Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01522:Apcdd1'

89432

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

Is this an essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

IGL01522

Quality Score

Status

Chromosome

Chromosomal Location

62922327-62953195 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62952115 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 461 (M461K)

Ref Sequence

ENSEMBL: ENSMUSP00000125868 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096554
AA Change: M461K

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000094302
Gene: ENSMUSG00000071847
AA Change: M461K

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

possibly damaging
Transcript: ENSMUST00000163716
AA Change: M461K

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125868
Gene: ENSMUSG00000071847
AA Change: M461K

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,582,865		probably null	Het
Adamts12	T	C	15: 11,065,159		probably null	Het
Adamts3	T	C	5: 89,702,943	N579S	probably benign	Het
Akr1c19	A	G	13: 4,239,099		probably benign	Het
Ankrd39	T	A	1: 36,542,061	H69L	probably damaging	Het
Bpifa3	G	A	2: 154,137,582	C209Y	probably damaging	Het
Cep131	T	C	11: 120,067,163	E779G	probably benign	Het
Cep85	T	C	4: 134,152,255	Q394R	probably damaging	Het
Cep85	G	T	4: 134,152,256	Q394K	probably damaging	Het
Clcn6	T	C	4: 148,017,535	Y364C	probably benign	Het
Fetub	G	A	16: 22,929,641	M1I	probably null	Het
Greb1	T	C	12: 16,701,201	I1003V	probably damaging	Het
Hsf3	A	G	X: 96,320,594		probably benign	Het
Jcad	A	G	18: 4,673,312	N358S	probably damaging	Het
Kndc1	T	C	7: 139,913,972		probably benign	Het
Lama1	A	T	17: 67,752,774		probably benign	Het
Mark2	A	G	19: 7,281,238	V50A	probably benign	Het
Mmp7	T	C	9: 7,692,228	W35R	probably damaging	Het
Ndc80	A	G	17: 71,499,325	V578A	probably benign	Het
Nfyc	T	C	4: 120,781,524	E42G	probably damaging	Het
Olfr1164	T	C	2: 88,093,016	K307E	possibly damaging	Het
Olfr1504	A	T	19: 13,887,358	L284*	probably null	Het
Olfr344	A	G	2: 36,569,221	T208A	probably benign	Het
Olfr547	A	T	7: 102,535,184	I146F	probably damaging	Het
Olfr935	A	T	9: 38,995,100	C112S	probably benign	Het
Pcdha11	T	C	18: 37,185,008	F925L	probably damaging	Het
Pdcd1	T	G	1: 94,040,846	R154S	probably benign	Het
Pepd	T	A	7: 34,924,440	D87E	probably benign	Het
Pfn4	A	G	12: 4,770,240	T30A	probably benign	Het
Pgpep1l	A	G	7: 68,237,708	M48T	possibly damaging	Het
Pla2g15	A	G	8: 106,163,116	N340S	probably benign	Het
Plcb4	A	G	2: 136,002,627	D155G	probably damaging	Het
Plg	G	A	17: 12,404,069	G499S	probably damaging	Het
Plin3	C	T	17: 56,280,799	W305*	probably null	Het
Polq	C	A	16: 37,027,903	L291I	probably damaging	Het
Sdf2l1	T	A	16: 17,132,150	H54L	probably damaging	Het
Slc38a2	C	T	15: 96,693,055	D276N	possibly damaging	Het
Syk	A	G	13: 52,643,061	T576A	probably benign	Het
Tas2r119	G	A	15: 32,178,193	V302I	probably benign	Het
Uso1	T	C	5: 92,181,419	F389L	probably damaging	Het
Wwc2	T	A	8: 47,868,633	Y482F	unknown	Het

Other mutations in Apcdd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00805:Apcdd1	APN	18	62933865	splice site	probably benign
IGL01637:Apcdd1	APN	18	62937286	missense	probably damaging	1.00
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
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

2013-12-03