Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4976:Apc'

511975

Institutional Source

Beutler Lab

Gene Symbol

Apc

Ensembl Gene

ENSMUSG00000005871

Gene Name

adenomatosis polyposis coli

Synonyms

CC1, Min

Accession Numbers

Ncbi RefSeq: NM_007462.3; MGI:88039

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

FR4976 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

34220924-34322189 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

AAGC to AAGCCAATATAGC at 34282004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066133] [ENSMUST00000079362] [ENSMUST00000115781] [ENSMUST00000171187]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000066133

SMART Domains

Protein: ENSMUSP00000064214
Gene: ENSMUSG00000005871

Domain	Start	End	E-Value	Type
PDB:1DEB\|B	2	55	8e-29	PDB
low complexity region	92	109	N/A	INTRINSIC
Pfam:Suppressor_APC	124	206	2.3e-32	PFAM
low complexity region	211	222	N/A	INTRINSIC
low complexity region	234	247	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079362

SMART Domains

Protein: ENSMUSP00000078337
Gene: ENSMUSG00000005871

Domain	Start	End	E-Value	Type
Pfam:APC_N_CC	4	55	6e-32	PFAM
low complexity region	92	109	N/A	INTRINSIC
Pfam:Suppressor_APC	125	205	2e-24	PFAM
low complexity region	211	222	N/A	INTRINSIC
low complexity region	234	247	N/A	INTRINSIC
ARM	338	390	6.14e-5	SMART
ARM	457	508	1.62e-4	SMART
ARM	510	551	8.56e-4	SMART
ARM	554	595	4.45e-2	SMART
ARM	597	642	5.76e1	SMART
ARM	647	687	1.29e-7	SMART
Pfam:Arm_APC_u3	730	1017	5e-170	PFAM
Pfam:APC_15aa	1018	1032	1.1e-8	PFAM
Pfam:APC_u5	1034	1133	7.6e-55	PFAM
Pfam:APC_15aa	1154	1168	1.6e-8	PFAM
Pfam:APC_15aa	1171	1185	1.9e-9	PFAM
low complexity region	1187	1204	N/A	INTRINSIC
Pfam:APC_crr	1255	1279	1.5e-15	PFAM
Pfam:APC_u9	1280	1367	1.9e-34	PFAM
Pfam:APC_crr	1370	1393	2.2e-10	PFAM
low complexity region	1431	1449	N/A	INTRINSIC
Pfam:APC_crr	1485	1509	2.1e-9	PFAM
low complexity region	1532	1548	N/A	INTRINSIC
Pfam:SAMP	1568	1587	2.7e-11	PFAM
Pfam:APC_crr	1635	1659	1.9e-15	PFAM
Pfam:APC_u13	1660	1716	1.3e-31	PFAM
Pfam:SAMP	1717	1736	3.2e-12	PFAM
Pfam:APC_u14	1737	1837	1e-46	PFAM
Pfam:APC_crr	1839	1864	6.8e-15	PFAM
Pfam:APC_u15	1865	1945	1.8e-40	PFAM
Pfam:APC_crr	1947	1971	1.6e-14	PFAM
Pfam:APC_crr	2007	2030	1.8e-14	PFAM
Pfam:SAMP	2033	2052	1.6e-13	PFAM
low complexity region	2112	2146	N/A	INTRINSIC
Pfam:APC_basic	2223	2579	1.5e-110	PFAM
low complexity region	2626	2638	N/A	INTRINSIC
Pfam:EB1_binding	2670	2842	9.3e-89	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000115781

