Incidental Mutation 'IGL03268:Dact1'
ID 415164
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dact1
Ensembl Gene ENSMUSG00000044548
Gene Name dishevelled-binding antagonist of beta-catenin 1
Synonyms Frodo, Frd1, Frodo1, Dapper1, THYEX3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03268
Quality Score
Status
Chromosome 12
Chromosomal Location 71356658-71366881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71364257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 346 (V346A)
Ref Sequence ENSEMBL: ENSMUSP00000117169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061273] [ENSMUST00000150639]
AlphaFold Q8R4A3
Predicted Effect probably damaging
Transcript: ENSMUST00000061273
AA Change: V309A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058943
Gene: ENSMUSG00000044548
AA Change: V309A

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 damaging
Transcript: ENSMUST00000150639
AA Change: V346A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117169
Gene: ENSMUSG00000044548
AA Change: V346A

DomainStartEndE-ValueType
Pfam:Dapper 39 815 1.4e-240 PFAM
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,818,648 (GRCm39) probably benign Het
Acvrl1 A T 15: 101,033,803 (GRCm39) I162F possibly damaging Het
Adprhl1 A G 8: 13,296,170 (GRCm39) probably benign Het
Anapc7 G A 5: 122,567,669 (GRCm39) probably null Het
Ankrd13a T C 5: 114,930,296 (GRCm39) L227P probably damaging Het
Anxa5 T C 3: 36,504,828 (GRCm39) I245V probably benign Het
Arf1 A T 11: 59,103,663 (GRCm39) V123E possibly damaging Het
Catsperg1 G A 7: 28,899,668 (GRCm39) R338C probably damaging Het
Cc2d1a A C 8: 84,860,154 (GRCm39) L855R probably damaging Het
Cdh18 G A 15: 23,366,953 (GRCm39) A220T probably damaging Het
Cep350 T C 1: 155,829,295 (GRCm39) H203R probably benign Het
Cep78 G T 19: 15,951,806 (GRCm39) S333* probably null Het
Chrna2 T A 14: 66,388,395 (GRCm39) probably benign Het
Dcn A G 10: 97,319,240 (GRCm39) I6V probably benign Het
Dlg3 A G X: 99,853,493 (GRCm39) Y600C probably damaging Het
Dmd A G X: 82,849,814 (GRCm39) E1084G probably damaging Het
Epb41 A C 4: 131,655,806 (GRCm39) D825E probably damaging Het
Galc T A 12: 98,188,852 (GRCm39) probably benign Het
Hmcn1 T A 1: 150,648,261 (GRCm39) D675V probably damaging Het
Igkv2-137 A G 6: 67,533,092 (GRCm39) D85G probably benign Het
Kxd1 A G 8: 70,961,136 (GRCm39) I78T probably damaging Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lama2 A T 10: 27,298,649 (GRCm39) I149N probably damaging Het
Mbnl2 G T 14: 120,616,569 (GRCm39) C61F probably damaging Het
Mcts1 T C X: 37,690,859 (GRCm39) I22T possibly damaging Het
Or4k15b T C 14: 50,272,024 (GRCm39) T279A probably damaging Het
Or52e3 T G 7: 102,869,848 (GRCm39) F308V probably benign Het
Pde12 T A 14: 26,389,614 (GRCm39) E365V probably benign Het
Prl8a2 A G 13: 27,537,938 (GRCm39) K204R probably benign Het
Rnf25 A T 1: 74,638,217 (GRCm39) probably benign Het
Rragb A G X: 151,923,493 (GRCm39) D5G unknown Het
Rsrc2 T A 5: 123,878,790 (GRCm39) K56* probably null Het
Scn5a T C 9: 119,350,297 (GRCm39) Q859R probably damaging Het
Septin4 G A 11: 87,480,529 (GRCm39) V388M probably damaging Het
Slc29a2 C T 19: 5,074,531 (GRCm39) probably benign Het
Slc30a5 G A 13: 100,943,211 (GRCm39) T549I probably damaging Het
Slc7a2 A G 8: 41,365,554 (GRCm39) T462A probably benign Het
Spsb2 A G 6: 124,786,450 (GRCm39) E61G probably damaging Het
Srr A G 11: 74,803,943 (GRCm39) Y5H probably benign Het
Suclg2 T C 6: 95,546,573 (GRCm39) D301G probably damaging Het
Syt14 A G 1: 192,669,142 (GRCm39) V37A probably benign Het
Syt9 A G 7: 107,035,612 (GRCm39) N210D probably benign Het
Tenm3 T C 8: 48,688,558 (GRCm39) D2343G probably damaging Het
Tma7 A G 9: 108,907,450 (GRCm39) probably benign Het
Tor3a T C 1: 156,497,020 (GRCm39) D175G probably damaging Het
Tpo G T 12: 30,144,964 (GRCm39) A595D possibly damaging Het
Tpst2 T C 5: 112,456,091 (GRCm39) V210A probably damaging Het
Uchl1 A T 5: 66,839,824 (GRCm39) E122V probably benign Het
Vmn1r210 A T 13: 23,011,405 (GRCm39) F294I probably benign Het
Other mutations in Dact1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2016-08-02