Incidental Mutation 'R9397:Apcdd1'
ID 710915
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: 0.109) question?
Stock # R9397 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 63055398-63086886 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to T at 63055731 bp (GRCm39)
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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555G01Rik T G 14: 5,051,639 (GRCm38) V66G possibly damaging Het
A630001G21Rik G T 1: 85,653,002 (GRCm39) Y55* probably null Het
Abca8a G A 11: 109,921,173 (GRCm39) T1474I probably damaging Het
Acaca T G 11: 84,259,551 (GRCm39) I1962S probably damaging Het
Acap1 A T 11: 69,775,672 (GRCm39) S455T probably damaging Het
Acbd7 G A 2: 3,337,259 (GRCm39) probably null Het
Adamts9 A G 6: 92,878,444 (GRCm39) L541P probably damaging Het
Ankrd49 T C 9: 14,692,711 (GRCm39) N151S probably benign Het
Arhgap27 T C 11: 103,231,115 (GRCm39) D58G probably damaging Het
Btbd18 G T 2: 84,497,810 (GRCm39) A483S probably damaging Het
C2 A G 17: 35,094,965 (GRCm39) S257P probably damaging Het
Catsper3 T A 13: 55,946,725 (GRCm39) Y141N probably damaging Het
Cfap54 G A 10: 92,833,147 (GRCm39) L1160F probably damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cyp4f14 C T 17: 33,130,516 (GRCm39) G141D probably damaging Het
Duox1 C T 2: 122,150,783 (GRCm39) T286I possibly damaging Het
Epc2 G A 2: 49,378,822 (GRCm39) G92E probably damaging Het
Fmnl3 C T 15: 99,225,938 (GRCm39) probably null Het
Glyatl3 G A 17: 41,223,565 (GRCm39) R59* probably null Het
Gm3633 T A 14: 42,460,400 (GRCm39) Q181L Het
Guca1b C T 17: 47,696,560 (GRCm39) T49M probably benign Het
Hdac9 T A 12: 34,353,275 (GRCm39) H645L probably damaging Het
Hhip T C 8: 80,719,112 (GRCm39) R472G probably benign Het
Ifi203 A G 1: 173,765,547 (GRCm39) V9A probably damaging Het
Igkv9-123 A T 6: 67,931,443 (GRCm39) V41D probably damaging Het
Il5ra T A 6: 106,721,258 (GRCm39) T14S probably benign Het
Ints2 A G 11: 86,135,311 (GRCm39) S368P probably benign Het
Kat6b T A 14: 21,675,244 (GRCm39) S470T possibly damaging Het
Kmt2d A G 15: 98,747,994 (GRCm39) V3110A unknown Het
Lama2 T C 10: 26,981,117 (GRCm39) N1846D probably benign Het
Lrp1b T A 2: 40,640,922 (GRCm39) E3507D Het
Ly6g6c A G 17: 35,288,317 (GRCm39) N63S probably benign Het
Naprt C T 15: 75,763,859 (GRCm39) V354I probably null Het
Nars1 A G 18: 64,642,327 (GRCm39) S172P probably benign Het
Odr4 C T 1: 150,238,616 (GRCm39) A434T probably damaging Het
Or6c5b A G 10: 129,245,909 (GRCm39) R225G possibly damaging Het
Or7e177 T C 9: 20,211,748 (GRCm39) I85T possibly damaging Het
Pcdhb6 A G 18: 37,469,353 (GRCm39) D758G probably benign Het
Pkp4 G A 2: 59,148,856 (GRCm39) W536* probably null Het
Polr3b C T 10: 84,467,653 (GRCm39) L78F possibly damaging Het
Rasa4 T A 5: 136,129,836 (GRCm39) V272E possibly damaging Het
Syne2 A G 12: 76,040,849 (GRCm39) T3836A possibly damaging Het
Tbpl2 C T 2: 23,966,070 (GRCm39) V308I possibly damaging Het
Tcea1 T A 1: 4,962,141 (GRCm39) I176K probably damaging Het
Try5 A T 6: 41,289,314 (GRCm39) F87L probably benign Het
Ttc8 G T 12: 98,942,692 (GRCm39) G411* probably null Het
Vmn2r115 G A 17: 23,564,152 (GRCm39) W108* probably null Het
Zdhhc13 C T 7: 48,476,628 (GRCm39) T581I probably benign Het
Zfp777 G T 6: 48,021,190 (GRCm39) T144K probably benign Het
Other mutations in Apcdd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:Apcdd1 APN 18 63,066,936 (GRCm39) splice site probably benign
IGL01522:Apcdd1 APN 18 63,085,186 (GRCm39) missense possibly damaging 0.50
IGL01637:Apcdd1 APN 18 63,070,357 (GRCm39) missense probably damaging 1.00