SMART Domains

Protein: ENSMUSP00000111447
Gene: ENSMUSG00000005871

Domain	Start	End	E-Value	Type
PDB:1DEB\|B	2	55	1e-27	PDB
low complexity region	92	109	N/A	INTRINSIC
Pfam:Suppressor_APC	124	206	1.5e-31	PFAM
low complexity region	211	222	N/A	INTRINSIC
ARM	304	356	6.14e-5	SMART
ARM	423	474	1.62e-4	SMART
ARM	476	517	8.56e-4	SMART
ARM	520	561	4.45e-2	SMART
ARM	563	608	5.76e1	SMART
ARM	613	653	1.29e-7	SMART
Pfam:Arm	655	695	1.7e-6	PFAM
low complexity region	797	810	N/A	INTRINSIC
low complexity region	880	892	N/A	INTRINSIC
low complexity region	923	935	N/A	INTRINSIC
Pfam:APC_15aa	984	999	3.7e-9	PFAM
Pfam:APC_15aa	1100	1115	8.4e-8	PFAM
Pfam:APC_15aa	1120	1135	9.9e-9	PFAM
Pfam:APC_15aa	1137	1152	1.2e-9	PFAM
low complexity region	1153	1170	N/A	INTRINSIC
Pfam:APC_crr	1220	1245	7.5e-15	PFAM
low complexity region	1320	1331	N/A	INTRINSIC
Pfam:APC_crr	1334	1359	2.8e-11	PFAM
low complexity region	1397	1415	N/A	INTRINSIC
Pfam:APC_crr	1450	1475	2.2e-8	PFAM
low complexity region	1498	1514	N/A	INTRINSIC
Pfam:SAMP	1533	1553	8.4e-12	PFAM
Pfam:APC_crr	1600	1625	3.5e-13	PFAM
Pfam:SAMP	1682	1702	5e-12	PFAM
low complexity region	1732	1744	N/A	INTRINSIC
Pfam:APC_crr	1805	1830	3.1e-12	PFAM
low complexity region	1866	1877	N/A	INTRINSIC
Pfam:APC_crr	1912	1937	3.5e-13	PFAM
Pfam:APC_crr	1971	1996	7.1e-14	PFAM
Pfam:SAMP	1999	2018	4.6e-13	PFAM
low complexity region	2078	2112	N/A	INTRINSIC
Pfam:APC_basic	2189	2545	1.1e-131	PFAM
low complexity region	2592	2604	N/A	INTRINSIC
Pfam:EB1_binding	2636	2808	2.9e-90	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170023

Predicted Effect

probably benign
Transcript: ENSMUST00000171187

SMART Domains

Protein: ENSMUSP00000127131
Gene: ENSMUSG00000005871

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
low complexity region	23	52	N/A	INTRINSIC
low complexity region	102	119	N/A	INTRINSIC
Pfam:Suppressor_APC	134	216	5.2e-32	PFAM
ARM	320	372	6.14e-5	SMART
ARM	439	490	1.62e-4	SMART
ARM	492	533	8.56e-4	SMART
ARM	536	577	4.45e-2	SMART
ARM	579	624	5.76e1	SMART
ARM	629	669	1.29e-7	SMART
Pfam:Arm	671	711	6.3e-7	PFAM
low complexity region	813	826	N/A	INTRINSIC
low complexity region	896	908	N/A	INTRINSIC
low complexity region	939	951	N/A	INTRINSIC
Pfam:APC_15aa	1000	1015	1.4e-9	PFAM
Pfam:APC_15aa	1116	1131	3.1e-8	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 96.9%

Validation Efficiency

MGI Phenotype

Strain: 1856318; 2387050; 1857951; 1857957
Lethality: E8-E12
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. [provided by MGI curators]

Allele List at MGI

All alleles(88) : Targeted(25) Gene trapped(62) Chemically induced(1)

