Mutagenetix > Incidental Mutation

Incidental Mutation 'R8261:Apcdd1'

639961

Institutional Source

Beutler Lab

Gene Symbol

Apcdd1

Ensembl Gene

ENSMUSG00000071847

Gene Name

adenomatosis polyposis coli down-regulated 1

Synonyms

Drapc1, EIG180

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R8261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62922327-62953195 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62933903 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 29 (H29Q)

Ref Sequence

ENSEMBL: ENSMUSP00000094302 (fasta)

Gene Model

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

AlphaFold

Q3U128

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096554
AA Change: H29Q

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000094302
Gene: ENSMUSG00000071847
AA Change: H29Q

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: H29Q

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125868
Gene: ENSMUSG00000071847
AA Change: H29Q

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: 99.3%

Validation Efficiency

100% (76/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	A	19: 11,110,343	S75C	probably damaging	Het
4933412E24Rik	T	C	15: 60,016,576	E5G	probably benign	Het
5730559C18Rik	T	A	1: 136,225,477	N226Y	probably damaging	Het
Adam23	T	C	1: 63,528,798	V202A	noncoding transcript	Het
Adamtsl1	A	C	4: 86,276,883	E512D	probably damaging	Het
Ahnak	A	T	19: 9,005,453	D1367V	probably damaging	Het
Angpt4	A	T	2: 151,927,164	Q198L	probably benign	Het
Cdh16	T	A	8: 104,615,179	K755*	probably null	Het
Cdk6	T	G	5: 3,390,685	F80V	probably benign	Het
Chd1	T	C	17: 17,387,542	S451P	probably benign	Het
Chd6	A	G	2: 160,957,082	L2361P	probably damaging	Het
Chst8	A	G	7: 34,748,154	M13T	possibly damaging	Het
Cntnap2	T	C	6: 47,095,693	L1065P	probably damaging	Het
Dctn4	T	C	18: 60,526,271	V14A	possibly damaging	Het
Dicer1	A	T	12: 104,691,606	V1903D	probably damaging	Het
E2f2	A	G	4: 136,184,480		silent	Het
Eif4g3	T	A	4: 138,171,118	S902T	possibly damaging	Het
Emid1	G	T	11: 5,134,353	A152D	probably benign	Het
Fer1l6	T	A	15: 58,560,496	N297K	possibly damaging	Het
Fes	T	C	7: 80,383,154	D281G	probably null	Het
Frmpd2	T	C	14: 33,502,977	V133A	probably benign	Het
Fry	A	G	5: 150,445,907	Y2282C	probably damaging	Het
Gm10377	C	T	14: 42,794,707		probably null	Het
Gm1527	A	G	3: 28,920,600	T521A	probably damaging	Het
Gpr141	T	A	13: 19,751,843	H254L	probably benign	Het
Gpr160	A	G	3: 30,895,947	E56G	probably benign	Het
Grid2ip	T	G	5: 143,381,940		probably null	Het
Grin2a	A	G	16: 9,663,518	F473S	probably damaging	Het
Igkv1-131	T	C	6: 67,766,118	T94A	probably damaging	Het
Iqgap2	A	G	13: 95,635,570	L1367P	probably damaging	Het
Kdm5d	T	A	Y: 936,929	M856K	probably damaging	Het
Kirrel	T	C	3: 87,088,002		probably benign	Het
Lad1	T	C	1: 135,827,762	S259P	probably damaging	Het
Lalba	A	T	15: 98,482,111	F86Y	possibly damaging	Het
Lrfn5	G	A	12: 61,839,537	C37Y	probably damaging	Het
Man2c1	A	G	9: 57,139,658	T665A	probably benign	Het
Myh11	T	C	16: 14,224,003	I719V		Het
Nbl1	A	T	4: 139,085,521	C34S	probably damaging	Het
Ncapg	T	A	5: 45,687,388	I575N	possibly damaging	Het
Nlgn1	T	C	3: 25,433,652	T840A	possibly damaging	Het
Nrd1	T	C	4: 109,016,679	S231P	possibly damaging	Het
Nrg2	T	C	18: 36,032,375	K395E	probably benign	Het
Nrip1	A	T	16: 76,292,061	N869K	possibly damaging	Het
Olfr1259	A	G	2: 89,943,372	F248L	probably benign	Het
Olfr237-ps1	T	A	6: 43,153,308	M1K	probably null	Het
Olfr285	A	T	15: 98,312,665	M295K	probably benign	Het
Otub2	G	T	12: 103,402,902		probably null	Het
Paxbp1	T	C	16: 91,037,415	D161G	probably benign	Het
Pcnx3	C	T	19: 5,665,384	G1946E	probably damaging	Het
Per2	T	A	1: 91,433,448	Q495L	possibly damaging	Het
Plxna2	T	A	1: 194,749,416	V571E	probably damaging	Het
Prr7	C	A	13: 55,472,922	P248T	possibly damaging	Het
Ptprr	A	T	10: 116,237,264	T464S	possibly damaging	Het
Rapgef2	A	G	3: 79,086,018	V721A	probably benign	Het
Rfx1	A	T	8: 84,092,850	Y625F	probably benign	Het
Rps6kb2	G	T	19: 4,161,196	A110D	possibly damaging	Het
Setdb2	A	T	14: 59,413,692		probably benign	Het
Slc25a31	T	C	3: 40,724,920	I272T	probably damaging	Het
Smpd1	T	C	7: 105,555,313	V133A	probably benign	Het
Sorl1	T	C	9: 42,014,481	D1185G	probably damaging	Het
Spag6	T	A	2: 18,745,490	L449H	probably benign	Het
Sptb	C	A	12: 76,621,262	R687L	probably benign	Het
Sptbn5	A	T	2: 120,047,135	V1012E	noncoding transcript	Het
Tmem192	A	G	8: 64,964,320	I188V	probably benign	Het
Tmem253	G	A	14: 52,019,251	V194M	probably benign	Het
Tph1	A	G	7: 46,653,749		silent	Het
Trak1	A	G	9: 121,451,667	E374G	probably damaging	Het
Trpv1	A	T	11: 73,254,767		probably null	Het
Trub2	T	C	2: 29,777,713	H305R	probably benign	Het
Ttn	A	G	2: 76,917,424	V4427A	probably benign	Het
Vasn	A	G	16: 4,648,296	T36A	probably damaging	Het
Vmn1r8	A	T	6: 57,036,173	I70F	probably benign	Het
Vps13c	A	T	9: 67,954,980	I2960L	probably damaging	Het
Zdhhc4	C	A	5: 143,321,833	M144I	probably benign	Het
Zfp273	T	A	13: 67,825,951	N399K	probably benign	Het
Zfp976	T	A	7: 42,612,701	T572S	unknown	Het
Zmym4	A	G	4: 126,904,567	C756R	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
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

Predicted Primers

PCR Primer
(F):5'- GTGATCTTCAAGAGTGTCCCC -3'
(R):5'- TCCCGTCTCAAATGCAGCTC -3'

Sequencing Primer
(F):5'- TCAAGAGTGTCCCCGACTC -3'
(R):5'- AAATGCAGCTCTTACCCTGTGG -3'

Posted On

2020-07-28