71,365,234 (GRCm39)	missense	probably damaging	1.00
R1590:Dact1	UTSW	12	71,364,349 (GRCm39)	missense	probably benign	0.34
R1669:Dact1	UTSW	12	71,365,547 (GRCm39)	missense	probably damaging	1.00
R1694:Dact1	UTSW	12	71,359,551 (GRCm39)	missense	probably damaging	1.00
R1826:Dact1	UTSW	12	71,365,118 (GRCm39)	missense	probably damaging	1.00
R4398:Dact1	UTSW	12	71,363,959 (GRCm39)	missense	probably damaging	1.00
R5917:Dact1	UTSW	12	71,365,456 (GRCm39)	missense	possibly damaging	0.75
R6432:Dact1	UTSW	12	71,365,327 (GRCm39)	missense	probably damaging	1.00
R6473:Dact1	UTSW	12	71,364,472 (GRCm39)	missense	probably benign	0.00
R6759:Dact1	UTSW	12	71,364,911 (GRCm39)	nonsense	probably null
R6823:Dact1	UTSW	12	71,364,713 (GRCm39)	missense	probably benign	0.10
R7564:Dact1	UTSW	12	71,365,325 (GRCm39)	missense	probably damaging	1.00
R7776:Dact1	UTSW	12	71,364,688 (GRCm39)	missense	probably benign
R9046:Dact1	UTSW	12	71,365,534 (GRCm39)	missense	probably benign	0.38
R9581:Dact1	UTSW	12	71,365,619 (GRCm39)	missense	probably damaging	1.00
R9582:Dact1	UTSW	12	71,365,619 (GRCm39)	missense	probably damaging	1.00
X0025:Dact1	UTSW	12	71,364,626 (GRCm39)	missense	probably damaging	1.00
Z1177:Dact1	UTSW	12	71,356,825 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TTCCCAGACGACTCGGATAC -3'
(R):5'- TGGACAAACTGGGACCAGATTAAAC -3'

Sequencing Primer
(F):5'- TGGTGGCCAAACCGAAGC -3'
(R):5'- TGGGACCAGATTAAACCCCCG -3'

Posted On

2016-06-06