IGL02069:Apcdd1 APN 18 63,083,054 (GRCm39) missense probably damaging 1.00
IGL02183:Apcdd1 APN 18 63,084,925 (GRCm39) missense probably damaging 0.98
IGL02268:Apcdd1 APN 18 63,083,259 (GRCm39) missense probably damaging 0.99
IGL02664:Apcdd1 APN 18 63,084,891 (GRCm39) splice site probably benign
R0207:Apcdd1 UTSW 18 63,083,150 (GRCm39) missense probably benign 0.04
R0363:Apcdd1 UTSW 18 63,070,168 (GRCm39) missense possibly damaging 0.46
R0540:Apcdd1 UTSW 18 63,084,967 (GRCm39) missense possibly damaging 0.82
R0567:Apcdd1 UTSW 18 63,067,107 (GRCm39) missense possibly damaging 0.93
R0607:Apcdd1 UTSW 18 63,084,967 (GRCm39) missense possibly damaging 0.82
R0629:Apcdd1 UTSW 18 63,067,041 (GRCm39) missense probably damaging 1.00
R1118:Apcdd1 UTSW 18 63,085,095 (GRCm39) missense probably benign
R1178:Apcdd1 UTSW 18 63,070,168 (GRCm39) missense probably damaging 1.00
R1180:Apcdd1 UTSW 18 63,070,168 (GRCm39) missense probably damaging 1.00
R1181:Apcdd1 UTSW 18 63,070,168 (GRCm39) missense probably damaging 1.00
R4363:Apcdd1 UTSW 18 63,085,003 (GRCm39) missense possibly damaging 0.95
R5534:Apcdd1 UTSW 18 63,070,105 (GRCm39) missense probably benign 0.01
R5622:Apcdd1 UTSW 18 63,069,973 (GRCm39) splice site probably null
R5771:Apcdd1 UTSW 18 63,070,027 (GRCm39) missense probably damaging 1.00
R5852:Apcdd1 UTSW 18 63,070,134 (GRCm39) missense probably damaging 1.00
R5934:Apcdd1 UTSW 18 63,084,940 (GRCm39) missense possibly damaging 0.72
R6109:Apcdd1 UTSW 18 63,070,437 (GRCm39) missense probably damaging 1.00
R6515:Apcdd1 UTSW 18 63,084,910 (GRCm39) missense probably damaging 1.00
R6625:Apcdd1 UTSW 18 63,084,929 (GRCm39) missense probably damaging 1.00
R6831:Apcdd1 UTSW 18 63,083,197 (GRCm39) nonsense probably null
R6931:Apcdd1 UTSW 18 63,066,979 (GRCm39) missense probably damaging 1.00
R7018:Apcdd1 UTSW 18 63,070,120 (GRCm39) missense probably damaging 0.98
R7115:Apcdd1 UTSW 18 63,070,024 (GRCm39) missense probably damaging 1.00
R7148:Apcdd1 UTSW 18 63,084,916 (GRCm39) missense probably damaging 1.00
R7326:Apcdd1 UTSW 18 63,085,259 (GRCm39) nonsense probably null
R8025:Apcdd1 UTSW 18 63,069,979 (GRCm39) missense probably damaging 1.00
R8114:Apcdd1 UTSW 18 63,083,127 (GRCm39) missense probably damaging 1.00
R8261:Apcdd1 UTSW 18 63,066,974 (GRCm39) missense possibly damaging 0.86
R8404:Apcdd1 UTSW 18 63,066,986 (GRCm39) missense possibly damaging 0.66
R9015:Apcdd1 UTSW 18 63,083,157 (GRCm39) missense possibly damaging 0.93
R9040:Apcdd1 UTSW 18 63,070,414 (GRCm39) missense probably damaging 0.96
R9288:Apcdd1 UTSW 18 63,055,731 (GRCm39) start gained probably benign
R9295:Apcdd1 UTSW 18 63,055,731 (GRCm39) start gained probably benign
R9297:Apcdd1 UTSW 18 63,055,731 (GRCm39) start gained probably benign
R9317:Apcdd1 UTSW 18 63,055,731 (GRCm39) start gained probably benign
R9319:Apcdd1 UTSW 18 63,055,731 (GRCm39) start gained probably benign
R9393:Apcdd1 UTSW 18 63,055,731 (GRCm39) start gained probably benign
R9394:Apcdd1 UTSW 18 63,055,731 (GRCm39) start gained probably benign
R9396:Apcdd1 UTSW 18 63,055,731 (GRCm39) start gained probably benign
R9480:Apcdd1 UTSW 18 63,055,731 (GRCm39) start gained probably benign
R9520:Apcdd1 UTSW 18 63,083,190 (GRCm39) missense possibly damaging 0.85
R9521:Apcdd1 UTSW 18 63,055,731 (GRCm39) start gained probably benign
R9599:Apcdd1 UTSW 18 63,083,269 (GRCm39) critical splice donor site probably null
X0028:Apcdd1 UTSW 18 63,070,201 (GRCm39) missense possibly damaging 0.59
Z1088:Apcdd1 UTSW 18 63,070,254 (GRCm39) missense probably benign 0.18
Z1177:Apcdd1 UTSW 18 63,055,762 (GRCm39) 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 2022-04-18