Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03357:Dcc'

419987

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dcc

Ensembl Gene

ENSMUSG00000060534

Gene Name

deleted in colorectal carcinoma

Synonyms

Igdcc1, C030036D22Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03357

Quality Score

Status

Chromosome

Chromosomal Location

71386705-72484140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71460625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 1155 (I1155K)

Ref Sequence

ENSEMBL: ENSMUSP00000110593 (fasta)

Gene Model

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

AlphaFold

P70211

Predicted Effect

probably damaging
Transcript: ENSMUST00000073379
AA Change: I1135K

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

SMART Domains

Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534
AA Change: I1135K

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 damaging
Transcript: ENSMUST00000114943
AA Change: I1155K

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

SMART Domains

Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534
AA Change: I1155K

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	T	19: 8,986,689 (GRCm39)		probably benign	Het
Asah1	A	G	8: 41,799,233 (GRCm39)		probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Chd6	T	C	2: 160,859,936 (GRCm39)		probably benign	Het
Chn2	G	A	6: 54,171,062 (GRCm39)	R47Q	probably benign	Het
Clmp	A	G	9: 40,597,623 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,987,740 (GRCm39)	G245R	probably damaging	Het
Cyp4a32	T	A	4: 115,468,798 (GRCm39)	S395T	probably benign	Het
Dpy19l4	G	A	4: 11,267,615 (GRCm39)	H442Y	probably damaging	Het
Dpys	T	C	15: 39,687,612 (GRCm39)	I395M	probably damaging	Het
Dpysl2	T	C	14: 67,050,736 (GRCm39)	K374E	probably damaging	Het
Fryl	A	T	5: 73,211,402 (GRCm39)	D660E	probably damaging	Het
Gabrb2	T	C	11: 42,482,771 (GRCm39)	F210L	probably damaging	Het
Gm4831	C	T	17: 37,422,879 (GRCm39)		probably benign	Het
Igsf10	A	T	3: 59,243,632 (GRCm39)	M234K	probably benign	Het
Ints11	T	C	4: 155,956,581 (GRCm39)		probably benign	Het
Mex3a	T	A	3: 88,443,553 (GRCm39)	S210T	probably benign	Het
Or4k42	C	T	2: 111,320,289 (GRCm39)	M71I	probably benign	Het
Or4k52	G	A	2: 111,610,871 (GRCm39)	V69I	probably benign	Het
Pde1c	A	G	6: 56,157,078 (GRCm39)	V106A	probably damaging	Het
Pitpnm3	G	A	11: 71,961,716 (GRCm39)	Q284*	probably null	Het
Pkd1l2	A	G	8: 117,722,548 (GRCm39)	L2420P	probably damaging	Het
Prpf39	A	G	12: 65,108,211 (GRCm39)		probably benign	Het
Prss28	C	T	17: 25,528,669 (GRCm39)	T37I	probably benign	Het
Serpinb6c	A	T	13: 34,079,369 (GRCm39)	S108T	probably benign	Het
Snx7	T	C	3: 117,632,524 (GRCm39)	H131R	probably damaging	Het
Tex101	A	T	7: 24,367,758 (GRCm39)	I198K	probably damaging	Het
Thoc2l	T	G	5: 104,668,334 (GRCm39)	V952G	probably damaging	Het
Thumpd2	T	C	17: 81,351,519 (GRCm39)		probably benign	Het
Ubqln3	A	C	7: 103,791,763 (GRCm39)	I109S	probably benign	Het
Zfp212	A	T	6: 47,907,771 (GRCm39)	N250I	probably benign	Het

