Incidental Mutation 'R9319:Apcdd1'
ID 706058
Institutional Source Beutler Lab
Gene Symbol Apcdd1
Ensembl Gene ENSMUSG00000071847
Gene Name adenomatosis polyposis coli down-regulated 1
Synonyms Drapc1, EIG180
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R9319 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 62922327-62953195 bp(+) (GRCm38)
Type of Mutation start gained
DNA Base Change (assembly) C to T at 62922660 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096554] [ENSMUST00000163716]
AlphaFold Q3U128
Predicted Effect probably benign
Transcript: ENSMUST00000096554
SMART Domains Protein: ENSMUSP00000094302
Gene: ENSMUSG00000071847

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
APCDDC 51 283 3.3e-140 SMART
APCDDC 284 500 6.26e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163716
SMART Domains Protein: ENSMUSP00000125868
Gene: ENSMUSG00000071847

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
APCDDC 51 283 3.3e-140 SMART
APCDDC 284 500 6.26e-91 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833423E24Rik G A 2: 85,490,413 (GRCm38) R349C probably damaging Het
4930590J08Rik A G 6: 91,945,465 (GRCm38) D811G probably damaging Het
Akap13 A G 7: 75,609,088 (GRCm38) T487A probably benign Het
Ankrd6 C T 4: 32,806,324 (GRCm38) S643N probably benign Het
Camk2b G T 11: 5,977,814 (GRCm38) P489Q probably benign Het
Ccdc151 T C 9: 21,994,907 (GRCm38) D245G probably damaging Het
Cd163l1 C T 7: 140,228,027 (GRCm38) P704S possibly damaging Het
Cd22 T A 7: 30,869,904 (GRCm38) N596Y probably damaging Het
Chst13 G A 6: 90,309,524 (GRCm38) P152L probably damaging Het
Cobl A T 11: 12,253,648 (GRCm38) V1018E probably benign Het
Cttn T C 7: 144,463,363 (GRCm38) E34G probably damaging Het
Dhx15 G A 5: 52,184,851 (GRCm38) R42* probably null Het
Dlgap4 G T 2: 156,704,594 (GRCm38) R394L possibly damaging Het
Dlst G T 12: 85,123,811 (GRCm38) R238L probably damaging Het
Dnah7c A G 1: 46,482,008 (GRCm38) E232G possibly damaging Het
Dsg1b C T 18: 20,397,947 (GRCm38) Q452* probably null Het
Elovl3 A G 19: 46,134,068 (GRCm38) T102A possibly damaging Het
Epas1 A G 17: 86,797,117 (GRCm38) S10G possibly damaging Het
Fanca T C 8: 123,291,451 (GRCm38) I613V probably benign Het
Fat1 T A 8: 44,953,023 (GRCm38) V937D probably damaging Het
Glipr1l1 G T 10: 112,062,217 (GRCm38) A76S probably damaging Het
Ino80 T C 2: 119,374,524 (GRCm38) D1507G probably benign Het
Ipo13 T C 4: 117,912,388 (GRCm38) D69G probably benign Het
Kif2c T C 4: 117,178,248 (GRCm38) probably null Het
Lrrc61 C A 6: 48,568,294 (GRCm38) T17K probably damaging Het
Ltk C A 2: 119,759,615 (GRCm38) E43D probably benign Het
Mcm3ap A G 10: 76,482,804 (GRCm38) T720A probably damaging Het
Mcoln2 T A 3: 146,169,936 (GRCm38) V81D probably damaging Het
Mturn T A 6: 54,681,795 (GRCm38) V9D probably benign Het
Nrg1 T C 8: 31,833,176 (GRCm38) D249G probably benign Het
Ntng2 T C 2: 29,201,109 (GRCm38) probably benign Het
Pax3 T A 1: 78,103,442 (GRCm38) M436L probably benign Het
Pias4 G A 10: 81,155,916 (GRCm38) P53S unknown Het
Pkhd1l1 C T 15: 44,529,578 (GRCm38) R1770C possibly damaging Het
Plk1 C A 7: 122,168,899 (GRCm38) D447E probably damaging Het
Rsph10b A C 5: 143,966,519 (GRCm38) M611L probably benign Het
Snrnp40 T C 4: 130,362,752 (GRCm38) L90P possibly damaging Het
Snu13 T C 15: 82,044,017 (GRCm38) T2A probably benign Het
Sptlc3 C T 2: 139,636,810 (GRCm38) A563V possibly damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,160,856 (GRCm38) probably null Het
Tmx3 A G 18: 90,539,944 (GRCm38) I373M probably benign Het
Tpbg C T 9: 85,843,938 (GRCm38) probably benign Het
Troap T C 15: 99,077,563 (GRCm38) I176T probably benign Het
Trpm2 G A 10: 77,942,942 (GRCm38) Q397* probably null Het
Trpm2 A T 10: 77,949,198 (GRCm38) V196E probably damaging Het
Vac14 T A 8: 110,634,386 (GRCm38) I196N probably damaging Het
Vmn2r71 C T 7: 85,624,486 (GRCm38) P836L probably damaging Het
Other mutations in Apcdd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:Apcdd1 APN 18 62,933,865 (GRCm38) splice site probably benign