Other mutations in this stock

Total: 220 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	TTC	TTCATC	12: 110,668,447		probably benign	Het
1700001K19Rik	TTC	TTCGTC	12: 110,668,450		probably benign	Het
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	A	G	1: 37,625,102	S47P	probably damaging	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
4930402H24Rik	TCC	TCCCCC	2: 130,770,739		probably benign	Het
4930402H24Rik	TCC	TCCACC	2: 130,770,742		probably benign	Het
4930402H24Rik	C	CTCG	2: 130,770,753		probably benign	Het
Abt1	TTCTTGCT	TT	13: 23,423,711		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,425,229		probably benign	Het
Akap12	AAA	AAACAA	10: 4,353,837		probably benign	Het
Alg1	GCTCACTCAC	GCTCAC	16: 5,244,561		probably null	Homo
Alg9	G	GCGA	9: 50,775,431		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,012,292		probably benign	Het
Anapc2	TGGCGGTGGCGGCGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGGCGG	2: 25,272,532		probably benign	Het
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Atad3a	C	A	4: 155,753,939	R207L	probably damaging	Homo
BC051142	AGC	AGCGGC	17: 34,460,058		probably benign	Het
BC051142	AGC	AGCGGC	17: 34,460,061		probably benign	Het
Blm	TCCTCCTCCTCCTCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC	7: 80,512,907		probably benign	Het
Blm	ACCT	ACCTCCCT	7: 80,463,767		probably benign	Homo
Bmp5	GAGGAGT	G	9: 75,776,375		probably benign	Homo
Bpifa6	A	T	2: 153,986,376	Q134L	probably benign	Homo
Bpifa6	A	T	2: 153,986,398	R141S	probably benign	Homo
Btnl10	AGA	AGAGGA	11: 58,923,929		probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 84,638,717		probably benign	Het
Cacna1a	ACC	ACCTCC	8: 84,638,726		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGCGGCTGTGGCTG	19: 47,141,262		probably benign	Het
Catsper2	CAT	CATTAT	2: 121,397,782		probably benign	Het
Catsper2	ATCGTCGTCGTC	ATCGTCGTCGTCGTC	2: 121,397,795		probably benign	Het
Catsper2	C	CTTTTACTTTTTT	2: 121,397,542		probably benign	Homo
Catsper2	TGTC	TGTCGTC	2: 121,397,779		probably benign	Homo
Ccdc170	ACCGCC	ACCGCCGCC	10: 4,561,008		probably benign	Het
Ccdc170	ACC	ACCGCC	10: 4,561,023		probably benign	Het
Ccdc170	AC	ACCTC	10: 4,561,029		probably benign	Het
Ccnk	TTCCCAC	T	12: 108,202,507		probably benign	Het
Cdx1	GGGCTGC	GGGCTGCGGCTGC	18: 61,019,867		probably benign	Het
Cdx1	GCTGCT	GCTGCTTCTGCT	18: 61,019,869		probably benign	Het
Cep112	G	GCTCT	11: 108,425,352		probably benign	Het
Cep89	GACT	G	7: 35,409,641		probably benign	Het
Cfap46	CCTTCT	CCTTCTTCT	7: 139,638,930		probably benign	Homo
Chd4	GC	GCTCCCTC	6: 125,122,131		probably benign	Homo
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,669,520		probably benign	Het
Cnpy3	CCT	CCTACT	17: 46,736,747		probably null	Het
Cntnap1	A	ACCCCCC	11: 101,189,569		probably benign	Het
Cntnap1	CCCAGC	CCCAGCACCAGC	11: 101,189,572		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,189,585		probably benign	Het
Cntnap1	GCCCCA	GCCCCACCCCCA	11: 101,189,588		probably benign	Het
Col4a3	CGTTTTTTTTTTTTTTTT	C	1: 82,718,906		probably null	Het
Cpne1	AGA	AGAGAGA	2: 156,072,025		probably null	Homo
Ctsm	AGTG	AGTGGGTG	13: 61,537,836		probably null	Homo