Other mutations in Dcc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Dcc	APN	18	71,517,296 (GRCm39)	critical splice acceptor site	probably null
IGL00781:Dcc	APN	18	71,942,266 (GRCm39)	missense	probably benign	0.25
IGL00818:Dcc	APN	18	72,088,083 (GRCm39)	missense	probably benign
IGL00895:Dcc	APN	18	71,943,871 (GRCm39)	missense	probably damaging	0.98
IGL00969:Dcc	APN	18	71,589,954 (GRCm39)	missense	probably benign	0.25
IGL01019:Dcc	APN	18	71,942,161 (GRCm39)	missense	probably benign	0.00
IGL01132:Dcc	APN	18	71,815,245 (GRCm39)	nonsense	probably null
IGL01349:Dcc	APN	18	71,503,808 (GRCm39)	missense	probably damaging	1.00
IGL01355:Dcc	APN	18	71,942,185 (GRCm39)	missense	probably benign	0.00
IGL01374:Dcc	APN	18	71,507,624 (GRCm39)	missense	probably damaging	1.00
IGL01947:Dcc	APN	18	71,959,280 (GRCm39)	missense	probably benign
IGL02470:Dcc	APN	18	72,088,153 (GRCm39)	splice site	probably benign
IGL02508:Dcc	APN	18	71,503,773 (GRCm39)	missense	probably benign	0.00
IGL02999:Dcc	APN	18	71,511,749 (GRCm39)	missense	possibly damaging	0.68
IGL03034:Dcc	APN	18	71,708,214 (GRCm39)	nonsense	probably null
IGL03118:Dcc	APN	18	71,553,344 (GRCm39)	missense	probably benign	0.00
IGL03133:Dcc	APN	18	71,396,026 (GRCm39)	splice site	probably benign
Hyperrev	UTSW	18	71,392,086 (GRCm39)	missense	probably damaging	1.00
LCD18:Dcc	UTSW	18	72,430,518 (GRCm39)	intron	probably benign
P0031:Dcc	UTSW	18	71,517,299 (GRCm39)	splice site	probably benign
PIT4142001:Dcc	UTSW	18	71,517,297 (GRCm39)	splice site	probably null
R0076:Dcc	UTSW	18	71,454,117 (GRCm39)	nonsense	probably null
R0355:Dcc	UTSW	18	71,708,279 (GRCm39)	missense	possibly damaging	0.75
R0370:Dcc	UTSW	18	71,721,056 (GRCm39)	missense	possibly damaging	0.92
R0383:Dcc	UTSW	18	71,553,334 (GRCm39)	missense	probably damaging	0.99
R0541:Dcc	UTSW	18	71,392,086 (GRCm39)	missense	probably damaging	1.00
R0690:Dcc	UTSW	18	71,942,275 (GRCm39)	splice site	probably benign
R0762:Dcc	UTSW	18	71,475,776 (GRCm39)	splice site	probably benign
R0765:Dcc	UTSW	18	71,496,061 (GRCm39)	missense	probably damaging	1.00
R0846:Dcc	UTSW	18	71,959,283 (GRCm39)	missense	probably benign	0.06
R1230:Dcc	UTSW	18	71,815,384 (GRCm39)	missense	probably damaging	1.00
R1662:Dcc	UTSW	18	71,553,409 (GRCm39)	missense	probably benign	0.00
R1663:Dcc	UTSW	18	71,959,123 (GRCm39)	missense	probably damaging	1.00
R1697:Dcc	UTSW	18	71,503,808 (GRCm39)	missense	probably damaging	1.00
R1770:Dcc	UTSW	18	71,579,470 (GRCm39)	missense	probably benign	0.01
R1781:Dcc	UTSW	18	71,511,788 (GRCm39)	missense	probably benign	0.41
R1797:Dcc	UTSW	18	71,500,232 (GRCm39)	missense	probably damaging	1.00
R2101:Dcc	UTSW	18	71,943,941 (GRCm39)	missense	possibly damaging	0.62
R2190:Dcc	UTSW	18	71,680,491 (GRCm39)	missense	possibly damaging	0.89
R2248:Dcc	UTSW	18	71,959,239 (GRCm39)	missense	probably benign	0.00
R2262:Dcc	UTSW	18	71,507,622 (GRCm39)	missense	probably damaging	1.00
R2442:Dcc	UTSW	18	71,589,954 (GRCm39)	missense	probably damaging	0.98
