Mutagenetix > Incidental Mutation

Incidental Mutation 'R9297:Apcdd1'

704705

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: 0.128) question?

Stock #

R9297 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63055398-63086886 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 63055731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096554] [ENSMUST00000163716]

AlphaFold

Q3U128

Predicted Effect

probably benign
Transcript: ENSMUST00000096554

SMART Domains

Protein: ENSMUSP00000094302
Gene: ENSMUSG00000071847

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 benign
Transcript: ENSMUST00000163716

SMART Domains

Protein: ENSMUSP00000125868
Gene: ENSMUSG00000071847

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (73/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,599,534 (GRCm39)	Q22R	probably benign	Het
Adamts20	A	G	15: 94,301,321 (GRCm39)	S68P	possibly damaging	Het
Adcy6	A	T	15: 98,491,466 (GRCm39)	N1044K	possibly damaging	Het
Ak9	T	G	10: 41,299,081 (GRCm39)	M1594R	unknown	Het
Alkbh3	A	G	2: 93,835,082 (GRCm39)	S88P	probably damaging	Het
Angpt1	A	G	15: 42,301,751 (GRCm39)	I419T	probably benign	Het
Ankrd31	A	T	13: 97,015,085 (GRCm39)	L1451F	probably benign	Het
Ap1b1	T	C	11: 4,990,157 (GRCm39)	I860T	probably benign	Het
Astn2	T	C	4: 65,460,960 (GRCm39)	D1058G	possibly damaging	Het
Atg3	A	G	16: 44,987,371 (GRCm39)	H48R	possibly damaging	Het
Bnc2	A	C	4: 84,474,136 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,496,887 (GRCm39)	Y453H	probably benign	Het
Catsperg1	T	C	7: 28,891,085 (GRCm39)	T653A	probably benign	Het
Ccdc102a	A	G	8: 95,638,120 (GRCm39)	S249P	possibly damaging	Het
Ccdc125	A	G	13: 100,832,920 (GRCm39)	Y499C	probably damaging	Het
Ccdc141	A	G	2: 76,842,028 (GRCm39)	F1468L	probably benign	Het
Ccdc162	C	A	10: 41,506,110 (GRCm39)	M893I	probably benign	Het
Ccdc33	C	A	9: 57,993,876 (GRCm39)	W335L	possibly damaging	Het
Chn2	T	A	6: 54,272,840 (GRCm39)	Y355N	probably damaging	Het
Clec4g	A	G	8: 3,766,500 (GRCm39)	M267T	probably damaging	Het
Cpa6	A	T	1: 10,554,273 (GRCm39)	D111E	possibly damaging	Het
Crlf3	A	G	11: 79,950,031 (GRCm39)	C200R	probably damaging	Het
Cyp4a10	T	C	4: 115,378,375 (GRCm39)	S164P	probably damaging	Het
Def6	A	G	17: 28,436,714 (GRCm39)	N126S	probably damaging	Het
Diaph1	G	A	18: 38,022,828 (GRCm39)	T782I	probably benign	Het
Dnah5	A	C	15: 28,204,054 (GRCm39)		probably benign	Het
Eme1	A	T	11: 94,541,614 (GRCm39)	S69R	probably benign	Het
Fat3	A	T	9: 15,908,996 (GRCm39)	D2335E	probably damaging	Het
Fstl4	A	G	11: 53,024,973 (GRCm39)	K282E	possibly damaging	Het
Galnt7	T	C	8: 57,995,555 (GRCm39)	E380G	probably damaging	Het
Gm973	A	T	1: 59,583,829 (GRCm39)	Y204F	probably damaging	Het
Hace1	T	A	10: 45,528,769 (GRCm39)	S337T	probably benign	Het
