Mutagenetix > Incidental Mutation

Incidental Mutation 'R8025:Apcdd1'

617678

Institutional Source

Beutler Lab

Gene Symbol

Apcdd1

Ensembl Gene

ENSMUSG00000071847

Gene Name

adenomatosis polyposis coli down-regulated 1

Synonyms

Drapc1, EIG180

MMRRC Submission

067464-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R8025 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62922327-62953195 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62936908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 82 (C82F)

Ref Sequence

ENSEMBL: ENSMUSP00000094302 (fasta)

Gene Model

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

AlphaFold

Q3U128

Predicted Effect

probably damaging
Transcript: ENSMUST00000096554
AA Change: C82F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000094302
Gene: ENSMUSG00000071847
AA Change: C82F

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: C82F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125868
Gene: ENSMUSG00000071847
AA Change: C82F

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: 99.6%
20x: 98.8%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	T	G	3: 79,629,328	L51R	probably damaging	Het
Actl7b	T	C	4: 56,741,137	T74A	probably damaging	Het
Aip	C	A	19: 4,115,346	A207S	probably benign	Het
AL732309.1	A	G	2: 25,246,319		probably benign	Het
Arhgap42	T	G	9: 9,005,822	I736L	probably benign	Het
Armc4	A	T	18: 7,127,224	N996K	probably benign	Het
Baz1a	A	T	12: 54,909,136	I1056N	probably benign	Het
Bzw2	T	C	12: 36,107,518	E316G	probably damaging	Het
Carns1	A	T	19: 4,166,506	I559N	probably damaging	Het
Ccdc144b	C	A	3: 36,018,987	R382L	probably damaging	Het
Chrnb2	A	T	3: 89,761,342	V222E	probably damaging	Het
Cngb3	A	T	4: 19,280,960	N10Y	possibly damaging	Het
Dennd1b	A	G	1: 139,110,420	K267E		Het
Dhx32	A	G	7: 133,721,371	Y705H	probably damaging	Het
Dnah7c	G	A	1: 46,457,296	V114I	probably benign	Het
Dnah8	T	A	17: 30,741,337	C2229*	probably null	Het
Gm14401	T	C	2: 177,086,456	F112L	probably damaging	Het
Gm9573	GTGCTGGATTCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAGCCACTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA	GTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA	17: 35,620,987		probably benign	Het
Habp4	G	A	13: 64,174,831	R238H	probably benign	Het
Herpud1	A	G	8: 94,392,521	Y301C	probably damaging	Het
Itih5	G	A	2: 10,241,022	A641T	probably benign	Het
Kcns3	A	T	12: 11,091,845	N284K	probably damaging	Het
Mcrs1	G	A	15: 99,246,933	Q267*	probably null	Het
Midn	G	A	10: 80,155,292	A379T	probably benign	Het
Olfr1028	A	T	2: 85,951,512	I150F	probably benign	Het
Olfr462	A	T	11: 87,888,951		probably null	Het
Olfr561	T	C	7: 102,775,256	V244A	probably benign	Het
Olfr716	A	G	7: 107,147,723	M136V	possibly damaging	Het
Olfr869	T	C	9: 20,137,632	V172A	probably benign	Het
Parpbp	T	C	10: 88,093,108	D490G	probably benign	Het
Pcbp2	T	A	15: 102,488,276	S262R	probably benign	Het
Pcdhgc5	T	C	18: 37,820,939	I422T	possibly damaging	Het
Pcsk5	T	A	19: 17,561,051		probably benign	Het
Plxna1	G	A	6: 89,331,272	R1278W	probably damaging	Het
Polr1c	A	G	17: 46,245,048	L162P	probably damaging	Het
Rasl2-9	A	G	7: 5,125,482	S150P	probably damaging	Het
Raver2	C	A	4: 101,102,965	S214*	probably null	Het
Rbpjl	C	A	2: 164,410,246		probably benign	Het
Rec114	T	G	9: 58,660,322	E127A	possibly damaging	Het
Recql5	C	A	11: 115,928,112	L209F	probably damaging	Het
Rgs11	T	C	17: 26,204,385		probably null	Het
Rgs3	C	A	4: 62,690,594	H366N	probably damaging	Het
Rnf148	C	T	6: 23,654,197	D267N	possibly damaging	Het
Scn1a	T	C	2: 66,318,213	N1007S	probably benign	Het
Sdcbp	A	G	4: 6,393,022	T220A	probably benign	Het
Sema5a	A	G	15: 32,548,782	N134S	probably benign	Het
Smg1	G	A	7: 118,206,989	Q210*	probably null	Het
Snx7	A	G	3: 117,832,877	V328A	probably benign	Het
Sult1c2	A	T	17: 53,831,809	S247T	probably benign	Het
Tceanc2	C	T	4: 107,139,800		probably null	Het
Tead3	T	C	17: 28,335,035	D141G	probably benign	Het
Tmem136	T	A	9: 43,111,553	T169S	probably benign	Het
Ube3b	T	C	5: 114,408,209	M692T	probably damaging	Het
Vmn1r188	T	C	13: 22,087,914	F13L	probably benign	Het
Vmn2r3	A	G	3: 64,275,450	V276A	possibly damaging	Het
Vmn2r57	A	G	7: 41,426,759	I443T	probably benign	Het
Vps33a	T	C	5: 123,558,675	N305S	possibly damaging	Het
Vps33b	A	T	7: 80,290,346		probably benign	Het
Wdr34	T	C	2: 30,048,718	Q51R	probably benign	Het
Wdr72	T	A	9: 74,143,499	M91K	probably benign	Het
Xylb	T	C	9: 119,381,503	F351L	probably damaging	Het
Zan	C	T	5: 137,406,352	D3883N	unknown	Het
Zfp82	T	A	7: 30,056,853	H268L	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
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
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'- TGCCTAGATTCATGGTCAGACTC -3'
(R):5'- TGTGGCAGATGACTTGGACG -3'

Sequencing Primer
(F):5'- AGACTCATGTGACCTTGTACACG -3'
(R):5'- AGATGACTTGGACGCCGTG -3'

Posted On

2020-01-23