R3844:Dcc	UTSW	18	71,959,257 (GRCm39)	missense	probably benign	0.01
R4037:Dcc	UTSW	18	72,483,468 (GRCm39)	missense	possibly damaging	0.57
R4085:Dcc	UTSW	18	71,959,240 (GRCm39)	missense	probably benign	0.00
R4344:Dcc	UTSW	18	71,507,561 (GRCm39)	missense	probably damaging	0.99
R4499:Dcc	UTSW	18	71,680,388 (GRCm39)	missense	probably benign	0.07
R4611:Dcc	UTSW	18	71,682,069 (GRCm39)	splice site	probably null
R4811:Dcc	UTSW	18	71,432,554 (GRCm39)	missense	probably benign	0.31
R4937:Dcc	UTSW	18	71,675,320 (GRCm39)	nonsense	probably null
R5125:Dcc	UTSW	18	71,589,948 (GRCm39)	missense	probably benign	0.02
R5292:Dcc	UTSW	18	71,439,159 (GRCm39)	missense	probably damaging	1.00
R5297:Dcc	UTSW	18	71,511,809 (GRCm39)	missense	probably benign	0.00
R5317:Dcc	UTSW	18	71,517,226 (GRCm39)	missense	possibly damaging	0.78
R5691:Dcc	UTSW	18	71,708,154 (GRCm39)	missense	probably damaging	1.00
R5693:Dcc	UTSW	18	71,708,153 (GRCm39)	missense	probably damaging	1.00
R6091:Dcc	UTSW	18	71,942,185 (GRCm39)	missense	probably benign	0.00
R6291:Dcc	UTSW	18	71,815,238 (GRCm39)	missense	probably benign	0.06
R6307:Dcc	UTSW	18	71,943,826 (GRCm39)	missense	probably benign	0.15
R6343:Dcc	UTSW	18	71,469,106 (GRCm39)	missense	probably damaging	1.00
R6508:Dcc	UTSW	18	71,439,144 (GRCm39)	missense	probably damaging	1.00
R6701:Dcc	UTSW	18	71,942,191 (GRCm39)	missense	probably benign	0.02
R6810:Dcc	UTSW	18	71,503,764 (GRCm39)	missense	probably damaging	0.99
R7078:Dcc	UTSW	18	71,680,469 (GRCm39)	missense	probably benign	0.05
R7172:Dcc	UTSW	18	71,511,755 (GRCm39)	missense	probably benign	0.04
R7345:Dcc	UTSW	18	71,511,895 (GRCm39)	missense	probably benign	0.00
R7365:Dcc	UTSW	18	71,959,194 (GRCm39)	missense	probably damaging	0.98
R7395:Dcc	UTSW	18	71,507,640 (GRCm39)	nonsense	probably null
R7455:Dcc	UTSW	18	71,553,394 (GRCm39)	missense	probably benign	0.00
R7461:Dcc	UTSW	18	71,439,105 (GRCm39)	missense	probably damaging	1.00
R7485:Dcc	UTSW	18	71,553,317 (GRCm39)	missense	probably benign	0.00
R7732:Dcc	UTSW	18	71,579,506 (GRCm39)	missense	probably benign	0.24
R7886:Dcc	UTSW	18	72,087,939 (GRCm39)	nonsense	probably null
R8097:Dcc	UTSW	18	71,812,573 (GRCm39)	missense	probably damaging	1.00
R8137:Dcc	UTSW	18	71,511,783 (GRCm39)	missense	probably benign	0.00
R8188:Dcc	UTSW	18	71,943,928 (GRCm39)	missense	probably benign
R8236:Dcc	UTSW	18	72,088,089 (GRCm39)	missense	probably benign
R8802:Dcc	UTSW	18	71,959,125 (GRCm39)	missense	probably damaging	1.00
R8869:Dcc	UTSW	18	71,511,755 (GRCm39)	missense	probably benign	0.04
R9221:Dcc	UTSW	18	71,553,433 (GRCm39)	missense	possibly damaging	0.66
R9282:Dcc	UTSW	18	71,815,249 (GRCm39)	missense	possibly damaging	0.85
R9366:Dcc	UTSW	18	71,708,281 (GRCm39)	missense	probably damaging	1.00
R9566:Dcc	UTSW	18	71,943,866 (GRCm39)	missense	possibly damaging	0.92
R9607:Dcc	UTSW	18	71,721,072 (GRCm39)	missense	probably damaging	1.00
W0251:Dcc	UTSW	18	71,959,154 (GRCm39)	missense	probably damaging	1.00
X0020:Dcc	UTSW	18	71,454,171 (GRCm39)	missense	probably damaging	0.97

Posted On

2016-08-02