Mutagenetix > Incidental Mutation

Incidental Mutation 'R0540:Apcdd1'

49882

Institutional Source

Beutler Lab

Gene Symbol

Apcdd1

Ensembl Gene

ENSMUSG00000071847

Gene Name

adenomatosis polyposis coli down-regulated 1

Synonyms

Drapc1, EIG180

MMRRC Submission

038732-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R0540 (G1)

Quality Score

176

Status

Not validated

Chromosome

Chromosomal Location

63055398-63086886 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63084967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 388 (N388S)

Ref Sequence

ENSEMBL: ENSMUSP00000125868 (fasta)

Gene Model

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

AlphaFold

Q3U128

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096554
AA Change: N388S

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000094302
Gene: ENSMUSG00000071847
AA Change: N388S

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: N388S

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125868
Gene: ENSMUSG00000071847
AA Change: N388S

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: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.7%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,926,627 (GRCm39)	T199A	possibly damaging	Het
Als2cl	C	A	9: 110,724,852 (GRCm39)	Y775*	probably null	Het
Ankhd1	G	T	18: 36,773,333 (GRCm39)	V59F	probably damaging	Het
Ano4	T	A	10: 88,859,806 (GRCm39)	I395F	probably benign	Het
Arl9	A	G	5: 77,155,118 (GRCm39)	Y83C	possibly damaging	Het
Armc2	T	A	10: 41,798,691 (GRCm39)	H706L	probably benign	Het
Arrb1	T	C	7: 99,237,403 (GRCm39)		probably null	Het
Atxn1	G	A	13: 45,711,006 (GRCm39)	S642L	probably damaging	Het
Bmp8a	A	G	4: 123,209,723 (GRCm39)	Y322H	probably damaging	Het
Btbd3	C	T	2: 138,125,736 (GRCm39)	R307W	possibly damaging	Het
C1galt1	T	C	6: 7,871,193 (GRCm39)	I343T	probably benign	Het
Capn2	A	T	1: 182,319,749 (GRCm39)	Y146*	probably null	Het
Ccdc42	C	T	11: 68,488,536 (GRCm39)	Q312*	probably null	Het
Cd209e	T	C	8: 3,901,265 (GRCm39)	K130E	probably benign	Het
Chd3	T	C	11: 69,235,184 (GRCm39)	D2054G	probably damaging	Het
Chrna1	T	C	2: 73,401,815 (GRCm39)	N161S	probably damaging	Het
Clp1	C	T	2: 84,555,935 (GRCm39)	A182T	possibly damaging	Het
Cpsf7	G	T	19: 10,510,682 (GRCm39)	E135*	probably null	Het
Csf2rb2	T	C	15: 78,172,108 (GRCm39)	Y325C	probably benign	Het
Cspg5	T	C	9: 110,076,460 (GRCm39)		probably null	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cyp2b13	G	A	7: 25,781,136 (GRCm39)	V183I	probably benign	Het
D430041D05Rik	C	T	2: 104,063,790 (GRCm39)	R1354H	probably damaging	Het
Ddx24	A	G	12: 103,385,326 (GRCm39)	Y426H	possibly damaging	Het
Dexi	G	T	16: 10,360,426 (GRCm39)	Y43*	probably null	Het
Dlg1	G	A	16: 31,656,992 (GRCm39)	V596I	possibly damaging	Het
Dnah11	A	C	12: 118,046,246 (GRCm39)	W1731G	probably damaging	Het
Dnhd1	T	A	7: 105,369,995 (GRCm39)	N4473K	probably benign	Het
Dync2h1	A	C	9: 7,051,480 (GRCm39)	S3152A	probably benign	Het
Edn3	C	A	2: 174,602,767 (GRCm39)	P3Q	probably damaging	Het
Eif2a	G	A	3: 58,463,073 (GRCm39)		probably null	Het
Emb	G	A	13: 117,369,286 (GRCm39)	V56I	possibly damaging	Het
Enpp4	A	T	17: 44,410,386 (GRCm39)	C397S	probably damaging	Het
Exo5	A	G	4: 120,779,178 (GRCm39)	V229A	probably damaging	Het
Fga	G	A	3: 82,935,869 (GRCm39)	G32E	probably damaging	Het
Fkbpl	T	C	17: 34,864,333 (GRCm39)	F34L	probably benign	Het
Fsd2	T	A	7: 81,194,765 (GRCm39)	D466V	probably damaging	Het
Gcn1	T	C	5: 115,727,015 (GRCm39)	V624A	probably benign	Het
Git2	A	G	5: 114,886,335 (GRCm39)	F336L	probably damaging	Het
Greb1	T	A	12: 16,732,194 (GRCm39)	Y1589F	probably damaging	Het
H2-K2	G	T	17: 34,218,474 (GRCm39)	D127E	probably damaging	Het
Ints8	A	G	4: 11,252,926 (GRCm39)	V52A	possibly damaging	Het
Kifc1	G	A	17: 34,105,621 (GRCm39)	T62I	probably damaging	Het
Klhl6	C	A	16: 19,775,764 (GRCm39)	D265Y	possibly damaging	Het
