Mutagenetix > Incidental Mutation

Incidental Mutation 'R0207:Apcdd1'

33435

Institutional Source

Beutler Lab

Gene Symbol

Apcdd1

Ensembl Gene

ENSMUSG00000071847

Gene Name

adenomatosis polyposis coli down-regulated 1

Synonyms

Drapc1, EIG180

MMRRC Submission

038460-MU

Accession Numbers

Essential gene?

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

Stock #

R0207 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

63055398-63086886 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63083150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 327 (Y327H)

Ref Sequence

ENSEMBL: ENSMUSP00000125868 (fasta)

Gene Model

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

AlphaFold

Q3U128

Predicted Effect

probably benign
Transcript: ENSMUST00000096554
AA Change: Y327H

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000094302
Gene: ENSMUSG00000071847
AA Change: Y327H

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
AA Change: Y327H

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125868
Gene: ENSMUSG00000071847
AA Change: Y327H

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

0.0774

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.5%

Validation Efficiency

95% (76/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,086,039 (GRCm39)	F488S	probably damaging	Het
Acap3	C	T	4: 155,983,881 (GRCm39)	R116W	probably damaging	Het
Adamts10	C	A	17: 33,764,364 (GRCm39)	P663T	possibly damaging	Het
Akap12	G	A	10: 4,303,333 (GRCm39)	G48S	probably damaging	Het
Ankrd7	T	A	6: 18,870,030 (GRCm39)	M261K	probably benign	Het
Ankzf1	C	A	1: 75,174,948 (GRCm39)	D599E	possibly damaging	Het
Aox1	T	C	1: 58,144,173 (GRCm39)	I1278T	possibly damaging	Het
Asxl3	T	A	18: 22,544,553 (GRCm39)		probably benign	Het
Birc6	C	A	17: 74,969,827 (GRCm39)		probably benign	Het
Btaf1	T	A	19: 36,987,048 (GRCm39)	L1714*	probably null	Het
Cacng6	T	A	7: 3,473,520 (GRCm39)		probably benign	Het
Cdc20b	A	G	13: 113,215,146 (GRCm39)	D238G	probably damaging	Het
Celf5	T	A	10: 81,306,532 (GRCm39)	R113W	probably null	Het
Cfap251	T	C	5: 123,421,510 (GRCm39)	V182A	probably damaging	Het
Cfap70	C	A	14: 20,462,415 (GRCm39)	E659D	probably damaging	Het
Clspn	T	A	4: 126,484,391 (GRCm39)	M1183K	possibly damaging	Het
Dpy19l1	G	A	9: 24,365,187 (GRCm39)	R275C	probably damaging	Het
Dst	C	T	1: 34,226,016 (GRCm39)	S1721L	probably benign	Het
Faap100	T	C	11: 120,265,191 (GRCm39)	T562A	probably damaging	Het
Fam168b	T	C	1: 34,858,769 (GRCm39)	M133V	probably damaging	Het
Farp2	T	C	1: 93,496,809 (GRCm39)	I172T	probably damaging	Het
Fer	T	G	17: 64,203,273 (GRCm39)	S68A	probably damaging	Het
Fmo5	A	G	3: 97,552,997 (GRCm39)	E315G	probably damaging	Het
Gpr89	A	T	3: 96,778,796 (GRCm39)	F426I	probably damaging	Het
Hinfp	T	C	9: 44,207,624 (GRCm39)	I461V	possibly damaging	Het
Hsd11b1	A	T	1: 192,922,556 (GRCm39)	V167D	probably damaging	Het
Htt	A	G	5: 35,054,252 (GRCm39)	K2574E	probably benign	Het
I830077J02Rik	A	G	3: 105,833,821 (GRCm39)	S112P	probably benign	Het
Igf2bp3	T	A	6: 49,082,551 (GRCm39)	M344L	probably benign	Het
Itch	A	T	2: 155,044,177 (GRCm39)	Q494L	probably benign	Het
Itga9	T	C	9: 118,598,321 (GRCm39)		probably benign	Het
Jaml	T	A	9: 45,005,065 (GRCm39)	D152E	probably benign	Het
Kif22	A	C	7: 126,641,572 (GRCm39)	M1R	probably null	Het
