Incidental Mutation 'R9520:Apcdd1'
ID 718860
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 # R9520 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 63055398-63086886 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63083190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 340 (T340I)
Ref Sequence ENSEMBL: ENSMUSP00000094302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096554] [ENSMUST00000163716]
AlphaFold Q3U128
Predicted Effect possibly damaging
Transcript: ENSMUST00000096554
AA Change: T340I

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000094302
Gene: ENSMUSG00000071847
AA Change: T340I

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: T340I

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125868
Gene: ENSMUSG00000071847
AA Change: T340I

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Ackr3 T A 1: 90,141,971 (GRCm39) Y143* probably null Het
Actn1 A T 12: 80,240,417 (GRCm39) D223E probably damaging Het
B4galnt1 G A 10: 127,006,580 (GRCm39) E375K probably damaging Het
Cacna1b A T 2: 24,651,799 (GRCm39) S127T probably damaging Het
Cbr3 A G 16: 93,487,318 (GRCm39) D167G probably benign Het
Cdcp1 A T 9: 123,012,736 (GRCm39) N270K possibly damaging Het
Cep131 A G 11: 119,968,157 (GRCm39) V128A probably benign Het
Cfhr4 A G 1: 139,682,135 (GRCm39) S154P probably damaging Het
Chek1 T C 9: 36,625,121 (GRCm39) E320G probably benign Het
Cit T A 5: 116,079,954 (GRCm39) L755* probably null Het
Clstn2 A T 9: 97,414,763 (GRCm39) L377Q probably damaging Het
Cpne9 A T 6: 113,281,413 (GRCm39) D498V probably damaging Het
Csad A G 15: 102,097,102 (GRCm39) M1T probably null Het
Csmd3 A G 15: 47,561,608 (GRCm39) F1323L Het
Dennd2c A T 3: 103,044,484 (GRCm39) Q355L probably benign Het
Fbxw10 G A 11: 62,750,842 (GRCm39) S475N possibly damaging Het
Foxi3 A G 6: 70,937,676 (GRCm39) S303G probably damaging Het
Glra1 G C 11: 55,405,897 (GRCm39) F372L probably benign Het
Gm19410 A G 8: 36,262,637 (GRCm39) E858G probably benign Het
Gm7168 T A 17: 14,169,506 (GRCm39) V291D probably benign Het
Gpr15lg T A 14: 36,829,343 (GRCm39) T47S possibly damaging Het
Grin2b T C 6: 135,710,399 (GRCm39) Y1049C probably damaging Het
Grm2 A G 9: 106,525,230 (GRCm39) L24P Het
Guca1a T A 17: 47,711,335 (GRCm39) I4F probably benign Het
H6pd T C 4: 150,080,375 (GRCm39) I157V possibly damaging Het
Hectd3 T A 4: 116,857,882 (GRCm39) M605K probably damaging Het
Hsf2 T A 10: 57,371,996 (GRCm39) N32K probably damaging Het
Hspa1l T A 17: 35,196,972 (GRCm39) V337D probably damaging Het
Iigp1 A T 18: 60,523,451 (GRCm39) T190S probably benign Het
Iqgap1 T C 7: 80,393,869 (GRCm39) R622G probably benign Het
Lce1a1 A T 3: 92,554,109 (GRCm39) C122S unknown Het
Lrfn4 C T 19: 4,664,237 (GRCm39) R99H probably damaging Het
Lsm1 T A 8: 26,283,744 (GRCm39) V52E possibly damaging Het
Malrd1 G A 2: 16,079,631 (GRCm39) V1783I unknown Het
Mast4 T C 13: 102,925,532 (GRCm39) K464R probably damaging Het
Mpdz T C 4: 81,304,555 (GRCm39) D115G probably benign Het
Mtmr3 A T 11: 4,441,131 (GRCm39) H507Q probably damaging Het
Mycbp2 T A 14: 103,497,705 (GRCm39) M956L probably benign Het
Myo3b A G 2: 70,062,753 (GRCm39) T346A possibly damaging Het
Ndrg2 T C 14: 52,146,381 (GRCm39) I140V probably benign Het
Nsf A G 11: 103,804,709 (GRCm39) L144P probably damaging Het
Or2a25 T C 6: 42,889,051 (GRCm39) V198A probably damaging Het
Or8d2b C T 9: 38,789,039 (GRCm39) T189I probably benign Het
Pck1 G A 2: 172,997,854 (GRCm39) V308M probably damaging Het
Phip C T 9: 82,753,437 (GRCm39) R1769K possibly damaging Het
Plekhg1 T A 10: 3,906,822 (GRCm39) C635S Het
Ppp4r4 A G 12: 103,500,378 (GRCm39) I58V probably benign Het
Prkacb T C 3: 146,456,289 (GRCm39) Y170C probably damaging Het
Rnf145 A T 11: 44,452,336 (GRCm39) E438D possibly damaging Het
Rnf207 T C 4: 152,396,234 (GRCm39) Y510C probably damaging Het
Rph3a C T 5: 121,101,903 (GRCm39) C111Y probably damaging Het
Scaf8 C T 17: 3,248,285 (GRCm39) R1203W probably damaging Het
Sec23a T G 12: 59,031,974 (GRCm39) I448L probably benign Het
Slc22a27 T C 19: 7,843,227 (GRCm39) Y492C possibly damaging Het
Supv3l1 T C 10: 62,268,181 (GRCm39) K555E probably damaging Het
Tdrd3 T C 14: 87,724,696 (GRCm39) S372P probably damaging Het
Tgm1 A G 14: 55,942,296 (GRCm39) F685S probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn2r11 T C 5: 109,201,455 (GRCm39) T350A probably benign Het
Vmn2r25 A T 6: 123,830,066 (GRCm39) Y28* probably null Het
Vmn2r85 T A 10: 130,254,993 (GRCm39) I564L probably benign Het
Wdr26 G T 1: 181,036,587 (GRCm39) T183K probably benign Het
Yjefn3 A T 8: 70,341,969 (GRCm39) Y97N probably damaging Het
Zbtb38 A T 9: 96,568,104 (GRCm39) D993E probably damaging Het
Zbtb45 T C 7: 12,742,012 (GRCm39) Q82R probably damaging Het
Zdhhc8 A G 16: 18,045,044 (GRCm39) V254A probably benign Het
Zfp648 A G 1: 154,081,221 (GRCm39) D460G probably benign Het
Zfp760 T G 17: 21,941,036 (GRCm39) N70K 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
R9397:Apcdd1 UTSW 18 63,055,731 (GRCm39) start gained probably benign
R9480:Apcdd1 UTSW 18 63,055,731 (GRCm39) start gained probably benign
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'- TTCCGGTCAGATGAACACCAC -3'
(R):5'- GCAGACATGGCTCTCACTTC -3'

Sequencing Primer
(F):5'- GGTCAGATGAACACCACCCTCC -3'
(R):5'- TTCATCCCCAGATCTCAAGCAG -3'
Posted On 2022-07-18