Kmt5a	T	A	5: 124,589,373 (GRCm39)	N190K	probably damaging	Het
Lce6a	A	T	3: 92,527,635 (GRCm39)	H57Q	probably benign	Het
Lipo3	A	T	19: 33,536,967 (GRCm39)	I251K	possibly damaging	Het
Lnpep	A	T	17: 17,758,816 (GRCm39)	F843I	probably damaging	Het
Lrrc45	C	T	11: 120,605,988 (GRCm39)	R99*	probably null	Het
Lrrtm1	C	A	6: 77,221,611 (GRCm39)	A356E	probably damaging	Het
Map3k1	A	C	13: 111,900,044 (GRCm39)	H493Q	probably benign	Het
Mcm4	A	T	16: 15,449,979 (GRCm39)		probably null	Het
Mllt3	G	A	4: 87,759,281 (GRCm39)	P256S	possibly damaging	Het
Mrtfb	A	G	16: 13,199,465 (GRCm39)	E106G	probably damaging	Het
Myo7a	T	A	7: 97,721,153 (GRCm39)	T1271S	probably damaging	Het
Ncan	C	A	8: 70,567,809 (GRCm39)	R101L	possibly damaging	Het
Ndufaf7	A	G	17: 79,253,885 (GRCm39)	D361G	probably benign	Het
Neurod6	C	T	6: 55,656,572 (GRCm39)	A22T	probably benign	Het
Nexn	T	A	3: 151,953,879 (GRCm39)	K192*	probably null	Het
Nipsnap2	A	T	5: 129,831,909 (GRCm39)	Y234F	probably damaging	Het
Nlrp10	T	C	7: 108,523,492 (GRCm39)	K663E	probably benign	Het
Nprl2	A	T	9: 107,422,497 (GRCm39)	Y329F	possibly damaging	Het
Nr2f2	C	A	7: 70,004,460 (GRCm39)	R264L	probably damaging	Het
Nsun7	A	T	5: 66,440,977 (GRCm39)	K366I	probably damaging	Het
Nup35	T	A	2: 80,472,984 (GRCm39)	M19K	probably benign	Het
Or10a4	T	A	7: 106,696,933 (GRCm39)	I87K	probably benign	Het
Or11i1	A	T	3: 106,729,829 (GRCm39)	F15L	probably damaging	Het
Or1ad6	C	A	11: 50,860,670 (GRCm39)	A275D	possibly damaging	Het
Or2v1	C	G	11: 49,025,549 (GRCm39)	H177D	probably damaging	Het
Or2w2	T	A	13: 21,757,948 (GRCm39)	Y226F	probably benign	Het
Or5af1	T	A	11: 58,722,798 (GRCm39)	S273T	probably damaging	Het
Or5p51	A	G	7: 107,444,776 (GRCm39)	S55P	probably damaging	Het
Patl2	T	C	2: 121,957,150 (GRCm39)	Y128C	probably benign	Het
Pcdhac2	A	G	18: 37,278,942 (GRCm39)	I641V	probably benign	Het
Peli3	T	C	19: 4,991,939 (GRCm39)	M1V	probably null	Het
Pex16	T	A	2: 92,205,982 (GRCm39)	L25*	probably null	Het
Plekhn1	C	A	4: 156,307,204 (GRCm39)	A449S	possibly damaging	Het
Pot1b	A	T	17: 55,972,765 (GRCm39)	I469N	probably damaging	Het
Prdx6	A	C	1: 161,078,673 (GRCm39)	L5W	probably damaging	Het
Prrc1	G	A	18: 57,507,622 (GRCm39)	V259I	possibly damaging	Het
Prss38	T	C	11: 59,266,369 (GRCm39)	S30G	possibly damaging	Het
Rgs6	C	A	12: 83,106,578 (GRCm39)	Y151*	probably null	Het
Ripk4	A	C	16: 97,545,375 (GRCm39)	L361R	probably damaging	Het
Serpinb3d	C	T	1: 107,006,962 (GRCm39)	D249N	probably benign	Het
Skint10	A	T	4: 112,630,224 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,731,713 (GRCm39)	N349K	probably benign	Het
Sohlh2	C	A	3: 55,115,104 (GRCm39)	S363Y	probably damaging	Het
Srsf10	A	G	4: 135,591,179 (GRCm39)	T210A	possibly damaging	Het
Synpo2l	A	T	14: 20,710,748 (GRCm39)	M624K	probably damaging	Het
Thsd7a	T	A	6: 12,331,541 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,938,692 (GRCm39)	V49E	probably damaging	Het
Tnik	A	C	3: 28,704,308 (GRCm39)	K989T	probably damaging	Het
Tnxb	T	A	17: 34,890,892 (GRCm39)	Y412N	probably damaging	Het
Trmt44	A	G	5: 35,726,103 (GRCm39)		probably null	Het
Tsc2	A	T	17: 24,840,686 (GRCm39)	V391E	probably damaging	Het
Ttll5	T	C	12: 85,980,450 (GRCm39)		probably null	Het
Usp28	A	G	9: 48,935,360 (GRCm39)	I104V	probably benign	Het
Vmn1r64	A	G	7: 5,887,096 (GRCm39)	L149S	probably damaging	Het
Yme1l1	T	A	2: 23,082,527 (GRCm39)	M506K	possibly damaging	Het
Zfp280d	T	A	9: 72,215,247 (GRCm39)	F98I	probably damaging	Het
Zfp62	C	A	11: 49,106,227 (GRCm39)	T106K	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
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
R5622:Apcdd1	UTSW	18	63,069,973 (GRCm39)	splice site	probably null
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'- TGAAACAGTGCCTCTAGCATTTGCC -3'
(R):5'- TCCAACAACTCTTCAGCTCTTGGTG -3'

Sequencing Primer
(F):5'- GCCTCTAGCATTTGCCAGAAG -3'
(R):5'- ACTGGACCAAGGGCATCTG -3'

Posted On

2013-06-12