Cttnbp2	GCTGCT	GCTGCTCCTGCT	6: 18,367,461		probably benign	Het
Cttnbp2	GCTGCT	GCTGCTTCTGCT	6: 18,367,467		probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,500,848		probably benign	Het
Cul9	TCC	TCCGCC	17: 46,500,850		probably benign	Het
Cul9	TCC	TCCCCC	17: 46,500,853		probably benign	Het
Cul9	TCC	TCCCCC	17: 46,500,856		probably benign	Het
Cybrd1	GAAT	G	2: 71,138,511		probably benign	Homo
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,689		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,692		probably benign	Het
Dbr1	AGG	AGGAGGCGG	9: 99,583,701		probably benign	Het
Dbr1	GG	GGAGGAAG	9: 99,583,702		probably benign	Het
Dcaf8	C	T	1: 172,172,856	H194Y	probably damaging	Homo
Dnajc19	AC	ACGC	3: 34,057,994		probably null	Het
Dthd1	GAC	GACTAC	5: 62,843,024		probably benign	Homo
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
Eif3a	A	ATTTTT	19: 60,775,291		probably benign	Homo
Ermn	CTT	CTTGTT	2: 58,048,080		probably benign	Het
Ermn	TC	TCTAC	2: 58,048,088		probably benign	Het
Fam45a	ACTC	ACTCCTC	19: 60,814,618		probably benign	Homo
Fam45a	T	TTCA	19: 60,814,622		probably benign	Homo
Fbxo38	TGCAGC	TGC	18: 62,515,347		probably benign	Het
Frem3	CT	CTTGT	8: 80,615,241		probably benign	Homo
Fsip2	TTTTT	TTTTTGTTTT	2: 82,984,362		probably benign	Het
Fsip2	TT	TTTTTCT	2: 82,984,365		probably benign	Het
Gabre	AGGCT	AGGCTGCGGCT	X: 72,270,418		probably benign	Homo
Gabre	T	TGAGGCC	X: 72,270,422		probably benign	Homo
Gm10800	A	AC	2: 98,667,033		probably null	Homo
Gm14393	T	G	2: 175,061,820	N98T	probably benign	Het
Gm16503	G	A	4: 147,541,253	G68E	unknown	Het
Gm28040	TG	TGGCACCTTTCGAG	1: 133,327,323		probably benign	Homo
Gm4340	AGC	AGCCGC	10: 104,196,079		probably benign	Het
Gm6309	C	T	5: 146,168,183	V307I	probably benign	Het
Gm7534	TG	TGCCG	4: 134,202,630		probably benign	Homo
Golga5	G	A	12: 102,475,660		probably null	Homo
Gpatch11	GAGGAA	GAGGAATAGGAA	17: 78,842,173		probably null	Het
Gpatch11	AGGAA	AGGAAGTGGAA	17: 78,842,180		probably benign	Het
Gpatch11	GAAGAG	GAAGAGCAAGAG	17: 78,842,170		probably benign	Het
Gpatch11	AAGAGG	AAGAGGCAGAGG	17: 78,842,171		probably benign	Het
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 78,842,172		probably benign	Het
H2-K1	GTTT	G	17: 33,997,042		probably benign	Homo
Hcn1	GCAGC	GCAGCGACAGC	13: 117,975,808		probably benign	Homo
Hoxa10	T	A	6: 52,234,186	Q250L	possibly damaging	Homo
Igf1r	TGGAGC	TGGAGCTGGAGAGGGAGC	7: 68,226,181		probably benign	Het
Igf1r	C	CTGGAGATGGAGA	7: 68,226,186		probably benign	Het
Il17rd	CGG	CGGTGG	14: 27,082,677		probably benign	Het
Il2	GG	GGGGCTTGAAGTAG	3: 37,125,829		probably benign	Het
Ipo9	TCC	TCCCCC	1: 135,386,281		probably benign	Het
Iqcc	T	TGTCAGCCTCCTTGTACCC	4: 129,616,676		probably benign	Het
Isg20l2	AAG	AAGTAG	3: 87,931,715		probably null	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Kmt2b	CCTCCT	CCTCCTACTCCT	7: 30,586,364		probably null	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,360		probably benign	Het
Kmt2b	CTCCTC	CTCCTCGTCCTC	7: 30,586,362		probably benign	Het
Kmt2b	TCCTCC	TCCTCCACCTCC	7: 30,586,366		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,373		probably benign	Het
Kmt2c	TGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	5: 25,315,763		probably benign	Homo
Krtap9-3	AC	ACAGGTGCCTC	11: 99,598,004		probably benign	Homo
Las1l	AGG	AGGGGG	X: 95,940,827		probably benign	Het
Las1l	GA	GAGAA	X: 95,940,832		probably benign	Het
Las1l	A	AGGC	X: 95,940,833		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCAGCCAC	3: 93,018,148		probably benign	Het
Leo1	GGTACCATGCAG	GG	9: 75,450,572		probably benign	Het
Lrit3	CATA	CATAAATA	3: 129,803,910		probably benign	Homo
Lrmp	CACATTG	CACATTGAGGACATTG	6: 145,173,785		probably benign	Homo
Mamld1	GCAACA	GCAACAACA	X: 71,118,812		probably benign	Het
Mamld1	GCA	GCAACA	X: 71,118,818		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,739,247		probably null	Homo
Mast4	TGG	TGGGGGCGG	13: 102,736,312		probably benign	Het
Med12l	GCA	GCACCA	3: 59,275,977		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,419,702		probably benign	Het
Morf4l2	T	C	X: 136,733,622	K286E	probably benign	Het
Msantd4	A	T	9: 4,384,937	I221F	possibly damaging	Homo
Mup21	TT	TTTTTATATACT	4: 62,149,350		probably benign	Het
Nacad	A	ACCAGGG	11: 6,599,749		probably benign	Het
Nacad	TCAGGG	TCAGGGACAGGG	11: 6,599,756		probably benign	Het
Nacad	C	CAGGGTA	11: 6,599,763		probably benign	Het
Nars	CCACTCAC	CCAC	18: 64,510,445		probably benign	Homo
Ndufc2	C	T	7: 97,400,274	P29L	probably damaging	Het
Nkx2-6	C	T	14: 69,175,229	T282M	probably damaging	Homo
Noc2l	AGGC	AGGCGGC	4: 156,240,092		probably benign	Homo
Noc2l	CTG	CTGGTG	4: 156,240,098		probably benign	Het
Nolc1	CAG	CAGAAGCAGAAG	19: 46,081,356		probably benign	Het
Nolc1	AGC	AGCAGCAGCGGC	19: 46,081,375		probably benign	Het
Olfr313	T	A	11: 58,817,440	V144D	possibly damaging	Homo
Olfr418	GGGCTGCTTGTGGCAAT	G	1: 173,270,630		probably null	Het
Olfr547	A	AAACCG	7: 102,535,681		probably null	Homo
Olfr585	T	TTAC	7: 103,098,309		probably benign	Homo
Olfr624	AG	AGAGG	7: 103,670,966		probably benign	Homo
Patl2	CTG	CTGGTG	2: 122,126,139		probably benign	Het
Patl2	GCT	GCTTCT	2: 122,126,141		probably benign	Het
Patl2	GC	GCTTC	2: 122,126,144		probably benign	Het
Patl2	C	CTGA	2: 122,126,145		probably benign	Het
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,279,506		probably benign	Homo
Phc1	TG	TGCTGCGG	6: 122,323,600		probably benign	Het
Phf3	ACTGCCGCTCCCGCTCC	AC	1: 30,805,023		probably benign	Het
Pick1	TTC	TTCTC	15: 79,255,946		probably null	Homo
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,281,945		probably benign	Homo
Pik3c2g	AGAGG	AGAGGGAGG	6: 139,635,654		probably null	Homo
Pitrm1	TTTTA	T	13: 6,560,596		probably benign	Homo
Pogz	GTAAT	G	3: 94,874,695		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Ppp2r5c	G	T	12: 110,540,738		probably null	Homo
Prag1	CCGC	CCGCCGC	8: 36,103,883		probably benign	Homo
Prr13	CACT	CACTACT	15: 102,462,171		probably benign	Homo
Prr13	CTC	CTCTTC	15: 102,462,176		probably benign	Homo
Ptms	TCT	TCTCCT	6: 124,914,454		probably benign	Homo
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Raph1	GG	GGGGG	1: 60,489,267		probably benign	Homo
Rpa1	TGCTGCC	T	11: 75,318,519		probably benign	Het
Rpgrip1	GGA	GGATGA	14: 52,149,394		probably benign	Het
Rpgrip1	GGAAGAAGA	GGA	14: 52,149,544		probably benign	Het
Rps19	AGCGG	AG	7: 24,888,996		probably benign	Homo
Rsf1	G	GACC	7: 97,579,909		probably benign	Homo
Serpina3m	A	G	12: 104,358,623		probably null	Homo
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,785,307		probably benign	Homo
Setd1a	TAGTGGTGG	TAGTGGTGGGAGTGGTGG	7: 127,785,316		probably benign	Het
Sfswap	ACTCAGCCC	ACTCAGCCCCCTCAGCCC	5: 129,569,751		probably benign	Het
Sh3pxd2b	CCTGTG	CCTGTGTCTGTG	11: 32,423,055		probably benign	Het
Sh3pxd2b	GCCTGT	GCCTGTGCCTGT	11: 32,423,060		probably benign	Homo
Shroom4	GCAGCAACA	GCA	X: 6,624,074		probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,358		probably benign	Het
Six3	CG	CGGGG	17: 85,621,371		probably benign	Het
Skint8	C	T	4: 111,938,902	L258F	probably benign	Homo
Smoc2	AGTT	A	17: 14,401,562		probably benign	Homo
Smpx	CCCCCA	C	X: 157,720,924		probably benign	Homo
Snx1	TC	TCTGC	9: 66,104,929		probably benign	Homo
Snx1	C	CTTT	9: 66,104,930		probably benign	Homo
Sp110	CT	CTAAT	1: 85,587,489		probably benign	Het
Spaca1	GCTCTC	GCTCTCCCTCTC	4: 34,049,844		probably benign	Het
Spaca1	CGCTCT	CGCTCTTGCTCT	4: 34,049,849		probably benign	Het
Spag17	AGG	AGGTGG	3: 100,056,254		probably benign	Het
Spag17	GGA	GGACGA	3: 100,056,255		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Sry	T	TGGG	Y: 2,662,841		probably benign	Homo
Stard8	AGG	AGGTGG	X: 99,066,513		probably benign	Het
Stard8	AGG	AGGTGG	X: 99,066,525		probably benign	Het
Stk10	CCCA	C	11: 32,614,520		probably benign	Homo
Tap2	ACTG	ACTGCTG	17: 34,205,699		probably benign	Homo
Tbc1d5	G	C	17: 50,799,931	H532Q	probably benign	Homo
Tbc1d5	C	G	17: 50,799,943	Q528H	probably benign	Homo
Tfeb	GCA	GCAACA	17: 47,786,094		probably benign	Het
Tmcc1	G	A	6: 116,193,380		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,214,472		probably benign	Het
Tpsab1	TTGCACCTCCT	TT	17: 25,343,782		probably benign	Het
Trav15-2-dv6-2	G	GAAC	14: 53,649,757		probably benign	Homo
Trav15-2-dv6-2	GAA	GAATAA	14: 53,649,754		probably null	Het
Trim16	GTGA	GTGATGA	11: 62,820,689		probably benign	Homo
Tsen2	AGG	AGGCGG	6: 115,560,066		probably benign	Homo
Ubtf	TC	TCCGC	11: 102,306,959		probably benign	Het
Vmn1r124	G	T	7: 21,259,936	Q228K	possibly damaging	Het
Vmn1r71	A	C	7: 10,748,121	S147R	probably benign	Homo
Vmn2r99	G	A	17: 19,394,285	G756R	probably damaging	Homo
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Wdr75	AAATAA	AAA	1: 45,823,404		probably benign	Homo
Zfp111	T	G	7: 24,199,037	K383T	probably damaging	Homo
Zfp111	A	ATCG	7: 24,199,807		probably benign	Homo
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp282	CGG	CGGTGG	6: 47,904,790		probably benign	Het
Zfp335	CTC	CTCTTC	2: 164,907,474		probably benign	Het
Zfp335	TCC	TCCACC	2: 164,907,478		probably benign	Het
Zfp459	TGA	TGAGAGA	13: 67,408,274		probably null	Homo
Zfp459	GA	GAGTTA	13: 67,408,275		probably null	Homo
Zfp459	A	AGTGG	13: 67,408,276		probably null	Homo
Zfp462	ACC	ACCTCAGCCACAGCCGCC	4: 55,009,760		probably benign	Het
Zfp462	CC	CCTCAGCCACAGCCATC	4: 55,009,761		probably benign	Het
Zfp598	CCACAGGC	CC	17: 24,679,372		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,782		probably benign	Het
Zfp683	AG	AGGGG	4: 134,058,879		probably benign	Homo

