Incidental Mutation 'R8114:Apcdd1'
| ID |
631098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apcdd1
|
| Ensembl Gene |
ENSMUSG00000071847 |
| Gene Name |
adenomatosis polyposis coli down-regulated 1 |
| Synonyms |
Drapc1, EIG180 |
| MMRRC Submission |
067543-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R8114 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
63055398-63086886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63083127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 319
(N319S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096554]
[ENSMUST00000163716]
|
| AlphaFold |
Q3U128 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096554
AA Change: N319S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094302
Gene: ENSMUSG00000071847
AA Change: N319S
| Domain | Start | End | E-Value | Type |
|---|
|
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: N319S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125868
Gene: ENSMUSG00000071847
AA Change: N319S
| Domain | Start | End | E-Value | Type |
|---|
|
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: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.7%
|
| Validation Efficiency |
100% (64/64) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
G |
T |
16: 14,407,091 (GRCm39) |
E7* |
probably null |
Het |
| Abca7 |
T |
C |
10: 79,844,874 (GRCm39) |
I1532T |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,569,617 (GRCm39) |
D286G |
probably damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,741,163 (GRCm39) |
T970A |
probably benign |
Het |
| Arih1 |
A |
G |
9: 59,303,836 (GRCm39) |
M423T |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,396,140 (GRCm39) |
Q677L |
probably damaging |
Het |
| Ccdc121rt3 |
C |
A |
5: 112,503,563 (GRCm39) |
R47L |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,614,537 (GRCm39) |
N1046S |
probably damaging |
Het |
| Ccdc63 |
G |
T |
5: 122,251,244 (GRCm39) |
Q389K |
possibly damaging |
Het |
| Cd274 |
T |
C |
19: 29,361,528 (GRCm39) |
S279P |
probably damaging |
Het |
| Cdcp2 |
A |
T |
4: 106,962,555 (GRCm39) |
I243F |
probably damaging |
Het |
| Cfap298 |
T |
C |
16: 90,731,545 (GRCm39) |
T22A |
probably benign |
Het |
| Cul2 |
A |
T |
18: 3,426,164 (GRCm39) |
K414* |
probably null |
Het |
| Daglb |
A |
G |
5: 143,464,218 (GRCm39) |
H243R |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,240,122 (GRCm39) |
Y493F |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Eea1 |
G |
T |
10: 95,830,851 (GRCm39) |
E171* |
probably null |
Het |
| Eml6 |
C |
T |
11: 29,704,910 (GRCm39) |
G1545R |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,073,365 (GRCm39) |
I2463V |
probably benign |
Het |
| Fgl1 |
A |
G |
8: 41,644,620 (GRCm39) |
Y295H |
probably damaging |
Het |
| Frrs1 |
A |
G |
3: 116,675,425 (GRCm39) |
T118A |
probably damaging |
Het |
| Gdi2 |
T |
C |
13: 3,598,906 (GRCm39) |
V30A |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,165,732 (GRCm39) |
|
probably null |
Het |
| Iqsec3 |
A |
G |
6: 121,390,458 (GRCm39) |
S338P |
unknown |
Het |
| Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
| Ldah |
A |
G |
12: 8,334,039 (GRCm39) |
E310G |
probably damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,785,563 (GRCm39) |
V65A |
probably damaging |
Het |
| Myo7b |
G |
T |
18: 32,098,677 (GRCm39) |
T1735K |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,215,734 (GRCm39) |
V191D |
possibly damaging |
Het |
| Oas1e |
T |
C |
5: 120,924,708 (GRCm39) |
T377A |
unknown |
Het |
| Odr4 |
A |
T |
1: 150,264,308 (GRCm39) |
L67* |
probably null |
Het |
| Or10al6 |
T |
C |
17: 38,082,880 (GRCm39) |
F112S |
possibly damaging |
Het |
| Or10v9 |
G |
A |
19: 11,832,466 (GRCm39) |
P284S |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,530 (GRCm39) |
H193Q |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,821,738 (GRCm39) |
S70G |
possibly damaging |
Het |
| Plcl2 |
T |
C |
17: 50,994,815 (GRCm39) |
S1095P |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,862,577 (GRCm39) |
K637E |
possibly damaging |
Het |
| Rbm47 |
T |
C |
5: 66,184,196 (GRCm39) |
I136V |
probably benign |
Het |
| Serpinb3c |
A |
C |
1: 107,204,034 (GRCm39) |
N59K |
probably benign |
Het |
| Shcbp1 |
T |
A |
8: 4,817,930 (GRCm39) |
N122Y |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,923,503 (GRCm39) |
V347A |
probably benign |
Het |
| Slc22a30 |
A |
T |
19: 8,381,904 (GRCm39) |
Y122* |
probably null |
Het |
| Slc34a2 |
G |
A |
5: 53,225,701 (GRCm39) |
S450N |
probably benign |
Het |
| Snx17 |
A |
T |
5: 31,355,046 (GRCm39) |
M354L |
probably benign |
Het |
| Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
| Surf6 |
G |
A |
2: 26,782,380 (GRCm39) |
Q316* |
probably null |
Het |
| Tiprl |
A |
G |
1: 165,055,991 (GRCm39) |
S44P |
probably benign |
Het |
| Tmem39a |
T |
G |
16: 38,411,359 (GRCm39) |
L438R |
probably damaging |
Het |
| Tmem39a |
C |
A |
16: 38,411,358 (GRCm39) |
L438M |
probably damaging |
Het |
| Tns2 |
G |
C |
15: 102,019,825 (GRCm39) |
V572L |
probably benign |
Het |
| Trdn |
T |
C |
10: 32,959,624 (GRCm39) |
|
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,952,411 (GRCm39) |
I587V |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,692,394 (GRCm39) |
D952G |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,511,392 (GRCm39) |
N470K |
probably damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,805,097 (GRCm39) |
I5N |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Ythdc2 |
A |
G |
18: 45,010,807 (GRCm39) |
D1272G |
probably benign |
Het |
| Zfp959 |
A |
G |
17: 56,205,496 (GRCm39) |
Y511C |
probably benign |
Het |
|
| Other mutations in Apcdd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAACCATGCGTGCATAGCC -3'
(R):5'- AGCAGCAAAGATACCCTTTCTC -3'
Sequencing Primer
(F):5'- GCATAGCCTGCCGCATC -3'
(R):5'- TCTGTCCCAGCAGAAATGTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation