Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02216:Neo1'

284915

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Neo1

Ensembl Gene

ENSMUSG00000032340

Gene Name

neogenin

Synonyms

2610028H22Rik, D930014N22Rik, Igdcc2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02216

Quality Score

Status

Chromosome

Chromosomal Location

58874687-59036441 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58917053 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 697 (I697M)

Ref Sequence

ENSEMBL: ENSMUSP00000150600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068664] [ENSMUST00000214547]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068664
AA Change: I697M

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: I697M

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
IGc2	76	147	9.49e-5	SMART
IGc2	175	239	4.43e-5	SMART
IGc2	272	338	6.15e-13	SMART
IGc2	364	428	7.76e-10	SMART
low complexity region	446	458	N/A	INTRINSIC
FN3	470	553	8.23e-12	SMART
FN3	570	649	1.78e-16	SMART
FN3	665	749	1.54e-11	SMART
FN3	770	849	5.27e-10	SMART
FN3	885	970	7.63e-7	SMART
FN3	986	1072	2.78e-9	SMART
transmembrane domain	1136	1158	N/A	INTRINSIC
Pfam:Neogenin_C	1189	1492	1.9e-122	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214547
AA Change: I697M

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215026

Predicted Effect

probably benign
Transcript: ENSMUST00000216964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217545

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 cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a gene trap allele display perinatal lethality and abnormal trigeminal nerve development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	T	18: 38,252,860	I102F	probably damaging	Het
4930544D05Rik	T	C	11: 70,616,179	F48L	possibly damaging	Het
5830473C10Rik	T	C	5: 90,579,579		probably benign	Het
Adamts12	A	G	15: 11,241,485	N381S	possibly damaging	Het
Akp3	A	T	1: 87,127,650	Q473L	probably damaging	Het
Ap5s1	T	A	2: 131,212,967		probably benign	Het
Atp10b	T	A	11: 43,259,789	L1438Q	probably damaging	Het
B3galt4	G	A	17: 33,950,565	P233L	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cc2d1a	C	A	8: 84,139,313	E393*	probably null	Het
Cd209a	G	T	8: 3,745,576	T165N	probably damaging	Het
Chid1	T	C	7: 141,496,593		probably benign	Het
Cln3	A	T	7: 126,575,342		probably null	Het
Cped1	A	T	6: 22,059,945	R203S	probably damaging	Het
Dnttip2	G	T	3: 122,276,261	W375L	probably benign	Het
Dync1h1	T	C	12: 110,663,002	F4280S	probably damaging	Het
Ephb4	A	G	5: 137,372,070	D844G	possibly damaging	Het
Fhl2	T	A	1: 43,131,719	E145V	probably null	Het
Gne	T	C	4: 44,044,761	K458E	probably benign	Het
Grid2	G	T	6: 64,345,666	R550L	probably damaging	Het
Klhl1	T	A	14: 96,123,222	T731S	probably benign	Het
Kng1	T	A	16: 23,058,533	D30E	probably damaging	Het
Kyat1	A	G	2: 30,187,252	V158A	probably benign	Het
Mcm8	G	T	2: 132,839,529	V642F	probably damaging	Het
Mdn1	C	T	4: 32,739,092	H3638Y	probably benign	Het
Neb	T	G	2: 52,226,490	T4158P	probably benign	Het
Nfkb1	A	T	3: 135,594,963	V614D	probably damaging	Het
Olfr860	G	A	9: 19,846,565	S18L	probably damaging	Het
Otog	T	C	7: 46,301,468	S2555P	probably damaging	Het
Pkd1l1	T	A	11: 8,834,897	R1962S	probably damaging	Het
Plxnb1	A	G	9: 109,100,850	Y258C	probably damaging	Het
Pramef8	T	A	4: 143,417,728		probably null	Het
Prl3a1	A	G	13: 27,270,144	D35G	probably benign	Het
Rag1	A	T	2: 101,643,381	V472D	possibly damaging	Het
Rbpj-ps3	G	A	6: 46,529,707		probably benign	Het
Rnf112	C	T	11: 61,449,978	V472M	probably damaging	Het
Rps18	A	G	17: 33,952,041		probably benign	Het
Rptn	T	C	3: 93,395,773	S138P	possibly damaging	Het
Sbpl	A	C	17: 23,953,716	N76K	probably benign	Het
Sh3bp1	A	T	15: 78,905,164	M241L	probably benign	Het
Slc22a17	T	C	14: 54,907,976	*198W	probably null	Het
Smc3	C	T	19: 53,621,844	R221C	probably damaging	Het
Snai1	A	G	2: 167,538,848	E87G	probably benign	Het
Snx22	C	A	9: 66,069,188	A49S	probably benign	Het
Tas2r143	A	T	6: 42,400,334	R33*	probably null	Het
Try4	A	G	6: 41,305,031	I184V	probably benign	Het
Ttn	A	G	2: 76,791,725	V15491A	probably benign	Het
Ttn	T	A	2: 76,754,552	K20355*	probably null	Het
Vmn1r170	A	G	7: 23,606,490	T106A	probably damaging	Het
Vmn2r59	A	T	7: 42,012,393	V666E	probably damaging	Het
Vsx1	T	C	2: 150,684,575	N221S	possibly damaging	Het
Zcchc6	T	C	13: 59,800,423	T293A	probably benign	Het
Zfp846	A	G	9: 20,588,609	E45G	probably damaging	Het

