Mutagenetix > Incidental Mutation

Incidental Mutation 'R9046:Dact1'

688065

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71356658-71366881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71365534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 735 (I735V)

Ref Sequence

ENSEMBL: ENSMUSP00000058943 (fasta)

Gene Model

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

AlphaFold

Q8R4A3

Predicted Effect

probably benign
Transcript: ENSMUST00000061273
AA Change: I735V

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000058943
Gene: ENSMUSG00000044548
AA Change: I735V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150639
AA Change: I772V

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117169
Gene: ENSMUSG00000044548
AA Change: I772V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,243,525 (GRCm39)	V1796A	probably benign	Het
Abca3	A	G	17: 24,617,477 (GRCm39)	D1058G	probably damaging	Het
Adgrg6	A	G	10: 14,323,858 (GRCm39)	V431A	probably benign	Het
Amdhd1	C	T	10: 93,363,087 (GRCm39)	D334N	probably damaging	Het
Ankrd50	A	T	3: 38,506,642 (GRCm39)	M252K	probably benign	Het
Anxa3	G	A	5: 96,976,626 (GRCm39)	R204Q	probably damaging	Het
Apmap	T	C	2: 150,426,093 (GRCm39)	T352A	probably benign	Het
Arhgef4	A	G	1: 34,850,846 (GRCm39)	E464G	possibly damaging	Het
Atp11b	T	A	3: 35,852,740 (GRCm39)		probably benign	Het
Brwd1	T	A	16: 95,829,402 (GRCm39)	S1100C	probably damaging	Het
Ccm2l	T	A	2: 152,916,720 (GRCm39)	I317N	probably damaging	Het
Ccr9	C	T	9: 123,608,831 (GRCm39)	T171I	probably benign	Het
Cdh23	A	T	10: 60,218,303 (GRCm39)		probably benign	Het
Dok6	C	A	18: 89,787,221 (GRCm39)	V14L	probably benign	Het
Dthd1	A	T	5: 62,984,603 (GRCm39)	Y436F	possibly damaging	Het
Fndc9	G	T	11: 46,128,889 (GRCm39)	W136L	probably damaging	Het
Gal3st1	G	A	11: 3,948,278 (GRCm39)	V162I	probably benign	Het
Gart	A	G	16: 91,418,561 (GRCm39)	S973P	probably damaging	Het
H2-T5	A	T	17: 36,476,035 (GRCm39)		probably null	Het
Hsp90ab1	G	A	17: 45,879,969 (GRCm39)	P516S	probably damaging	Het
Htr1a	G	C	13: 105,581,816 (GRCm39)	G352A	probably damaging	Het
Hycc2	T	C	1: 58,568,945 (GRCm39)	T545A	probably damaging	Het
Isg20	A	T	7: 78,569,823 (GRCm39)	R265*	probably null	Het
Kcmf1	C	T	6: 72,825,455 (GRCm39)	A213T	probably damaging	Het
Kdm3a	A	G	6: 71,572,540 (GRCm39)	V1007A	probably damaging	Het
Klhl25	A	G	7: 75,515,337 (GRCm39)	E81G	probably damaging	Het
Klhl6	C	A	16: 19,765,803 (GRCm39)	V600F	probably damaging	Het
Kmt2b	A	G	7: 30,285,479 (GRCm39)	V471A	probably benign	Het
Lap3	A	G	5: 45,652,562 (GRCm39)	T53A	probably damaging	Het
Lmntd1	A	T	6: 145,365,565 (GRCm39)	I188N	probably damaging	Het
Lrba	A	G	3: 86,302,543 (GRCm39)	I1868V	possibly damaging	Het
Mef2d	A	T	3: 88,074,825 (GRCm39)	Y337F	probably benign	Het
Mgat4e	T	C	1: 134,474,742 (GRCm39)	T7A	possibly damaging	Het
Myo3a	G	T	2: 22,448,367 (GRCm39)	L985F	probably damaging	Het
Myof	T	C	19: 37,923,112 (GRCm39)		probably benign	Het
Ncapg2	G	A	12: 116,376,145 (GRCm39)	G77S	probably benign	Het
Nostrin	G	T	2: 68,975,123 (GRCm39)	V13L	probably benign	Het
Nup155	TGGG	TGG	15: 8,157,919 (GRCm39)		probably null	Het
Or14j6	A	G	17: 38,215,145 (GRCm39)	K236R	probably damaging	Het
Or3a10	T	C	11: 73,935,284 (GRCm39)	D272G	probably damaging	Het
Or4a75	C	T	2: 89,448,496 (GRCm39)		probably benign	Het
Or5b101	T	C	19: 13,005,115 (GRCm39)	N193D	probably benign	Het
Parp4	A	C	14: 56,864,927 (GRCm39)	K1025T	probably damaging	Het
Parvb	T	C	15: 84,174,639 (GRCm39)	I144T	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phf10	A	G	17: 15,175,160 (GRCm39)	V195A	probably damaging	Het
Prpf18	A	T	2: 4,640,464 (GRCm39)	M257K	possibly damaging	Het
Ptcd3	A	T	6: 71,870,364 (GRCm39)		probably null	Het
Ptprt	G	A	2: 161,372,361 (GRCm39)	T1437M	possibly damaging	Het
Ptx3	T	C	3: 66,132,153 (GRCm39)	F225L	probably damaging	Het
Rpl3l	A	G	17: 24,947,435 (GRCm39)	K50E	probably damaging	Het
Rubcn	T	C	16: 32,661,940 (GRCm39)	N427D	probably benign	Het
Serpinb8	G	A	1: 107,530,563 (GRCm39)	A114T	possibly damaging	Het
Sgsm1	A	G	5: 113,436,725 (GRCm39)	V35A	probably damaging	Het
Slc22a2	G	A	17: 12,834,234 (GRCm39)	A501T	probably null	Het
Slu7	G	A	11: 43,335,629 (GRCm39)	C455Y	probably damaging	Het
Src	C	A	2: 157,307,795 (GRCm39)	H235N	probably damaging	Het
Svopl	T	A	6: 37,998,531 (GRCm39)	M248L	probably benign	Het
Tbx6	G	A	7: 126,381,120 (GRCm39)		probably null	Het
Tprg1l	A	T	4: 154,242,913 (GRCm39)	I239N	probably damaging	Het
Trafd1	A	G	5: 121,513,189 (GRCm39)	F350L	probably benign	Het
Trpv3	A	G	11: 73,176,698 (GRCm39)	Y359C	probably damaging	Het
Vmn1r46	T	C	6: 89,953,585 (GRCm39)	S145P	probably damaging	Het
Vmn2r11	A	T	5: 109,202,850 (GRCm39)	F76I	probably benign	Het
Xpot	A	T	10: 121,432,149 (GRCm39)	C916*	probably null	Het
Zfp236	C	T	18: 82,637,042 (GRCm39)	E1415K	possibly damaging	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
R5028:Dact1	UTSW	12	71,365,347 (GRCm39)	nonsense	probably null
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
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'- TCTCCTACGAAGAAGCCCTG -3'
(R):5'- GACCGCGAGACATAATTTATCTTGGG -3'

Sequencing Primer
(F):5'- TATGCCTACGTGCCCAGC -3'
(R):5'- TTTCTCAGAGACTAGGGGGAG -3'

Posted On

2021-11-19