Incidental Mutation 'R6823:Dact1'
ID 537760
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 044935-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6823 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 71356658-71366881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 71364713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Arginine at position 498 (P498R)
Ref Sequence ENSEMBL: ENSMUSP00000117169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061273] [ENSMUST00000150639]
AlphaFold Q8R4A3
Predicted Effect probably benign
Transcript: ENSMUST00000061273
AA Change: P461R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000058943
Gene: ENSMUSG00000044548
AA Change: P461R

DomainStartEndE-ValueType
Pfam:Dapper 39 206 4.1e-83 PFAM
Pfam:Dapper 204 778 7.8e-184 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150639
AA Change: P498R

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000117169
Gene: ENSMUSG00000044548
AA Change: P498R

DomainStartEndE-ValueType
Pfam:Dapper 39 815 1.4e-240 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (81/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,626,735 (GRCm39) probably null Het
Adgrv1 A G 13: 81,705,200 (GRCm39) F1537L probably damaging Het
Aggf1 T C 13: 95,501,231 (GRCm39) S384G probably benign Het
Anxa8 A T 14: 33,816,722 (GRCm39) D204V possibly damaging Het
Asap3 A T 4: 135,954,883 (GRCm39) E71V possibly damaging Het
BC024139 T C 15: 76,003,946 (GRCm39) *773W probably null Het
Bckdhb T C 9: 83,835,814 (GRCm39) V106A possibly damaging Het
Cep250 A G 2: 155,823,379 (GRCm39) D1010G probably benign Het
Chrd T A 16: 20,553,486 (GRCm39) L243Q probably damaging Het
Cib2 G T 9: 54,457,175 (GRCm39) L30I possibly damaging Het
Cpsf7 T A 19: 10,510,248 (GRCm39) L113* probably null Het
Cubn T A 2: 13,449,840 (GRCm39) I895L probably benign Het
Cyp24a1 C A 2: 170,329,899 (GRCm39) R351I probably benign Het
Cyp2a12 A T 7: 26,733,581 (GRCm39) D320V possibly damaging Het
Diaph1 T A 18: 38,009,436 (GRCm39) probably null Het
Dnah7a A T 1: 53,495,863 (GRCm39) I3198N probably benign Het
Dop1b A T 16: 93,552,373 (GRCm39) I271F possibly damaging Het
Elp1 A G 4: 56,787,939 (GRCm39) Y331H probably damaging Het
Erich3 C A 3: 154,433,074 (GRCm39) F349L probably damaging Het
Fam187b G C 7: 30,688,715 (GRCm39) V358L probably benign Het
Fat4 T A 3: 39,038,088 (GRCm39) H3913Q probably benign Het
Fbxw7 G C 3: 84,865,934 (GRCm39) E118D probably benign Het
Fgf1 A G 18: 38,980,161 (GRCm39) I71T probably damaging Het
Fryl A T 5: 73,222,560 (GRCm39) I2007K probably damaging Het
Galnt2 C G 8: 125,050,750 (GRCm39) P130A probably benign Het
H1f10 G A 6: 87,958,284 (GRCm39) R19C probably damaging Het
Hmga2 A C 10: 120,311,929 (GRCm39) S14A possibly damaging Het
Hoxb4 C T 11: 96,209,480 (GRCm39) probably benign Het
Hr A T 14: 70,802,814 (GRCm39) I756F probably damaging Het
Hspa1b A T 17: 35,177,161 (GRCm39) S275T probably benign Het
Kcnh1 T C 1: 192,187,597 (GRCm39) *99R probably null Het
Kit C A 5: 75,813,309 (GRCm39) L864I probably benign Het
Klk14 A T 7: 43,343,880 (GRCm39) K196* probably null Het
Lmod1 A G 1: 135,252,905 (GRCm39) N53S probably damaging Het