Other mutations in Apc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Apc	APN	18	34316926	missense	probably benign	0.01
IGL00898:Apc	APN	18	34317094	missense	probably damaging	1.00
IGL01111:Apc	APN	18	34315136	missense	possibly damaging	0.95
IGL01347:Apc	APN	18	34317670	missense	probably damaging	1.00
IGL01375:Apc	APN	18	34313654	missense	probably damaging	1.00
IGL01805:Apc	APN	18	34318218	missense	probably benign	0.02
IGL01997:Apc	APN	18	34315423	missense	probably benign	0.00
IGL02033:Apc	APN	18	34310719	missense	probably damaging	1.00
IGL02323:Apc	APN	18	34315810	nonsense	probably null
IGL02373:Apc	APN	18	34316159	missense	probably damaging	1.00
IGL02379:Apc	APN	18	34298745	missense	probably benign	0.45
IGL02456:Apc	APN	18	34313882	nonsense	probably null
IGL02552:Apc	APN	18	34312982	missense	possibly damaging	0.90
IGL02676:Apc	APN	18	34315634	missense	probably damaging	1.00
IGL02756:Apc	APN	18	34314535	missense	probably damaging	1.00
IGL02938:Apc	APN	18	34315228	missense	probably damaging	0.98
IGL02974:Apc	APN	18	34268383	splice site	probably benign
IGL03124:Apc	APN	18	34299985	missense	probably damaging	0.98
IGL03201:Apc	APN	18	34312376	missense	probably damaging	1.00
IGL03339:Apc	APN	18	34298474	missense	probably damaging	1.00
FR4304:Apc	UTSW	18	34281997	intron	probably benign
FR4342:Apc	UTSW	18	34281999	intron	probably benign
FR4449:Apc	UTSW	18	34282000	intron	probably benign
FR4449:Apc	UTSW	18	34282005	intron	probably benign
FR4548:Apc	UTSW	18	34281998	intron	probably benign
FR4737:Apc	UTSW	18	34281999	intron	probably benign
FR4976:Apc	UTSW	18	34281998	intron	probably benign
FR4976:Apc	UTSW	18	34282000	intron	probably benign
R0385:Apc	UTSW	18	34315944	missense	probably damaging	1.00
R0535:Apc	UTSW	18	34261072	missense	probably damaging	1.00
R0561:Apc	UTSW	18	34313303	missense	possibly damaging	0.94
R0590:Apc	UTSW	18	34316230	nonsense	probably null
R0626:Apc	UTSW	18	34318454	missense	probably damaging	1.00
R0991:Apc	UTSW	18	34316107	missense	probably damaging	1.00
R1564:Apc	UTSW	18	34315149	missense	probably benign	0.00
R1663:Apc	UTSW	18	34268325	missense	probably damaging	0.98
R1737:Apc	UTSW	18	34317022	missense	probably damaging	1.00
R1739:Apc	UTSW	18	34312318	missense	probably damaging	1.00
R1835:Apc	UTSW	18	34317077	missense	probably damaging	1.00
R1887:Apc	UTSW	18	34272468	missense	probably damaging	1.00
R1957:Apc	UTSW	18	34317335	missense	probably damaging	1.00
R1974:Apc	UTSW	18	34300004	missense	possibly damaging	0.62
R2005:Apc	UTSW	18	34310909	critical splice donor site	probably null
R2013:Apc	UTSW	18	34315591	missense	probably damaging	0.98
R2014:Apc	UTSW	18	34315591	missense	probably damaging	0.98
R2015:Apc	UTSW	18	34315591	missense	probably damaging	0.98
R2017:Apc	UTSW	18	34313602	missense	probably benign	0.00
R2056:Apc	UTSW	18	34316428	missense	probably damaging	1.00
R2108:Apc	UTSW	18	34269229	missense	probably damaging	1.00
R2120:Apc	UTSW	18	34276601	missense	probably damaging	1.00
R2131:Apc	UTSW	18	34312045	missense	possibly damaging	0.51
R2133:Apc	UTSW	18	34312045	missense	possibly damaging	0.51
R2291:Apc	UTSW	18	34312491	missense	probably benign	0.45
R2332:Apc	UTSW	18	34317059	missense	possibly damaging	0.50
R2360:Apc	UTSW	18	34261126	missense	probably damaging	1.00
R2407:Apc	UTSW	18	34314262	missense	possibly damaging	0.77
R2507:Apc	UTSW	18	34316537	missense	possibly damaging	0.77
R2940:Apc	UTSW	18	34276670	missense	probably damaging	1.00
R3404:Apc	UTSW	18	34313602	missense	probably benign	0.00
R3411:Apc	UTSW	18	34269259	splice site	probably benign
