Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:Apcdd1'

93072

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: 0.123) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

62922327-62953195 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62937286 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 208 (E208G)

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: E208G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000094302
Gene: ENSMUSG00000071847
AA Change: E208G

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: E208G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125868
Gene: ENSMUSG00000071847
AA Change: E208G

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,904,684	I384N	probably damaging	Het
Adsl	G	T	15: 80,948,700	Q51H	probably null	Het
Arrdc4	G	A	7: 68,744,832	R155*	probably null	Het
Atp9b	T	C	18: 80,756,455	E823G	probably benign	Het
Bmp1	A	G	14: 70,492,461	W468R	probably damaging	Het
C6	A	G	15: 4,759,917	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,846,710	T1392A	probably benign	Het
Dhx34	G	T	7: 16,205,473	S665Y	probably damaging	Het
Dock1	A	T	7: 135,137,813		probably null	Het
Dpp7	T	C	2: 25,354,613	N252S	probably benign	Het
Dyrk2	A	G	10: 118,860,507	V282A	probably damaging	Het
Edrf1	T	C	7: 133,650,525	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724	V150A	probably benign	Het
Fam170a	A	T	18: 50,281,667	M127L	possibly damaging	Het
Fam19a3	C	T	3: 104,773,079	V75M	probably damaging	Het
Gabrg1	T	A	5: 70,777,205	T277S	probably damaging	Het
Galntl5	T	C	5: 25,189,825		probably benign	Het
Gbp2b	A	G	3: 142,598,312	N56S	probably damaging	Het
Gfm2	T	A	13: 97,150,409	V172E	probably damaging	Het
Gm10419	T	C	5: 108,372,358		probably benign	Het
Gm7293	A	G	9: 51,623,606		noncoding transcript	Het
Gstm3	T	C	3: 107,967,633	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,686,545	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,267,733		probably benign	Het
Ighv7-1	T	A	12: 113,896,503	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,455,583	L1009P	probably damaging	Het
Kif1a	A	G	1: 93,039,853	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,245,368	D232E	possibly damaging	Het
Klb	G	A	5: 65,375,679		probably null	Het
Lrriq1	G	A	10: 103,215,628	A421V	probably benign	Het
Mdga1	G	A	17: 29,839,871	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,550,532		probably benign	Het
Myo18b	T	A	5: 112,840,629	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,547,120	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,549,378	L594I	probably damaging	Het
Notch2	C	T	3: 98,146,060	T2013I	probably damaging	Het
Olfr1018	A	T	2: 85,822,988	T6S	probably benign	Het
Olfr131	G	A	17: 38,082,103	L292F	possibly damaging	Het
Olfr593	C	A	7: 103,212,177	R95S	probably benign	Het
Olfr812	A	G	10: 129,842,610	L144P	probably benign	Het
Olfr845	T	C	9: 19,338,964	F168S	probably damaging	Het
Panx3	T	C	9: 37,664,056	D170G	probably damaging	Het
Pclo	A	G	5: 14,540,034	S783G	unknown	Het
Pde3b	T	A	7: 114,526,901	L790*	probably null	Het
Pik3r2	T	C	8: 70,772,348		probably benign	Het
Rassf4	A	G	6: 116,641,690	F211L	probably damaging	Het
Rbl2	C	T	8: 91,106,438	P666S	probably benign	Het
Rnf123	A	G	9: 108,058,238	F979L	probably damaging	Het
Rock2	T	A	12: 16,965,171	D788E	probably benign	Het
Serpina3b	A	G	12: 104,132,957	T244A	probably benign	Het
Setd1b	T	C	5: 123,148,513	S541P	unknown	Het
Slc12a4	T	C	8: 105,960,707	D60G	possibly damaging	Het
Stac2	T	C	11: 98,041,354	E241G	probably benign	Het
Tas2r115	A	G	6: 132,737,629	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,370,085	F450I	probably benign	Het
Txnl1	A	T	18: 63,674,191	I198N	probably damaging	Het
Ubr2	A	T	17: 46,956,654	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,139,900	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066	T3623I	probably damaging	Het
Usp13	T	A	3: 32,919,064	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,702,948	T203S	probably damaging	Het
Vwf	T	A	6: 125,645,736	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,646	H676R	probably benign	Het

