Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01349:Dcc'

75282

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 #

IGL01349

Quality Score

Status

Chromosome

Chromosomal Location

71386705-72484140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71503808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 950 (D950V)

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: D930V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073094
Gene: ENSMUSG00000060534
AA Change: D930V

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: D950V

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

SMART Domains

Protein: ENSMUSP00000110593
Gene: ENSMUSG00000060534
AA Change: D950V

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

Meta Mutation Damage Score

0.5980

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,242,076 (GRCm39)	S1313L	probably benign	Het
Adam28	T	C	14: 68,848,455 (GRCm39)	H667R	probably benign	Het
Arap1	T	C	7: 101,036,359 (GRCm39)	V382A	possibly damaging	Het
Arih2	T	C	9: 108,482,609 (GRCm39)	Y444C	probably damaging	Het
Asxl3	T	G	18: 22,657,294 (GRCm39)	V1768G	probably benign	Het
Bbs9	T	A	9: 22,798,979 (GRCm39)	M869K	probably benign	Het
C4bp	A	G	1: 130,570,665 (GRCm39)		probably benign	Het
Cc2d2a	A	T	5: 43,881,126 (GRCm39)	Y1167F	probably benign	Het
Cgn	T	A	3: 94,674,486 (GRCm39)	K884*	probably null	Het
Chd1l	T	C	3: 97,498,550 (GRCm39)	Y283C	probably benign	Het
Cry1	A	G	10: 84,984,603 (GRCm39)	V157A	probably benign	Het
Dlc1	A	G	8: 37,050,978 (GRCm39)	F918L	probably damaging	Het
Dnah2	T	C	11: 69,366,432 (GRCm39)	N1890S	probably damaging	Het
Dnah5	A	G	15: 28,295,059 (GRCm39)		probably benign	Het
Eif4b	C	T	15: 101,999,858 (GRCm39)	T412I	probably benign	Het
Eloa	A	C	4: 135,741,758 (GRCm39)	Y29D	probably benign	Het
Erbb4	A	G	1: 68,385,752 (GRCm39)	F279S	probably benign	Het
Etl4	A	G	2: 20,718,207 (GRCm39)	D316G	probably damaging	Het
Gm5114	T	C	7: 39,058,531 (GRCm39)	S363G	probably benign	Het
Gpam	A	G	19: 55,084,551 (GRCm39)		probably null	Het
Il17rd	T	A	14: 26,817,901 (GRCm39)	S197T	probably damaging	Het
Iqsec3	T	C	6: 121,450,083 (GRCm39)	E147G	possibly damaging	Het
Itk	T	A	11: 46,232,027 (GRCm39)	T303S	possibly damaging	Het
Kcnh6	A	G	11: 105,914,743 (GRCm39)	D716G	possibly damaging	Het
Lca5	A	G	9: 83,308,670 (GRCm39)	S59P	probably damaging	Het
Lrrc40	T	C	3: 157,764,302 (GRCm39)		probably benign	Het
Mmp7	T	C	9: 7,699,335 (GRCm39)		probably benign	Het
Mycbp2	T	C	14: 103,359,983 (GRCm39)	T4427A	probably damaging	Het
Nf2	T	C	11: 4,734,472 (GRCm39)	D513G	possibly damaging	Het
Or2y1b	T	A	11: 49,209,127 (GRCm39)	Y251*	probably null	Het
Pde7a	C	T	3: 19,283,843 (GRCm39)		probably benign	Het
Pira2	T	C	7: 3,847,138 (GRCm39)	T135A	probably damaging	Het
Rb1	T	C	14: 73,506,558 (GRCm39)	Y397C	probably damaging	Het
Ros1	A	T	10: 51,927,122 (GRCm39)	M2187K	probably damaging	Het
Ryr2	T	A	13: 11,602,125 (GRCm39)	I4586F	possibly damaging	Het
Serpinb3c	A	T	1: 107,200,513 (GRCm39)	M210K	probably damaging	Het
Slc22a19	C	A	19: 7,651,792 (GRCm39)	V472F	probably benign	Het
Slc4a11	A	G	2: 130,528,863 (GRCm39)	I462T	probably benign	Het
Spag11b	A	T	8: 19,191,492 (GRCm39)	H55L	probably damaging	Het
Trpv5	G	T	6: 41,652,309 (GRCm39)	N125K	possibly damaging	Het
Ubr4	G	T	4: 139,208,039 (GRCm39)	R4940L	unknown	Het
Vcan	T	A	13: 89,852,062 (GRCm39)	H966L	probably damaging	Het
Vmn1r204	T	A	13: 22,740,504 (GRCm39)	I45K	probably damaging	Het
Vnn3	A	T	10: 23,727,814 (GRCm39)	I75F	probably damaging	Het
Vps13b	A	T	15: 35,794,091 (GRCm39)	M2256L	probably benign	Het
Zfc3h1	T	A	10: 115,259,353 (GRCm39)	L1642M	probably damaging	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
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
IGL03357:Dcc	APN	18	71,460,625 (GRCm39)	missense	probably damaging	1.00
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

2013-10-07