Mutagenetix > Incidental Mutation

Incidental Mutation 'R1590:Dact1'

177819

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

039627-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1590 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71356658-71366881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71364349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 340 (V340F)

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: V340F

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000058943
Gene: ENSMUSG00000044548
AA Change: V340F

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 benign
Transcript: ENSMUST00000150639
AA Change: V377F

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117169
Gene: ENSMUSG00000044548
AA Change: V377F

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

Meta Mutation Damage Score

0.0798

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.4%

Validation Efficiency

97% (69/71)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,322,370 (GRCm39)	S95P	probably damaging	Het
Ankmy1	T	C	1: 92,816,397 (GRCm39)	Y239C	probably damaging	Het
Atp12a	T	C	14: 56,617,512 (GRCm39)	S601P	probably damaging	Het
Atp1b3	T	C	9: 96,225,402 (GRCm39)	T89A	probably benign	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Brme1	A	T	8: 84,893,715 (GRCm39)	Q294L	probably benign	Het
Btnl2	A	T	17: 34,580,114 (GRCm39)	I216F	possibly damaging	Het
Cabs1	A	T	5: 88,127,490 (GRCm39)	H47L	probably damaging	Het
Ccdc68	T	A	18: 70,073,251 (GRCm39)	D66E	probably benign	Het
Cdc42ep4	T	C	11: 113,619,392 (GRCm39)	D333G	possibly damaging	Het
Ckmt1	G	A	2: 121,194,003 (GRCm39)	D389N	possibly damaging	Het
Dnah2	T	C	11: 69,412,024 (GRCm39)	T246A	probably benign	Het
Dnah2	A	G	11: 69,313,580 (GRCm39)		probably null	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Efcab14	A	G	4: 115,613,746 (GRCm39)		probably benign	Het
Eprs1	A	G	1: 185,133,707 (GRCm39)	T795A	probably damaging	Het
Esp36	T	A	17: 38,728,202 (GRCm39)	E26D	possibly damaging	Het
Fpr-rs7	T	C	17: 20,333,678 (GRCm39)	T271A	probably benign	Het
Fsip2	A	T	2: 82,813,131 (GRCm39)	H3150L	probably benign	Het
Gimap7	G	A	6: 48,700,953 (GRCm39)	V180M	probably damaging	Het
Gtf3c1	T	C	7: 125,275,833 (GRCm39)	H531R	possibly damaging	Het
Herc1	T	A	9: 66,399,235 (GRCm39)		probably benign	Het
Hip1r	A	G	5: 124,140,203 (GRCm39)	Y1061C	probably benign	Het
Ipo11	T	C	13: 107,023,225 (GRCm39)	Y420C	probably damaging	Het
Ipo8	T	C	6: 148,712,163 (GRCm39)		probably null	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Klhl1	A	T	14: 96,606,072 (GRCm39)	M243K	probably damaging	Het
Lrp2	A	G	2: 69,297,107 (GRCm39)		probably null	Het
Mag	T	C	7: 30,601,277 (GRCm39)	E439G	probably damaging	Het
Mcm3ap	T	A	10: 76,332,375 (GRCm39)	F1231I	probably benign	Het
Mcmdc2	C	T	1: 9,986,780 (GRCm39)	Q204*	probably null	Het
Mpl	A	C	4: 118,301,221 (GRCm39)	L548R	probably damaging	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Myo18b	G	A	5: 113,023,132 (GRCm39)	Q87*	probably null	Het
Nfat5	A	G	8: 108,020,522 (GRCm39)	Y22C	probably damaging	Het
Nnt	T	A	13: 119,523,197 (GRCm39)	I232L	possibly damaging	Het
Or2a52	A	G	6: 43,144,846 (GRCm39)	N285D	probably damaging	Het
Or8g17	T	C	9: 38,930,253 (GRCm39)	N195D	probably benign	Het
Or9s13	G	A	1: 92,548,467 (GRCm39)	V280M	possibly damaging	Het
Parp2	C	T	14: 51,048,001 (GRCm39)	P76S	probably benign	Het
Pick1	C	T	15: 79,129,501 (GRCm39)	H169Y	probably benign	Het
Prtg	T	A	9: 72,750,089 (GRCm39)	F164L	probably benign	Het
Pygb	A	G	2: 150,659,583 (GRCm39)	D422G	possibly damaging	Het
Samd9l	C	A	6: 3,375,761 (GRCm39)	C500F	probably benign	Het
Sbno1	A	C	5: 124,522,567 (GRCm39)	N1083K	possibly damaging	Het
Septin7	C	T	9: 25,188,900 (GRCm39)	S77F	probably damaging	Het
Slc25a44	A	G	3: 88,323,314 (GRCm39)	V264A	possibly damaging	Het
Slco1a8	C	T	6: 141,926,598 (GRCm39)	S576N	probably benign	Het
Slf2	G	T	19: 44,930,512 (GRCm39)	E530*	probably null	Het
Svs5	A	G	2: 164,079,578 (GRCm39)	S110P	possibly damaging	Het
Tmbim7	G	T	5: 3,715,338 (GRCm39)		probably null	Het
Tpgs2	T	C	18: 25,273,630 (GRCm39)	D177G	probably damaging	Het
Uba1y	T	A	Y: 826,893 (GRCm39)	F516L	probably damaging	Het
Ulk1	A	G	5: 110,943,632 (GRCm39)	V211A	probably damaging	Het
Vmn1r237	T	A	17: 21,534,301 (GRCm39)	I8N	probably damaging	Het
Vmn2r103	G	T	17: 20,014,496 (GRCm39)	M429I	probably benign	Het
Vmn2r112	T	C	17: 22,833,989 (GRCm39)		probably null	Het
Vmn2r84	T	C	10: 130,227,349 (GRCm39)		probably null	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably 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
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
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'- AAGCAGTTTGTGGTCCGCTTCC -3'
(R):5'- TGAGCCCTCGCTTTTGAAGTCC -3'

Sequencing Primer
(F):5'- TCCCATCCTGCATCCAGTAAG -3'
(R):5'- CTTTTGAAGTCCAAGGCCG -3'

Posted On

2014-04-24