Other mutations in Apcdd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00805:Apcdd1	APN	18	62933865	splice site	probably benign
IGL01522:Apcdd1	APN	18	62952115	missense	possibly damaging	0.50
IGL02069:Apcdd1	APN	18	62949983	missense	probably damaging	1.00
IGL02183:Apcdd1	APN	18	62951854	missense	probably damaging	0.98
IGL02268:Apcdd1	APN	18	62950188	missense	probably damaging	0.99
IGL02664:Apcdd1	APN	18	62951820	splice site	probably benign
R0207:Apcdd1	UTSW	18	62950079	missense	probably benign	0.04
R0363:Apcdd1	UTSW	18	62937097	missense	possibly damaging	0.46
R0540:Apcdd1	UTSW	18	62951896	missense	possibly damaging	0.82
R0567:Apcdd1	UTSW	18	62934036	missense	possibly damaging	0.93
R0607:Apcdd1	UTSW	18	62951896	missense	possibly damaging	0.82
R0629:Apcdd1	UTSW	18	62933970	missense	probably damaging	1.00
R1118:Apcdd1	UTSW	18	62952024	missense	probably benign
R1178:Apcdd1	UTSW	18	62937097	missense	probably damaging	1.00
R1180:Apcdd1	UTSW	18	62937097	missense	probably damaging	1.00
R1181:Apcdd1	UTSW	18	62937097	missense	probably damaging	1.00
R4363:Apcdd1	UTSW	18	62951932	missense	possibly damaging	0.95
R5534:Apcdd1	UTSW	18	62937034	missense	probably benign	0.01
R5622:Apcdd1	UTSW	18	62936902	splice site	probably null
R5771:Apcdd1	UTSW	18	62936956	missense	probably damaging	1.00
R5852:Apcdd1	UTSW	18	62937063	missense	probably damaging	1.00
R5934:Apcdd1	UTSW	18	62951869	missense	possibly damaging	0.72
R6109:Apcdd1	UTSW	18	62937366	missense	probably damaging	1.00
R6515:Apcdd1	UTSW	18	62951839	missense	probably damaging	1.00
R6625:Apcdd1	UTSW	18	62951858	missense	probably damaging	1.00
R6831:Apcdd1	UTSW	18	62950126	nonsense	probably null
R6931:Apcdd1	UTSW	18	62933908	missense	probably damaging	1.00
R7018:Apcdd1	UTSW	18	62937049	missense	probably damaging	0.98
R7115:Apcdd1	UTSW	18	62936953	missense	probably damaging	1.00
R7148:Apcdd1	UTSW	18	62951845	missense	probably damaging	1.00
R7326:Apcdd1	UTSW	18	62952188	nonsense	probably null
R8025:Apcdd1	UTSW	18	62936908	missense	probably damaging	1.00
R8114:Apcdd1	UTSW	18	62950056	missense	probably damaging	1.00
R8261:Apcdd1	UTSW	18	62933903	missense	possibly damaging	0.86
R8404:Apcdd1	UTSW	18	62933915	missense	possibly damaging	0.66
R9015:Apcdd1	UTSW	18	62950086	missense	possibly damaging	0.93
R9040:Apcdd1	UTSW	18	62937343	missense	probably damaging	0.96
R9288:Apcdd1	UTSW	18	62922660	start gained	probably benign
R9295:Apcdd1	UTSW	18	62922660	start gained	probably benign
R9297:Apcdd1	UTSW	18	62922660	start gained	probably benign
R9317:Apcdd1	UTSW	18	62922660	start gained	probably benign
R9319:Apcdd1	UTSW	18	62922660	start gained	probably benign
R9393:Apcdd1	UTSW	18	62922660	start gained	probably benign
R9394:Apcdd1	UTSW	18	62922660	start gained	probably benign
R9396:Apcdd1	UTSW	18	62922660	start gained	probably benign
R9397:Apcdd1	UTSW	18	62922660	start gained	probably benign
R9480:Apcdd1	UTSW	18	62922660	start gained	probably benign
R9520:Apcdd1	UTSW	18	62950119	missense	possibly damaging	0.85
R9521:Apcdd1	UTSW	18	62922660	start gained	probably benign
R9599:Apcdd1	UTSW	18	62950198	critical splice donor site	probably null
X0028:Apcdd1	UTSW	18	62937130	missense	possibly damaging	0.59
Z1088:Apcdd1	UTSW	18	62937183	missense	probably benign	0.18
Z1177:Apcdd1	UTSW	18	62922691	nonsense	probably null

Posted On

2013-12-09