Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03133:Dcc'

410421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dcc

Ensembl Gene

ENSMUSG00000060534

Gene Name

deleted in colorectal carcinoma

Synonyms

C030036D22Rik, Igdcc1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03133

Quality Score

Status

Chromosome

Chromosomal Location

71258738-72351069 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 71262955 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073379] [ENSMUST00000114943]

Predicted Effect

probably benign
Transcript: ENSMUST00000073379

SMART Domains

Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
IG	46	137	9.12e-7	SMART
IGc2	152	219	1.75e-17	SMART
IGc2	252	317	4.12e-14	SMART
IGc2	343	407	8e-12	SMART
IG_like	424	520	1.06e2	SMART
FN3	429	511	6.69e-12	SMART
FN3	528	607	6.53e-15	SMART
FN3	622	705	2.09e-13	SMART
FN3	726	805	8.43e-9	SMART
FN3	824	909	2.48e-6	SMART
FN3	925	1011	1.35e-7	SMART
transmembrane domain	1079	1101	N/A	INTRINSIC
Pfam:Neogenin_C	1126	1425	5.5e-129	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114943

SMART Domains

Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
IG	46	137	9.12e-7	SMART
IGc2	152	219	1.75e-17	SMART
IGc2	252	317	4.12e-14	SMART
IGc2	343	407	8e-12	SMART
IG_like	424	520	1.06e2	SMART
FN3	429	511	6.69e-12	SMART
FN3	528	607	6.53e-15	SMART
FN3	622	705	2.09e-13	SMART
FN3	726	805	8.43e-9	SMART
FN3	844	929	2.48e-6	SMART
FN3	945	1031	1.35e-7	SMART
transmembrane domain	1099	1121	N/A	INTRINSIC
Pfam:Neogenin_C	1148	1445	3.4e-113	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous animals show defects in axonal projections and hypothalamic development affecting both visual and neruoendocrine systems. Incidence of tumors increases in mutations preventing netrin-1 binding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,896		probably benign	Het
Ano5	C	T	7: 51,576,512	R505*	probably null	Het
Asphd1	A	G	7: 126,948,280	C284R	possibly damaging	Het
Cep192	T	A	18: 67,810,105	W158R	probably benign	Het
Ces2h	T	A	8: 105,016,779	D188E	probably damaging	Het
Dab1	G	A	4: 104,727,580	V306I	probably benign	Het
Dennd6b	T	A	15: 89,188,523		probably null	Het
Dmwd	T	A	7: 19,076,637	V123D	probably damaging	Het
Eno1	A	G	4: 150,245,344		probably benign	Het
Fat2	G	A	11: 55,286,043	T1542I	probably benign	Het
Fcrl1	T	C	3: 87,389,392	S274P	probably benign	Het
Gmpr	T	C	13: 45,517,018	V72A	probably benign	Het
Kank2	T	C	9: 21,795,641	E27G	probably null	Het
Mtor	G	T	4: 148,484,319	A1099S	probably benign	Het
Ofcc1	T	C	13: 40,072,768	I763V	probably benign	Het
Olfr1023	G	T	2: 85,887,134	E111D	probably damaging	Het
Olfr1065	A	G	2: 86,445,658	I108T	probably damaging	Het
Olfr487	G	T	7: 108,212,387	S47R	possibly damaging	Het
Olfr870	T	A	9: 20,170,713	N286I	probably damaging	Het
Piwil1	C	A	5: 128,742,029	H201N	probably benign	Het
Slc26a7	C	T	4: 14,532,576	V433M	possibly damaging	Het
Spata31d1c	T	C	13: 65,034,985	Y114H	probably benign	Het
Stx7	A	T	10: 24,185,038	N221I	probably damaging	Het
Tbc1d31	A	T	15: 57,942,459		probably benign	Het
Ubxn7	T	G	16: 32,381,781	L393R	probably damaging	Het
Vit	A	T	17: 78,566,071	M59L	probably benign	Het
Vmn1r5	T	A	6: 56,985,615	C92S	probably benign	Het

