Mutagenetix > Incidental Mutations

Incidental Mutation 'R1178:Apcdd1'

100191

Institutional Source

Beutler Lab

Gene Symbol

Apcdd1

Ensembl Gene

ENSMUSG00000071847

Gene Name

adenomatosis polyposis coli down-regulated 1

Synonyms

Drapc1, EIG180

MMRRC Submission

039250-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R1178 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62922327-62953195 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62937097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 145 (Y145F)

Ref Sequence

ENSEMBL: ENSMUSP00000125868 (fasta)

Gene Model

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

AlphaFold

Q3U128

Predicted Effect

probably damaging
Transcript: ENSMUST00000096554
AA Change: Y145F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094302
Gene: ENSMUSG00000071847
AA Change: Y145F

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 damaging
Transcript: ENSMUST00000163716
AA Change: Y145F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125868
Gene: ENSMUSG00000071847
AA Change: Y145F

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

0.3554

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

98% (51/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	T	13: 81,440,037		probably benign	Het
Brinp1	C	T	4: 68,762,553	G580E	probably damaging	Het
Cep128	G	A	12: 91,260,155	T227M	probably damaging	Het
Cxcr2	A	T	1: 74,158,368	D7V	probably benign	Het
Dync2h1	C	T	9: 7,101,193		probably benign	Het
Eps8	T	C	6: 137,522,854	Q209R	possibly damaging	Het
Gabrg3	C	T	7: 56,735,091	V241I	probably benign	Het
Gfpt2	T	C	11: 49,823,309	S298P	probably benign	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm6797	T	A	X: 8,641,765		noncoding transcript	Het
Gp1ba	C	T	11: 70,641,427	P673L	probably damaging	Het
Heatr5b	A	G	17: 78,813,269	L742P	probably damaging	Het
Hgd	A	G	16: 37,615,394	I115V	possibly damaging	Het
Hmgcll1	A	T	9: 76,130,331	D169V	probably damaging	Het
Ifi202b	A	T	1: 173,972,222	I231K	probably benign	Het
Itpripl1	A	G	2: 127,141,899	I101T	probably benign	Het
Kcnj9	A	G	1: 172,322,963	V361A	probably benign	Het
Map4k5	G	A	12: 69,816,378	T567M	probably damaging	Het
Ncapd3	A	G	9: 27,041,421	D82G	probably benign	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr1155	G	A	2: 87,943,146	L161F	probably benign	Het
Olfr150	A	G	9: 39,737,346	Y177C	probably damaging	Het
Olfr926	A	G	9: 38,877,755	E193G	probably damaging	Het
Pfn2	C	T	3: 57,845,345	V3I	probably benign	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Pkhd1	C	T	1: 20,585,157		probably null	Het
Plekha2	A	C	8: 25,059,202	S189A	probably benign	Het
Prune2	T	C	19: 17,123,105	V1991A	probably benign	Het
Psg17	T	C	7: 18,814,455	T464A	probably benign	Het
Rab8b	A	G	9: 66,852,967	M125T	possibly damaging	Het
Rbl1	T	A	2: 157,147,655	M1015L	possibly damaging	Het
Ryr3	T	A	2: 112,964,380	Q149L	probably benign	Het
Scn2a	C	A	2: 65,686,779		probably benign	Het
Sec61g	A	C	11: 16,504,722		probably benign	Het
Smcr8	G	A	11: 60,779,532	R502H	probably damaging	Het
Spag16	G	A	1: 69,923,658		probably benign	Het
Spink13	A	G	18: 62,608,170		probably benign	Het
Stk25	T	C	1: 93,623,389		probably benign	Het
Syngap1	A	G	17: 26,957,805	N314D	probably damaging	Het
Tek	T	C	4: 94,804,287	C160R	probably damaging	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tll2	T	G	19: 41,092,847	D712A	probably damaging	Het
Tmprss13	A	T	9: 45,328,647	R84S	unknown	Het
Ttn	A	T	2: 76,969,703	I387N	probably damaging	Het
Ubr1	T	A	2: 120,926,029	K706*	probably null	Het
Upk2	A	T	9: 44,454,173	S33T	probably benign	Het
Usp47	T	G	7: 112,109,998	M1317R	possibly damaging	Het
Wdr19	T	C	5: 65,223,865	Y411H	probably damaging	Het
Zfp143	C	T	7: 110,075,721		probably benign	Het
Zfp473	T	C	7: 44,734,594	D105G	probably benign	Het
Zfp474	C	T	18: 52,638,742	Q156*	probably null	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
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
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

Posted On

2014-01-15