R3778:Apc	UTSW	18	34313081	missense	probably damaging	1.00
R3826:Apc	UTSW	18	34279335	missense	possibly damaging	0.93
R4599:Apc	UTSW	18	34317987	nonsense	probably null
R4611:Apc	UTSW	18	34318565	missense	probably damaging	1.00
R4664:Apc	UTSW	18	34298594	missense	probably damaging	0.98
R4969:Apc	UTSW	18	34312918	nonsense	probably null
R5007:Apc	UTSW	18	34312963	missense	probably damaging	1.00
R5066:Apc	UTSW	18	34316105	missense	probably damaging	1.00
R5112:Apc	UTSW	18	34316109	nonsense	probably null
R5259:Apc	UTSW	18	34314290	missense	probably benign	0.29
R5440:Apc	UTSW	18	34221160	unclassified	probably benign
R5508:Apc	UTSW	18	34298580	missense	probably damaging	0.97
R5512:Apc	UTSW	18	34310909	critical splice donor site	probably benign
R5850:Apc	UTSW	18	34318063	missense	possibly damaging	0.94
R5951:Apc	UTSW	18	34317146	missense	possibly damaging	0.89
R5966:Apc	UTSW	18	34221087	utr 5 prime	probably benign
R6081:Apc	UTSW	18	34290111	missense	possibly damaging	0.93
R6116:Apc	UTSW	18	34316455	missense	probably damaging	1.00
R6351:Apc	UTSW	18	34312212	missense	probably damaging	1.00
R6354:Apc	UTSW	18	34312528	missense	probably benign	0.02
R6467:Apc	UTSW	18	34269199	missense	probably benign	0.22
R6974:Apc	UTSW	18	34298427	missense	possibly damaging	0.65
R7027:Apc	UTSW	18	34312076	missense	probably damaging	1.00
R7096:Apc	UTSW	18	34315957	missense	probably damaging	1.00
R7289:Apc	UTSW	18	34315271	missense	probably damaging	1.00
R7439:Apc	UTSW	18	34312073	missense	probably damaging	1.00
R7441:Apc	UTSW	18	34312073	missense	probably damaging	1.00
R7534:Apc	UTSW	18	34316962	missense	probably damaging	1.00
R7685:Apc	UTSW	18	34314208	missense	probably damaging	1.00
R7814:Apc	UTSW	18	34272539	missense	probably damaging	0.98
R7954:Apc	UTSW	18	34314268	missense	probably damaging	0.99
R8352:Apc	UTSW	18	34312751	missense	possibly damaging	0.54
R8452:Apc	UTSW	18	34312751	missense	possibly damaging	0.54
R8497:Apc	UTSW	18	34313030	missense	possibly damaging	0.81
R8545:Apc	UTSW	18	34317031	missense	possibly damaging	0.94
R8554:Apc	UTSW	18	34312946	missense	probably damaging	1.00
R8955:Apc	UTSW	18	34268317	missense	probably damaging	1.00
R9014:Apc	UTSW	18	34221021	start gained	probably benign
R9061:Apc	UTSW	18	34313198	missense	probably damaging	1.00
R9147:Apc	UTSW	18	34317657	missense	probably damaging	1.00
R9318:Apc	UTSW	18	34313987	missense	possibly damaging	0.69
R9521:Apc	UTSW	18	34312685	missense	probably benign	0.24
R9546:Apc	UTSW	18	34312258	missense	possibly damaging	0.86
R9547:Apc	UTSW	18	34312258	missense	possibly damaging	0.86
R9557:Apc	UTSW	18	34318359	missense	probably damaging	1.00
R9592:Apc	UTSW	18	34310770	nonsense	probably null
R9675:Apc	UTSW	18	34316194	missense	probably damaging	1.00
R9736:Apc	UTSW	18	34317770	missense	probably damaging	1.00
R9792:Apc	UTSW	18	34314575	missense	probably damaging	1.00
R9793:Apc	UTSW	18	34314575	missense	probably damaging	1.00
R9795:Apc	UTSW	18	34314575	missense	probably damaging	1.00
RF046:Apc	UTSW	18	34282009	critical splice donor site	probably benign
RF063:Apc	UTSW	18	34282009	critical splice donor site	probably benign
X0021:Apc	UTSW	18	34312108	missense	probably damaging	1.00
X0025:Apc	UTSW	18	34312376	missense	probably damaging	1.00
Z1088:Apc	UTSW	18	34313167	nonsense	probably null
Z1177:Apc	UTSW	18	34314463	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GCCTGGGATACATAAGAGCCTG -3'
(R):5'- GGGATCTAATACCAACTTGAGGTAAC -3'

Sequencing Primer
(F):5'- TACTCAGCAAATGCAGGTGTC -3'
(R):5'- GTAACTGAACTGAATTGTGGGAC -3'

Posted On

2018-04-05