Incidental Mutation 'IGL02069:Apcdd1'
ID 185759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apcdd1
Ensembl Gene ENSMUSG00000071847
Gene Name adenomatosis polyposis coli down-regulated 1
Synonyms Drapc1, EIG180
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # IGL02069
Quality Score
Status
Chromosome 18
Chromosomal Location 63055398-63086886 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63083054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 295 (W295R)
Ref Sequence ENSEMBL: ENSMUSP00000125868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096554] [ENSMUST00000163716]
AlphaFold Q3U128
Predicted Effect probably damaging
Transcript: ENSMUST00000096554
AA Change: W295R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094302
Gene: ENSMUSG00000071847
AA Change: W295R

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 damaging
Transcript: ENSMUST00000163716
AA Change: W295R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125868
Gene: ENSMUSG00000071847
AA Change: W295R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
APCDDC 51 283 3.3e-140 SMART
APCDDC 284 500 6.26e-91 SMART
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G A 7: 78,742,500 (GRCm39) V569M possibly damaging Het
Alms1 T C 6: 85,605,805 (GRCm39) V2016A probably benign Het
Arid5b T A 10: 67,933,229 (GRCm39) D648V probably damaging Het
C2cd6 A G 1: 59,091,700 (GRCm39) probably benign Het
Cst12 A T 2: 148,634,368 (GRCm39) D101V probably damaging Het
Cyp46a1 T A 12: 108,312,394 (GRCm39) Y135N probably benign Het
D630045J12Rik T C 6: 38,161,007 (GRCm39) S1046G probably damaging Het
Dhtkd1 A T 2: 5,935,745 (GRCm39) Y122* probably null Het
Disp2 T A 2: 118,621,161 (GRCm39) I631N possibly damaging Het
Dna2 A G 10: 62,794,773 (GRCm39) I387V probably benign Het
Dnah7a A T 1: 53,601,053 (GRCm39) probably benign Het
Eif2ak3 T C 6: 70,873,949 (GRCm39) F954S probably damaging Het
Elp1 C T 4: 56,779,731 (GRCm39) G560D probably benign Het
Fancm C A 12: 65,122,685 (GRCm39) A69D probably benign Het
Fbxo34 T A 14: 47,767,070 (GRCm39) D143E probably damaging Het
Fchsd1 G A 18: 38,100,667 (GRCm39) R144* probably null Het
Fip1l1 A G 5: 74,752,534 (GRCm39) D402G probably damaging Het
Frem1 A G 4: 82,821,788 (GRCm39) S2107P probably damaging Het
Gm1527 A G 3: 28,980,763 (GRCm39) N621S possibly damaging Het
Hddc2 G A 10: 31,192,314 (GRCm39) D54N probably damaging Het
Ighm T A 12: 113,384,768 (GRCm39) probably benign Het
Il17d G T 14: 57,779,972 (GRCm39) E165* probably null Het
Kmt5b A T 19: 3,857,335 (GRCm39) K364M probably damaging Het
Ldb1 C A 19: 46,021,617 (GRCm39) W390L possibly damaging Het
Lgmn T C 12: 102,370,558 (GRCm39) E124G possibly damaging Het
Mroh2b A G 15: 4,933,806 (GRCm39) probably benign Het
Pga5 C T 19: 10,646,763 (GRCm39) G323S possibly damaging Het
Pkd1l3 A T 8: 110,362,012 (GRCm39) N1018I probably damaging Het
Polr2b A G 5: 77,491,044 (GRCm39) T962A probably benign Het
Ptger1 A G 8: 84,396,086 (GRCm39) E381G probably benign Het
Sec24a A T 11: 51,624,761 (GRCm39) probably benign Het
Serpine2 T A 1: 79,799,129 (GRCm39) I42F possibly damaging Het
Sh3tc1 C T 5: 35,876,339 (GRCm39) R122Q probably benign Het
Slc15a2 T C 16: 36,579,613 (GRCm39) I347V probably benign Het
Snx4 T C 16: 33,084,725 (GRCm39) Y80H probably damaging Het
Spata16 C A 3: 26,786,944 (GRCm39) C207* probably null Het
Syne2 A G 12: 75,974,186 (GRCm39) Q1128R probably benign Het
Tamalin A G 15: 101,122,346 (GRCm39) Y55C probably damaging Het
Trpm4 T A 7: 44,968,718 (GRCm39) N405I probably damaging Het
Upp2 A G 2: 58,661,429 (GRCm39) 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
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
R9397: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
Posted On 2014-05-07