Incidental Mutation 'IGL01522:Apcdd1'
ID 89432
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 # IGL01522
Quality Score
Status
Chromosome 18
Chromosomal Location 63055398-63086886 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63085186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 461 (M461K)
Ref Sequence ENSEMBL: ENSMUSP00000125868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096554] [ENSMUST00000163716]
AlphaFold Q3U128
Predicted Effect possibly damaging
Transcript: ENSMUST00000096554
AA Change: M461K

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000094302
Gene: ENSMUSG00000071847
AA Change: M461K

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 possibly damaging
Transcript: ENSMUST00000163716
AA Change: M461K

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125868
Gene: ENSMUSG00000071847
AA Change: M461K

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T C 15: 11,065,245 (GRCm39) probably null Het
Adamts3 T C 5: 89,850,802 (GRCm39) N579S probably benign Het
Akr1c19 A G 13: 4,289,098 (GRCm39) probably benign Het
Ankrd39 T A 1: 36,581,142 (GRCm39) H69L probably damaging Het
Bpifa3 G A 2: 153,979,502 (GRCm39) C209Y probably damaging Het
Cep131 T C 11: 119,957,989 (GRCm39) E779G probably benign Het
Cep85 T C 4: 133,879,566 (GRCm39) Q394R probably damaging Het
Cep85 G T 4: 133,879,567 (GRCm39) Q394K probably damaging Het
Clcn6 T C 4: 148,101,992 (GRCm39) Y364C probably benign Het
Fetub G A 16: 22,748,391 (GRCm39) M1I probably null Het
Greb1 T C 12: 16,751,202 (GRCm39) I1003V probably damaging Het
Hsf3 A G X: 95,364,200 (GRCm39) probably benign Het
Jcad A G 18: 4,673,312 (GRCm39) N358S probably damaging Het
Kndc1 T C 7: 139,493,888 (GRCm39) probably benign Het
Lama1 A T 17: 68,059,769 (GRCm39) probably benign Het
Mark2 A G 19: 7,258,603 (GRCm39) V50A probably benign Het
Mmp7 T C 9: 7,692,229 (GRCm39) W35R probably damaging Het
Ndc80 A G 17: 71,806,320 (GRCm39) V578A probably benign Het
Nfyc T C 4: 120,638,721 (GRCm39) E42G probably damaging Het
Or1j15 A G 2: 36,459,233 (GRCm39) T208A probably benign Het
Or52b4 A T 7: 102,184,391 (GRCm39) I146F probably damaging Het
Or5d37 T C 2: 87,923,360 (GRCm39) K307E possibly damaging Het
Or8g21 A T 9: 38,906,396 (GRCm39) C112S probably benign Het
Or9i16 A T 19: 13,864,722 (GRCm39) L284* probably null Het
Pcdha11 T C 18: 37,318,061 (GRCm39) F925L probably damaging Het
Pdcd1 T G 1: 93,968,571 (GRCm39) R154S probably benign Het
Pepd T A 7: 34,623,865 (GRCm39) D87E probably benign Het
Pfn4 A G 12: 4,820,240 (GRCm39) T30A probably benign Het
Pgpep1l A G 7: 67,887,456 (GRCm39) M48T possibly damaging Het
Pla2g15 A G 8: 106,889,748 (GRCm39) N340S probably benign Het
Plcb4 A G 2: 135,844,547 (GRCm39) D155G probably damaging Het
Plg G A 17: 12,622,956 (GRCm39) G499S probably damaging Het
Plin3 C T 17: 56,587,799 (GRCm39) W305* probably null Het
Polq C A 16: 36,848,265 (GRCm39) L291I probably damaging Het
Sanbr A G 11: 23,532,865 (GRCm39) probably null Het
Sdf2l1 T A 16: 16,950,014 (GRCm39) H54L probably damaging Het
Slc38a2 C T 15: 96,590,936 (GRCm39) D276N possibly damaging Het
Syk A G 13: 52,797,097 (GRCm39) T576A probably benign Het
Tas2r119 G A 15: 32,178,339 (GRCm39) V302I probably benign Het
Uso1 T C 5: 92,329,278 (GRCm39) F389L probably damaging Het
Wwc2 T A 8: 48,321,668 (GRCm39) Y482F unknown Het
Other mutations in Apcdd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:Apcdd1 APN 18 63,066,936 (GRCm39) splice site probably benign
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
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 2013-12-03