Other mutations in Dcc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Dcc	APN	18	71384225	critical splice acceptor site	probably null
IGL00781:Dcc	APN	18	71809195	missense	probably benign	0.25
IGL00818:Dcc	APN	18	71955012	missense	probably benign
IGL00895:Dcc	APN	18	71810800	missense	probably damaging	0.98
IGL00969:Dcc	APN	18	71456883	missense	probably benign	0.25
IGL01019:Dcc	APN	18	71809090	missense	probably benign	0.00
IGL01132:Dcc	APN	18	71682174	nonsense	probably null
IGL01349:Dcc	APN	18	71370737	missense	probably damaging	1.00
IGL01355:Dcc	APN	18	71809114	missense	probably benign	0.00
IGL01374:Dcc	APN	18	71374553	missense	probably damaging	1.00
IGL01947:Dcc	APN	18	71826209	missense	probably benign
IGL02470:Dcc	APN	18	71955082	splice site	probably benign
IGL02508:Dcc	APN	18	71370702	missense	probably benign	0.00
IGL02999:Dcc	APN	18	71378678	missense	possibly damaging	0.68
IGL03034:Dcc	APN	18	71575143	nonsense	probably null
IGL03118:Dcc	APN	18	71420273	missense	probably benign	0.00
IGL03357:Dcc	APN	18	71327554	missense	probably damaging	1.00
Hyperrev	UTSW	18	71259015	missense	probably damaging	1.00
LCD18:Dcc	UTSW	18	72297447	intron	probably benign
P0031:Dcc	UTSW	18	71384228	splice site	probably benign
PIT4142001:Dcc	UTSW	18	71384226	splice site	probably null
R0076:Dcc	UTSW	18	71321046	nonsense	probably null
R0355:Dcc	UTSW	18	71575208	missense	possibly damaging	0.75
R0370:Dcc	UTSW	18	71587985	missense	possibly damaging	0.92
R0383:Dcc	UTSW	18	71420263	missense	probably damaging	0.99
R0541:Dcc	UTSW	18	71259015	missense	probably damaging	1.00
R0690:Dcc	UTSW	18	71809204	splice site	probably benign
R0762:Dcc	UTSW	18	71342705	splice site	probably benign
R0765:Dcc	UTSW	18	71362990	missense	probably damaging	1.00
R0846:Dcc	UTSW	18	71826212	missense	probably benign	0.06
R1230:Dcc	UTSW	18	71682313	missense	probably damaging	1.00
R1662:Dcc	UTSW	18	71420338	missense	probably benign	0.00
R1663:Dcc	UTSW	18	71826052	missense	probably damaging	1.00
R1697:Dcc	UTSW	18	71370737	missense	probably damaging	1.00
R1770:Dcc	UTSW	18	71446399	missense	probably benign	0.01
R1781:Dcc	UTSW	18	71378717	missense	probably benign	0.41
R1797:Dcc	UTSW	18	71367161	missense	probably damaging	1.00
R2101:Dcc	UTSW	18	71810870	missense	possibly damaging	0.62
R2190:Dcc	UTSW	18	71547420	missense	possibly damaging	0.89
R2248:Dcc	UTSW	18	71826168	missense	probably benign	0.00
R2262:Dcc	UTSW	18	71374551	missense	probably damaging	1.00
R2442:Dcc	UTSW	18	71456883	missense	probably damaging	0.98
R3844:Dcc	UTSW	18	71826186	missense	probably benign	0.01
R4037:Dcc	UTSW	18	72350397	missense	possibly damaging	0.57
R4085:Dcc	UTSW	18	71826169	missense	probably benign	0.00
R4344:Dcc	UTSW	18	71374490	missense	probably damaging	0.99
R4499:Dcc	UTSW	18	71547317	missense	probably benign	0.07
R4611:Dcc	UTSW	18	71548998	splice site	probably null
R4811:Dcc	UTSW	18	71299483	missense	probably benign	0.31
R4937:Dcc	UTSW	18	71542249	nonsense	probably null
R5125:Dcc	UTSW	18	71456877	missense	probably benign	0.02
R5292:Dcc	UTSW	18	71306088	missense	probably damaging	1.00
R5297:Dcc	UTSW	18	71378738	missense	probably benign	0.00
R5317:Dcc	UTSW	18	71384155	missense	possibly damaging	0.78
R5691:Dcc	UTSW	18	71575083	missense	probably damaging	1.00
R5693:Dcc	UTSW	18	71575082	missense	probably damaging	1.00
R6091:Dcc	UTSW	18	71809114	missense	probably benign	0.00
R6291:Dcc	UTSW	18	71682167	missense	probably benign	0.06
R6307:Dcc	UTSW	18	71810755	missense	probably benign	0.15
R6343:Dcc	UTSW	18	71336035	missense	probably damaging	1.00
R6508:Dcc	UTSW	18	71306073	missense	probably damaging	1.00
R6701:Dcc	UTSW	18	71809120	missense	probably benign	0.02
R6810:Dcc	UTSW	18	71370693	missense	probably damaging	0.99
R7078:Dcc	UTSW	18	71547398	missense	probably benign	0.05
R7172:Dcc	UTSW	18	71378684	missense	probably benign	0.04
R7345:Dcc	UTSW	18	71378824	missense	probably benign	0.00
R7365:Dcc	UTSW	18	71826123	missense	probably damaging	0.98
R7395:Dcc	UTSW	18	71374569	nonsense	probably null
R7455:Dcc	UTSW	18	71420323	missense	probably benign	0.00
R7461:Dcc	UTSW	18	71306034	missense	probably damaging	1.00
R7485:Dcc	UTSW	18	71420246	missense	probably benign	0.00
R7732:Dcc	UTSW	18	71446435	missense	probably benign	0.24
R7886:Dcc	UTSW	18	71954868	nonsense	probably null
R8097:Dcc	UTSW	18	71679502	missense	probably damaging	1.00
R8137:Dcc	UTSW	18	71378712	missense	probably benign	0.00
R8188:Dcc	UTSW	18	71810857	missense	probably benign
R8236:Dcc	UTSW	18	71955018	missense	probably benign
W0251:Dcc	UTSW	18	71826083	missense	probably damaging	1.00
X0020:Dcc	UTSW	18	71321100	missense	probably damaging	0.97

Posted On

2016-08-02