Incidental Mutation 'IGL02183:Apcdd1'
ID 284313
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 # IGL02183
Quality Score
Status
Chromosome 18
Chromosomal Location 63055398-63086886 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63084925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 374 (M374T)
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: M374T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094302
Gene: ENSMUSG00000071847
AA Change: M374T

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: M374T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125868
Gene: ENSMUSG00000071847
AA Change: M374T

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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 T A X: 162,960,465 (GRCm39) probably benign Het
Acsm4 A T 7: 119,293,075 (GRCm39) probably null Het
Arid4b A G 13: 14,344,575 (GRCm39) E551G possibly damaging Het
Bag4 A T 8: 26,258,058 (GRCm39) L423Q probably damaging Het
Celf1 C T 2: 90,831,831 (GRCm39) P96S probably damaging Het
Cracdl G A 1: 37,664,459 (GRCm39) P480S possibly damaging Het
Cry2 G A 2: 92,243,384 (GRCm39) R486W probably damaging Het
Csn1s1 G A 5: 87,825,477 (GRCm39) S228N possibly damaging Het
Ctnnd2 A G 15: 31,020,886 (GRCm39) Y1124C probably damaging Het
Cyp2j7 T C 4: 96,118,384 (GRCm39) probably benign Het
Dock7 A T 4: 98,847,228 (GRCm39) C1695S possibly damaging Het
Elmo3 T C 8: 106,034,955 (GRCm39) L415P probably benign Het
Entpd5 A G 12: 84,427,154 (GRCm39) probably benign Het
Gpatch11 T C 17: 79,149,660 (GRCm39) probably null Het
Gprin3 C A 6: 59,330,147 (GRCm39) R720I possibly damaging Het
Gria4 T G 9: 4,502,460 (GRCm39) T358P probably damaging Het
Hcn2 T C 10: 79,560,647 (GRCm39) probably null Het
Hivep3 A G 4: 119,989,221 (GRCm39) T1891A probably benign Het
Hmgcr A G 13: 96,799,635 (GRCm39) V153A probably damaging Het
Ifnar1 T C 16: 91,302,034 (GRCm39) V503A possibly damaging Het
Igf2r G A 17: 12,917,403 (GRCm39) probably benign Het
Ighg2b A G 12: 113,271,449 (GRCm39) S35P unknown Het
Jmy T C 13: 93,635,750 (GRCm39) D22G possibly damaging Het
Kdm5b T C 1: 134,552,669 (GRCm39) I1215T probably benign Het
Krt84 T C 15: 101,440,791 (GRCm39) I134V unknown Het
Magi3 T A 3: 103,992,663 (GRCm39) M270L probably benign Het
Maneal G A 4: 124,754,209 (GRCm39) T198I probably benign Het
Map7d3 A G X: 55,867,591 (GRCm39) probably benign Het
Myh7 T A 14: 55,212,188 (GRCm39) T1519S probably benign Het
Myo5a T C 9: 75,074,518 (GRCm39) probably benign Het
Naip5 T C 13: 100,358,150 (GRCm39) S1029G probably benign Het
Or14j1 G T 17: 38,146,304 (GRCm39) C138F probably damaging Het
Or4c11c A T 2: 88,662,372 (GRCm39) I304F probably benign Het
Or4g16 T A 2: 111,136,763 (GRCm39) V71E probably damaging Het
Or5d14 T C 2: 87,880,333 (GRCm39) T212A possibly damaging Het
Or5k15 T A 16: 58,710,184 (GRCm39) Q133L probably benign Het
Pald1 A T 10: 61,182,920 (GRCm39) probably benign Het
Pan2 T A 10: 128,144,944 (GRCm39) H230Q possibly damaging Het
Pcdh9 T C 14: 94,123,720 (GRCm39) I817V probably benign Het
Piezo2 A G 18: 63,153,705 (GRCm39) S2547P probably benign Het
Ppargc1b T A 18: 61,442,167 (GRCm39) probably null Het
Prdm6 T C 18: 53,597,749 (GRCm39) probably benign Het
Prr5l A T 2: 101,602,465 (GRCm39) probably benign Het
Rab3gap2 T A 1: 185,003,665 (GRCm39) L1020* probably null Het
Rhbdf1 T C 11: 32,160,543 (GRCm39) H669R probably damaging Het
Rnf150 A T 8: 83,730,234 (GRCm39) I255F probably damaging Het
Rnf17 T A 14: 56,745,325 (GRCm39) D1360E probably null Het
Sag T C 1: 87,756,197 (GRCm39) probably null Het
Scn2a C T 2: 65,501,947 (GRCm39) T90I probably benign Het
Scn9a T A 2: 66,314,955 (GRCm39) probably benign Het
Serpinb13 T C 1: 106,926,640 (GRCm39) M212T probably damaging Het
Slc39a14 C T 14: 70,544,134 (GRCm39) G484E possibly damaging Het
Slco1a1 A T 6: 141,867,669 (GRCm39) probably benign Het
Slitrk3 A T 3: 72,957,312 (GRCm39) Y487N probably damaging Het
Stkld1 T C 2: 26,836,671 (GRCm39) M279T probably benign Het
Tmem161b T C 13: 84,420,373 (GRCm39) Y125H probably damaging Het
Tmem71 A G 15: 66,426,874 (GRCm39) probably benign Het
Ubxn7 T C 16: 32,188,201 (GRCm39) F142L probably damaging Het
Vmn2r22 A G 6: 123,614,963 (GRCm39) L209P probably damaging Het
Wdr73 A T 7: 80,543,508 (GRCm39) W136R probably damaging Het
Wif1 C T 10: 120,911,181 (GRCm39) R107C probably damaging Het
Ythdf2 G T 4: 131,932,885 (GRCm39) L92M probably benign Het
Zfp53 T A 17: 21,720,512 (GRCm39) I34N possibly damaging Het
Zpld2 A G 4: 133,929,291 (GRCm39) L338S 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
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 2015-04-16