Kifap3	T	C	1: 163,710,955 (GRCm39)	Y663H	probably benign	Het
Letm2	T	A	8: 26,068,786 (GRCm39)	N472I	probably damaging	Het
Mthfr	T	G	4: 148,136,681 (GRCm39)	V446G	probably damaging	Het
Myh11	T	C	16: 14,029,124 (GRCm39)	E1206G	possibly damaging	Het
Myo6	G	A	9: 80,195,338 (GRCm39)	V903I	probably damaging	Het
Myo9b	C	T	8: 71,807,869 (GRCm39)		probably benign	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Nsd3	A	G	8: 26,173,273 (GRCm39)	N859S	probably benign	Het
Nucb2	C	A	7: 116,135,245 (GRCm39)	A384E	probably damaging	Het
Ogdhl	C	A	14: 32,063,994 (GRCm39)		probably null	Het
Or10al3	C	A	17: 38,011,949 (GRCm39)	C129*	probably null	Het
Or1e22	A	T	11: 73,377,401 (GRCm39)	L83Q	probably benign	Het
Or1i2	T	C	10: 78,447,705 (GRCm39)	T257A	probably benign	Het
Or4a74	G	A	2: 89,440,207 (GRCm39)	L80F	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Parp10	C	T	15: 76,126,833 (GRCm39)	S145N	probably benign	Het
Pigh	A	G	12: 79,130,483 (GRCm39)		probably benign	Het
Pigo	A	G	4: 43,023,824 (GRCm39)		probably benign	Het
Pkp4	T	A	2: 59,135,832 (GRCm39)	V199D	possibly damaging	Het
Polr1e	C	A	4: 45,025,143 (GRCm39)		probably null	Het
Ppfia3	C	A	7: 44,997,958 (GRCm39)	R723L	probably damaging	Het
Prex1	C	A	2: 166,427,818 (GRCm39)	A945S	possibly damaging	Het
Prrt3	A	T	6: 113,472,801 (GRCm39)	V457E	probably damaging	Het
Rab39	A	G	9: 53,617,271 (GRCm39)	F49L	possibly damaging	Het
Rrs1	C	A	1: 9,615,987 (GRCm39)		probably null	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Serpinb3c	T	C	1: 107,204,722 (GRCm39)	D8G	probably benign	Het
Slc17a6	A	G	7: 51,295,928 (GRCm39)		probably benign	Het
Slc24a4	T	A	12: 102,195,210 (GRCm39)		probably null	Het
Smc1b	C	T	15: 85,007,960 (GRCm39)	M272I	probably benign	Het
Smc6	T	C	12: 11,333,179 (GRCm39)		probably benign	Het
Tcf20	T	C	15: 82,739,286 (GRCm39)	T722A	probably benign	Het
Tesmin	A	T	19: 3,454,088 (GRCm39)	M141L	probably benign	Het
Tmprss5	T	A	9: 49,024,460 (GRCm39)	H274Q	possibly damaging	Het
Tns1	C	T	1: 73,976,477 (GRCm39)		probably null	Het
Tpr	T	C	1: 150,293,178 (GRCm39)	S868P	possibly damaging	Het
Trank1	C	T	9: 111,195,321 (GRCm39)	T1115I	probably damaging	Het
Trmt44	A	T	5: 35,730,261 (GRCm39)	I203K	possibly damaging	Het
Ulk2	A	T	11: 61,668,611 (GRCm39)	V1037E	probably benign	Het
Usp43	A	G	11: 67,767,325 (GRCm39)	Y682H	probably damaging	Het
Vipr2	A	T	12: 116,106,502 (GRCm39)	Q366L	probably damaging	Het
Vmn1r185	C	A	7: 26,311,014 (GRCm39)	V164L	possibly damaging	Het
Vmn2r120	C	T	17: 57,832,052 (GRCm39)	V246I	probably benign	Het
Wiz	C	T	17: 32,576,007 (GRCm39)	G790R	probably damaging	Het
Wnk1	A	T	6: 119,929,694 (GRCm39)	S1016R	probably damaging	Het
Zc3hav1	A	G	6: 38,288,109 (GRCm39)	L909S	probably benign	Het
Zfp236	T	A	18: 82,658,352 (GRCm39)	I637F	probably damaging	Het
Zfp788	G	A	7: 41,299,020 (GRCm39)	G532D	probably damaging	Het
Zranb1	T	C	7: 132,552,114 (GRCm39)	I255T	probably damaging	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
R0363:Apcdd1	UTSW	18	63,070,168 (GRCm39)	missense	possibly damaging	0.46
R0540:Apcdd1	UTSW	18	63,084,967 (GRCm39)	missense	possibly damaging	0.82
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'- TGCCGCATCATTTTCCGGTCAG -3'
(R):5'- GCAGACATGGCTCTCACTTCATCC -3'

Sequencing Primer
(F):5'- GCATCATTTTCCGGTCAGATGAAC -3'
(R):5'- GCAGCAAAGATACCCTTTCTCTTAG -3'

Posted On

2013-05-09