IGL01522:Apcdd1 APN 18 62,952,115 (GRCm38) missense possibly damaging 0.50
IGL01637:Apcdd1 APN 18 62,937,286 (GRCm38) missense probably damaging 1.00
IGL02069:Apcdd1 APN 18 62,949,983 (GRCm38) missense probably damaging 1.00
IGL02183:Apcdd1 APN 18 62,951,854 (GRCm38) missense probably damaging 0.98
IGL02268:Apcdd1 APN 18 62,950,188 (GRCm38) missense probably damaging 0.99
IGL02664:Apcdd1 APN 18 62,951,820 (GRCm38) splice site probably benign
R0207:Apcdd1 UTSW 18 62,950,079 (GRCm38) missense probably benign 0.04
R0363:Apcdd1 UTSW 18 62,937,097 (GRCm38) missense possibly damaging 0.46
R0540:Apcdd1 UTSW 18 62,951,896 (GRCm38) missense possibly damaging 0.82
R0567:Apcdd1 UTSW 18 62,934,036 (GRCm38) missense possibly damaging 0.93
R0607:Apcdd1 UTSW 18 62,951,896 (GRCm38) missense possibly damaging 0.82
R0629:Apcdd1 UTSW 18 62,933,970 (GRCm38) missense probably damaging 1.00
R1118:Apcdd1 UTSW 18 62,952,024 (GRCm38) missense probably benign
R1178:Apcdd1 UTSW 18 62,937,097 (GRCm38) missense probably damaging 1.00
R1180:Apcdd1 UTSW 18 62,937,097 (GRCm38) missense probably damaging 1.00
R1181:Apcdd1 UTSW 18 62,937,097 (GRCm38) missense probably damaging 1.00
R4363:Apcdd1 UTSW 18 62,951,932 (GRCm38) missense possibly damaging 0.95
R5534:Apcdd1 UTSW 18 62,937,034 (GRCm38) missense probably benign 0.01
R5622:Apcdd1 UTSW 18 62,936,902 (GRCm38) splice site probably null
R5771:Apcdd1 UTSW 18 62,936,956 (GRCm38) missense probably damaging 1.00
R5852:Apcdd1 UTSW 18 62,937,063 (GRCm38) missense probably damaging 1.00
R5934:Apcdd1 UTSW 18 62,951,869 (GRCm38) missense possibly damaging 0.72
R6109:Apcdd1 UTSW 18 62,937,366 (GRCm38) missense probably damaging 1.00
R6515:Apcdd1 UTSW 18 62,951,839 (GRCm38) missense probably damaging 1.00
R6625:Apcdd1 UTSW 18 62,951,858 (GRCm38) missense probably damaging 1.00
R6831:Apcdd1 UTSW 18 62,950,126 (GRCm38) nonsense probably null
R6931:Apcdd1 UTSW 18 62,933,908 (GRCm38) missense probably damaging 1.00
R7018:Apcdd1 UTSW 18 62,937,049 (GRCm38) missense probably damaging 0.98
R7115:Apcdd1 UTSW 18 62,936,953 (GRCm38) missense probably damaging 1.00
R7148:Apcdd1 UTSW 18 62,951,845 (GRCm38) missense probably damaging 1.00
R7326:Apcdd1 UTSW 18 62,952,188 (GRCm38) nonsense probably null
R8025:Apcdd1 UTSW 18 62,936,908 (GRCm38) missense probably damaging 1.00
R8114:Apcdd1 UTSW 18 62,950,056 (GRCm38) missense probably damaging 1.00
R8261:Apcdd1 UTSW 18 62,933,903 (GRCm38) missense possibly damaging 0.86
R8404:Apcdd1 UTSW 18 62,933,915 (GRCm38) missense possibly damaging 0.66
R9015:Apcdd1 UTSW 18 62,950,086 (GRCm38) missense possibly damaging 0.93
R9040:Apcdd1 UTSW 18 62,937,343 (GRCm38) missense probably damaging 0.96
R9288:Apcdd1 UTSW 18 62,922,660 (GRCm38) start gained probably benign
R9295:Apcdd1 UTSW 18 62,922,660 (GRCm38) start gained probably benign
R9297:Apcdd1 UTSW 18 62,922,660 (GRCm38) start gained probably benign
R9317:Apcdd1 UTSW 18 62,922,660 (GRCm38) start gained probably benign
R9393:Apcdd1 UTSW 18 62,922,660 (GRCm38) start gained probably benign
R9394:Apcdd1 UTSW 18 62,922,660 (GRCm38) start gained probably benign
R9396:Apcdd1 UTSW 18 62,922,660 (GRCm38) start gained probably benign
R9397:Apcdd1 UTSW 18 62,922,660 (GRCm38) start gained probably benign
R9480:Apcdd1 UTSW 18 62,922,660 (GRCm38) start gained probably benign
R9520:Apcdd1 UTSW 18 62,950,119 (GRCm38) missense possibly damaging 0.85
R9521:Apcdd1 UTSW 18 62,922,660 (GRCm38) start gained probably benign
R9599:Apcdd1 UTSW 18 62,950,198 (GRCm38) critical splice donor site probably null
X0028:Apcdd1 UTSW 18 62,937,130 (GRCm38) missense possibly damaging 0.59
Z1088:Apcdd1 UTSW 18 62,937,183 (GRCm38) missense probably benign 0.18
Z1177:Apcdd1 UTSW 18 62,922,691 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTACCTCTGAGCTGTGCAC -3'
(R):5'- TTCCAGAAAGAACACTGCAGCG -3'

Sequencing Primer
(F):5'- GCTGCGGTTCGGAGTCC -3'
(R):5'- AAAACCACTGCGGGTGC -3'
Posted On 2022-03-25