Mutagenetix > Incidental Mutations

Incidental Mutation 'R9288:Apcdd1'

704120

Institutional Source

Beutler Lab

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: 0.150) question?

Stock #

R9288 (G1)

Quality Score

213.009

Status

Not validated

Chromosome

Chromosomal Location

62922327-62953195 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 62922660 bp (GRCm38)

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,813,618	D66G	probably benign	Het
Acot7	T	A	4: 152,206,806	H76Q	probably damaging	Het
Acsf2	C	T	11: 94,573,218	V47M	probably benign	Het
Agmat	T	C	4: 141,747,080	S91P	probably damaging	Het
Apba1	A	G	19: 23,945,781	*843W	probably null	Het
Asz1	A	G	6: 18,051,369	I437T	possibly damaging	Het
Bbs12	C	T	3: 37,320,563	L387F	probably damaging	Het
BC028528	T	C	3: 95,891,915	I6V	probably benign	Het
C6	A	C	15: 4,806,050	K770T		Het
Cacna1g	T	A	11: 94,418,071	K1669*	probably null	Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Cit	C	T	5: 115,985,453	T1436I	probably damaging	Het
Col14a1	T	A	15: 55,423,522	V913E	unknown	Het
Dlgap4	G	T	2: 156,704,594	R394L	possibly damaging	Het
Eml6	T	G	11: 29,838,641		probably null	Het
Epb41l2	A	G	10: 25,479,755	T486A	possibly damaging	Het
Fbln5	A	T	12: 101,768,469	C181*	probably null	Het
Flnb	A	C	14: 7,904,498	D967A	probably benign	Het
Glyatl3	A	G	17: 40,910,125	V117A	probably benign	Het
Gm4553	GCAGCCCCCACAGGAACTACAACCACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGA	GCAGCCCCCACAGGA	7: 142,165,288		probably benign	Het
Gpa33	G	A	1: 166,152,735	M122I	probably benign	Het
Gtf2ird2	A	G	5: 134,192,732	E58G	possibly damaging	Het
Hdlbp	T	C	1: 93,409,051	E1125G	probably benign	Het
Hook1	C	T	4: 96,013,268	R488C	probably damaging	Het
Isx	G	T	8: 74,892,811	A197S	probably benign	Het
Klhl10	G	T	11: 100,456,893	A592S	probably benign	Het
Kmt2c	A	T	5: 25,292,909	D3949E	probably damaging	Het
Kmt2c	A	T	5: 25,349,862	I1258K	probably benign	Het
Lpin3	C	A	2: 160,903,632	N618K	probably damaging	Het
Lrrc9	T	A	12: 72,476,084	D701E	probably benign	Het
Mex3a	T	A	3: 88,536,151	M178K	possibly damaging	Het
Mex3b	T	C	7: 82,868,951	V158A	probably benign	Het
Myh7	A	T	14: 54,985,475	F758I	probably benign	Het
Neb	T	G	2: 52,161,391	N6626H	probably damaging	Het
Nsmaf	T	C	4: 6,414,976	K630R	probably benign	Het
Obscn	A	T	11: 59,085,223	F2026Y	probably benign	Het
Osbpl1a	A	G	18: 12,771,345	L589P	probably damaging	Het
Pcsk5	T	C	19: 17,836,981	K58E	probably benign	Het
Poll	T	C	19: 45,558,842	I64V	probably benign	Het
Prdm10	A	G	9: 31,341,378	E469G	possibly damaging	Het
Ptprb	T	A	10: 116,319,448	N415K	probably benign	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,457,541		probably benign	Het
Rft1	A	T	14: 30,661,458	K152*	probably null	Het
Rnf180	CGAGG	CGAGGAGG	13: 105,250,273		probably benign	Het
Rnf180	GAG	GAGTAG	13: 105,250,274		probably benign	Het
Rnf180	AGG	AGGGGG	13: 105,250,275		probably benign	Het
Rnf180	GG	GGACG	13: 105,250,276		probably benign	Het
Rnf180	G	GAGA	13: 105,250,277		probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,579,912		probably benign	Het
Sfpq	T	C	4: 127,022,834	S275P	probably damaging	Het
Sorl1	A	G	9: 42,041,631	F705L	probably damaging	Het
Spata17	A	G	1: 187,112,559	V281A	possibly damaging	Het
Sulf1	G	A	1: 12,786,603	R26Q	probably benign	Het
Tbc1d4	T	C	14: 101,454,872	Y1052C	probably damaging	Het
Tgfbr2	T	C	9: 116,110,081	D251G	probably benign	Het
Tmem88b	A	T	4: 155,784,276	W172R	probably damaging	Het
Vdac2	C	A	14: 21,831,894	P7T	probably benign	Het
Vmn2r112	A	G	17: 22,603,342	K334E	probably damaging	Het
Vmn2r8	A	T	5: 108,802,319	S221T	probably benign	Het
Zfp608	G	T	18: 54,900,269	N397K	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
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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTACCTCTGAGCTGTGCAC -3'
(R):5'- GTTCGCATCCTTCCAGAAAGAAC -3'

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

Posted On

2022-03-25