Mutagenetix > Incidental Mutation

Incidental Mutation 'R4398:Dact1'

325599

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

041130-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71356658-71366881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71363959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 210 (Y210H)

Ref Sequence

ENSEMBL: ENSMUSP00000058943 (fasta)

Gene Model

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

AlphaFold

Q8R4A3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061273
AA Change: Y210H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058943
Gene: ENSMUSG00000044548
AA Change: Y210H

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 damaging
Transcript: ENSMUST00000150639
AA Change: Y247H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117169
Gene: ENSMUSG00000044548
AA Change: Y247H

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

Meta Mutation Damage Score

0.3386

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

96% (53/55)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	C	A	15: 94,231,576 (GRCm39)	R871L	possibly damaging	Het
Adcy5	G	A	16: 35,089,363 (GRCm39)	C520Y	probably damaging	Het
AI661453	G	A	17: 47,779,042 (GRCm39)		probably benign	Het
Bptf	T	C	11: 107,001,670 (GRCm39)	K481E	probably damaging	Het
Cnot10	T	A	9: 114,460,949 (GRCm39)	K74*	probably null	Het
Ctc1	C	T	11: 68,913,697 (GRCm39)	P200S	probably damaging	Het
Dbn1	T	C	13: 55,623,194 (GRCm39)	T430A	probably benign	Het
Dmd	A	C	X: 82,765,624 (GRCm39)	T657P	probably benign	Het
Efnb2	C	T	8: 8,670,832 (GRCm39)	R256H	possibly damaging	Het
Eif4a1	T	C	11: 69,560,070 (GRCm39)	I116M	possibly damaging	Het
F730035P03Rik	A	T	7: 99,429,475 (GRCm39)		noncoding transcript	Het
Fbn1	C	T	2: 125,239,701 (GRCm39)	V329I	probably benign	Het
Gpr20	G	A	15: 73,568,125 (GRCm39)	T88I	probably benign	Het
Herc1	T	G	9: 66,386,735 (GRCm39)	V3783G	probably benign	Het
Khdc1a	A	G	1: 21,420,617 (GRCm39)	D79G	possibly damaging	Het
Klk1b16	A	T	7: 43,790,851 (GRCm39)	I218F	probably damaging	Het
Malrd1	C	T	2: 16,155,594 (GRCm39)	T2001I	unknown	Het
Mia3	A	G	1: 183,111,733 (GRCm39)	S556P	probably damaging	Het
Myo3a	T	A	2: 22,467,854 (GRCm39)	D369E	probably benign	Het
Nelfa	T	C	5: 34,058,623 (GRCm39)	D279G	possibly damaging	Het
Ntrk3	A	T	7: 77,900,517 (GRCm39)	C607*	probably null	Het
Or13a20	T	C	7: 140,232,741 (GRCm39)	V283A	possibly damaging	Het
Pclo	A	T	5: 14,825,380 (GRCm39)	Q1371L	probably damaging	Het
Pdzd2	A	T	15: 12,376,061 (GRCm39)	V1358E	probably benign	Het
Pgr	T	C	9: 8,903,750 (GRCm39)		probably null	Het
Prag1	A	G	8: 36,570,809 (GRCm39)	D464G	probably damaging	Het
Prickle4	A	G	17: 48,001,456 (GRCm39)		probably benign	Het
Prim2	A	G	1: 33,551,192 (GRCm39)	Y309H	probably damaging	Het
Prkaa1	A	G	15: 5,206,642 (GRCm39)	Q464R	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rint1	T	A	5: 23,999,445 (GRCm39)	I78K	possibly damaging	Het
Rnf130	T	A	11: 49,962,205 (GRCm39)	F217Y	probably benign	Het
Smad7	T	C	18: 75,527,234 (GRCm39)	V360A	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Stag1	A	G	9: 100,838,659 (GRCm39)		probably benign	Het
Tlr12	T	A	4: 128,509,988 (GRCm39)	D754V	probably benign	Het
Tmf1	G	A	6: 97,155,857 (GRCm39)	P43L	probably damaging	Het
Togaram1	A	G	12: 65,027,630 (GRCm39)	N873S	probably benign	Het
Tsn	C	T	1: 118,238,799 (GRCm39)		probably benign	Het
Ubn1	A	G	16: 4,882,289 (GRCm39)	K250R	probably damaging	Het
Vmn1r25	A	T	6: 57,955,812 (GRCm39)	V159D	probably damaging	Het
Vmn2r89	T	C	14: 51,689,551 (GRCm39)	L18P	probably damaging	Het
Vps8	T	G	16: 21,323,216 (GRCm39)	N689K	probably damaging	Het
Ythdc1	T	A	5: 86,963,513 (GRCm39)	D30E	possibly damaging	Het
Ythdc1	G	T	5: 86,983,679 (GRCm39)		probably benign	Het
Zfp407	G	A	18: 84,580,856 (GRCm39)	Q86*	probably null	Het
Zfp521	C	T	18: 13,979,601 (GRCm39)	E271K	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
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
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'- AGAGTCGAAGTGGCTCTACC -3'
(R):5'- AAACTGCTTGGAGATGGCAG -3'

Sequencing Primer
(F):5'- AGTCGAAGTGGCTCTACCGATTC -3'
(R):5'- GTGGCGTTCAGTTCAGATCCAATG -3'

Posted On

2015-07-06