Other mutations in Neo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Neo1	APN	9	58921919	splice site	probably benign
IGL00885:Neo1	APN	9	58888463	missense	probably damaging	1.00
IGL01103:Neo1	APN	9	58880799	missense	possibly damaging	0.60
IGL01322:Neo1	APN	9	58907085	missense	possibly damaging	0.68
IGL02327:Neo1	APN	9	58903088	missense	probably benign	0.08
IGL02392:Neo1	APN	9	58925811	missense	possibly damaging	0.49
IGL02458:Neo1	APN	9	58893867	splice site	probably benign
IGL03057:Neo1	APN	9	58878059	missense	probably damaging	1.00
IGL03091:Neo1	APN	9	58978668	missense	probably damaging	0.98
IGL03193:Neo1	APN	9	58908484	missense	probably damaging	1.00
R0097:Neo1	UTSW	9	58882021	intron	probably benign
R0419:Neo1	UTSW	9	58990180	splice site	probably benign
R0571:Neo1	UTSW	9	58985786	missense	probably benign
R0646:Neo1	UTSW	9	58931034	missense	probably damaging	1.00
R0736:Neo1	UTSW	9	58917081	missense	possibly damaging	0.78
R0739:Neo1	UTSW	9	58921877	missense	probably benign	0.22
R1636:Neo1	UTSW	9	58913277	missense	probably damaging	1.00
R1694:Neo1	UTSW	9	58880603	missense	probably damaging	1.00
R1827:Neo1	UTSW	9	58917031	nonsense	probably null
R1927:Neo1	UTSW	9	58990385	missense	probably benign	0.12
R2354:Neo1	UTSW	9	58985634	missense	probably benign
R2365:Neo1	UTSW	9	58956003	missense	probably benign
R3156:Neo1	UTSW	9	58888979	splice site	probably null
R3552:Neo1	UTSW	9	58893878	missense	probably damaging	1.00
R3829:Neo1	UTSW	9	58913169	missense	possibly damaging	0.58
R4477:Neo1	UTSW	9	58877299	missense	probably damaging	0.99
R4613:Neo1	UTSW	9	58889041	missense	possibly damaging	0.94
R5023:Neo1	UTSW	9	58990271	missense	probably damaging	1.00
R5046:Neo1	UTSW	9	58893911	missense	possibly damaging	0.77
R5057:Neo1	UTSW	9	58990271	missense	probably damaging	1.00
R5323:Neo1	UTSW	9	58906648	critical splice donor site	probably null
R5394:Neo1	UTSW	9	58990234	missense	probably benign	0.10
R5470:Neo1	UTSW	9	58931067	missense	probably damaging	1.00
R5473:Neo1	UTSW	9	58880843	missense	possibly damaging	0.88
R5500:Neo1	UTSW	9	58917054	missense	possibly damaging	0.94
R5503:Neo1	UTSW	9	58985650	missense	possibly damaging	0.67
R6122:Neo1	UTSW	9	58917008	missense	probably benign
R6191:Neo1	UTSW	9	58889029	missense	probably damaging	1.00
R6431:Neo1	UTSW	9	58907071	missense	probably benign	0.27
R6560:Neo1	UTSW	9	58880601	missense	possibly damaging	0.95
R6658:Neo1	UTSW	9	58921849	missense	probably benign	0.14
R6772:Neo1	UTSW	9	58902976	missense	probably damaging	1.00
R6912:Neo1	UTSW	9	58917052	missense	probably benign	0.00
R7061:Neo1	UTSW	9	58990441	missense	possibly damaging	0.95
R7145:Neo1	UTSW	9	58889179	missense	probably damaging	1.00
R7156:Neo1	UTSW	9	58902923	missense	probably damaging	1.00
R7485:Neo1	UTSW	9	58884543	missense	probably benign	0.04
R7519:Neo1	UTSW	9	58878065	missense	probably benign	0.13
R7615:Neo1	UTSW	9	58884503	missense	probably benign	0.07
R7665:Neo1	UTSW	9	58925795	missense	probably damaging	1.00
R7695:Neo1	UTSW	9	58902929	missense	possibly damaging	0.81
R7753:Neo1	UTSW	9	58956005	missense	probably benign	0.00
R7807:Neo1	UTSW	9	58990494	missense	probably benign	0.01
X0063:Neo1	UTSW	9	58990298	missense	probably damaging	0.98

Posted On

2015-04-16