Incidental Mutation 'R7564:Dact1'
ID 585325
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 045656-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7564 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 71356658-71366881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71365325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 665 (D665G)
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: D665G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058943
Gene: ENSMUSG00000044548
AA Change: D665G

DomainStartEndE-ValueType
Pfam:Dapper 39 206 4.1e-83 PFAM
Pfam:Dapper 204 778 7.8e-184 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000150639
AA Change: D702G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117169
Gene: ENSMUSG00000044548
AA Change: D702G

DomainStartEndE-ValueType
Pfam:Dapper 39 815 1.4e-240 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 98% (56/57)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 G A 9: 104,000,288 (GRCm39) E681K possibly damaging Het
Accsl A T 2: 93,688,501 (GRCm39) M411K possibly damaging Het
Amn1 C T 6: 149,086,529 (GRCm39) M44I probably benign Het
Bag4 G A 8: 26,267,507 (GRCm39) R108* probably null Het
Cpa1 C T 6: 30,641,767 (GRCm39) T197M probably damaging Het
Cyb561d2 A G 9: 107,418,218 (GRCm39) V50A probably benign Het
Dcaf4 G A 12: 83,588,297 (GRCm39) V499I probably damaging Het
Depdc5 T G 5: 33,058,854 (GRCm39) I274M probably damaging Het
Dnah3 T A 7: 119,570,817 (GRCm39) Q2219L probably benign Het
Ect2 A T 3: 27,170,272 (GRCm39) probably benign Het
Efcab14 C A 4: 115,617,159 (GRCm39) S289R probably benign Het
Fmn2 T C 1: 174,437,140 (GRCm39) L1037P unknown Het
Fsip2 G A 2: 82,819,361 (GRCm39) M5031I probably benign Het
Gm19410 A G 8: 36,274,151 (GRCm39) M1435V probably benign Het
Gm8005 G T 14: 42,261,499 (GRCm39) Q44K Het
Hdgfl2 T A 17: 56,406,860 (GRCm39) D591E unknown Het
Hk3 C A 13: 55,159,209 (GRCm39) C449F probably damaging Het
Hmcn1 T C 1: 150,531,586 (GRCm39) M3228V probably benign Het
Kifap3 C T 1: 163,743,337 (GRCm39) R773C probably damaging Het
Kndc1 T C 7: 139,500,612 (GRCm39) V659A probably benign Het
Lhb C T 7: 45,071,101 (GRCm39) R109C probably damaging Het
Lnpep A G 17: 17,798,854 (GRCm39) I267T probably benign Het
Lypla1 T A 1: 4,878,590 (GRCm39) probably null Het
Map3k21 T C 8: 126,654,447 (GRCm39) probably null Het
Mapkbp1 A G 2: 119,844,232 (GRCm39) T319A probably benign Het
Mms19 T C 19: 41,935,455 (GRCm39) T854A probably benign Het
Mphosph8 A G 14: 56,911,495 (GRCm39) T173A probably benign Het
Mtcl1 C T 17: 66,678,322 (GRCm39) R668H probably benign Het
Myo5b G A 18: 74,767,582 (GRCm39) E297K possibly damaging Het
Nrg2 A T 18: 36,157,449 (GRCm39) L412Q probably damaging Het
Nrtn T C 17: 57,058,473 (GRCm39) D176G probably damaging Het
Nrxn1 G T 17: 90,670,334 (GRCm39) Q1134K possibly damaging Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Or51t4 C T 7: 102,598,473 (GRCm39) P267L probably damaging Het
Pick1 T C 15: 79,139,781 (GRCm39) V360A unknown Het
Pigr T A 1: 130,769,403 (GRCm39) N71K possibly damaging Het
Ppox T C 1: 171,107,765 (GRCm39) N96S probably benign Het
Pramel29 C A 4: 143,939,525 (GRCm39) C4F probably damaging Het
Qrfprl G T 6: 65,429,891 (GRCm39) E196* probably null Het
Rasa1 T C 13: 85,376,827 (GRCm39) T603A probably benign Het
Rhd T C 4: 134,603,770 (GRCm39) L97P probably damaging Het
Sec61a2 T C 2: 5,887,415 (GRCm39) I147V probably benign Het
Sh3bp1 C T 15: 78,795,760 (GRCm39) P630S probably damaging Het
Sh3d21 T C 4: 126,044,937 (GRCm39) T581A probably benign Het
Slc36a2 A G 11: 55,053,498 (GRCm39) I380T probably benign Het
Slc36a4 T A 9: 15,638,108 (GRCm39) V178D probably damaging Het
Smad7 C A 18: 75,526,906 (GRCm39) L251I probably benign Het
Sspo G A 6: 48,426,434 (GRCm39) S151N probably benign Het
St3gal4 C T 9: 34,963,549 (GRCm39) R253Q probably benign Het
Trappc14 C A 5: 138,261,104 (GRCm39) probably null Het
Ttbk1 T C 17: 46,787,857 (GRCm39) I242V possibly damaging Het
Ttn G A 2: 76,798,864 (GRCm39) A470V unknown Het
Unc13b T C 4: 43,091,258 (GRCm39) V28A probably damaging Het
Vmn1r149 A G 7: 22,137,530 (GRCm39) V42A possibly damaging Het
Zbtb21 A T 16: 97,752,740 (GRCm39) C514* probably null Het
Zfp236 A T 18: 82,662,366 (GRCm39) C570* probably null Het
Zfp277 T A 12: 40,379,594 (GRCm39) R313S probably damaging Het
Zfp329 A T 7: 12,544,967 (GRCm39) C186S probably damaging Het
Zscan4-ps2 A G 7: 11,248,954 (GRCm39) probably benign 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
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
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'- CAAGAAGTGCCGTTTCCCAG -3'
(R):5'- CTGGGACCAGATTAAACCCC -3'

Sequencing Primer
(F):5'- GTTTCCCAGACGACTCGGATAC -3'
(R):5'- AGATTAAACCCCCGCTCTCCTC -3'
Posted On 2019-10-17