Mutagenetix > Incidental Mutations

Incidental Mutation 'R9396:Apcdd1'

710863

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 #

R9396 (G1)

Quality Score

225.009

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: 99.9%
10x: 99.7%
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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	A	17: 84,692,854	F281I	probably damaging	Het
Acad8	A	G	9: 26,975,745	M402T	probably damaging	Het
Apol7a	T	C	15: 77,389,725	E179G	possibly damaging	Het
Asmt	A	G	X: 170,676,406	T217A	probably benign	Het
Cadm2	T	C	16: 66,747,216	Y318C	probably damaging	Het
Cckar	G	A	5: 53,707,281	T26M	probably damaging	Het
Cd300ld	G	A	11: 114,987,404	T94I	probably damaging	Het
Cdk5rap2	A	G	4: 70,254,666	Y1390H	possibly damaging	Het
Cdk5rap2	C	T	4: 70,264,658	S1268N	probably damaging	Het
Csrnp3	C	T	2: 66,002,497	R127C	probably damaging	Het
Dsc2	T	A	18: 20,041,716	R501*	probably null	Het
Dusp2	C	T	2: 127,337,718	R294C	probably damaging	Het
Edrf1	A	G	7: 133,660,109	K878E	possibly damaging	Het
Evc	T	C	5: 37,319,090	T372A	possibly damaging	Het
Fam205c	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823		probably benign	Het
Fcgr1	T	A	3: 96,287,074	K166*	probably null	Het
Fstl4	C	A	11: 52,773,951	P36Q	probably benign	Het
Gas2l2	A	T	11: 83,422,833	I551N	probably benign	Het
Hc	G	T	2: 35,037,603	S333*	probably null	Het
Ibsp	A	G	5: 104,310,431	Y278C	probably damaging	Het
Ifitm10	A	T	7: 142,370,967	V45D	probably damaging	Het
Kcnc3	T	C	7: 44,591,513	S210P	possibly damaging	Het
Klhl3	T	G	13: 58,013,848	T531P	probably damaging	Het
Mapt	C	A	11: 104,298,729	P191Q	possibly damaging	Het
Mpp5	G	T	12: 78,824,747	R367L	possibly damaging	Het
Myh9	T	C	15: 77,763,296	T1840A	probably benign	Het
Myof	A	T	19: 37,934,846	C1320S	probably damaging	Het
Myom3	G	T	4: 135,785,888	V626L	probably benign	Het
Ndor1	A	G	2: 25,248,909	L321P	probably benign	Het
Nhsl1	T	A	10: 18,524,001	M291K	probably damaging	Het
Nubp2	C	T	17: 24,884,502	V134I	probably benign	Het
Nuf2	T	C	1: 169,510,348	I287V	probably benign	Het
Olfr1066	A	T	2: 86,455,501	C257S	probably benign	Het
Olfr1290	A	G	2: 111,489,519	L213P	probably benign	Het
Olfr134	T	A	17: 38,175,530	W149R	probably damaging	Het
Olfr195	G	A	16: 59,148,939	V30M	probably damaging	Het
Olfr412	T	A	11: 74,365,263	M198K	probably benign	Het
Olfr544	A	C	7: 102,484,973	V49G	possibly damaging	Het
Olfr641	A	G	7: 104,040,513	N239S	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Ppp1r12a	A	G	10: 108,264,710	E863G	probably damaging	Het
Pskh1	C	T	8: 105,913,459	T257M	possibly damaging	Het
Rasgef1b	T	C	5: 99,229,329	I334V	probably benign	Het
Rnf180	T	A	13: 105,181,519	K462*	probably null	Het
Sin3a	A	G	9: 57,101,161	D455G	probably benign	Het
Slc15a4	A	G	5: 127,617,399		probably benign	Het
Slc2a13	T	C	15: 91,343,712	T426A	probably benign	Het
Smarca5	T	C	8: 80,736,729	K70R	probably benign	Het
Smg1	A	G	7: 118,208,080	V182A	unknown	Het
Stim1	G	A	7: 102,415,385	V221I	possibly damaging	Het
Tbx18	T	C	9: 87,727,379	D201G	probably damaging	Het
Tcf25	A	G	8: 123,401,092	E630G	probably benign	Het
Tm7sf3	T	C	6: 146,621,974	N135S	possibly damaging	Het
Tmem28	C	T	X: 99,845,491	R321W	probably damaging	Het
Togaram1	A	G	12: 64,967,655	N560S	probably damaging	Het
Unc13d	A	G	11: 116,075,703		probably null	Het
Zfp445	A	C	9: 122,852,516	S787A	probably benign	Het
Zfp949	T	C	9: 88,567,207	W22R	probably damaging	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
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
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

2022-04-18