Ipo8	C	A	6: 148,703,076 (GRCm39)	C416F	possibly damaging	Het
Kcnt2	T	C	1: 140,352,933 (GRCm39)	I214T	probably damaging	Het
Kdelr3	C	A	15: 79,411,275 (GRCm39)	L203I	probably benign	Het
Kif26b	C	T	1: 178,543,374 (GRCm39)	Q336*	probably null	Het
Krt36	A	G	11: 99,994,271 (GRCm39)	Y269H	probably damaging	Het
Lamc1	G	T	1: 153,127,746 (GRCm39)	R386S	probably damaging	Het
Lipc	T	A	9: 70,727,736 (GRCm39)	D122V	probably damaging	Het
Lrba	A	G	3: 86,280,873 (GRCm39)	T1841A	probably damaging	Het
Lrit1	T	A	14: 36,783,993 (GRCm39)	D440E	probably damaging	Het
Map4	T	C	9: 109,882,480 (GRCm39)	I448T	probably benign	Het
Megf8	G	T	7: 25,030,511 (GRCm39)	C488F	probably damaging	Het
Mllt6	A	G	11: 97,563,314 (GRCm39)	E299G	probably damaging	Het
Mpst	G	T	15: 78,294,642 (GRCm39)	V125L	probably damaging	Het
Msx1	G	A	5: 37,981,756 (GRCm39)		probably benign	Het
Muc2	A	G	7: 141,302,759 (GRCm39)	E473G		Het
Myo15a	A	G	11: 60,385,899 (GRCm39)	R602G	probably null	Het
Myod1	A	T	7: 46,026,356 (GRCm39)	H87L	probably damaging	Het
Nid1	T	C	13: 13,650,897 (GRCm39)	V478A	possibly damaging	Het
Obscn	A	T	11: 58,898,359 (GRCm39)	I6634N	unknown	Het
Or52ab7	T	A	7: 102,978,583 (GRCm39)	Y297N	probably damaging	Het
Or52e7	T	C	7: 104,684,830 (GRCm39)	Y142H	probably damaging	Het
Or8k22	A	G	2: 86,163,188 (GRCm39)	Y171H	probably benign	Het
Pdgfrl	C	T	8: 41,391,268 (GRCm39)	S66F	probably damaging	Het
Phf20	G	A	2: 156,115,690 (GRCm39)	R337H	probably benign	Het
Pkhd1	T	A	1: 20,293,118 (GRCm39)	Y2834F	probably benign	Het
Plekhg4	A	C	8: 106,105,907 (GRCm39)	E768A	probably damaging	Het
Prss37	A	T	6: 40,491,909 (GRCm39)	Y224N	probably damaging	Het
Ptprs	A	T	17: 56,765,257 (GRCm39)	V9E	probably damaging	Het
Ptprt	A	G	2: 161,417,698 (GRCm39)	L926S	probably benign	Het
Rgl1	G	A	1: 152,400,454 (GRCm39)	T649I	possibly damaging	Het
Serpinf1	A	G	11: 75,307,251 (GRCm39)	S29P	probably damaging	Het
Skint6	A	T	4: 112,668,717 (GRCm39)	D1119E	probably benign	Het
Snw1	T	C	12: 87,505,674 (GRCm39)	K255E	probably damaging	Het
Sox6	T	C	7: 115,261,557 (GRCm39)	I220V	probably benign	Het
Stimate	T	A	14: 30,588,639 (GRCm39)	V122E	probably damaging	Het
Tas2r114	A	G	6: 131,666,287 (GRCm39)	I247T	probably damaging	Het
Tmem145	C	T	7: 25,008,257 (GRCm39)	T280M	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Zfp219	T	C	14: 52,246,494 (GRCm39)	H211R	probably damaging	Het
Zfp42	T	C	8: 43,748,772 (GRCm39)	N243S	possibly damaging	Het
Zkscan4	T	A	13: 21,668,201 (GRCm39)	S246R	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
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
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'- TGTACCTCTGAGCTGTGCAC -3'
(R):5'- TTCCAGAAAGAACACTGCAGCG -3'

Sequencing Primer
(F):5'- GCTGCGGTTCGGAGTCC -3'
(R):5'- AAAACCACTGCGGGTGC -3'

Posted On

2022-03-25