Mutagenetix > Incidental Mutation

Incidental Mutation 'R5622:Apcdd1'

441658

Institutional Source

Beutler Lab

Gene Symbol

Apcdd1

Ensembl Gene

ENSMUSG00000071847

Gene Name

adenomatosis polyposis coli down-regulated 1

Synonyms

Drapc1, EIG180

MMRRC Submission

043161-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R5622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63055398-63086886 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 63069973 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 null
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 null
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

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (69/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,546,642 (GRCm39)	S320T	probably benign	Het
Alg8	T	A	7: 97,036,006 (GRCm39)		probably benign	Het
Anp32b	G	A	4: 46,469,930 (GRCm39)	E202K	unknown	Het
Apobec2	A	G	17: 48,730,444 (GRCm39)	V74A	possibly damaging	Het
Arid3c	A	T	4: 41,729,959 (GRCm39)	C79S	probably benign	Het
Atp1a2	A	T	1: 172,118,994 (GRCm39)		probably benign	Het
B2m	A	T	2: 121,981,471 (GRCm39)	N62I	probably damaging	Het
Borcs5	T	C	6: 134,663,086 (GRCm39)		probably null	Het
Ccn1	A	G	3: 145,355,075 (GRCm39)	L60P	probably damaging	Het
Cdk11b	A	G	4: 155,714,674 (GRCm39)	K127E	probably damaging	Het
Cep170	T	C	1: 176,563,433 (GRCm39)	H726R	possibly damaging	Het
Col5a2	A	C	1: 45,466,219 (GRCm39)	S190A	probably benign	Het
Cryba4	T	C	5: 112,398,990 (GRCm39)	D5G	probably damaging	Het
Cyp2a5	T	G	7: 26,535,299 (GRCm39)	V87G	probably damaging	Het
Dcaf8	A	G	1: 172,013,965 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,404,500 (GRCm39)	S2681P	probably benign	Het
Ddx20	A	G	3: 105,586,327 (GRCm39)	S673P	probably damaging	Het
Deptor	T	A	15: 55,044,428 (GRCm39)	I198N	probably damaging	Het
Ebf2	T	C	14: 67,628,007 (GRCm39)	I334T	possibly damaging	Het
F5	A	G	1: 164,020,134 (GRCm39)	R870G	probably benign	Het
Flg2	A	C	3: 93,109,871 (GRCm39)	H633P	unknown	Het
Gm11938	T	A	11: 99,494,119 (GRCm39)		probably null	Het
Gm6370	A	G	5: 146,430,708 (GRCm39)	T298A	probably benign	Het
H60b	C	A	10: 22,159,441 (GRCm39)		probably benign	Het
Hsbp1	A	G	8: 120,071,324 (GRCm39)	T4A	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,524 (GRCm39)	D266E	possibly damaging	Het
Ift172	T	C	5: 31,440,426 (GRCm39)	Y287C	probably damaging	Het
Il20rb	T	A	9: 100,368,371 (GRCm39)	Q4L	probably benign	Het
Krt5	T	C	15: 101,617,470 (GRCm39)	D421G	probably damaging	Het
Lonp1	G	C	17: 56,927,263 (GRCm39)	A330G	probably benign	Het
Me3	A	G	7: 89,445,871 (GRCm39)	D196G	probably damaging	Het
Mfsd12	T	A	10: 81,199,461 (GRCm39)	V451E	probably null	Het
Mib1	A	G	18: 10,794,503 (GRCm39)	N663S	possibly damaging	Het
Mtus2	A	T	5: 148,015,244 (GRCm39)	N679I	probably benign	Het
Myt1	A	G	2: 181,438,915 (GRCm39)	T146A	probably benign	Het
Neb	T	A	2: 52,160,281 (GRCm39)	H2244L	probably damaging	Het
Or51l4	T	C	7: 103,404,376 (GRCm39)	T139A	probably damaging	Het
Or5b21	A	C	19: 12,839,663 (GRCm39)	I175L	probably benign	Het
Or5p81	C	T	7: 108,267,289 (GRCm39)	T222I	probably benign	Het
Pabpc4	A	G	4: 123,185,524 (GRCm39)		probably null	Het
Padi1	C	A	4: 140,552,266 (GRCm39)	V393L	probably damaging	Het
Pax2	A	T	19: 44,806,905 (GRCm39)	D300V	probably damaging	Het
Pcgf2	T	C	11: 97,581,078 (GRCm39)	E71G	probably damaging	Het
Pi4kb	A	G	3: 94,906,172 (GRCm39)	Q573R	possibly damaging	Het
Pitpna	T	A	11: 75,511,153 (GRCm39)	M242K	possibly damaging	Het
Pkd1	A	G	17: 24,793,014 (GRCm39)	E1567G	possibly damaging	Het
Plcb2	A	T	2: 118,545,210 (GRCm39)	S630R	probably damaging	Het
Prrt2	A	T	7: 126,618,937 (GRCm39)	V176D	probably benign	Het
Prss1l	A	C	6: 41,373,084 (GRCm39)	N119H	probably damaging	Het
Prss42	T	C	9: 110,628,490 (GRCm39)		probably null	Het
Rhoq	A	G	17: 87,304,459 (GRCm39)	R197G	probably benign	Het
Rin2	A	T	2: 145,702,299 (GRCm39)	T332S	probably benign	Het
Rnps1-ps	C	T	6: 7,982,605 (GRCm39)		noncoding transcript	Het
Rp1	A	T	1: 4,418,060 (GRCm39)	N1017K	possibly damaging	Het
Setbp1	T	A	18: 78,900,700 (GRCm39)	Y989F	probably damaging	Het
Slc11a1	G	A	1: 74,420,065 (GRCm39)	G191D	probably damaging	Het
Slc35f5	G	A	1: 125,517,693 (GRCm39)	R497Q	probably damaging	Het
Slf1	T	C	13: 77,198,090 (GRCm39)	K728R	probably benign	Het
Tiparp	T	G	3: 65,454,946 (GRCm39)	S364A	probably benign	Het
Tph1	G	A	7: 46,296,969 (GRCm39)	Q409*	probably null	Het
Trp73	A	T	4: 154,145,049 (GRCm39)	I526N	possibly damaging	Het
Ttc9c	G	A	19: 8,793,332 (GRCm39)	R103*	probably null	Het
Vmn2r75	T	A	7: 85,797,702 (GRCm39)	I704F	probably benign	Het
Wdr76	A	G	2: 121,348,216 (GRCm39)	R63G	probably damaging	Het
Zc3h3	T	A	15: 75,648,928 (GRCm39)	S735C	probably damaging	Het
Zfp383	G	A	7: 29,611,615 (GRCm39)	V32M	probably damaging	Het
Zfp810	T	A	9: 22,190,392 (GRCm39)	Y172F	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
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
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'- ATTGCCTAGATTCATGGTCAGAC -3'
(R):5'- ATGACTTGGACGCCGTGAAG -3'

Sequencing Primer
(F):5'- GCCTAGATTCATGGTCAGACTCATG -3'
(R):5'- CCGTGAAGCTGGTAGTCAG -3'

Posted On

2016-11-08