Incidental Mutation 'R6759:Dact1'
ID 531157
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 044875-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6759 (G1)
Quality Score 175.009
Status Validated
Chromosome 12
Chromosomal Location 71356658-71366881 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 71364911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 564 (L564*)
Ref Sequence ENSEMBL: ENSMUSP00000117169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061273] [ENSMUST00000150639]
AlphaFold Q8R4A3
Predicted Effect probably null
Transcript: ENSMUST00000061273
AA Change: L527*
SMART Domains Protein: ENSMUSP00000058943
Gene: ENSMUSG00000044548
AA Change: L527*

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 probably null
Transcript: ENSMUST00000150639
AA Change: L564*
SMART Domains Protein: ENSMUSP00000117169
Gene: ENSMUSG00000044548
AA Change: L564*

DomainStartEndE-ValueType
Pfam:Dapper 39 815 1.4e-240 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 98% (49/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,331,692 (GRCm39) S841G probably benign Het
4933427I04Rik G T 4: 123,753,879 (GRCm39) probably benign Het
Aak1 A G 6: 86,921,399 (GRCm39) T199A probably damaging Het
Acnat2 C A 4: 49,380,254 (GRCm39) V375L probably benign Het
Aldh1a7 T C 19: 20,677,320 (GRCm39) T434A possibly damaging Het
Aldh3a2 T C 11: 61,156,088 (GRCm39) T63A probably benign Het
Anxa2 T C 9: 69,391,103 (GRCm39) S97P probably damaging Het
Apip T C 2: 102,922,191 (GRCm39) S186P probably benign Het
Apob A G 12: 8,061,049 (GRCm39) K3177R probably benign Het
Atm C T 9: 53,429,859 (GRCm39) W392* probably null Het
Atp8b1 T A 18: 64,679,161 (GRCm39) R773S probably benign Het
Bicdl2 T A 17: 23,885,718 (GRCm39) probably null Het
Bltp1 C T 3: 37,042,234 (GRCm39) T2740I possibly damaging Het
Cacng3 G A 7: 122,361,547 (GRCm39) probably null Het
Clca3a1 G T 3: 144,455,450 (GRCm39) L448M probably damaging Het
Clk4 A G 11: 51,166,401 (GRCm39) I94M possibly damaging Het
Cnot3 G T 7: 3,654,918 (GRCm39) V124F probably damaging Het
Cyp4a30b C T 4: 115,318,571 (GRCm39) A426V probably benign Het
Dnah8 T A 17: 30,882,266 (GRCm39) probably null Het
Dock5 T A 14: 68,033,445 (GRCm39) T975S probably benign Het
Dock8 C A 19: 25,104,848 (GRCm39) H739Q probably damaging Het
Efr3b T A 12: 4,034,613 (GRCm39) N186Y probably damaging Het
Enam G A 5: 88,649,550 (GRCm39) G278D probably damaging Het
Fgl2 A G 5: 21,578,256 (GRCm39) D181G probably benign Het
Gfra3 G T 18: 34,828,926 (GRCm39) S156* probably null Het
Jam3 G C 9: 27,013,276 (GRCm39) T98S probably benign Het
Ltbp2 A T 12: 84,834,184 (GRCm39) I1435N probably damaging Het
Man2a1 G A 17: 64,932,383 (GRCm39) A157T probably benign Het
Mcm3ap T A 10: 76,337,148 (GRCm39) V1361E probably benign Het
Nobox A T 6: 43,284,538 (GRCm39) L36Q possibly damaging Het
Or2ag12 T A 7: 106,277,100 (GRCm39) M198L probably benign Het
Or51a10 A G 7: 103,699,334 (GRCm39) S76P probably damaging Het
Parp4 G A 14: 56,857,947 (GRCm39) V860I probably benign Het
Pim3 T A 15: 88,747,296 (GRCm39) probably null Het
Ptpn13 A T 5: 103,713,121 (GRCm39) N1748I possibly damaging Het
Rad51ap2 A G 12: 11,507,145 (GRCm39) T356A possibly damaging Het
Ranbp2 C T 10: 58,293,559 (GRCm39) R310* probably null Het
Rassf5 C T 1: 131,109,988 (GRCm39) V190I probably benign Het
Rgl1 T G 1: 152,409,281 (GRCm39) Q481P probably damaging Het
Rrp1b A G 17: 32,276,063 (GRCm39) T537A probably benign Het
Smok3c T A 5: 138,063,699 (GRCm39) S395R probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Strn4 A T 7: 16,556,978 (GRCm39) E145V probably damaging Het
Tex21 T A 12: 76,251,086 (GRCm39) probably null Het
Usp37 G A 1: 74,534,908 (GRCm39) R13* probably null Het
Uty G T Y: 1,174,735 (GRCm39) L222I probably damaging Homo
Wwp2 A G 8: 108,267,314 (GRCm39) T309A probably damaging Het
Zfp40 C T 17: 23,395,510 (GRCm39) R359H possibly 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
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
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'- ATGTCGCAGAAGAACAGCC -3'
(R):5'- TTCTTCGTAGGAGACCTCGG -3'

Sequencing Primer
(F):5'- GCAGAAGAACAGCCTCCAGG -3'
(R):5'- GATTTCCACCGCCGGTAGTC -3'
Posted On 2018-08-01