Incidental Mutation 'R5917:Dact1'
ID 461422
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 044114-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5917 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 71356658-71366881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 71365456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 746 (V746L)
Ref Sequence ENSEMBL: ENSMUSP00000117169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061273] [ENSMUST00000150639]
AlphaFold Q8R4A3
Predicted Effect possibly damaging
Transcript: ENSMUST00000061273
AA Change: V709L

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000058943
Gene: ENSMUSG00000044548
AA Change: V709L

DomainStartEndE-ValueType
Pfam:Dapper 39 206 4.1e-83 PFAM
Pfam:Dapper 204 778 7.8e-184 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132822
Predicted Effect possibly damaging
Transcript: ENSMUST00000150639
AA Change: V746L

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117169
Gene: ENSMUSG00000044548
AA Change: V746L

DomainStartEndE-ValueType
Pfam:Dapper 39 815 1.4e-240 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,832,516 (GRCm39) R1153* probably null Het
Amdhd1 T C 10: 93,360,332 (GRCm39) H409R possibly damaging Het
Anks1b C T 10: 90,412,803 (GRCm39) probably benign Het
Ascc2 T C 11: 4,631,506 (GRCm39) L649P probably benign Het
Chst15 A G 7: 131,872,246 (GRCm39) F12L probably benign Het
Clec4a4 A T 6: 122,981,017 (GRCm39) K83N probably benign Het
Comp T A 8: 70,829,011 (GRCm39) probably null Het
Cryz T A 3: 154,327,403 (GRCm39) S144T probably benign Het
Ctss A G 3: 95,450,424 (GRCm39) D125G probably benign Het
Dhx29 A G 13: 113,099,377 (GRCm39) H1134R probably damaging Het
Dlgap4 A G 2: 156,546,460 (GRCm39) D376G probably damaging Het
Dnah3 T A 7: 119,615,749 (GRCm39) H1660L probably damaging Het
Ep300 T A 15: 81,512,808 (GRCm39) probably benign Het
Fbxo30 A T 10: 11,165,262 (GRCm39) probably null Het
Fcrl2 T A 3: 87,164,094 (GRCm39) H345L probably damaging Het
Galnt11 C A 5: 25,452,670 (GRCm39) probably null Het
Il31ra A G 13: 112,682,846 (GRCm39) C87R probably benign Het
Itga4 A T 2: 79,117,442 (GRCm39) Q416L probably damaging Het
Kcnt2 A T 1: 140,461,666 (GRCm39) T806S probably damaging Het
Lama2 A G 10: 27,066,693 (GRCm39) S1063P probably damaging Het
Lama4 T A 10: 38,924,028 (GRCm39) S479T probably benign Het
Lgi4 C T 7: 30,759,603 (GRCm39) T53M possibly damaging Het
Limk1 A G 5: 134,686,789 (GRCm39) F533L probably damaging Het
Loxl1 A G 9: 58,220,006 (GRCm39) L55P probably damaging Het
Map1a A G 2: 121,135,697 (GRCm39) E1933G probably damaging Het
Matn2 T A 15: 34,409,912 (GRCm39) C447* probably null Het
Mmrn1 T C 6: 60,950,134 (GRCm39) probably null Het
Or2a7 C T 6: 43,151,646 (GRCm39) S242F probably damaging Het
Or4a66 A T 2: 88,531,049 (GRCm39) I208N possibly damaging Het
Or4d1 A T 11: 87,805,215 (GRCm39) N172K probably damaging Het
Otor A G 2: 142,920,431 (GRCm39) I4M probably benign Het
P2rx3 A T 2: 84,865,591 (GRCm39) V18E probably damaging Het
Pcdh7 T C 5: 57,879,097 (GRCm39) V884A probably damaging Het
Pcdhb4 T A 18: 37,442,619 (GRCm39) V643D probably damaging Het
Pelo A G 13: 115,225,930 (GRCm39) S176P possibly damaging Het
Ppp2r3d A T 9: 101,089,183 (GRCm39) V380E probably benign Het
Proc T A 18: 32,260,513 (GRCm39) D204V probably benign Het
Prpsap2 C T 11: 61,627,870 (GRCm39) R202H probably damaging Het
Resf1 T C 6: 149,236,179 (GRCm39) F1500L probably damaging Het
Rtl1 T G 12: 109,558,087 (GRCm39) T1251P possibly damaging Het
Sema6a T G 18: 47,414,405 (GRCm39) I482L probably benign Het
Smpdl3a T A 10: 57,681,654 (GRCm39) probably null Het
Strc T A 2: 121,209,790 (GRCm39) M178L probably benign Het
Taok1 A T 11: 77,451,144 (GRCm39) M312K probably damaging Het
Tle2 T C 10: 81,416,750 (GRCm39) probably null Het
Tle3 A G 9: 61,316,190 (GRCm39) D296G probably benign Het
Trank1 A G 9: 111,191,485 (GRCm39) D498G probably benign Het
Vars1 C A 17: 35,231,491 (GRCm39) L672M probably damaging Het
Vps13d G A 4: 144,826,580 (GRCm39) T2866I probably damaging Het
Zfp423 C A 8: 88,508,860 (GRCm39) E370* probably null Het
Zfp521 T A 18: 13,978,612 (GRCm39) K600N probably damaging Het
Zfp788 A G 7: 41,298,572 (GRCm39) K351E probably benign Het
Zfp963 A T 8: 70,195,510 (GRCm39) probably null Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably damaging Het
Other mutations in Dact1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GAGGTCTCCTACGAAGAAGC -3'
(R):5'- ACGGAGGATCTTCTTCTTGAGG -3'

Sequencing Primer
(F):5'- GTCTCCTACGAAGAAGCCCTGC -3'
(R):5'- ATCTTCTTCTTGAGGTTGTGCGAAG -3'
Posted On 2017-02-28