Myh13 T C 11: 67,246,984 (GRCm39) M1235T probably benign Het
Neurl3 T A 1: 36,307,785 (GRCm39) K175* probably null Het
Nlgn2 T A 11: 69,716,750 (GRCm39) K597M probably damaging Het
Npdc1 T C 2: 25,299,121 (GRCm39) M306T probably damaging Het
Obscn C T 11: 58,958,769 (GRCm39) probably null Het
Or1p1b T C 11: 74,130,522 (GRCm39) L44P probably damaging Het
Or52m2 G A 7: 102,263,693 (GRCm39) L168F probably damaging Het
Or8b49 T C 9: 38,506,201 (GRCm39) I228T possibly damaging Het
Pbrm1 A T 14: 30,806,747 (GRCm39) Y1042F probably damaging Het
Pclo T A 5: 14,727,921 (GRCm39) probably benign Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Phf12 C T 11: 77,913,337 (GRCm39) Q430* probably null Het
Plaat5 A T 19: 7,616,861 (GRCm39) probably benign Het
Pld3 C T 7: 27,235,322 (GRCm39) R302H probably damaging Het
Plekha5 T C 6: 140,471,584 (GRCm39) S112P probably benign Het
Pmfbp1 T A 8: 110,256,939 (GRCm39) S548T possibly damaging Het
Ppa1 A T 10: 61,503,382 (GRCm39) I220F probably damaging Het
Ppp2r3d A G 9: 124,439,078 (GRCm38) probably benign Het
Psmg2 A T 18: 67,781,927 (GRCm39) E164D possibly damaging Het
Rarb T C 14: 16,443,824 (GRCm38) R155G probably damaging Het
Rnf215 T C 11: 4,086,609 (GRCm39) L162S probably damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Rtkn2 G A 10: 67,862,462 (GRCm39) V330M probably damaging Het
Slc16a4 A T 3: 107,218,814 (GRCm39) I472F probably benign Het
Snx14 T C 9: 88,276,435 (GRCm39) N617D possibly damaging Het
Spire2 T C 8: 124,083,466 (GRCm39) V150A probably damaging Het
Sptbn1 C A 11: 30,064,787 (GRCm39) R1904M probably damaging Het
Swap70 A G 7: 109,880,510 (GRCm39) E575G possibly damaging Het
Tbxas1 A T 6: 38,896,087 (GRCm39) M1L possibly damaging Het
Tenm3 A T 8: 48,709,872 (GRCm39) V1688D probably damaging Het
Tgfbr3 A T 5: 107,297,780 (GRCm39) S207T probably damaging Het
Timm44 A G 8: 4,317,282 (GRCm39) F248L probably damaging Het
Tmem161a T C 8: 70,633,849 (GRCm39) L170P probably damaging Het
Tmem63a A T 1: 180,788,035 (GRCm39) Y263F possibly damaging Het
Tnfsf9 C A 17: 57,412,513 (GRCm39) L28I probably benign Het
Tph2 T A 10: 115,010,011 (GRCm39) N183I probably benign Het
Ttyh1 T C 7: 4,125,528 (GRCm39) I60T probably damaging Het
Ubn1 T G 16: 4,882,411 (GRCm39) S48A probably damaging Het
Ubr5 T C 15: 37,989,842 (GRCm39) N2019S probably benign Het
Wbp2 T C 11: 115,977,736 (GRCm39) N6D probably benign Het
Wdr59 T A 8: 112,185,672 (GRCm39) E810V possibly damaging Het
Wiz T C 17: 32,579,395 (GRCm39) D220G probably damaging Het
Yipf7 A G 5: 69,674,413 (GRCm39) L244P probably damaging Het
Zdhhc17 T C 10: 110,790,972 (GRCm39) T366A possibly damaging Het
Zfp169 A T 13: 48,644,472 (GRCm39) probably benign Het
Zfp707 C T 15: 75,841,572 (GRCm39) probably benign Het
Zfp788 A G 7: 41,298,984 (GRCm39) H540R 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
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
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'- AAGCAAGAGGTTGGCTCTG -3'
(R):5'- TGGGAAACGGCACTTCTTG -3'

Sequencing Primer
(F):5'- TCTGCCGGAGAGCTGCTC -3'
(R):5'- CGGTTTCTCCCTGACGGTG -3'
Posted On 2018-10-18